Guest guest Posted June 13, 2005 Report Share Posted June 13, 2005 Hi Gillian and welcome to the group. I don't have many answers for you but just wanted to welcome you. Please be sure, however, to get in touch with the MAGIC Foundation here in the United States at www.magicfoundation.org. You will obtain tremendous information from them and this group. My daughter is 5 1/2 and was diagnosed at 3 3/4, however, recently seen by an endo in NYC who has over 100 RSS patients and says she is not. Although she does not know why she is not growing, we are scheduled for further blood tests. I have another daughter, Kelli 2 3/4 and she is a great eater, better sleeper and almost as tall as her big sister. is not a great sleeper and never was. B 5 1/2 and Kelli 2 3/4 --- gillian1191 wrote: > Hello everyone, my name is Gillian, I live in > London. This is my first > posting. I found this discussion group a week ago > and have found it > incredibly useful so far. Thanks. > > My only child Madeleine (Madz) is 9 months tomorrow > and we have > suspected she has RSS for some time as she seems to > have all the > symptoms. I thought I'd make a record of the process > of realisation > that our daughter has RSS, as all the signs were > there from the 20 > week scan, and yet noone put two and two together. > > I should probably have split this up into a number > of emails as it is > so long. Please feel free to delete this if other > people's medical > details bore you! > > Madz was diagnosed with a cleft palate at the 20 > week scan and also a > high head circumference to abdominal ratio. They > also noticed > doxyocephally ie. oval head shape. There was very > little amniotic > fluid so they took a careful look at her kidneys > under the ultrasound, > they were fine. At this stage we were advised to go > for an amnio which > was normal girl 46XX. (Thank goodness there is no > test for RSS at this > stage, or we may have made the wrong decision). A > cardio specialist > also gave her a heart scan whilst still in the womb; > everything was > fine. After that we went for weekly scans and the > Drs measured the > resistance in the umbilical cord, bloodflow was > always positive (ie in > the right direction) but outside the normal range by > quite a long way. > It seems from earlier postings that this may be used > in the future to > diagnose RSS. From 29 weeks we were on standby for > an emergency > Caesarean, but luckily (as the high resistance was > presumably all due > to RSS!) she went to 37 weeks and was born 3lbs 10z. > > When she was born she had a very obviously bullet > shaped head (from > the top looking towards her face)which I put down to > lack of fluid and > being squashed in the womb, however the > childgrowthfoundation.org.uk > says this is an RSS feature. Her head shape hasn't > changed, and has > grown steadily along the 50th centile since birth. > Her weight dropped > initially whilst on expressed breast milk but > recovered on Nutraprem > to about 2 SDs? below the 0.4th centile throughout. > She was 10lbs 2oz > at 8 months. I also noticed her bossed forehead on > the day she was > born, but I have a big forehead so thought it was > probably inherited. > I remember thinking that it was bizarre that the > geneticist saw her on > day 2 and seemed to obsess about her curving 5th > fingers. Anyway still > noone mentioned RSS. > > She stayed 3 weeks in SCBU while we found a bottle > she could use with > her cleft, but she took much longer to find one than > most cleft palate > babies (probably due to RSS feeding issues?) - in > the end a Mead > squeezy bottle with a normal teat worked. > Still eating was > slow: 40 minutes for 30 mls. She was able to drink > from the bottle > well enough to leave the hospital at 3 weeks. We > went from Nutraprem > 2 to SMA High energy (she hated) to Infatrini - > which she still has. > > Anyway although it wasn't an easy journey, between 3 > months and 5 > months she was having as much as 600 mls of > infatrini a day, a full > time job for me squeezing it into her. - reading > your posts, this > sounds like a lot and I wonder whether having the > ability to squeeze > milk into her mouth has allowed us to feed her a lot > more and > therefore got her strength up well enough to start > to enjoy eating. > On the negative side it could have been the cause of > bronchitus. > However she is on solids now (1st stage) and today > wolfed down 4 125ml > jars plus 2 60 ml petit filous plus 250mls of milk, > which seems like a > lot of calories but not much liquid to me. I've > also heard that > problems seem to start with stage 2. Is that true? > > One thing I am confused about is that even though > she is eating all > these calories she still gets nighttime sweats. Is > this familiar to > anyone? When we had her palate repaired I asked the > nurse to take 4 > hourly blood sugar tests and despite being stressed > from the op and > not eating for a day or two they were not too low (5 > to 6). > > We had a meeting with the geneticist at 6 months who > initially thought > it was fetal alcohol syndrome (she has haematomas on > her face). This > was the first time I had felt really down since Madz > was borne, it > just felt like a kick in the teeth, but explained > why the visiting > nurses had come round so often! > I explained Madz was planned and I didn't drink for > the first > trimester (thank goodness or I would be blaming > myself now). The Dr > commented that Madz also has the RSS small > triangular face, thin > downward sloping lips but no obvious asymmetry. She > suggested RSS, > and as there was no asymmetry the UPD7 may be more > likely to be > positive. > We have had bloods taken for UPD7 but no results > yet. > > However when Madz had her cleft palate repair last > month, the surgeon > came to me afterwards and said " I noticed when we > looked at her that > there are some asymmetries in her skull, we > recommend that you see the > cranio facial plastic surgery team. Lets just say I > saw some of the > patients who had had this done and it looks like a > BIG operation. I > asked him if he knew that asymmetry was a symptom of > RSS (of course he > hadn't read the notes). > > While she was in hospital we also asked to see the > endocine team - who > took lots of blood for a full pituitary scan. We > are waiting for the > results. > > We also had a developmental assessment at 7 months > which said that > Madz was 2 months delayed for gross motor skills and > will probably not > crawl but go straight to walking - her arms are very > weak and she > lacks muscles under her armpits. She was also 2 > months delayed on > fine motor skills which surprised me, and oral > communication - she > cannot do consonants - could be the cleft or RSS > oral motor skills. > But (DRUMROLL) she is ahead by a month on social > skills HURRAH! (I was > so proud - after all that's the most important thing > at the end of the > day) > > So that is the current situation, Madz is seeing 5 > teams of > consultants: cleft palate, craniofacial, > developmental & nutrician, > endocrine and geneticists. If she ends up having > growth hormone as > well I think I can safely say we are getting value > for money from our > taxes! > > Anyway - I have so many questions! > > I have read that cleft palate " is occasionally seen > with RSS " does > anyone have any experience of this? > > === message truncated === __________________________________ Discover Yahoo! Have fun online with music videos, cool games, IM and more. Check it out! http://discover.yahoo.com/online.html Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 13, 2005 Report Share Posted June 13, 2005 Gillian, Hi and welcome to our group. Don't worry about the length of your post. I rather enjoyed the detailed information. I have limited information for you, but it sounds like you have received a lot of support so far from the childgrowthfoundation. We also found out at 20 weeks that my son, , was not growing correctly. He ended up being born at 34 weeks weighin 2 lbs. 12 1/2 oz. He remained in the hospital for 3 months due to lack of weight gain and various other problems. They did not know why he wasn't growing. He was diagnosed with RSS at 17 months old by Dr. Madeleine Harbison who practices in New York City. She has a long list of RSS patience and she really turned around and he started gaining weight and thriving for once. The thing with my pregnancy was that everything was fine. The umbilical chord was a three vein chord and was flowing perfectly and also giving him adequte flow in order to have a healthy pregnancy. They even sent his chord and the placenta out to be tested and they both came back normal. They did not know why he wasn't thriving in the womb. They said his inutero environment was sufficient for him to have grown without any trouble. was also born with a mishapen head. It was very obvious to the eye and they had talked about putting one of those helmets on his head to help it even out and make the shape more natural. We never went forward with that, and today he has a round shaped head with no other problems to speak of. His head was oblong looking for a long time. In hindsight, we realize that it was simply asymmetry. didn't start walking until he was 23 months old. I think he is one of the latest walkers here if that helps. He didn't crawl until after he walked. But, like Madz, is doing well socially, but was always behind in gross and fine motor skils. This is typical for RSS children. is also advanced in the cognitive skills and language, too. His speech is quite good for a 3 year old. As far as the growth charts, if you get on magicfoundation.org you will get some info. If you join this great support group, you can have them send you a growth chart. Do you care to share what her measurments are today? Maybe someone could find out where she is on the growth chart for you. As far as the nighttime sweating goes. That is a hrad one. If you are still feeding her a good bit, I don't know why she would be sweating from low blood sugar. But, there are factors in this. If she is still really skinny, she just doesn't have the fat stores and it all burns up quicker because it isn't being stored in her body. And, if you are going for a long period of time inbetween feeds, this may be why she is sweating. One thing about RSS children, especially when they are babies is that you have to feed them VERY often. It sounds like your daughter is taking in a good bit of food in one setting. can only have little amounts over a period of time. He is fed through a feeding tube and has to be on a continuous type feed. We can't shoot it into him all at once. He just doesn't tolerate this as he will spit it all back up. I know that cafe au lait marks are a characteristic of RSS. I am not sure about the hemangeomas. My older son has both of these though. He also has the curved pinkies. His appetitie stinks, too. He has never been diagnosed with RSS though, but I see a lot of similarities in my two kids. has it undoubtedly though. A lot of us are preparing for an annual convention that is put on by the MAGIC Foundation. They are the ones with the website I told you about. The Dr. that diagnosed , she is an expert in RSS, will be there to consult with these kids and their parents. It is full of information and seminars and time to talk with others dealing with the same things. It would be great for you to check out their website and maybe even call them to find out more information. I realize you live so very far, but people come fro all over to attend. I hope you get some of your questions answered and that your daughter continues to do well. Take care and once again, welcome aborad. By the way, I am also good at the long posts! ) Jodi R. , 3, RSS, reflux, j tube, asymmetry, negative UPD 7 study. > Hello everyone, my name is Gillian, I live in London. This is my first > posting. I found this discussion group a week ago and have found it > incredibly useful so far. Thanks. > > My only child Madeleine (Madz) is 9 months tomorrow and we have > suspected she has RSS for some time as she seems to have all the > symptoms. I thought I'd make a record of the process of realisation > that our daughter has RSS, as all the signs were there from the 20 > week scan, and yet noone put two and two together. > > I should probably have split this up into a number of emails as it is > so long. Please feel free to delete this if other people's medical > details bore you! > > Madz was diagnosed with a cleft palate at the 20 week scan and also a > high head circumference to abdominal ratio. They also noticed > doxyocephally ie. oval head shape. There was very little amniotic > fluid so they took a careful look at her kidneys under the ultrasound, > they were fine. At this stage we were advised to go for an amnio which > was normal girl 46XX. (Thank goodness there is no test for RSS at this > stage, or we may have made the wrong decision). A cardio specialist > also gave her a heart scan whilst still in the womb; everything was > fine. After that we went for weekly scans and the Drs measured the > resistance in the umbilical cord, bloodflow was always positive (ie in > the right direction) but outside the normal range by quite a long way. > It seems from earlier postings that this may be used in the future to > diagnose RSS. From 29 weeks we were on standby for an emergency > Caesarean, but luckily (as the high resistance was presumably all due > to RSS!) she went to 37 weeks and was born 3lbs 10z. > When she was born she had a very obviously bullet shaped head (from > the top looking towards her face)which I put down to lack of fluid and > being squashed in the womb, however the childgrowthfoundation.org.uk > says this is an RSS feature. Her head shape hasn't changed, and has > grown steadily along the 50th centile since birth. Her weight dropped > initially whilst on expressed breast milk but recovered on Nutraprem > to about 2 SDs? below the 0.4th centile throughout. She was 10lbs 2oz > at 8 months. I also noticed her bossed forehead on the day she was > born, but I have a big forehead so thought it was probably inherited. > I remember thinking that it was bizarre that the geneticist saw her on > day 2 and seemed to obsess about her curving 5th fingers. Anyway still > noone mentioned RSS. > > She stayed 3 weeks in SCBU while we found a bottle she could use with > her cleft, but she took much longer to find one than most cleft palate > babies (probably due to RSS feeding issues?) - in the end a Mead > squeezy bottle with a normal teat worked. Still eating was > slow: 40 minutes for 30 mls. She was able to drink from the bottle > well enough to leave the hospital at 3 weeks. We went from Nutraprem > 2 to SMA High energy (she hated) to Infatrini - which she still has. > > Anyway although it wasn't an easy journey, between 3 months and 5 > months she was having as much as 600 mls of infatrini a day, a full > time job for me squeezing it into her. - reading your posts, this > sounds like a lot and I wonder whether having the ability to squeeze > milk into her mouth has allowed us to feed her a lot more and > therefore got her strength up well enough to start to enjoy eating. > On the negative side it could have been the cause of bronchitus. > However she is on solids now (1st stage) and today wolfed down 4 125ml > jars plus 2 60 ml petit filous plus 250mls of milk, which seems like a > lot of calories but not much liquid to me. I've also heard that > problems seem to start with stage 2. Is that true? > > One thing I am confused about is that even though she is eating all > these calories she still gets nighttime sweats. Is this familiar to > anyone? When we had her palate repaired I asked the nurse to take 4 > hourly blood sugar tests and despite being stressed from the op and > not eating for a day or two they were not too low (5 to 6). > > We had a meeting with the geneticist at 6 months who initially thought > it was fetal alcohol syndrome (she has haematomas on her face). This > was the first time I had felt really down since Madz was borne, it > just felt like a kick in the teeth, but explained why the visiting > nurses had come round so often! > I explained Madz was planned and I didn't drink for the first > trimester (thank goodness or I would be blaming myself now). The Dr > commented that Madz also has the RSS small triangular face, thin > downward sloping lips but no obvious asymmetry. She suggested RSS, > and as there was no asymmetry the UPD7 may be more likely to be > positive. > We have had bloods taken for UPD7 but no results yet. > > However when Madz had her cleft palate repair last month, the surgeon > came to me afterwards and said " I noticed when we looked at her that > there are some asymmetries in her skull, we recommend that you see the > cranio facial plastic surgery team. Lets just say I saw some of the > patients who had had this done and it looks like a BIG operation. I > asked him if he knew that asymmetry was a symptom of RSS (of course he > hadn't read the notes). > > While she was in hospital we also asked to see the endocine team - who > took lots of blood for a full pituitary scan. We are waiting for the > results. > > We also had a developmental assessment at 7 months which said that > Madz was 2 months delayed for gross motor skills and will probably not > crawl but go straight to walking - her arms are very weak and she > lacks muscles under her armpits. She was also 2 months delayed on > fine motor skills which surprised me, and oral communication - she > cannot do consonants - could be the cleft or RSS oral motor skills. > But (DRUMROLL) she is ahead by a month on social skills HURRAH! (I was > so proud - after all that's the most important thing at the end of the > day) > > So that is the current situation, Madz is seeing 5 teams of > consultants: cleft palate, craniofacial, developmental & nutrician, > endocrine and geneticists. If she ends up having growth hormone as > well I think I can safely say we are getting value for money from our > taxes! > > Anyway - I have so many questions! > > I have read that cleft palate " is occasionally seen with RSS " does > anyone have any experience of this? > > Does anyone have any evidence of haematomas (strawberry birthmarks) > with RSS? > > Has anyone had or refused plastic surgery to correct the RSS head > shape? What was your experience of this? Was it for cosmetic reasons > or survival? > > I notice from earlier postings that RSS growth charts for girls exist - > would anyone be able to email me one of them? > > When did your RSS children start to crawl/walk/talk? Madz has only > just started to sit up on her own. > > Madz sleeps a lot, for some months up to 15 hours a day, now it is > down to about 13. I'm not complaining! But I was wondering, is this > more likely to be a lack of food or because we are feeding her a lot?. > > Madz has the night-time sweating on head and back from RSS, up till > now I have fed her one extra time in her sleep, but I read about the > gastric tubes - how did you all know feeding your children was not > enough? I've got some ketone sticks but can't get a reading as there > hardly seems to be any urine. > > She also seems to have painful constipation, I tried prunes but it > made her vomit - any ideas? > > We are thinking of having a brother/sister for Madz. On the one hand > most of the websites say RSS does not run in families. On the other > hand looking through the medical papers it seems there are some cases > of more than one RSS child in a family. > More importantly is it true that girls with RSS often go on to have > families of their own who don't have RSS? > > Thanks for surviving to the end of this epic. Don't worry, next time I > feel like writing my memoirs I'll buy a diary! Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 13, 2005 Report Share Posted June 13, 2005 Hi Gillian, I am answering a few things very quickly as my son is in the hospital and I just came back to check my e-mails. We have been told by Dr. Harbison that one of the best things that we did for Jonah was feed him in the middle of the night. We now add corn starch to his bottle before bed and often still feed him in the middle of the night. Constipation is pretty common with kids with RSS and Miralax has been a lifesaver for Jonah. Anyway, welcome to the group. New UK Post > Hello everyone, my name is Gillian, I live in London. This is my first > posting. I found this discussion group a week ago and have found it > incredibly useful so far. Thanks. > > My only child Madeleine (Madz) is 9 months tomorrow and we have > suspected she has RSS for some time as she seems to have all the > symptoms. I thought I'd make a record of the process of realisation > that our daughter has RSS, as all the signs were there from the 20 > week scan, and yet noone put two and two together. > > I should probably have split this up into a number of emails as it is > so long. Please feel free to delete this if other people's medical > details bore you! > > Madz was diagnosed with a cleft palate at the 20 week scan and also a > high head circumference to abdominal ratio. They also noticed > doxyocephally ie. oval head shape. There was very little amniotic > fluid so they took a careful look at her kidneys under the ultrasound, > they were fine. At this stage we were advised to go for an amnio which > was normal girl 46XX. (Thank goodness there is no test for RSS at this > stage, or we may have made the wrong decision). A cardio specialist > also gave her a heart scan whilst still in the womb; everything was > fine. After that we went for weekly scans and the Drs measured the > resistance in the umbilical cord, bloodflow was always positive (ie in > the right direction) but outside the normal range by quite a long way. > It seems from earlier postings that this may be used in the future to > diagnose RSS. From 29 weeks we were on standby for an emergency > Caesarean, but luckily (as the high resistance was presumably all due > to RSS!) she went to 37 weeks and was born 3lbs 10z. > When she was born she had a very obviously bullet shaped head (from > the top looking towards her face)which I put down to lack of fluid and > being squashed in the womb, however the childgrowthfoundation.org.uk > says this is an RSS feature. Her head shape hasn't changed, and has > grown steadily along the 50th centile since birth. Her weight dropped > initially whilst on expressed breast milk but recovered on Nutraprem > to about 2 SDs? below the 0.4th centile throughout. She was 10lbs 2oz > at 8 months. I also noticed her bossed forehead on the day she was > born, but I have a big forehead so thought it was probably inherited. > I remember thinking that it was bizarre that the geneticist saw her on > day 2 and seemed to obsess about her curving 5th fingers. Anyway still > noone mentioned RSS. > > She stayed 3 weeks in SCBU while we found a bottle she could use with > her cleft, but she took much longer to find one than most cleft palate > babies (probably due to RSS feeding issues?) - in the end a Mead > squeezy bottle with a normal teat worked. Still eating was > slow: 40 minutes for 30 mls. She was able to drink from the bottle > well enough to leave the hospital at 3 weeks. We went from Nutraprem > 2 to SMA High energy (she hated) to Infatrini - which she still has. > > Anyway although it wasn't an easy journey, between 3 months and 5 > months she was having as much as 600 mls of infatrini a day, a full > time job for me squeezing it into her. - reading your posts, this > sounds like a lot and I wonder whether having the ability to squeeze > milk into her mouth has allowed us to feed her a lot more and > therefore got her strength up well enough to start to enjoy eating. > On the negative side it could have been the cause of bronchitus. > However she is on solids now (1st stage) and today wolfed down 4 125ml > jars plus 2 60 ml petit filous plus 250mls of milk, which seems like a > lot of calories but not much liquid to me. I've also heard that > problems seem to start with stage 2. Is that true? > > One thing I am confused about is that even though she is eating all > these calories she still gets nighttime sweats. Is this familiar to > anyone? When we had her palate repaired I asked the nurse to take 4 > hourly blood sugar tests and despite being stressed from the op and > not eating for a day or two they were not too low (5 to 6). > > We had a meeting with the geneticist at 6 months who initially thought > it was fetal alcohol syndrome (she has haematomas on her face). This > was the first time I had felt really down since Madz was borne, it > just felt like a kick in the teeth, but explained why the visiting > nurses had come round so often! > I explained Madz was planned and I didn't drink for the first > trimester (thank goodness or I would be blaming myself now). The Dr > commented that Madz also has the RSS small triangular face, thin > downward sloping lips but no obvious asymmetry. She suggested RSS, > and as there was no asymmetry the UPD7 may be more likely to be > positive. > We have had bloods taken for UPD7 but no results yet. > > However when Madz had her cleft palate repair last month, the surgeon > came to me afterwards and said " I noticed when we looked at her that > there are some asymmetries in her skull, we recommend that you see the > cranio facial plastic surgery team. Lets just say I saw some of the > patients who had had this done and it looks like a BIG operation. I > asked him if he knew that asymmetry was a symptom of RSS (of course he > hadn't read the notes). > > While she was in hospital we also asked to see the endocine team - who > took lots of blood for a full pituitary scan. We are waiting for the > results. > > We also had a developmental assessment at 7 months which said that > Madz was 2 months delayed for gross motor skills and will probably not > crawl but go straight to walking - her arms are very weak and she > lacks muscles under her armpits. She was also 2 months delayed on > fine motor skills which surprised me, and oral communication - she > cannot do consonants - could be the cleft or RSS oral motor skills. > But (DRUMROLL) she is ahead by a month on social skills HURRAH! (I was > so proud - after all that's the most important thing at the end of the > day) > > So that is the current situation, Madz is seeing 5 teams of > consultants: cleft palate, craniofacial, developmental & nutrician, > endocrine and geneticists. If she ends up having growth hormone as > well I think I can safely say we are getting value for money from our > taxes! > > Anyway - I have so many questions! > > I have read that cleft palate " is occasionally seen with RSS " does > anyone have any experience of this? > > Does anyone have any evidence of haematomas (strawberry birthmarks) > with RSS? > > Has anyone had or refused plastic surgery to correct the RSS head > shape? What was your experience of this? Was it for cosmetic reasons > or survival? > > I notice from earlier postings that RSS growth charts for girls exist - > would anyone be able to email me one of them? > > When did your RSS children start to crawl/walk/talk? Madz has only > just started to sit up on her own. > > Madz sleeps a lot, for some months up to 15 hours a day, now it is > down to about 13. I'm not complaining! But I was wondering, is this > more likely to be a lack of food or because we are feeding her a lot?. > > Madz has the night-time sweating on head and back from RSS, up till > now I have fed her one extra time in her sleep, but I read about the > gastric tubes - how did you all know feeding your children was not > enough? I've got some ketone sticks but can't get a reading as there > hardly seems to be any urine. > > She also seems to have painful constipation, I tried prunes but it > made her vomit - any ideas? > > We are thinking of having a brother/sister for Madz. On the one hand > most of the websites say RSS does not run in families. On the other > hand looking through the medical papers it seems there are some cases > of more than one RSS child in a family. > More importantly is it true that girls with RSS often go on to have > families of their own who don't have RSS? > > Thanks for surviving to the end of this epic. Don't worry, next time I > feel like writing my memoirs I'll buy a diary! > > > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 13, 2005 Report Share Posted June 13, 2005 Hi gillian i'm a 27 rss adult and live in scotland in the UK. I was born with a cleft palate and had surgery to correct it and even my dentist have had difficulty telling that i had cleft palate surgery. There is the Child Growth Foundation in the UK and they have an rss division and also have a conference each year, this year in northampton. please feel free to email me privately with any questions you may have, i often travel to london to visit family so maybe we could arrange to meet up sometime on my next trip. gillian1191 wrote:Hello everyone, my name is Gillian, I live in London. This is my first posting. I found this discussion group a week ago and have found it incredibly useful so far. Thanks. My only child Madeleine (Madz) is 9 months tomorrow and we have suspected she has RSS for some time as she seems to have all the symptoms. I thought I'd make a record of the process of realisation that our daughter has RSS, as all the signs were there from the 20 week scan, and yet noone put two and two together. I should probably have split this up into a number of emails as it is so long. Please feel free to delete this if other people's medical details bore you! Madz was diagnosed with a cleft palate at the 20 week scan and also a high head circumference to abdominal ratio. They also noticed doxyocephally ie. oval head shape. There was very little amniotic fluid so they took a careful look at her kidneys under the ultrasound, they were fine. At this stage we were advised to go for an amnio which was normal girl 46XX. (Thank goodness there is no test for RSS at this stage, or we may have made the wrong decision). A cardio specialist also gave her a heart scan whilst still in the womb; everything was fine. After that we went for weekly scans and the Drs measured the resistance in the umbilical cord, bloodflow was always positive (ie in the right direction) but outside the normal range by quite a long way. It seems from earlier postings that this may be used in the future to diagnose RSS. From 29 weeks we were on standby for an emergency Caesarean, but luckily (as the high resistance was presumably all due to RSS!) she went to 37 weeks and was born 3lbs 10z. When she was born she had a very obviously bullet shaped head (from the top looking towards her face)which I put down to lack of fluid and being squashed in the womb, however the childgrowthfoundation.org.uk says this is an RSS feature. Her head shape hasn't changed, and has grown steadily along the 50th centile since birth. Her weight dropped initially whilst on expressed breast milk but recovered on Nutraprem to about 2 SDs? below the 0.4th centile throughout. She was 10lbs 2oz at 8 months. I also noticed her bossed forehead on the day she was born, but I have a big forehead so thought it was probably inherited. I remember thinking that it was bizarre that the geneticist saw her on day 2 and seemed to obsess about her curving 5th fingers. Anyway still noone mentioned RSS. She stayed 3 weeks in SCBU while we found a bottle she could use with her cleft, but she took much longer to find one than most cleft palate babies (probably due to RSS feeding issues?) - in the end a Mead squeezy bottle with a normal teat worked. Still eating was slow: 40 minutes for 30 mls. She was able to drink from the bottle well enough to leave the hospital at 3 weeks. We went from Nutraprem 2 to SMA High energy (she hated) to Infatrini - which she still has. Anyway although it wasn't an easy journey, between 3 months and 5 months she was having as much as 600 mls of infatrini a day, a full time job for me squeezing it into her. - reading your posts, this sounds like a lot and I wonder whether having the ability to squeeze milk into her mouth has allowed us to feed her a lot more and therefore got her strength up well enough to start to enjoy eating. On the negative side it could have been the cause of bronchitus. However she is on solids now (1st stage) and today wolfed down 4 125ml jars plus 2 60 ml petit filous plus 250mls of milk, which seems like a lot of calories but not much liquid to me. I've also heard that problems seem to start with stage 2. Is that true? One thing I am confused about is that even though she is eating all these calories she still gets nighttime sweats. Is this familiar to anyone? When we had her palate repaired I asked the nurse to take 4 hourly blood sugar tests and despite being stressed from the op and not eating for a day or two they were not too low (5 to 6). We had a meeting with the geneticist at 6 months who initially thought it was fetal alcohol syndrome (she has haematomas on her face). This was the first time I had felt really down since Madz was borne, it just felt like a kick in the teeth, but explained why the visiting nurses had come round so often! I explained Madz was planned and I didn't drink for the first trimester (thank goodness or I would be blaming myself now). The Dr commented that Madz also has the RSS small triangular face, thin downward sloping lips but no obvious asymmetry. She suggested RSS, and as there was no asymmetry the UPD7 may be more likely to be positive. We have had bloods taken for UPD7 but no results yet. However when Madz had her cleft palate repair last month, the surgeon came to me afterwards and said " I noticed when we looked at her that there are some asymmetries in her skull, we recommend that you see the cranio facial plastic surgery team. Lets just say I saw some of the patients who had had this done and it looks like a BIG operation. I asked him if he knew that asymmetry was a symptom of RSS (of course he hadn't read the notes). While she was in hospital we also asked to see the endocine team - who took lots of blood for a full pituitary scan. We are waiting for the results. We also had a developmental assessment at 7 months which said that Madz was 2 months delayed for gross motor skills and will probably not crawl but go straight to walking - her arms are very weak and she lacks muscles under her armpits. She was also 2 months delayed on fine motor skills which surprised me, and oral communication - she cannot do consonants - could be the cleft or RSS oral motor skills. But (DRUMROLL) she is ahead by a month on social skills HURRAH! (I was so proud - after all that's the most important thing at the end of the day) So that is the current situation, Madz is seeing 5 teams of consultants: cleft palate, craniofacial, developmental & nutrician, endocrine and geneticists. If she ends up having growth hormone as well I think I can safely say we are getting value for money from our taxes! Anyway - I have so many questions! I have read that cleft palate " is occasionally seen with RSS " does anyone have any experience of this? Does anyone have any evidence of haematomas (strawberry birthmarks) with RSS? Has anyone had or refused plastic surgery to correct the RSS head shape? What was your experience of this? Was it for cosmetic reasons or survival? I notice from earlier postings that RSS growth charts for girls exist - would anyone be able to email me one of them? When did your RSS children start to crawl/walk/talk? Madz has only just started to sit up on her own. Madz sleeps a lot, for some months up to 15 hours a day, now it is down to about 13. I'm not complaining! But I was wondering, is this more likely to be a lack of food or because we are feeding her a lot?. Madz has the night-time sweating on head and back from RSS, up till now I have fed her one extra time in her sleep, but I read about the gastric tubes - how did you all know feeding your children was not enough? I've got some ketone sticks but can't get a reading as there hardly seems to be any urine. She also seems to have painful constipation, I tried prunes but it made her vomit - any ideas? We are thinking of having a brother/sister for Madz. On the one hand most of the websites say RSS does not run in families. On the other hand looking through the medical papers it seems there are some cases of more than one RSS child in a family. More importantly is it true that girls with RSS often go on to have families of their own who don't have RSS? Thanks for surviving to the end of this epic. Don't worry, next time I feel like writing my memoirs I'll buy a diary! --------------------------------- Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 13, 2005 Report Share Posted June 13, 2005 Hello welcome to the group. i enjoyed your story. I was hust going to let you know that my son Grayson has the skull deformation like many others, had it since birth. But we have had grayson in a DOC band for amonth now and it has helped a great deal. The younger the better, Grayson is one of the oldcest patients they have treated,but because of his boneage he was accepted for the helmet. If you need any info. let me know. Amber( Austin 7 non-rss Grayson 21 months rss g-tube meds Jodi wrote:Gillian, Hi and welcome to our group. Don't worry about the length of your post. I rather enjoyed the detailed information. I have limited information for you, but it sounds like you have received a lot of support so far from the childgrowthfoundation. We also found out at 20 weeks that my son, , was not growing correctly. He ended up being born at 34 weeks weighin 2 lbs. 12 1/2 oz. He remained in the hospital for 3 months due to lack of weight gain and various other problems. They did not know why he wasn't growing. He was diagnosed with RSS at 17 months old by Dr. Madeleine Harbison who practices in New York City. She has a long list of RSS patience and she really turned around and he started gaining weight and thriving for once. The thing with my pregnancy was that everything was fine. The umbilical chord was a three vein chord and was flowing perfectly and also giving him adequte flow in order to have a healthy pregnancy. They even sent his chord and the placenta out to be tested and they both came back normal. They did not know why he wasn't thriving in the womb. They said his inutero environment was sufficient for him to have grown without any trouble. was also born with a mishapen head. It was very obvious to the eye and they had talked about putting one of those helmets on his head to help it even out and make the shape more natural. We never went forward with that, and today he has a round shaped head with no other problems to speak of. His head was oblong looking for a long time. In hindsight, we realize that it was simply asymmetry. didn't start walking until he was 23 months old. I think he is one of the latest walkers here if that helps. He didn't crawl until after he walked. But, like Madz, is doing well socially, but was always behind in gross and fine motor skils. This is typical for RSS children. is also advanced in the cognitive skills and language, too. His speech is quite good for a 3 year old. As far as the growth charts, if you get on magicfoundation.org you will get some info. If you join this great support group, you can have them send you a growth chart. Do you care to share what her measurments are today? Maybe someone could find out where she is on the growth chart for you. As far as the nighttime sweating goes. That is a hrad one. If you are still feeding her a good bit, I don't know why she would be sweating from low blood sugar. But, there are factors in this. If she is still really skinny, she just doesn't have the fat stores and it all burns up quicker because it isn't being stored in her body. And, if you are going for a long period of time inbetween feeds, this may be why she is sweating. One thing about RSS children, especially when they are babies is that you have to feed them VERY often. It sounds like your daughter is taking in a good bit of food in one setting. can only have little amounts over a period of time. He is fed through a feeding tube and has to be on a continuous type feed. We can't shoot it into him all at once. He just doesn't tolerate this as he will spit it all back up. I know that cafe au lait marks are a characteristic of RSS. I am not sure about the hemangeomas. My older son has both of these though. He also has the curved pinkies. His appetitie stinks, too. He has never been diagnosed with RSS though, but I see a lot of similarities in my two kids. has it undoubtedly though. A lot of us are preparing for an annual convention that is put on by the MAGIC Foundation. They are the ones with the website I told you about. The Dr. that diagnosed , she is an expert in RSS, will be there to consult with these kids and their parents. It is full of information and seminars and time to talk with others dealing with the same things. It would be great for you to check out their website and maybe even call them to find out more information. I realize you live so very far, but people come fro all over to attend. I hope you get some of your questions answered and that your daughter continues to do well. Take care and once again, welcome aborad. By the way, I am also good at the long posts! ) Jodi R. , 3, RSS, reflux, j tube, asymmetry, negative UPD 7 study. > Hello everyone, my name is Gillian, I live in London. This is my first > posting. I found this discussion group a week ago and have found it > incredibly useful so far. Thanks. > > My only child Madeleine (Madz) is 9 months tomorrow and we have > suspected she has RSS for some time as she seems to have all the > symptoms. I thought I'd make a record of the process of realisation > that our daughter has RSS, as all the signs were there from the 20 > week scan, and yet noone put two and two together. > > I should probably have split this up into a number of emails as it is > so long. Please feel free to delete this if other people's medical > details bore you! > > Madz was diagnosed with a cleft palate at the 20 week scan and also a > high head circumference to abdominal ratio. They also noticed > doxyocephally ie. oval head shape. There was very little amniotic > fluid so they took a careful look at her kidneys under the ultrasound, > they were fine. At this stage we were advised to go for an amnio which > was normal girl 46XX. (Thank goodness there is no test for RSS at this > stage, or we may have made the wrong decision). A cardio specialist > also gave her a heart scan whilst still in the womb; everything was > fine. After that we went for weekly scans and the Drs measured the > resistance in the umbilical cord, bloodflow was always positive (ie in > the right direction) but outside the normal range by quite a long way. > It seems from earlier postings that this may be used in the future to > diagnose RSS. From 29 weeks we were on standby for an emergency > Caesarean, but luckily (as the high resistance was presumably all due > to RSS!) she went to 37 weeks and was born 3lbs 10z. > When she was born she had a very obviously bullet shaped head (from > the top looking towards her face)which I put down to lack of fluid and > being squashed in the womb, however the childgrowthfoundation.org.uk > says this is an RSS feature. Her head shape hasn't changed, and has > grown steadily along the 50th centile since birth. Her weight dropped > initially whilst on expressed breast milk but recovered on Nutraprem > to about 2 SDs? below the 0.4th centile throughout. She was 10lbs 2oz > at 8 months. I also noticed her bossed forehead on the day she was > born, but I have a big forehead so thought it was probably inherited. > I remember thinking that it was bizarre that the geneticist saw her on > day 2 and seemed to obsess about her curving 5th fingers. Anyway still > noone mentioned RSS. > > She stayed 3 weeks in SCBU while we found a bottle she could use with > her cleft, but she took much longer to find one than most cleft palate > babies (probably due to RSS feeding issues?) - in the end a Mead > squeezy bottle with a normal teat worked. Still eating was > slow: 40 minutes for 30 mls. She was able to drink from the bottle > well enough to leave the hospital at 3 weeks. We went from Nutraprem > 2 to SMA High energy (she hated) to Infatrini - which she still has. > > Anyway although it wasn't an easy journey, between 3 months and 5 > months she was having as much as 600 mls of infatrini a day, a full > time job for me squeezing it into her. - reading your posts, this > sounds like a lot and I wonder whether having the ability to squeeze > milk into her mouth has allowed us to feed her a lot more and > therefore got her strength up well enough to start to enjoy eating. > On the negative side it could have been the cause of bronchitus. > However she is on solids now (1st stage) and today wolfed down 4 125ml > jars plus 2 60 ml petit filous plus 250mls of milk, which seems like a > lot of calories but not much liquid to me. I've also heard that > problems seem to start with stage 2. Is that true? > > One thing I am confused about is that even though she is eating all > these calories she still gets nighttime sweats. Is this familiar to > anyone? When we had her palate repaired I asked the nurse to take 4 > hourly blood sugar tests and despite being stressed from the op and > not eating for a day or two they were not too low (5 to 6). > > We had a meeting with the geneticist at 6 months who initially thought > it was fetal alcohol syndrome (she has haematomas on her face). This > was the first time I had felt really down since Madz was borne, it > just felt like a kick in the teeth, but explained why the visiting > nurses had come round so often! > I explained Madz was planned and I didn't drink for the first > trimester (thank goodness or I would be blaming myself now). The Dr > commented that Madz also has the RSS small triangular face, thin > downward sloping lips but no obvious asymmetry. She suggested RSS, > and as there was no asymmetry the UPD7 may be more likely to be > positive. > We have had bloods taken for UPD7 but no results yet. > > However when Madz had her cleft palate repair last month, the surgeon > came to me afterwards and said " I noticed when we looked at her that > there are some asymmetries in her skull, we recommend that you see the > cranio facial plastic surgery team. Lets just say I saw some of the > patients who had had this done and it looks like a BIG operation. I > asked him if he knew that asymmetry was a symptom of RSS (of course he > hadn't read the notes). > > While she was in hospital we also asked to see the endocine team - who > took lots of blood for a full pituitary scan. We are waiting for the > results. > > We also had a developmental assessment at 7 months which said that > Madz was 2 months delayed for gross motor skills and will probably not > crawl but go straight to walking - her arms are very weak and she > lacks muscles under her armpits. She was also 2 months delayed on > fine motor skills which surprised me, and oral communication - she > cannot do consonants - could be the cleft or RSS oral motor skills. > But (DRUMROLL) she is ahead by a month on social skills HURRAH! (I was > so proud - after all that's the most important thing at the end of the > day) > > So that is the current situation, Madz is seeing 5 teams of > consultants: cleft palate, craniofacial, developmental & nutrician, > endocrine and geneticists. If she ends up having growth hormone as > well I think I can safely say we are getting value for money from our > taxes! > > Anyway - I have so many questions! > > I have read that cleft palate " is occasionally seen with RSS " does > anyone have any experience of this? > > Does anyone have any evidence of haematomas (strawberry birthmarks) > with RSS? > > Has anyone had or refused plastic surgery to correct the RSS head > shape? What was your experience of this? Was it for cosmetic reasons > or survival? > > I notice from earlier postings that RSS growth charts for girls exist - > would anyone be able to email me one of them? > > When did your RSS children start to crawl/walk/talk? Madz has only > just started to sit up on her own. > > Madz sleeps a lot, for some months up to 15 hours a day, now it is > down to about 13. I'm not complaining! But I was wondering, is this > more likely to be a lack of food or because we are feeding her a lot?. > > Madz has the night-time sweating on head and back from RSS, up till > now I have fed her one extra time in her sleep, but I read about the > gastric tubes - how did you all know feeding your children was not > enough? I've got some ketone sticks but can't get a reading as there > hardly seems to be any urine. > > She also seems to have painful constipation, I tried prunes but it > made her vomit - any ideas? > > We are thinking of having a brother/sister for Madz. On the one hand > most of the websites say RSS does not run in families. On the other > hand looking through the medical papers it seems there are some cases > of more than one RSS child in a family. > More importantly is it true that girls with RSS often go on to have > families of their own who don't have RSS? > > Thanks for surviving to the end of this epic. Don't worry, next time I > feel like writing my memoirs I'll buy a diary! --------------------------------- Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 13, 2005 Report Share Posted June 13, 2005 -WELCOME TO THE GROUP!! my daughter is 4 and has been sweating a lot and we had her tested recently for low blood sugar but they said its fine, so we are not sure why it is like that..constipation is a huge problem with most kids here, and for what i see most of us use miralax, not sure if it is acailable where you are but you might want to ask your doctor next time you go in...kyla wasn't diagnosed intil she was almost 2 and thats because we moved almost 400 miles away because doctors here weren';t doing anything for her and weren't willing to try, so we moved and after we got all the diagnoses we moved back, but we are in the same boat with doctors and my husband has said maybe we should move again for her, so i don't know as far as sleeping a lot, she did that too, she didn';t eat a lot,she had reflux pretty bad, and we go wednesday to the g.i. to get periactin, a medicine to make her eat because she is too skinny and refuses to eat most of the time.........if you have any questions feel free to ask any of us, everyone here is SO wonderful......stephanie kyla 4 RSS jonathan 19 months bad boy non rss In RSS-Support , " gillian1191 " <foroughis@b...> wrote: > Hello everyone, my name is Gillian, I live in London. This is my first > posting. I found this discussion group a week ago and have found it > incredibly useful so far. Thanks. > > My only child Madeleine (Madz) is 9 months tomorrow and we have > suspected she has RSS for some time as she seems to have all the > symptoms. I thought I'd make a record of the process of realisation > that our daughter has RSS, as all the signs were there from the 20 > week scan, and yet noone put two and two together. > > I should probably have split this up into a number of emails as it is > so long. Please feel free to delete this if other people's medical > details bore you! > > Madz was diagnosed with a cleft palate at the 20 week scan and also a > high head circumference to abdominal ratio. They also noticed > doxyocephally ie. oval head shape. There was very little amniotic > fluid so they took a careful look at her kidneys under the ultrasound, > they were fine. At this stage we were advised to go for an amnio which > was normal girl 46XX. (Thank goodness there is no test for RSS at this > stage, or we may have made the wrong decision). A cardio specialist > also gave her a heart scan whilst still in the womb; everything was > fine. After that we went for weekly scans and the Drs measured the > resistance in the umbilical cord, bloodflow was always positive (ie in > the right direction) but outside the normal range by quite a long way. > It seems from earlier postings that this may be used in the future to > diagnose RSS. From 29 weeks we were on standby for an emergency > Caesarean, but luckily (as the high resistance was presumably all due > to RSS!) she went to 37 weeks and was born 3lbs 10z. > When she was born she had a very obviously bullet shaped head (from > the top looking towards her face)which I put down to lack of fluid and > being squashed in the womb, however the childgrowthfoundation.org.uk > says this is an RSS feature. Her head shape hasn't changed, and has > grown steadily along the 50th centile since birth. Her weight dropped > initially whilst on expressed breast milk but recovered on Nutraprem > to about 2 SDs? below the 0.4th centile throughout. She was 10lbs 2oz > at 8 months. I also noticed her bossed forehead on the day she was > born, but I have a big forehead so thought it was probably inherited. > I remember thinking that it was bizarre that the geneticist saw her on > day 2 and seemed to obsess about her curving 5th fingers. Anyway still > noone mentioned RSS. > > She stayed 3 weeks in SCBU while we found a bottle she could use with > her cleft, but she took much longer to find one than most cleft palate > babies (probably due to RSS feeding issues?) - in the end a Mead > squeezy bottle with a normal teat worked. Still eating was > slow: 40 minutes for 30 mls. She was able to drink from the bottle > well enough to leave the hospital at 3 weeks. We went from Nutraprem > 2 to SMA High energy (she hated) to Infatrini - which she still has. > > Anyway although it wasn't an easy journey, between 3 months and 5 > months she was having as much as 600 mls of infatrini a day, a full > time job for me squeezing it into her. - reading your posts, this > sounds like a lot and I wonder whether having the ability to squeeze > milk into her mouth has allowed us to feed her a lot more and > therefore got her strength up well enough to start to enjoy eating. > On the negative side it could have been the cause of bronchitus. > However she is on solids now (1st stage) and today wolfed down 4 125ml > jars plus 2 60 ml petit filous plus 250mls of milk, which seems like a > lot of calories but not much liquid to me. I've also heard that > problems seem to start with stage 2. Is that true? > > One thing I am confused about is that even though she is eating all > these calories she still gets nighttime sweats. Is this familiar to > anyone? When we had her palate repaired I asked the nurse to take 4 > hourly blood sugar tests and despite being stressed from the op and > not eating for a day or two they were not too low (5 to 6). > > We had a meeting with the geneticist at 6 months who initially thought > it was fetal alcohol syndrome (she has haematomas on her face). This > was the first time I had felt really down since Madz was borne, it > just felt like a kick in the teeth, but explained why the visiting > nurses had come round so often! > I explained Madz was planned and I didn't drink for the first > trimester (thank goodness or I would be blaming myself now). The Dr > commented that Madz also has the RSS small triangular face, thin > downward sloping lips but no obvious asymmetry. She suggested RSS, > and as there was no asymmetry the UPD7 may be more likely to be > positive. > We have had bloods taken for UPD7 but no results yet. > > However when Madz had her cleft palate repair last month, the surgeon > came to me afterwards and said " I noticed when we looked at her that > there are some asymmetries in her skull, we recommend that you see the > cranio facial plastic surgery team. Lets just say I saw some of the > patients who had had this done and it looks like a BIG operation. I > asked him if he knew that asymmetry was a symptom of RSS (of course he > hadn't read the notes). > > While she was in hospital we also asked to see the endocine team - who > took lots of blood for a full pituitary scan. We are waiting for the > results. > > We also had a developmental assessment at 7 months which said that > Madz was 2 months delayed for gross motor skills and will probably not > crawl but go straight to walking - her arms are very weak and she > lacks muscles under her armpits. She was also 2 months delayed on > fine motor skills which surprised me, and oral communication - she > cannot do consonants - could be the cleft or RSS oral motor skills. > But (DRUMROLL) she is ahead by a month on social skills HURRAH! (I was > so proud - after all that's the most important thing at the end of the > day) > > So that is the current situation, Madz is seeing 5 teams of > consultants: cleft palate, craniofacial, developmental & nutrician, > endocrine and geneticists. If she ends up having growth hormone as > well I think I can safely say we are getting value for money from our > taxes! > > Anyway - I have so many questions! > > I have read that cleft palate " is occasionally seen with RSS " does > anyone have any experience of this? > > Does anyone have any evidence of haematomas (strawberry birthmarks) > with RSS? > > Has anyone had or refused plastic surgery to correct the RSS head > shape? What was your experience of this? Was it for cosmetic reasons > or survival? > > I notice from earlier postings that RSS growth charts for girls exist - > would anyone be able to email me one of them? > > When did your RSS children start to crawl/walk/talk? Madz has only > just started to sit up on her own. > > Madz sleeps a lot, for some months up to 15 hours a day, now it is > down to about 13. I'm not complaining! But I was wondering, is this > more likely to be a lack of food or because we are feeding her a lot?. > > Madz has the night-time sweating on head and back from RSS, up till > now I have fed her one extra time in her sleep, but I read about the > gastric tubes - how did you all know feeding your children was not > enough? I've got some ketone sticks but can't get a reading as there > hardly seems to be any urine. > > She also seems to have painful constipation, I tried prunes but it > made her vomit - any ideas? > > We are thinking of having a brother/sister for Madz. On the one hand > most of the websites say RSS does not run in families. On the other > hand looking through the medical papers it seems there are some cases > of more than one RSS child in a family. > More importantly is it true that girls with RSS often go on to have > families of their own who don't have RSS? > > Thanks for surviving to the end of this epic. Don't worry, next time I > feel like writing my memoirs I'll buy a diary! Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 14, 2005 Report Share Posted June 14, 2005 Hi Gillian, My name is le and my son Coby is 2 ½ yrs old and has RSS. I have 4 children and Coby is my only child affected by RSS. I believe that statistics state a very low percentage of families that have multiple children with RSS. Coby is a twin, but our pregnancies sound very similar. My ultrasound at 19 weeks showed that Coby was very small. I was sent to a specialist and they misdiagnosed my babies for the next 7 weeks. Finally at 28 weeks, and a new doctor, we were back to not having a clue as to what was causing the growth delay. Coby had a very large head in relationship to his body in his ultrasounds. I never gave it a second thought at the time. I also made weekly trips to the specialists 2 hours away to do ultrasounds and determine if that would be the week that they did a c-section to take the babies. We made it to 36 weeks. Coby was born weighing 2.4 lbs and 14 inches long compared to his sister at 5.7 lbs. and 19 inches long. Coby's head was very large until last year. His head straight lined on the growth chart and that is when we started growth hormone. Children with RSS will grow into their heads. As they get older their bodies get bigger and their heads do not look out of proportion. I have not spoken with anyone that has done surgery on their child's head for that reason. Coby was in the NICU for 4 weeks. He came home from the hospital weighting just 3.12 lbs. He was seen by a geneticist at 2 days old and he believed it was RSS. He started treating him as an RSS baby from that point but he did not make an official diagnosis until he was 8 months old, when he did not grow out of the RSS traits. Coby is what they call an " eater " . He ate from a bottle at his very first feeding and has done so every sense. He did have an ng-tube while in the NICU to help him get all the calories he didn't but did not have the apatite or the strength to eat. He was on breast milk while in the hospital and then due to my own health complication I had to stop breast feeding and he was switched to soy formula. We added extra powder and made the formula very high calorie per ounce. We also added Karo Corn Syrup to all his bottles. It added calories but it also helped with his constipation. I still use it and have not had to give him medication as of yet for his constipation. Once Coby started eating solids we never had any problem with which stage of food he ate. The only thing we still have to watch for his the amount of time he has food in his mouth. He will stuff 3 or 4 bites of food in his mouth at one time and then chew on it for hours. He has never choked, that is just the way he eats. I would be very concerned about her night sweats. You have to control her blood sugar levels. Although they may not be low at one point does not mean they are not getting low at other times. Also, her low may not be the normal low. Sometimes it also isn't the number but how fast they got to that number. I am not the best on this topic to answer you, but if you look back thru the history you will find a lot of information on blood sugar. Low blood sugar levels can effect mental development. Coby's UPD7 was negative. He has a very small amount of asymmetry. When he was an infant most doctors did not see the asymmetry. Once I took him to The MAGIC Foundation annual convention and saw Dr. Harbison she showed me the asymmetry and it had been there all along. When we took Coby's diaper off and stood him up with his back to us you could see that the creases under his butt were not even. Now that he is older you can hold his legs straight out and side by side and see the difference. Coby also slept a lot his first 18 months. It was like having a new born. He ate and slept, which didn't help with his development. However, he out grew that. By 2 yrs old he only takes one nap a day and it is a normal length of time. Welcome to our group. You have found the right place! Please, feel free to ask any questions you have at any time. le, mom to: Shye 10, Brock 8, and Coby (rss) & Carlee 2 yr old twin terrors! Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 14, 2005 Report Share Posted June 14, 2005 Hi Gillian My name is Brigitte from Hertfordshire (UK) I would just like to welcome you to the group also. I have a daughter Bobbi who is 15 months old with RSS so feel free to e mail me with any questions you may have and I will try to help although I must say Madz is a far better eater than Bobbi she is still mainly on milk still. my private e mail address is brigitte.foreman@... Take care x New UK Post Hello everyone, my name is Gillian, I live in London. This is my first posting. I found this discussion group a week ago and have found it incredibly useful so far. Thanks. My only child Madeleine (Madz) is 9 months tomorrow and we have suspected she has RSS for some time as she seems to have all the symptoms. I thought I'd make a record of the process of realisation that our daughter has RSS, as all the signs were there from the 20 week scan, and yet noone put two and two together. I should probably have split this up into a number of emails as it is so long. Please feel free to delete this if other people's medical details bore you! Madz was diagnosed with a cleft palate at the 20 week scan and also a high head circumference to abdominal ratio. They also noticed doxyocephally ie. oval head shape. There was very little amniotic fluid so they took a careful look at her kidneys under the ultrasound, they were fine. At this stage we were advised to go for an amnio which was normal girl 46XX. (Thank goodness there is no test for RSS at this stage, or we may have made the wrong decision). A cardio specialist also gave her a heart scan whilst still in the womb; everything was fine. After that we went for weekly scans and the Drs measured the resistance in the umbilical cord, bloodflow was always positive (ie in the right direction) but outside the normal range by quite a long way. It seems from earlier postings that this may be used in the future to diagnose RSS. From 29 weeks we were on standby for an emergency Caesarean, but luckily (as the high resistance was presumably all due to RSS!) she went to 37 weeks and was born 3lbs 10z. When she was born she had a very obviously bullet shaped head (from the top looking towards her face)which I put down to lack of fluid and being squashed in the womb, however the childgrowthfoundation.org.uk says this is an RSS feature. Her head shape hasn't changed, and has grown steadily along the 50th centile since birth. Her weight dropped initially whilst on expressed breast milk but recovered on Nutraprem to about 2 SDs? below the 0.4th centile throughout. She was 10lbs 2oz at 8 months. I also noticed her bossed forehead on the day she was born, but I have a big forehead so thought it was probably inherited. I remember thinking that it was bizarre that the geneticist saw her on day 2 and seemed to obsess about her curving 5th fingers. Anyway still noone mentioned RSS. She stayed 3 weeks in SCBU while we found a bottle she could use with her cleft, but she took much longer to find one than most cleft palate babies (probably due to RSS feeding issues?) - in the end a Mead squeezy bottle with a normal teat worked. Still eating was slow: 40 minutes for 30 mls. She was able to drink from the bottle well enough to leave the hospital at 3 weeks. We went from Nutraprem 2 to SMA High energy (she hated) to Infatrini - which she still has. Anyway although it wasn't an easy journey, between 3 months and 5 months she was having as much as 600 mls of infatrini a day, a full time job for me squeezing it into her. - reading your posts, this sounds like a lot and I wonder whether having the ability to squeeze milk into her mouth has allowed us to feed her a lot more and therefore got her strength up well enough to start to enjoy eating. On the negative side it could have been the cause of bronchitus. However she is on solids now (1st stage) and today wolfed down 4 125ml jars plus 2 60 ml petit filous plus 250mls of milk, which seems like a lot of calories but not much liquid to me. I've also heard that problems seem to start with stage 2. Is that true? One thing I am confused about is that even though she is eating all these calories she still gets nighttime sweats. Is this familiar to anyone? When we had her palate repaired I asked the nurse to take 4 hourly blood sugar tests and despite being stressed from the op and not eating for a day or two they were not too low (5 to 6). We had a meeting with the geneticist at 6 months who initially thought it was fetal alcohol syndrome (she has haematomas on her face). This was the first time I had felt really down since Madz was borne, it just felt like a kick in the teeth, but explained why the visiting nurses had come round so often! I explained Madz was planned and I didn't drink for the first trimester (thank goodness or I would be blaming myself now). The Dr commented that Madz also has the RSS small triangular face, thin downward sloping lips but no obvious asymmetry. She suggested RSS, and as there was no asymmetry the UPD7 may be more likely to be positive. We have had bloods taken for UPD7 but no results yet. However when Madz had her cleft palate repair last month, the surgeon came to me afterwards and said " I noticed when we looked at her that there are some asymmetries in her skull, we recommend that you see the cranio facial plastic surgery team. Lets just say I saw some of the patients who had had this done and it looks like a BIG operation. I asked him if he knew that asymmetry was a symptom of RSS (of course he hadn't read the notes). While she was in hospital we also asked to see the endocine team - who took lots of blood for a full pituitary scan. We are waiting for the results. We also had a developmental assessment at 7 months which said that Madz was 2 months delayed for gross motor skills and will probably not crawl but go straight to walking - her arms are very weak and she lacks muscles under her armpits. She was also 2 months delayed on fine motor skills which surprised me, and oral communication - she cannot do consonants - could be the cleft or RSS oral motor skills. But (DRUMROLL) she is ahead by a month on social skills HURRAH! (I was so proud - after all that's the most important thing at the end of the day) So that is the current situation, Madz is seeing 5 teams of consultants: cleft palate, craniofacial, developmental & nutrician, endocrine and geneticists. If she ends up having growth hormone as well I think I can safely say we are getting value for money from our taxes! Anyway - I have so many questions! I have read that cleft palate " is occasionally seen with RSS " does anyone have any experience of this? Does anyone have any evidence of haematomas (strawberry birthmarks) with RSS? Has anyone had or refused plastic surgery to correct the RSS head shape? What was your experience of this? Was it for cosmetic reasons or survival? I notice from earlier postings that RSS growth charts for girls exist - would anyone be able to email me one of them? When did your RSS children start to crawl/walk/talk? Madz has only just started to sit up on her own. Madz sleeps a lot, for some months up to 15 hours a day, now it is down to about 13. I'm not complaining! But I was wondering, is this more likely to be a lack of food or because we are feeding her a lot?. Madz has the night-time sweating on head and back from RSS, up till now I have fed her one extra time in her sleep, but I read about the gastric tubes - how did you all know feeding your children was not enough? I've got some ketone sticks but can't get a reading as there hardly seems to be any urine. She also seems to have painful constipation, I tried prunes but it made her vomit - any ideas? We are thinking of having a brother/sister for Madz. On the one hand most of the websites say RSS does not run in families. On the other hand looking through the medical papers it seems there are some cases of more than one RSS child in a family. More importantly is it true that girls with RSS often go on to have families of their own who don't have RSS? Thanks for surviving to the end of this epic. Don't worry, next time I feel like writing my memoirs I'll buy a diary! ------------------------------------------------------------------------------ Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 14, 2005 Report Share Posted June 14, 2005 Gillian, I haven't read everyone else's replies, so I am going to cut to the chase. Call Stanhope in London and make an appt ASAP. Besides Harbison in New York City, has the most experience with RSS kids, and has an AWESOME bedside manner. GReat with parents and kids. He is a pediatric endocrinologist, and will be able to confirm a diagnosis as well as answer all of your questions. Institute of Child Health 30 Guildford St. London WC1N 1EH Email is R.Stanhope@... I don't have his phone number. Skull asymmetry is not something that is a common characteristics for RSS in and of itself. Facial asymmetry is quite common in many children, not just RSS. So if the child has skull/facial asymmetry all by itself, that is not considered the " limb asymmetry " that is characteristic of RSS. Hope I make sense. I have heard of no one having skull surgery. Several children have had mandible expansion surgery in severely small jaws, which allows extra space in the lower jaw while also making the facial appearance improve. There is no official information stating that RSS women are infertile. Some discussions about higher incidence of miscarriages (but healthy babies) and ovarian issues that might also make getting pregnant tougher, but not infertile. What else. Nighttime sweats can not just be from hypoglycemia, but may also be a genetic component of RSS, with nothing you can do. If she is taking a feeding at bedtime, and isn't sleeping 10 hours without feeding (and her ketones are normal in the morning) then the sweats are probably just a part of the RSS. Good luck! Welcome to the listserve! jennifer Salem, , age 9 1/2, RSS > Hello everyone, my name is Gillian, I live in London. This is my first > posting. I found this discussion group a week ago and have found it > incredibly useful so far. Thanks. > > My only child Madeleine (Madz) is 9 months tomorrow and we have > suspected she has RSS for some time as she seems to have all the > symptoms. I thought I'd make a record of the process of realisation > that our daughter has RSS, as all the signs were there from the 20 > week scan, and yet noone put two and two together. > > I should probably have split this up into a number of emails as it is > so long. Please feel free to delete this if other people's medical > details bore you! > > Madz was diagnosed with a cleft palate at the 20 week scan and also a > high head circumference to abdominal ratio. They also noticed > doxyocephally ie. oval head shape. There was very little amniotic > fluid so they took a careful look at her kidneys under the ultrasound, > they were fine. At this stage we were advised to go for an amnio which > was normal girl 46XX. (Thank goodness there is no test for RSS at this > stage, or we may have made the wrong decision). A cardio specialist > also gave her a heart scan whilst still in the womb; everything was > fine. After that we went for weekly scans and the Drs measured the > resistance in the umbilical cord, bloodflow was always positive (ie in > the right direction) but outside the normal range by quite a long way. > It seems from earlier postings that this may be used in the future to > diagnose RSS. From 29 weeks we were on standby for an emergency > Caesarean, but luckily (as the high resistance was presumably all due > to RSS!) she went to 37 weeks and was born 3lbs 10z. > When she was born she had a very obviously bullet shaped head (from > the top looking towards her face)which I put down to lack of fluid and > being squashed in the womb, however the childgrowthfoundation.org.uk > says this is an RSS feature. Her head shape hasn't changed, and has > grown steadily along the 50th centile since birth. Her weight dropped > initially whilst on expressed breast milk but recovered on Nutraprem > to about 2 SDs? below the 0.4th centile throughout. She was 10lbs 2oz > at 8 months. I also noticed her bossed forehead on the day she was > born, but I have a big forehead so thought it was probably inherited. > I remember thinking that it was bizarre that the geneticist saw her on > day 2 and seemed to obsess about her curving 5th fingers. Anyway still > noone mentioned RSS. > > She stayed 3 weeks in SCBU while we found a bottle she could use with > her cleft, but she took much longer to find one than most cleft palate > babies (probably due to RSS feeding issues?) - in the end a Mead > squeezy bottle with a normal teat worked. Still eating was > slow: 40 minutes for 30 mls. She was able to drink from the bottle > well enough to leave the hospital at 3 weeks. We went from Nutraprem > 2 to SMA High energy (she hated) to Infatrini - which she still has. > > Anyway although it wasn't an easy journey, between 3 months and 5 > months she was having as much as 600 mls of infatrini a day, a full > time job for me squeezing it into her. - reading your posts, this > sounds like a lot and I wonder whether having the ability to squeeze > milk into her mouth has allowed us to feed her a lot more and > therefore got her strength up well enough to start to enjoy eating. > On the negative side it could have been the cause of bronchitus. > However she is on solids now (1st stage) and today wolfed down 4 125ml > jars plus 2 60 ml petit filous plus 250mls of milk, which seems like a > lot of calories but not much liquid to me. I've also heard that > problems seem to start with stage 2. Is that true? > > One thing I am confused about is that even though she is eating all > these calories she still gets nighttime sweats. Is this familiar to > anyone? When we had her palate repaired I asked the nurse to take 4 > hourly blood sugar tests and despite being stressed from the op and > not eating for a day or two they were not too low (5 to 6). > > We had a meeting with the geneticist at 6 months who initially thought > it was fetal alcohol syndrome (she has haematomas on her face). This > was the first time I had felt really down since Madz was borne, it > just felt like a kick in the teeth, but explained why the visiting > nurses had come round so often! > I explained Madz was planned and I didn't drink for the first > trimester (thank goodness or I would be blaming myself now). The Dr > commented that Madz also has the RSS small triangular face, thin > downward sloping lips but no obvious asymmetry. She suggested RSS, > and as there was no asymmetry the UPD7 may be more likely to be > positive. > We have had bloods taken for UPD7 but no results yet. > > However when Madz had her cleft palate repair last month, the surgeon > came to me afterwards and said " I noticed when we looked at her that > there are some asymmetries in her skull, we recommend that you see the > cranio facial plastic surgery team. Lets just say I saw some of the > patients who had had this done and it looks like a BIG operation. I > asked him if he knew that asymmetry was a symptom of RSS (of course he > hadn't read the notes). > > While she was in hospital we also asked to see the endocine team - who > took lots of blood for a full pituitary scan. We are waiting for the > results. > > We also had a developmental assessment at 7 months which said that > Madz was 2 months delayed for gross motor skills and will probably not > crawl but go straight to walking - her arms are very weak and she > lacks muscles under her armpits. She was also 2 months delayed on > fine motor skills which surprised me, and oral communication - she > cannot do consonants - could be the cleft or RSS oral motor skills. > But (DRUMROLL) she is ahead by a month on social skills HURRAH! (I was > so proud - after all that's the most important thing at the end of the > day) > > So that is the current situation, Madz is seeing 5 teams of > consultants: cleft palate, craniofacial, developmental & nutrician, > endocrine and geneticists. If she ends up having growth hormone as > well I think I can safely say we are getting value for money from our > taxes! > > Anyway - I have so many questions! > > I have read that cleft palate " is occasionally seen with RSS " does > anyone have any experience of this? > > Does anyone have any evidence of haematomas (strawberry birthmarks) > with RSS? > > Has anyone had or refused plastic surgery to correct the RSS head > shape? What was your experience of this? Was it for cosmetic reasons > or survival? > > I notice from earlier postings that RSS growth charts for girls exist - > would anyone be able to email me one of them? > > When did your RSS children start to crawl/walk/talk? Madz has only > just started to sit up on her own. > > Madz sleeps a lot, for some months up to 15 hours a day, now it is > down to about 13. I'm not complaining! But I was wondering, is this > more likely to be a lack of food or because we are feeding her a lot?. > > Madz has the night-time sweating on head and back from RSS, up till > now I have fed her one extra time in her sleep, but I read about the > gastric tubes - how did you all know feeding your children was not > enough? I've got some ketone sticks but can't get a reading as there > hardly seems to be any urine. > > She also seems to have painful constipation, I tried prunes but it > made her vomit - any ideas? > > We are thinking of having a brother/sister for Madz. On the one hand > most of the websites say RSS does not run in families. On the other > hand looking through the medical papers it seems there are some cases > of more than one RSS child in a family. > More importantly is it true that girls with RSS often go on to have > families of their own who don't have RSS? > > Thanks for surviving to the end of this epic. Don't worry, next time I > feel like writing my memoirs I'll buy a diary! Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 15, 2005 Report Share Posted June 15, 2005 Thanks for everyone's comments - extreemly useful. Sorry I don't have time to write much at the moment in reply, but just to let you know that although we have been referred to one of the five consultants in Great Ormond Street endocrine division, we have been put on Dr C Brain's list for our appointment in 10 days time. They would have sent us to Dr Stanhope but he is aparently on long term sick leave - I don't know what the problem is. I will try to find out if it is serious. Brock wrote:Gillian, I haven't read everyone else's replies, so I am going to cut to the chase. Call Stanhope in London and make an appt ASAP. Besides Harbison in New York City, has the most experience with RSS kids, and has an AWESOME bedside manner. GReat with parents and kids. He is a pediatric endocrinologist, and will be able to confirm a diagnosis as well as answer all of your questions. Institute of Child Health 30 Guildford St. London WC1N 1EH Email is R.Stanhope@... I don't have his phone number. Skull asymmetry is not something that is a common characteristics for RSS in and of itself. Facial asymmetry is quite common in many children, not just RSS. So if the child has skull/facial asymmetry all by itself, that is not considered the " limb asymmetry " that is characteristic of RSS. Hope I make sense. I have heard of no one having skull surgery. Several children have had mandible expansion surgery in severely small jaws, which allows extra space in the lower jaw while also making the facial appearance improve. There is no official information stating that RSS women are infertile. Some discussions about higher incidence of miscarriages (but healthy babies) and ovarian issues that might also make getting pregnant tougher, but not infertile. What else. Nighttime sweats can not just be from hypoglycemia, but may also be a genetic component of RSS, with nothing you can do. If she is taking a feeding at bedtime, and isn't sleeping 10 hours without feeding (and her ketones are normal in the morning) then the sweats are probably just a part of the RSS. Good luck! Welcome to the listserve! jennifer Salem, , age 9 1/2, RSS > Hello everyone, my name is Gillian, I live in London. This is my first > posting. I found this discussion group a week ago and have found it > incredibly useful so far. Thanks. > > My only child Madeleine (Madz) is 9 months tomorrow and we have > suspected she has RSS for some time as she seems to have all the > symptoms. I thought I'd make a record of the process of realisation > that our daughter has RSS, as all the signs were there from the 20 > week scan, and yet noone put two and two together. > > I should probably have split this up into a number of emails as it is > so long. Please feel free to delete this if other people's medical > details bore you! > > Madz was diagnosed with a cleft palate at the 20 week scan and also a > high head circumference to abdominal ratio. They also noticed > doxyocephally ie. oval head shape. There was very little amniotic > fluid so they took a careful look at her kidneys under the ultrasound, > they were fine. At this stage we were advised to go for an amnio which > was normal girl 46XX. (Thank goodness there is no test for RSS at this > stage, or we may have made the wrong decision). A cardio specialist > also gave her a heart scan whilst still in the womb; everything was > fine. After that we went for weekly scans and the Drs measured the > resistance in the umbilical cord, bloodflow was always positive (ie in > the right direction) but outside the normal range by quite a long way. > It seems from earlier postings that this may be used in the future to > diagnose RSS. From 29 weeks we were on standby for an emergency > Caesarean, but luckily (as the high resistance was presumably all due > to RSS!) she went to 37 weeks and was born 3lbs 10z. > When she was born she had a very obviously bullet shaped head (from > the top looking towards her face)which I put down to lack of fluid and > being squashed in the womb, however the childgrowthfoundation.org.uk > says this is an RSS feature. Her head shape hasn't changed, and has > grown steadily along the 50th centile since birth. Her weight dropped > initially whilst on expressed breast milk but recovered on Nutraprem > to about 2 SDs? below the 0.4th centile throughout. She was 10lbs 2oz > at 8 months. I also noticed her bossed forehead on the day she was > born, but I have a big forehead so thought it was probably inherited. > I remember thinking that it was bizarre that the geneticist saw her on > day 2 and seemed to obsess about her curving 5th fingers. Anyway still > noone mentioned RSS. > > She stayed 3 weeks in SCBU while we found a bottle she could use with > her cleft, but she took much longer to find one than most cleft palate > babies (probably due to RSS feeding issues?) - in the end a Mead > squeezy bottle with a normal teat worked. Still eating was > slow: 40 minutes for 30 mls. She was able to drink from the bottle > well enough to leave the hospital at 3 weeks. We went from Nutraprem > 2 to SMA High energy (she hated) to Infatrini - which she still has. > > Anyway although it wasn't an easy journey, between 3 months and 5 > months she was having as much as 600 mls of infatrini a day, a full > time job for me squeezing it into her. - reading your posts, this > sounds like a lot and I wonder whether having the ability to squeeze > milk into her mouth has allowed us to feed her a lot more and > therefore got her strength up well enough to start to enjoy eating. > On the negative side it could have been the cause of bronchitus. > However she is on solids now (1st stage) and today wolfed down 4 125ml > jars plus 2 60 ml petit filous plus 250mls of milk, which seems like a > lot of calories but not much liquid to me. I've also heard that > problems seem to start with stage 2. Is that true? > > One thing I am confused about is that even though she is eating all > these calories she still gets nighttime sweats. Is this familiar to > anyone? When we had her palate repaired I asked the nurse to take 4 > hourly blood sugar tests and despite being stressed from the op and > not eating for a day or two they were not too low (5 to 6). > > We had a meeting with the geneticist at 6 months who initially thought > it was fetal alcohol syndrome (she has haematomas on her face). This > was the first time I had felt really down since Madz was borne, it > just felt like a kick in the teeth, but explained why the visiting > nurses had come round so often! > I explained Madz was planned and I didn't drink for the first > trimester (thank goodness or I would be blaming myself now). The Dr > commented that Madz also has the RSS small triangular face, thin > downward sloping lips but no obvious asymmetry. She suggested RSS, > and as there was no asymmetry the UPD7 may be more likely to be > positive. > We have had bloods taken for UPD7 but no results yet. > > However when Madz had her cleft palate repair last month, the surgeon > came to me afterwards and said " I noticed when we looked at her that > there are some asymmetries in her skull, we recommend that you see the > cranio facial plastic surgery team. Lets just say I saw some of the > patients who had had this done and it looks like a BIG operation. I > asked him if he knew that asymmetry was a symptom of RSS (of course he > hadn't read the notes). > > While she was in hospital we also asked to see the endocine team - who > took lots of blood for a full pituitary scan. We are waiting for the > results. > > We also had a developmental assessment at 7 months which said that > Madz was 2 months delayed for gross motor skills and will probably not > crawl but go straight to walking - her arms are very weak and she > lacks muscles under her armpits. She was also 2 months delayed on > fine motor skills which surprised me, and oral communication - she > cannot do consonants - could be the cleft or RSS oral motor skills. > But (DRUMROLL) she is ahead by a month on social skills HURRAH! (I was > so proud - after all that's the most important thing at the end of the > day) > > So that is the current situation, Madz is seeing 5 teams of > consultants: cleft palate, craniofacial, developmental & nutrician, > endocrine and geneticists. If she ends up having growth hormone as > well I think I can safely say we are getting value for money from our > taxes! > > Anyway - I have so many questions! > > I have read that cleft palate " is occasionally seen with RSS " does > anyone have any experience of this? > > Does anyone have any evidence of haematomas (strawberry birthmarks) > with RSS? > > Has anyone had or refused plastic surgery to correct the RSS head > shape? What was your experience of this? Was it for cosmetic reasons > or survival? > > I notice from earlier postings that RSS growth charts for girls exist - > would anyone be able to email me one of them? > > When did your RSS children start to crawl/walk/talk? Madz has only > just started to sit up on her own. > > Madz sleeps a lot, for some months up to 15 hours a day, now it is > down to about 13. I'm not complaining! But I was wondering, is this > more likely to be a lack of food or because we are feeding her a lot?. > > Madz has the night-time sweating on head and back from RSS, up till > now I have fed her one extra time in her sleep, but I read about the > gastric tubes - how did you all know feeding your children was not > enough? I've got some ketone sticks but can't get a reading as there > hardly seems to be any urine. > > She also seems to have painful constipation, I tried prunes but it > made her vomit - any ideas? > > We are thinking of having a brother/sister for Madz. On the one hand > most of the websites say RSS does not run in families. On the other > hand looking through the medical papers it seems there are some cases > of more than one RSS child in a family. > More importantly is it true that girls with RSS often go on to have > families of their own who don't have RSS? > > Thanks for surviving to the end of this epic. Don't worry, next time I > feel like writing my memoirs I'll buy a diary! --------------------------------- Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 15, 2005 Report Share Posted June 15, 2005 Hi Gillian, Welcome to the board. I don't post on here too often, but I do read the posts. I am really pleased to see you post here, as you were kind enough to visit our fundraising page for the Hadrian's Wall Walk, thank you. Anyway, we live in Kingston, Surrey - whereabouts are you? It would be lovely to meet up. is now 3, and on the whole, things ar going OK. We have our ups and downs with eating and weight gain/loss - our latest thing is consitpation - but I have to say things have defintely got easier as time has gone along, if nothing more than just that can tell me things/communicate with me now that she talks. If you would like to email me, my address is above. I would love to learn more about Madz. Her story sounds very smiliar to 's - she was also noticed to be small in utero at the 20 weeks scan, and we ended up having weekly growth scans until 34 weeks, when they finally decided she would be 'better out than in' - she was delivered by c-section at 3lbs 3oz. also used to sweat a lot (doesn't seem to as much now) however whenever we had her blood sugars measured they were always within standard levels (between 4-7) so the docs didn't think she was hypoglycaemic. She also displayed all the symptoms of reflux but two ph probes have shown up negative, so she is just on Gaviscon now when she has bad episodes (usualyl related to coughing from an infection - she is sick very easily). Madz sounds like a very good eater!! (4 jars .. wow .. unheard of here! 4 spoonfuls is a victory!). was very picky with her food when she was younger and would only ever eat very small amounts, although she is better now, and I think (hope) that we get enough calories into her that way. She still drinks 4 bottles of Nutrini Hi-energy per day, and that helps. (not sure what I will do when she tells me that bottles are for babies!) Anyway, I would love it if you got in touch, it would be nice to meet seeing as we are in the same area! Also the Child Growth Foundation convention is an excellent place to meet others and swap stories, aswell as to hear Dr Stanhope talk - this year the convention is on 1st October. Look forward to hearing from you Rae mum to , aged 3, RSS, 86cm, 22lbs 11oz --------------------------------------------------------------------- Hadrian's Wall Walk frmo 22nd to 26th June - in aid of the Child Growth Foundation - please visit www.justgiving.co.uk/cgfhadrianswall for details > Hello everyone, my name is Gillian, I live in London. This is my first > posting. I found this discussion group a week ago and have found it > incredibly useful so far. Thanks. > > My only child Madeleine (Madz) is 9 months tomorrow and we have > suspected she has RSS for some time as she seems to have all the > symptoms. I thought I'd make a record of the process of realisation > that our daughter has RSS, as all the signs were there from the 20 > week scan, and yet noone put two and two together. > > I should probably have split this up into a number of emails as it is > so long. Please feel free to delete this if other people's medical > details bore you! > > Madz was diagnosed with a cleft palate at the 20 week scan and also a > high head circumference to abdominal ratio. They also noticed > doxyocephally ie. oval head shape. There was very little amniotic > fluid so they took a careful look at her kidneys under the ultrasound, > they were fine. At this stage we were advised to go for an amnio which > was normal girl 46XX. (Thank goodness there is no test for RSS at this > stage, or we may have made the wrong decision). A cardio specialist > also gave her a heart scan whilst still in the womb; everything was > fine. After that we went for weekly scans and the Drs measured the > resistance in the umbilical cord, bloodflow was always positive (ie in > the right direction) but outside the normal range by quite a long way. > It seems from earlier postings that this may be used in the future to > diagnose RSS. From 29 weeks we were on standby for an emergency > Caesarean, but luckily (as the high resistance was presumably all due > to RSS!) she went to 37 weeks and was born 3lbs 10z. > When she was born she had a very obviously bullet shaped head (from > the top looking towards her face)which I put down to lack of fluid and > being squashed in the womb, however the childgrowthfoundation.org.uk > says this is an RSS feature. Her head shape hasn't changed, and has > grown steadily along the 50th centile since birth. Her weight dropped > initially whilst on expressed breast milk but recovered on Nutraprem > to about 2 SDs? below the 0.4th centile throughout. She was 10lbs 2oz > at 8 months. I also noticed her bossed forehead on the day she was > born, but I have a big forehead so thought it was probably inherited. > I remember thinking that it was bizarre that the geneticist saw her on > day 2 and seemed to obsess about her curving 5th fingers. Anyway still > noone mentioned RSS. > > She stayed 3 weeks in SCBU while we found a bottle she could use with > her cleft, but she took much longer to find one than most cleft palate > babies (probably due to RSS feeding issues?) - in the end a Mead > squeezy bottle with a normal teat worked. Still eating was > slow: 40 minutes for 30 mls. She was able to drink from the bottle > well enough to leave the hospital at 3 weeks. We went from Nutraprem > 2 to SMA High energy (she hated) to Infatrini - which she still has. > > Anyway although it wasn't an easy journey, between 3 months and 5 > months she was having as much as 600 mls of infatrini a day, a full > time job for me squeezing it into her. - reading your posts, this > sounds like a lot and I wonder whether having the ability to squeeze > milk into her mouth has allowed us to feed her a lot more and > therefore got her strength up well enough to start to enjoy eating. > On the negative side it could have been the cause of bronchitus. > However she is on solids now (1st stage) and today wolfed down 4 125ml > jars plus 2 60 ml petit filous plus 250mls of milk, which seems like a > lot of calories but not much liquid to me. I've also heard that > problems seem to start with stage 2. Is that true? > > One thing I am confused about is that even though she is eating all > these calories she still gets nighttime sweats. Is this familiar to > anyone? When we had her palate repaired I asked the nurse to take 4 > hourly blood sugar tests and despite being stressed from the op and > not eating for a day or two they were not too low (5 to 6). > > We had a meeting with the geneticist at 6 months who initially thought > it was fetal alcohol syndrome (she has haematomas on her face). This > was the first time I had felt really down since Madz was borne, it > just felt like a kick in the teeth, but explained why the visiting > nurses had come round so often! > I explained Madz was planned and I didn't drink for the first > trimester (thank goodness or I would be blaming myself now). The Dr > commented that Madz also has the RSS small triangular face, thin > downward sloping lips but no obvious asymmetry. She suggested RSS, > and as there was no asymmetry the UPD7 may be more likely to be > positive. > We have had bloods taken for UPD7 but no results yet. > > However when Madz had her cleft palate repair last month, the surgeon > came to me afterwards and said " I noticed when we looked at her that > there are some asymmetries in her skull, we recommend that you see the > cranio facial plastic surgery team. Lets just say I saw some of the > patients who had had this done and it looks like a BIG operation. I > asked him if he knew that asymmetry was a symptom of RSS (of course he > hadn't read the notes). > > While she was in hospital we also asked to see the endocine team - who > took lots of blood for a full pituitary scan. We are waiting for the > results. > > We also had a developmental assessment at 7 months which said that > Madz was 2 months delayed for gross motor skills and will probably not > crawl but go straight to walking - her arms are very weak and she > lacks muscles under her armpits. She was also 2 months delayed on > fine motor skills which surprised me, and oral communication - she > cannot do consonants - could be the cleft or RSS oral motor skills. > But (DRUMROLL) she is ahead by a month on social skills HURRAH! (I was > so proud - after all that's the most important thing at the end of the > day) > > So that is the current situation, Madz is seeing 5 teams of > consultants: cleft palate, craniofacial, developmental & nutrician, > endocrine and geneticists. If she ends up having growth hormone as > well I think I can safely say we are getting value for money from our > taxes! > > Anyway - I have so many questions! > > I have read that cleft palate " is occasionally seen with RSS " does > anyone have any experience of this? > > Does anyone have any evidence of haematomas (strawberry birthmarks) > with RSS? > > Has anyone had or refused plastic surgery to correct the RSS head > shape? What was your experience of this? Was it for cosmetic reasons > or survival? > > I notice from earlier postings that RSS growth charts for girls exist - > would anyone be able to email me one of them? > > When did your RSS children start to crawl/walk/talk? Madz has only > just started to sit up on her own. > > Madz sleeps a lot, for some months up to 15 hours a day, now it is > down to about 13. I'm not complaining! But I was wondering, is this > more likely to be a lack of food or because we are feeding her a lot?. > > Madz has the night-time sweating on head and back from RSS, up till > now I have fed her one extra time in her sleep, but I read about the > gastric tubes - how did you all know feeding your children was not > enough? I've got some ketone sticks but can't get a reading as there > hardly seems to be any urine. > > She also seems to have painful constipation, I tried prunes but it > made her vomit - any ideas? > > We are thinking of having a brother/sister for Madz. On the one hand > most of the websites say RSS does not run in families. On the other > hand looking through the medical papers it seems there are some cases > of more than one RSS child in a family. > More importantly is it true that girls with RSS often go on to have > families of their own who don't have RSS? > > Thanks for surviving to the end of this epic. Don't worry, next time I > feel like writing my memoirs I'll buy a diary! Quote Link to comment Share on other sites More sharing options...
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