Guest guest Posted August 16, 2004 Report Share Posted August 16, 2004 Maize Hello All, I joined your group a week ago in hopes to educate myself a little on RSS. We just had an appointment with a geneticist last week for our 12 month old son, Landen. After a very thorough interview and exam, she stated that she felt he might have RSS. She based this on: his low weight (17.4#/12 months), several cafe au lait spots on his trunk, large forehead, low muscle tone and enlarged liver. He has always been a good eater and right now is in love with table food! He has had physical and occupational therapy 3X week since 3 months of age and wears glasses with prism lenses to help strengthen his eyes. He is also getting fitted for ankle/foot orthotics to help with his muscle tone while he stands and hopefully walks. We have had extensive neurological testing done (bloodwork, MRI) to find a reason for his low muscle tone and did not find anything. The geneticist will do bloodwork, bone age scan, and ultrasound on the liver this fall. My husband and I will also have bloodwork done? Here are a few questions if anyone has time to answer? 1. Does EVERY child with RSS have incurved pinkies? Landen does not, but his pinkie toes are incurved. 2. Are there specific characteristics that EVERY child has and some that are variable? 3. When does the growth delay typically happen? Is it always prenatal onset? 4. Are there any other genetic disorders that look like RSS that might fit his characteristics? 4. Any other advice or thoughts that I should be considering. Our testing is in October and then will have a follow-up with the geneticist. Thanks for the information! Cheryl Bremer Warsaw, IN Mother to Evan-6, Jenna-4, and Landen-1 TODAY!! Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 16, 2004 Report Share Posted August 16, 2004 Hi Cheryl- Welcome aboard and happy birthday to Layden! My name is Sharon and I'm an adult (38) who has RSS. The MAGIC foundation is (quoted from their website) " ...a national nonprofit organization created to provide support services for the families of children afflicted with a wide variety of chronic and/or critical disorders, syndromes and diseases that affect a child's growth. Some of the diagnoses are quite common while others are very rare. " I recommend that you go to the MAGIC Foundation's website, which is http://www.magicfoundation.org/default.htm and follow the links for a description of RSS. I don't believe that there are ANY symptoms that ALL of us have, but there are a LOT of symptoms that a LOT of us have. If it turns out that Layden DOES, indeed, have RSS, I'd STRONGLY recommend joining MAGIC...it's a WONDERFUL organization! Unlike when I was young (heck, I wasn't even diagnosed until I was 15 years old!), there are a lot of treatment options for RSS out there, to help with issues such as growth, appetite (not a problem for Layden...congrats! That's half the battle!), gut motility, etc. Again, welcome! -Sharon- Just an RSS kid who grew up 38Y 5M, 4'6.75 " , 96# Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 16, 2004 Report Share Posted August 16, 2004 Cheryl - What was Landen's gestational age, and his birth weight, birth length and head circumference? My name is and I have an 8 1/2 year old daughter with RSS. The good news is that your son's weight is VERY good for an RSS child, way above average. So although looking at him compared to your other children may scare you, the good news is that he is doing well. I recommend that you do a couple of things (as many children are misdiagnosed with RSS). First of all, go to www.magicfoundation. org and go to the RSS and their SGA divisions and read the information we have written and posted (Katy F. and I are the current volunteer heads for the divisions -- it is the only support group in the US so we depend greatly on parents for volunteers!). Read through the list of characteristics, this list will describe what are more exclusive to RSS vs SGA, and other more common ones. No single characteristic is in ALL RSS children, although the triangular shaped faces and bossed forehead are reported to be in the vast majority (90%+) of RSS younger children. If your son was born under 5lbs 5 oz and 17 1/2 inches long corrected gestational age, regardless of whether he is RSS he is small-for-gestational age. And the intrinsic problems are the same and the treatment is the same. We have a lot of documents that we have written in conjunction with a peds endo in NY (she has 130 RSS/SGA patients, the most of anyone in the US, about 15 times more than anyone else, HA!). Anyway, as a member of MAGIC, you can get free copies of all these documents, and also we have a library of about 150 medical journal articles on RSS and SGA. The log we have created in Microsoft Excel has the last column where Katy and I have added a brief summary of each article, to make it easier for families to decide which articles you might want. What else. Oh, go through the Photos section of this listserve. Some of the children are diagnosed RSS and others are SGA. You will usually see the difference. There is a certain " look " to most RSS younger children. Also, the DNA testing that they are doing on you, your husband and Landon is testing for uniparental disomy 7. This is where instead of correctly getting one chromosome 7 from you and one from his dad, he got BOTH from you. This is when a child tests positive for " UPD#7 " or matUPD7. However, this is found in only 10% of RSS cases, AND the children who usually test positive have slightly more squarish faces, AND UPD7 kids are found in OTHER short stature syndromes as well, so it is NOT a diagnosis for RSS, unfortunately. I hope this helps as a start. Call MAGIC 800-3MAGIC3 and they can mail you the pamphlets and other info that are on-line, or you can just go online. Don't hesitate to ask us any questions. Salem (, age 8.5yrs, 53lbs, 53 " , growth hormone, periactin, prevacid, zantac, miralax -- for reflux, delayed gastric emptying and constipation, despite having a HUGE appetite for an RSS child). > Maize > > Hello All, > I joined your group a week ago in hopes to educate myself a little on RSS. We just had an appointment with a geneticist last week for our 12 month old son, Landen. After a very thorough interview and exam, she stated that she felt he might have RSS. She based this on: his low weight (17.4#/12 months), several cafe au lait spots on his trunk, large forehead, low muscle tone and enlarged liver. He has always been a good eater and right now is in love with table food! He has had physical and occupational therapy 3X week since 3 months of age and wears glasses with prism lenses to help strengthen his eyes. He is also getting fitted for ankle/foot orthotics to help with his muscle tone while he stands and hopefully walks. We have had extensive neurological testing done (bloodwork, MRI) to find a reason for his low muscle tone and did not find anything. The geneticist will do bloodwork, bone age scan, and ultrasound on the liver this fall. My husband and I will also have bloodwork done? > > Here are a few questions if anyone has time to answer? > 1. Does EVERY child with RSS have incurved pinkies? Landen does not, but his pinkie toes are incurved. > 2. Are there specific characteristics that EVERY child has and some that are variable? > 3. When does the growth delay typically happen? Is it always prenatal onset? > 4. Are there any other genetic disorders that look like RSS that might fit his characteristics? > 4. Any other advice or thoughts that I should be considering. > > Our testing is in October and then will have a follow-up with the geneticist. > > Thanks for the information! > Cheryl Bremer > Warsaw, IN > Mother to Evan-6, Jenna-4, and Landen-1 TODAY!! > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 16, 2004 Report Share Posted August 16, 2004 --HAPPY BIRTHDAY LANDEN, Don't cry to much,the big #1 is hard!! I am I cry alot sometimes, To emotional I guess , it can be a sweet commercial and I cry, But welcome to the group!!! I didn't know about RSS till My was 3 yrs old, but he has alot of the same Charecteristics, his pinkie's are in curved, he has hypospadias ,esopugitus refux, haven't heard of the toes that is neat, I have heard of webbed feet, have you heard of Dubowitz Syndrome? I thought that is what mine has but the Endo says mild RSS but he has 25 Charecteristics!!I will talk to you anytime if you want to talk more or ask more, I just know we have been through alot with him in therapy like you but B has other problems as well As Rss you can e-mail me at little1tobein2003@... and we can talk more, hugs to you and hope he has a great B-day,,, 5 yrs 28 pounds 38 inches prevacis and Growth Hormone just started 3 months ago!! OCD ODD sensory Behavioral - In RSS- Support , " & Cheryl Bremer " <cbremer@m...> wrote: > Maize > > Hello All, > I joined your group a week ago in hopes to educate myself a little on RSS. We just had an appointment with a geneticist last week for our 12 month old son, Landen. After a very thorough interview and exam, she stated that she felt he might have RSS. She based this on: his low weight (17.4#/12 months), several cafe au lait spots on his trunk, large forehead, low muscle tone and enlarged liver. He has always been a good eater and right now is in love with table food! He has had physical and occupational therapy 3X week since 3 months of age and wears glasses with prism lenses to help strengthen his eyes. He is also getting fitted for ankle/foot orthotics to help with his muscle tone while he stands and hopefully walks. We have had extensive neurological testing done (bloodwork, MRI) to find a reason for his low muscle tone and did not find anything. The geneticist will do bloodwork, bone age scan, and ultrasound on the liver this fall. My husband and I will also have bloodwork done? > > Here are a few questions if anyone has time to answer? > 1. Does EVERY child with RSS have incurved pinkies? Landen does not, but his pinkie toes are incurved. > 2. Are there specific characteristics that EVERY child has and some that are variable? > 3. When does the growth delay typically happen? Is it always prenatal onset? > 4. Are there any other genetic disorders that look like RSS that might fit his characteristics? > 4. Any other advice or thoughts that I should be considering. > > Our testing is in October and then will have a follow-up with the geneticist. > > Thanks for the information! > Cheryl Bremer > Warsaw, IN > Mother to Evan-6, Jenna-4, and Landen-1 TODAY!! > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 16, 2004 Report Share Posted August 16, 2004 Hi Cheryl Welcome to our group. I will second Sharon's message to you and encourage you to check out the Magic website. It lists the common traits of RSS, the secondary traits and the rare ones. I don't think there are any of us here that have exactly the same " characteristics " in our kids. My son is 11 1/2 years old, was diagnosed *for sure* around the age of 8, however no doctor noted anything wrong with him at all until after the age of 2. He has been on growth hormone since the age of 8 and we live in Canada. I've cut and pasted your questions below to provide some help............... Here are a few questions if anyone has time to answer? > 1. Does EVERY child with RSS have incurved pinkies? Landen does not, but his pinkie toes are incurved. - some of the kids do have the incurved pinkies (haven't heard of the toes being curved before) and some don't. My son doesn't. > 2. Are there specific characteristics that EVERY child has and some that are variable? -as already mentioned they are very diverse. The big ones are the " look " (facial features.........our kids all seem to look the same, if you look in the photos section of this yahoo site you will see many people have posted pictures of their kids); and a poor gain of weight and height based on genetic potential as measured by the parents' height. From there the characteristics are far between. A lot of the kids on this site have feeding issues........many have feeding tubes..........my son has never had that. His characteristics include the large head, the large forehead, lack of good weight/height gain, underdeveloped chin, small jaw, and undescended testicles. There is a blood test, which it sounds like your doctor is planning if you and your husband are giving blood called UPD#7. In 10% of the cases RSS kids will have this genetic marker. But that leaves 90% of RSS kids who don't have the marker. My son doesn't have it. > 3. When does the growth delay typically happen? Is it always prenatal onset? -again this varies......some of us have been told during the pregnancy that there were problems with the baby's growth or other issues and others were not aware of any problems. My son was born as scheduled, vaginally and weighed 5 lbs 3 oz. He was labeled " small for dates " but nothing was investigated or seen as a problem. Other families get a diagnosis of RSS shortly after birth. We have often wondered if it is the particular knowledge of the doctor that lends to this. > 4. Are there any other genetic disorders that look like RSS that might fit his characteristics? -not that I am aware of..........again the other characteristics can be explained away by genetics sometimes. All of the above features of RSS that my son has.............so has his father (who is definitely not RSS at 6 feet tall)..........but one thing that seems to help in my case was differentiating between growth hormone deficiency and RSS. We had a stim test done to measure the amount of growth hormone my son's body was producing. It came back normal...........so that ruled out deficiency and put it more towards RSS. > 4. Any other advice or thoughts that I should be considering. Sounds like you have all the bases covered. Looking into growth hormone therapy will be a focus for you, I would think. It's a difficult and involved decision that we, on this site, have all struggled with. Keep reading, if you have time search the archives of some past posts and ask any and all questions that you have. We have an excellent range of people here.........some with babies, toddlers, children, pre teens and teenagers. If you have a question, someone has probably already gone through it or someone else will learn from it. It's great!! All the best Debby Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 16, 2004 Report Share Posted August 16, 2004 Hi Cheryl, Welcome to the group and Happy Birthday to Landen!! I'd love to see a picture of him if you're able to post one in the photo section here. He sounds like a fairly big baby for RSS but everyone does differ. What were the weight's of your other children when they were the same age? I have 2 daughters, is 9 years old and Olivia is 4.75 years old and has RSS as well as other issues. Olivia has some of the characteristics and not others but we fight with no weight gain, reflux, constipation and a semi-poor appetite... sometimes she will eat like crazy but it just doesn't seem to stick to her. I hope that you get some questions answered, this is a great group of people here and very knowledgeable as well. Take care, Leah, mom to 9yrs and Olivia 4.75yrs, 18lbs, 33 " , RSS, OI, Lactulose, Senokot, Tums, Cyproheptadine and Losec (Prilosec) > Maize > > Hello All, > I joined your group a week ago in hopes to educate myself a little on RSS. We just had an appointment with a geneticist last week for our 12 month old son, Landen. After a very thorough interview and exam, she stated that she felt he might have RSS. She based this on: his low weight (17.4#/12 months), several cafe au lait spots on his trunk, large forehead, low muscle tone and enlarged liver. He has always been a good eater and right now is in love with table food! He has had physical and occupational therapy 3X week since 3 months of age and wears glasses with prism lenses to help strengthen his eyes. He is also getting fitted for ankle/foot orthotics to help with his muscle tone while he stands and hopefully walks. We have had extensive neurological testing done (bloodwork, MRI) to find a reason for his low muscle tone and did not find anything. The geneticist will do bloodwork, bone age scan, and ultrasound on the liver this fall. My husband and I will also have bloodwork done? > > Here are a few questions if anyone has time to answer? > 1. Does EVERY child with RSS have incurved pinkies? Landen does not, but his pinkie toes are incurved. > 2. Are there specific characteristics that EVERY child has and some that are variable? > 3. When does the growth delay typically happen? Is it always prenatal onset? > 4. Are there any other genetic disorders that look like RSS that might fit his characteristics? > 4. Any other advice or thoughts that I should be considering. > > Our testing is in October and then will have a follow-up with the geneticist. > > Thanks for the information! > Cheryl Bremer > Warsaw, IN > Mother to Evan-6, Jenna-4, and Landen-1 TODAY!! > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 16, 2004 Report Share Posted August 16, 2004 Cheryl, Welcome to the group! I have to agree with everybody else, the Magic website is awesome! My son is 11months old, and weighs 13lb 12oz. We are from IN. It is great to talk to you! If you have any questions feel free to email me at princessgs84@... Talk to you soon! le (mom to Datreon 11months, 13lb 12oz, 25.75in, assymetry, periactin, RSS) Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 16, 2004 Report Share Posted August 16, 2004 Hi and Cherly!! i just wanted to jump on the welcome wagon too!!! you have found a great group of people for support and info!! i see many have already answered your questions so i wont repeat!! except for one thing, Please check out Magic!! it is a great foundation for our children and provides endless info and support for a small yearly fee!! my son christopher is rss and is 3 1/2yrs. he is 25lbs 1oz 34 3/4 " . like you son he is an eater!! thank god!! he is on periactin (an appitite stimulant) and we are waiting to restart his ght after he is done with his caloric catch up growth. he is ADHD (possible) and attends a preschool disabled class in the elementry school where he receives some slight OT and PT. he has assmentry, his left leg is 1cm shorter than his right and his left arm and leg are thin too. he was 14lbs 10.2 oz at a year old and 26 1/2 " . he was 5lbs 10oz at birth and 18 1/2 " . my oldest son nicholas(who is 6) was 9lbs 4oz and 22 1/2 " at birth. my youngest son johnathon(who turned 1yr in june)was 8lbs 6oz and 22 1/2 " at birth. so you can see the big difference in birth weights!!! good luck and feel free to ask us any questions!! you can even email me at jlcals2003@ yahoo.com (no space after @). and HAPPY BIRTHDAY LANDEN!!!!! jodie c. (there are 4 jodis on this list) > Maize > > Hello All, > I joined your group a week ago in hopes to educate myself a little on RSS. We just had an appointment with a geneticist last week for our 12 month old son, Landen. After a very thorough interview and exam, she stated that she felt he might have RSS. She based this on: his low weight (17.4#/12 months), several cafe au lait spots on his trunk, large forehead, low muscle tone and enlarged liver. He has always been a good eater and right now is in love with table food! He has had physical and occupational therapy 3X week since 3 months of age and wears glasses with prism lenses to help strengthen his eyes. He is also getting fitted for ankle/foot orthotics to help with his muscle tone while he stands and hopefully walks. We have had extensive neurological testing done (bloodwork, MRI) to find a reason for his low muscle tone and did not find anything. The geneticist will do bloodwork, bone age scan, and ultrasound on the liver this fall. My husband and I will also have bloodwork done? > > Here are a few questions if anyone has time to answer? > 1. Does EVERY child with RSS have incurved pinkies? Landen does not, but his pinkie toes are incurved. > 2. Are there specific characteristics that EVERY child has and some that are variable? > 3. When does the growth delay typically happen? Is it always prenatal onset? > 4. Are there any other genetic disorders that look like RSS that might fit his characteristics? > 4. Any other advice or thoughts that I should be considering. > > Our testing is in October and then will have a follow-up with the geneticist. > > Thanks for the information! > Cheryl Bremer > Warsaw, IN > Mother to Evan-6, Jenna-4, and Landen-1 TODAY!! > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 21, 2004 Report Share Posted August 21, 2004 Hi Malathi & welcome- My son's RSS diagnosis was just confirmed by Dr. H at the convention in July. Although he was not premature he was born with congenital hypothyrodisim as well. His TSH levels were over 1,000!! Dr. H asked if he had a thyroid scan because levels that high usually mean the gland is absent. Since he started sinthroid in the NICU my endo has said that the scan wouldn't do any good now that he is 7 months old because he has been taking the medicine so long and the scan needs to be done before you start medicine. This listserve is a family and has helped me through tons of trying times and has been my shoulder to lean on...so I am glad you found us! Take Care, Mimi (mom to Isaac 7 mos, RSS, hypothyroid...10lbs 9 oz, 21 3/4 " (in July..next check is coming up in September) > My son was diagnosed with RSS yesterday at New York Prebyterian > Hospital. I would like to join this group and learn about all of > your experience, treatment options etc. I read a bunch of threads > from this week and noticed a lot of you are in the New York area and > see a Dr. H. There was also a discussion about a " convention " . Any > local info would be really helpful. We live in NJ. I work in NJ and > my husband works in NYC. > > My son is 2.5 years old. He is a twin (like many others in this > group - any research on that?). He weighs 20 lbs and is 32 " tall. > We have been to a number of specialists. He was born at 28 weeks > gestation and has congenital hypothyroidism. So, we had to > eliminate many other diagnoses that could have been caused by > prematurity and hypothyroidism before reaching the RSS diagnosis. > > We have been recommended GHT, but am not sure if insurance will > cover it. What has all of your experience been? > > Thank you in advance for your responses. > > -Malathi Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 21, 2004 Report Share Posted August 21, 2004 Hi Malathi & welcome- My son's RSS diagnosis was just confirmed by Dr. H at the convention in July. Although he was not premature he was born with congenital hypothyrodisim as well. His TSH levels were over 1,000!! Dr. H asked if he had a thyroid scan because levels that high usually mean the gland is absent. Since he started sinthroid in the NICU my endo has said that the scan wouldn't do any good now that he is 7 months old because he has been taking the medicine so long and the scan needs to be done before you start medicine. This listserve is a family and has helped me through tons of trying times and has been my shoulder to lean on...so I am glad you found us! Take Care, Mimi (mom to Isaac 7 mos, RSS, hypothyroid...10lbs 9 oz, 21 3/4 " (in July..next check is coming up in September) > My son was diagnosed with RSS yesterday at New York Prebyterian > Hospital. I would like to join this group and learn about all of > your experience, treatment options etc. I read a bunch of threads > from this week and noticed a lot of you are in the New York area and > see a Dr. H. There was also a discussion about a " convention " . Any > local info would be really helpful. We live in NJ. I work in NJ and > my husband works in NYC. > > My son is 2.5 years old. He is a twin (like many others in this > group - any research on that?). He weighs 20 lbs and is 32 " tall. > We have been to a number of specialists. He was born at 28 weeks > gestation and has congenital hypothyroidism. So, we had to > eliminate many other diagnoses that could have been caused by > prematurity and hypothyroidism before reaching the RSS diagnosis. > > We have been recommended GHT, but am not sure if insurance will > cover it. What has all of your experience been? > > Thank you in advance for your responses. > > -Malathi Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 24, 2004 Report Share Posted August 24, 2004 Hi Malathi!! sorry for the late welcome but we were on a mini vacation to NC!!! So WELCOME TO THIS GREAT GROUP!!! where in nj are you from? I am in NJ as well (and so is another jodi, who i dont know if she responded yet to you). i live in warren cty, broadway (a little town between washington and phillipsburg). my son is 3 1/2yr and 24lbs 11oz 34 3/4 " . feel free to email me at jlcals2003@ yahoo.com (no space after @) if you would like i can give you my number and we could even chat by phone then. we go to CHOP in philly and we also see dr h. we went to the convention for the first time this summer and it was such a great experience!! did you go to the Magic Foundation web site yet? www.magicfoundation.org they are a great nonprofit organization that offers info and support to its members free of charge!! and they are the ones that put on the convention in chicago. also we are having a gathering for rss families in nj on oct 16th. it will be held in madison, nj. i can get you the rest of the info. well take care and hope to hear back from you!! jodie c. (one of 4 jodis on the list and 1 of 2 in nj) (nicholas-6 nonrss, christopher-3 1/2 rss 24lbs 11oz 34 3/4 " periactin, ght genotropin (on hold 3m), ADHD (possible), assmentry (left side 1cm), johnathon-1yr nonrss > My son was diagnosed with RSS yesterday at New York Prebyterian > Hospital. I would like to join this group and learn about all of > your experience, treatment options etc. I read a bunch of threads > from this week and noticed a lot of you are in the New York area and > see a Dr. H. There was also a discussion about a " convention " . Any > local info would be really helpful. We live in NJ. I work in NJ and > my husband works in NYC. > > My son is 2.5 years old. He is a twin (like many others in this > group - any research on that?). He weighs 20 lbs and is 32 " tall. > We have been to a number of specialists. He was born at 28 weeks > gestation and has congenital hypothyroidism. So, we had to > eliminate many other diagnoses that could have been caused by > prematurity and hypothyroidism before reaching the RSS diagnosis. > > We have been recommended GHT, but am not sure if insurance will > cover it. What has all of your experience been? > > Thank you in advance for your responses. > > -Malathi Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 26, 2004 Report Share Posted August 26, 2004 Hi there I won't bother giving you stats on my son's height and weight at age 7 months because boys are different than girls. One thing I can tell you is that your doctor is correct, only 10% of the positive results do indicate RSS. The other 90% of RSS kids haven't got that genetic marker (my son being one of the 90%). Yes you and your husband and daughter would have a blood test. I haven't heard recently, but I know about a year ago they were still sending those tests up here to Toronto (I live in Canada) since our facility discovered that gene make up (my son was part of the initial discovery of the gene). For now, check out www.magicfoundation.org and you will find a list of characteristics for RSS children. Our kids have a wide variety of those characteristics. But for us, diagnosising RSS was more a process of elimination. He had a wide variety of testing for every other syndrome/conditions and when everything came back normal, they returned to the RSS diagnosis. 3 years ago we traveled to Chicago for the Magic convention where a Dr. from New York graciously volunteers her time to teach/lecture and consult with us parents. She confirmed the diagnosis of RSS for us. Many of us feel we need her to " see " our kids before we truly believe that diagnosis. She sees over 100 kids with RSS and can tell often by " the look " . Keep reading here and let us know when ever you have a question. We are a warm, welcoming group! Debby New to RSS > My 7 month old daughter has just seen a geneticist after falling > even further off the charts at 12 pounds and 24 inches. He looked at > her and said she looked like a RSS baby and we are now undergoing a > chromosome test for her. (Her pediatrician had already done bloodwork > and a urinalisis. All was normal) He thinks that is what she has > but there are not many tests available. We will do a chromosome test > involving her dad, myself and her to compare the 7th chromosome but > he said there is only 10% of children with this syndrome that this > test would cover and there are no other reliable tests to date. > > It would help me to hear others stories on how your children were > diagnosed and what their sizes and devolopment were at 7 months. She > does have many characteristics of this syndrome including IUG. She > stopped growing in utero at 32 weeks, came out at 38 1/2 weeks at > only 5 pounds 6 ounces. She has remained under the 3rd percentile > for everything and is now falling off, especially with weight. (12 > lbs.) Otherwise she seems very healthy. The doctor has not > officially diagnosed RSS but he is really leaning towards it. Any > story shared would be greatly appreciated. > > Thanks > > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 26, 2004 Report Share Posted August 26, 2004 Hi, my name is . My daughter is now 4 1/2 years old and just diagnosed with RSS last October by a genenticst in NY. It was also confirmed by an endocrinologist this past February. At 9 months old fell off the chart for height and weight. At that point her pediatrician had her come in every month for weight and height checks until she was 18 months old. In the interim we were sent to a pediatric gastro, a nutrionist, had a sweat test performed and blood work. Her pediatrician was happy that the gastro said there was nothing but that she was small and that's where we were left off and told to give her anything she wants to add weight onto her. In June of 2004 while at the ped for an ear infection it was discovered had a murmur - long and short she had a large hole in heart and underwent open heart surgery in November 2003 in New York. It was her cardiologist who had her seen by the geneticist. She currently weighs 29 pounds is just about 37 inches. We were told by the geneticist and endo that she has the " look " of RSS. She currently does not take growth hormone as we are waiting to see the endo again and she how she has progressed on her own since her last visit. So as a baby/infant and up until not quite a year ago we just thought she was small. I always would notice 's hair line looking like it was far back - well now I know it's a characteristic. Where do you live and who have you seen so far? You have caught up with a wonderful, knowledgeable and caring group. There is as someone else has mentioned, the Magic Foundation which we have just joined ourselves which is extremely helpful. Good Luck and welcome! B 4 1/2 RSS and Kelli 2 NON RSS > My 7 month old daughter has just seen a geneticist after falling > even further off the charts at 12 pounds and 24 inches. He looked at > her and said she looked like a RSS baby and we are now undergoing a > chromosome test for her. (Her pediatrician had already done bloodwork > and a urinalisis. All was normal) He thinks that is what she has > but there are not many tests available. We will do a chromosome test > involving her dad, myself and her to compare the 7th chromosome but > he said there is only 10% of children with this syndrome that this > test would cover and there are no other reliable tests to date. > > It would help me to hear others stories on how your children were > diagnosed and what their sizes and devolopment were at 7 months. She > does have many characteristics of this syndrome including IUG. She > stopped growing in utero at 32 weeks, came out at 38 1/2 weeks at > only 5 pounds 6 ounces. She has remained under the 3rd percentile > for everything and is now falling off, especially with weight. (12 > lbs.) Otherwise she seems very healthy. The doctor has not > officially diagnosed RSS but he is really leaning towards it. Any > story shared would be greatly appreciated. > > Thanks Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 26, 2004 Report Share Posted August 26, 2004 hi!! you did not type your name so i didnt know who to address this to!! my son christopher was 12lbs 5.5oz and 24 1/2 " at 7 1/2months. he was thought to have rss at 2 months when they discovered his assmentry (left leg 1cm shorter and left leg and arm are smaller in thickness than right). he was said to be SGA at birth. he was definitely dx rss ar about 1yr (after going through ultra sounds for wilm's tumors for the first year and finding it to be negative and that e had to have rss not another syndrome) we had the chromo. tests done and he didnt test positive for the chromosome 7 either. he is currently 3 1/2yrs and is 24lbs 11oz and 34 3/4 " . feel free to email me at jlcals2003@ yahoo.com (no space after @). jodie c. > My 7 month old daughter has just seen a geneticist after falling > even further off the charts at 12 pounds and 24 inches. He looked at > her and said she looked like a RSS baby and we are now undergoing a > chromosome test for her. (Her pediatrician had already done bloodwork > and a urinalisis. All was normal) He thinks that is what she has > but there are not many tests available. We will do a chromosome test > involving her dad, myself and her to compare the 7th chromosome but > he said there is only 10% of children with this syndrome that this > test would cover and there are no other reliable tests to date. > > It would help me to hear others stories on how your children were > diagnosed and what their sizes and devolopment were at 7 months. She > does have many characteristics of this syndrome including IUG. She > stopped growing in utero at 32 weeks, came out at 38 1/2 weeks at > only 5 pounds 6 ounces. She has remained under the 3rd percentile > for everything and is now falling off, especially with weight. (12 > lbs.) Otherwise she seems very healthy. The doctor has not > officially diagnosed RSS but he is really leaning towards it. Any > story shared would be greatly appreciated. > > Thanks Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 26, 2004 Report Share Posted August 26, 2004 Hi : 's cardiologist is Dr. Leichter. His office is in Summit, New Jersey. Her surgery was done by Dr. Mosca at Columbia Presbyterian in NY. She was also seen by Dr. Hellenbrand a cardiologist who tried to close the ASD hole with a catheter but that was not successful because the hole was too big. I absolutely love and totally trust her cardiologist. As you may have read he is the one that pushed to have her seen by the geneticist before her surgery. A funny note I was reviewing her binder from Columbia Presbyterian because when you go for testing prior to being discharged you have to bring from place to place in the hospital every it said she was an RSS female and my husband was like they don't know that for sure. Well know he believes it. By the way how did you do recovering from Charley? I hope everything is better and Liam is feeling better. If I can get you more information about the cardiologist you can e-mail me privately at jenn-omd@... or jbriggs1970@... either one. B --- mommy2twoboyz@... wrote: > If you don't mind me asking Who is 's > Cardiologist in NY? and where > did she have her surgery? > > (34) Single Ventricle, TGA..Bi-Directional > Glenn 2/91..NO Fontan....MS > Mom to Liam (3 1/2) years old 34 3/4 " 27 lbs > SGA / possible RSS, Hypothyriod, Epilepsy. > Started GHT 5/18/04 > and Jed (11 1/2 years old) Tourettes, CAPD,SVT. > SW Orlando FL > > **Push for Bush, be Weary of Kerry** > > Check out my group: > http://health.groups.yahoo.com/group/ToddlerswEpilepsy/?yguid=174302728 > > > __________________________________________________ Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 27, 2004 Report Share Posted August 27, 2004 Hello, My son was not diagnosed with RSS until he was 17 months old. He was born at 34 weeks, due to an induction because he had also stopped growing at 32 weeks. They thought he had Trisomy 18 and didn't think he was going to survive the rest of the pregnancy, therefore the induction. He was hospitalized for three months, and know one knew why he wasn't growing. They sent him home hopinghe would do better there, but no one could tell us is he was going to be okay. Anyway, at 8 month old, weighed 7 pounds and was 20 1/4 " . Very small! We also had the UPD 7 study done, and it was negative. is on the more severe end of the spectrum when it comes to RSS. And, we have heard that the kids that test positive for the UPD 7 are usually on the more milder side of the spectrum. I hope you get some answers soon, Jodi R. Welcome to the group! > My 7 month old daughter has just seen a geneticist after falling > even further off the charts at 12 pounds and 24 inches. He looked at > her and said she looked like a RSS baby and we are now undergoing a > chromosome test for her. (Her pediatrician had already done bloodwork > and a urinalisis. All was normal) He thinks that is what she has > but there are not many tests available. We will do a chromosome test > involving her dad, myself and her to compare the 7th chromosome but > he said there is only 10% of children with this syndrome that this > test would cover and there are no other reliable tests to date. > > It would help me to hear others stories on how your children were > diagnosed and what their sizes and devolopment were at 7 months. She > does have many characteristics of this syndrome including IUG. She > stopped growing in utero at 32 weeks, came out at 38 1/2 weeks at > only 5 pounds 6 ounces. She has remained under the 3rd percentile > for everything and is now falling off, especially with weight. (12 > lbs.) Otherwise she seems very healthy. The doctor has not > officially diagnosed RSS but he is really leaning towards it. Any > story shared would be greatly appreciated. > > Thanks Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 19, 2004 Report Share Posted October 19, 2004 Yes, my boys are fine - healthy - average children (but tall for their age actually). I know how difficult this journey is - but I can tell you with confidence that in finding this group you can be sure that you are never alone! Again, welcome Jane, mom to 13 months soon to start Periactin SGA ?RSS, Gavin 4yrs and Aidan 2 yrs. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 19, 2004 Report Share Posted October 19, 2004 Hi . I know what you mean. I live in Ohio and no one I have spoken to has ever heard of it including me until I took my daughter Autumn to the geneticist when she was 7 months. He looked at her and immediatly said she looked like a Silver's baby.(high broad forehead, slightly triangular face, larger head, smaller body, 5th finger incurving, also she was small at birth with no catch up growth) I was clueless, but I've learned a lot! Now I have to explain it to everyone around me who is trying to understand why she is so small. I get comments on her whenever we go out. They just cannot believe she is 9 months old. But overall, they are fascinated by her because she is so small and adorable. I've had people come up to me at my son's soccer games amazed she is sitting because they think she is only a couple of months old! They think she's some kind of a wonder baby! I posted some pics of her under Autumn. I also have 2 older boys who are not RSS. I know it must be hard dealing with it especially with your first child....you can e-mail me privatly if you'd like. anderkat3@... I'm no expert, just another mom going through a similar situation. It's so hard to find others who understand. that's why this group is so great. We are all dealing with similar situations here. I wish you the best of luck! mom of Autum and 2 boys > > > > > > Hello. I am new to RSS - my soon to be 10 month was recently > > > diagnosed with this a couple of weeks ago. I thought that it > would > > > be interesting to talk with other parents that are going through > > this. Quote Link to comment Share on other sites More sharing options...
Recommended Posts
Join the conversation
You are posting as a guest. If you have an account, sign in now to post with your account.
Note: Your post will require moderator approval before it will be visible.