Re: Re: New UK Post- UK doctors - BS issues

[Guest guest]

Dear Gillian,

I am mum to in Japan and although I am way removed geographically I am

British and have spent the past few years researching, seeking treatment at

various centres in the UK. I don't know how useful my findings are but here

goes.

i think one thing you will find as time goes on, as so many of us do, is that

team treatment is a real big thing for RSS kids since they have so many cross

speciality issues.

has confirmed RSS. He is UPD7. He has typical facial features, incurved

little finger, no assymetry to date but some now emerging. He is near 100% tube

fed (First nasal tube and now G-tube). He has had severe gastro issues to date

which were thought to be due to slow emptying and reflux (he had surgery -

nissen fundoplication and pyroplasty in Japan which has proved a mistake) but

which turned out in the end to be due to malabsorption of food and food

allergies that take 3 months to show any symptoms! (rare but not unheard of we

now find out after years of Oh that is it no possilbe). He nis on growth hormone

and is finally starting to eat by mouth. he has put on 1 kilo in the past month

or so - wow! He is at last doing much better and we are today 3 months into a

new food for him so are keeping our fingers crossed that no allergic reaction

emerges.

As for medical history: was hospitalised in University College Hospital

in the UK from 3 to 5 months. He was under the care of Ackermann or the

endocrinological department of Institute of Child Health, Great Ormond Street.

RSS was mentioned then but dismissed due to having a Japanese and a

British parent and large forehead thought to be genetic. We returned to Japan

with no diagnosis.

care in Japan has not been great and team treatment is almost unheard of

so far.

At near age 2, condition was so poor that we went back to the UK for

consultations. We went to Dr Stanhope who is very nice and Professor Milla

- gastroenterologist at GOSH. He is also excellent but is so famous that he is

never around and very hard to get an appointment, never answers his email and

practically speaking can only be seen privately. He made good suggestions but we

ended up having to follow up on them elsewhere due to lack of access. When you

go private you get your 30 minutes worth but no hope of any follow up

afterwards. There is a feeding team at GOSH but they only take NHS patients from

the immediate vicinity. There is a 6 month waiting list and there are strong

communication problems between them and other departments due to lack of

continuity in the team leadership. Again practically speaking a problem.

At near age 3, we then went to Birmingham Children's Hospital and the University

of Birmingham Institute of Child Health. I'm sure you have heard of the team

there since they are involved with the Child Growth Foundation, are very keen to

work with the parents and are trying to establish an all encompassing " RSS team

center " in the hospital.

The team there is Dr Kirk (endocrinologist). They have around 80 RSS

patients if I remember rightly although was their first confirmed UPD7

patient when we went in January. Prof Ian Booth is the gastro enterologist and

he heads up the GI and nutrition team so can get things done quickly - we got a

dietician appointment after seeing him within 40 minutes!. He is known as the

country's top voice on diaohrrea! (mmh). The feeding team is headed by Dr

Gillian , a

feeding pyschologist. She holds joint clinics with the speech therapist once per

month I think around the 23rd of the month. They have a 6 point ( I think)

feeding programme which starts with pastes and then " bite and dissolve foods "

etc Liquids being the last. They tailor the programme as each child is different

and being in birmingham they have such a multi-racial patient base that they say

that different levels of cleanliness and fastidiousness makes a huge difference.

They try to encourage some asian communities to allow children to roll in mud

etc to overcome sensitivies! I'm of the camp that noone ever died of eating a

bit of dirt but my Japanese husband would have a kitten!

Dr Kirk is looking to start a variety of joint clinics - endo plus GI or endo

plus feeding specialists with parent although they haven't started them yet. (in

response to parent requests). They are about to start some joint research

studies on Growth Hormone and whether it stimulates appetite - to what extent.

I was impressed at their speed of team building, how they all communicate

through one point person with letters copied to parents (in our case Kirk

as team was led by the Endo) so that one person is calling the shots and

making the decisions but realises they need the input of other specialists. The

team is young enough that they are in greater contact regularly with each other.

I did not find this practically to be the case at GOSH (where Dr Stanhope is

involved) since they are all affiliated to different hospitals around the

capital and are in one place one day and one another - again a practical barrier

to constant close communication.

Again I can only speak of my own experience but one final word, be careful about

seeking second opinions from people who are not real specialists in that field.

We made the mistake of asking Dr Stanhope (again I stress a super man and very

lovely) his opinion on a pending surgical procedure for , an RSS patient of

his, for GI issues. He didn't really have the specialist knowledge. Dr Kirk

wouldn't voice an opinion but sent us straight to Professor Booth (post surgery

unfortunatley) - they were in good communication. Booth said straight away that

such surgery is hardly ever reccommended by GI doctors these days as it can lead

to desperate blood sugar problems and dumping problems afterwards - this is

exactly what turned out to have - along with other problems. It just goes

to show that looking hard and long enough for the right people means you get the

benefit of their past experiences of other patients.

In terms of sweating etc, this is often just a feature of RSS and there isn't

much you can do about it - you often hear of the children prefering cold things

- cold drinks, T-shirts even in cold weather and with cold showers. this

might be something to think of. Real low blood sugar is easy to detect since the

child fails to respond - they are not unconscious but need to have their levels

brought back up with food as soon as possible. I have found with in the

past that rice - organic brown if possible, is the best thing to keep overnight

blood sugars up. He can go all night and come out the next morning with a BS

level of 80 or 90. I mixed it down with rice dream milk and put it in his tube.

will stop there as I am actually sitting here in a towel with henna on my head

for the first time (breast feeding my younger child so not wanting to subject

her to all of those hair dye chemicals. If I scream in a later post it's because

my hair has turned blue or something!)

all the best and please feel free to mail me if I could be of help -

collis@....

Debi

mum to in Japan - 3 years 7 months 9.6 kilos, 85 cms. GH, RSS, g-tube,

milk/soy protein allergies (we think)

Re: Re: New UK Post

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!

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