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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!