what to expect

[Gemma2k8]

hi, I'm posting with hope of some answered questions about my daughter. as from the very first scan during pregnancy we were told out baby had an abdominal wall defect that would need further follow ups. the defect turned out to be an exompholis, which we were told could have further complications. tests were carried out to eliminate certain chromosome defects but all was clear.

I was taken in to deliver baby no2 by planned csection at 38 weeks and baby went into theatre the same day to repair the wall defect and place the bowel back inside. everything was straight forward and baby was out of intensive care and home within 4 days.

we named our baby Brooklynne, she weighed 10lb 4oz and was quite long. this did not occur to me as a problem only to find that within a week her toungue became more prominent and she had many pits in the back of her ears. I wasn't aware of the condition as I was under the impression that during the amniocentesis test this defect was ruled out. unfortunately it has now been confirmed by a paediatrician but after 3 referrals we still have not seen an appropriate specialist. Brooklynne is now 5 month and weighing 22lb.

head of questions and no answers,

what is the best specialists to speak to?

will this syndromes characteristics change/slow down?

is this an inherited syndrome?

if I have more children can this occur again?

KR Gemma x

[SSasha]

Hi Gemma,

First of all Brooklynne is beautiful. My little girl is now nearly 12 months and was a similar size at age 5 months. The growth spurts do slow down, but it does vary from child to child .

You should arrange to see the geneticist for a proper diagnosis (you definitely will get a clinical diagnosis, with or without DNA confirmation (only 80% have identifiable DNA changes). Our paediatrician is and endocrinologist (think diabetes specialist). Plus you should start blood tests for AFP levels every 6 weeks, and abdominal ultrasounds every 3 months. Talk to your GP about getting these started ASAP. They're really important because children with BWS have approximately a 1 in 10 chance of developing cancer.

It is most likely your daughter's case is spontaneous, so you shouldn't have an increased risk for the next child, but your geneticist will advise you in this regard once the testing is completed.

Please join the Beckwith-Wiedemann Syndrome support group on Facebook. There are lots of really helpful and knowledgeable parents in that group who can help with all of your questions. I hope to see you there.

Sasha