Hi. It's scary when you first get the diagnosis but it really does get easier. The first year is probably the hardest as you come to terms with the diagnosis and there will be lots of hospital appointments initially but after that, everything settles and its only the 3 monthly scans and blood tests. Are you in the uk? If so where abouts? Do you have a pediatrician familiar with BWS? We're in Bristol and my son is almost 2 years. He's doing great and is a very healthy, happy (and cheeky!!) Little boy. You can request to join the Facebook group, it's a great group!
Welcome!: Hi. It's scary when you first get the... - BWS Support
Hi, I am also in the UK. Congratulations on the birth of your daughter.
My daughter is now 9, and was diagnosed with BWS clinically at birth. She has had some struggles along the way, but she is doing incredibly. Her two main issues at birth were her blood sugars, and also her tongue. She was diagnosed with Hyperinsulinism, and had a pancreatectomy at 11 weeks old (This is very rare in BWS, as usually they respond well to drug therapy). She had 3 tongue reductions before she was 5. Now to look at her, you wouldn't really know that she was unwell at all.
We have all our treatment at GOSH. We only went there initially because of the severity of her blood sugars, but they are very familiar with BWS. For genetics, we didn't actually have them done until she was 3 because we knew she had BWS so the treatment was not going to change based on the genetic results.
There is a macroglossia service at GOSH for BWS patients, and this is a nationwide service. They do not usually see them until they are 6-12 months, but you can request a referral for this from your GP so you have an appointment scheduled. They are a brilliant team and I can fully recommend them. Caroleen, is the speech and language therapist and she set up the service - she has seen 100s of children with large tongues.
For the blood draws, they don't actually have to use a vein. They can do the AFPs using a heel prick and can be a lot quicker if they are hard to get a vein. This was especially useful when my daughter was really young.
I would recommend that although she has BWS, each symptom generally needs treating independently of the rest, so we see the Endocrine department for her sugars, we see Orthopaedics for her Hemi, S&L, Dental and Craniofacial for her tongue etc. Its not likely to find one consultant who understands every element because they are so individual.
If you would like to chat further, then please feel free. I can honestly say that things have got so much easier over time, and although it was a tough start for Amelia, we tend to forget she is any different from her friends now. It definitely has not held her back.
Thanks v much for your kind reply, its good to know someone in the UK. Great to know your little one is 2 - how did your boy cope with the blood tests every 6 weeks? Can nursers always be able to find his tiny blood vessels for blood draw?? And how about the weaning (assume he has a large tongue too?)?
Yes, we are UK based too (in London). Our local hospital is Chelsea and Westminster Hospital, we have seen 2 pediatric consultants there, but unfortunately neither seemed familiar with BWS. It is such a rare illness. One of the consultants saying he has only seen 5-8 large-tongued babies in his career at C&W hospital, but none of which has been diagnosed as BWS. Apart from generic checks and scan advice, they couldn't give other advice ie feeding, tips of home abdomen check etc...
Worse than that is the stressful waiting for an NHS clinical geneticist appointment - although our GP had done referral to GOSH geneticist when DD was 2 weeks old, we just received a cold letter recently from GOSH, saying we are not within their catchment area. We then got re-directed to the right geneticist centre for us, and then been told yesterday that the earliest appointment is in October!!!!
Fortunately we had gone to a private geneticist when our DD was 3 weeks old at the Portland Hospital. He arranged two blood tests which later confirmed DD's BWS. We need to arrange AFP blood and scan asap, but felt the NHS speed is dreadful...I felt I have no one to speak to, and not much help given by hospital neither.
Sorry for throwing down so much negative thoughts here, I guess I just need a place to speak out my fears, sadness, pain and frustration. BWS is so rare, very few people around us (incl. med professionals) familiar with it therefore no comfort we can get!
Hey. I'm overseas on holiday at the moment with poor internet, let me respond next week when I'm back home and can write properly x
That's very kind of you, yes let's talk when you back. xx