Welcome!

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!

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  • 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

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