Genetic testing

[Babymaddie1]

If genetic testing comes back negative what are the next steps? Is it possible to have bws and it not show up? Also should doctors still follow protocol with blood tests and ultra sound? I don't feel like we have the support due to the fact that the doctors know little about it themselves!

[josh1014]

I do know it happens and it can still be BWS. It is good to consult a children's hospital.

[Songbird63 Administrator BWS Support]

This is a quote from the BWS geneticist at Great Ormond Street Hospital. " In 80% of children with the condition, the molecular testing is positive. Where testing is negative, a Clinical Geneticist will advise on whether they can confirm the diagnosis on clinical grounds alone."

Where are you based? Have you seen a clinical geneticist yet? If not I suggest you ask for a referral to one at a specialist children's hospital. As the comment above states the diagnosis can be made on clinical observations ie certain features and clinical presentation.

Please come back to me with more questions if you need to.

[Babymaddie1 in reply to Songbird63]

Thank you! I'm

From Birmingham my daughter is 5 months old she was 8lb 14 born which was huge for me I had a planned c section at 39 weeks she was born with what medics were telling me was "flat head" but on the side of her face and her forehead is larger on one side, she has a stalk bite and ear creases my main concern was her belly was bigger on one side which I was told was normal and a slightly odd looking belly button which is now fine! Several times I asked about her belly on different occasions but was told it was fine until I had to see a consultant about her flat head ( who was a stand in) and she has referred me for ultra sound and genetic testing! My concern is I had seen at least 9 paediatric doctors and they all dismissed the signs! After reading about bws my heart tells me that there is something there! I get the genetic results in august I'm not sure about her tongue she did have it out all the time but now I think it's normal and also she can kick her legs and slam them down but she will not put any weight on them my health worker has said that she will need physio she is following the 96th percentile! I don't have any confidence with the doctors and if it's not genetically confirmed I'm worried about the fight I will have with them! Thanks again!!

[Songbird63 Administrator BWS Support]

When you get the results in August I assume you will see the geneticist at Birmingham Children's Hospital? Depending on the results they should refer you to the relevant specialists. It could be that the genetic testing throws up a different diagnosis to BWS, or may show nothing at all. But clearly there are issues that you need advice and management for, or possibly further investigations.

If you are not happy at this point that your concerns are being taken seriously I suggest you talk to your GP.

It sounds as if you will probably need to see a craniofacial team at some point. Birmingham children's hospital is one of the four UK centres for children's craniofacial surgery. In fact it is a tertiary centre for lots of peadiatric conditions, so you should be in good hands. However, when diagnosis is unclear or delayed as parents we often have to fight to get to see the right people. Contact a family is a charity that has lots of information about different conditions and getting a diagnosis etc as well as other information...they have a good website you may find helpful.

Hope this helps a bit.

[Babymaddie1]

Thanks for the advice it really does help just having an idea!

[BabyJMummy]

Hi - sorry - a bit late to this one - my son has bws. He's 3 & small for his age so geneticist wasn't sure it was bws to begin with. We had all of the blood tests done but nothing was conclusive & then he was having another op anyway so we asked them to take a skin biopsy from his leg with hemihypertrophy. It came back positive for bws. It is mosaic bws and so doesn't show up in all of the cells which is why the bloods always came back negative. It was only when a sample of an obviously affected part of the body was taken that the results confirmed what we already knew in our hearts. The geneticist ordered all of the tests (except for the first ones when he was in the Nicu.) and our tests were all done through Birmingham & then he was also entered in a study in Southampton too. Hope this helps xx

[Babymaddie1 in reply to BabyJMummy]

Thanks that's really useful my consultant appointment has been put back till September which will be about right if the genetic testing takes 12 weeks!! My heart tells me she has it I just don't want them to stop her ultra sounds if it comes back negative thank you I'll let you know what they say!

[BabyJMummy in reply to Babymaddie1]

If you think she may have hemihypertrophy (one side bigger than the other) then you may be able to push for ultrasounds anyway - our geneticist wasn't keen & that's why we had the biopsy done, but some people who have isolated hemi (not connected to another condition) still get ultrasounds I think (there are some groups on Facebook that the people in them seem to suggest this). Hope the appointment goes well.

[Babymaddie1 in reply to BabyJMummy]

Is your geneticist based in birmingham is so can I have his name please

[BabyJMummy]

No ours is at Nottingham city hospital, but they sent everything over to Birmingham - I can't remember who it was that did the tests there though - I'm sorry. Ours is Dr easom at Notts though xx