Can anyone recommend a good geneticist? Who did u go to?

[Pienk]

Our son might have BWS. Will testing give us a definite answer or is there a chance we still dont know. Our son was at birth 9.9lb and 23 inches. He sometimes have his tongue out a little. we went for scan and his got large kidneys but still in range. Our peadiatrician thinks our son might have BWS. He said testingwill not help as there is only 1% chance we will find an answer this is what his been told by a geneticist. Can anybody recommend where to go or what we should do? Most of the info on internet seems to be dated many years back?

[Claircharlton]

Hi, I'm Clair from uk, I have an 11 month daughter who has confirmed bws, we had this confirmed by a blood test sent to genetics, she was large birth weight (10lb 8 1/2 oz) large in length, low blood sugars at birth a enlarged tongue (now been reduced 19/11/12) luckily she has a milder form of bws and apart from the growth we shouldn't have much more problems, still regular checks though, I would get a second opinion you can get testing for bws hope this helps a little x

[Pienk]

Thanks for your message Claire! I defnitely want to get a second opinion..just dont know where to go? Which genetics did you use? My son had low blood sugar for the first 2-3 days of life. Around 2.6-3.2. His tongue is out sometimes only very little bit and i did not realy notice it until our pead mentioned it. We thouhgt he was just a big baby. He now weighs 18 lb at 10 weeks. He is going for blood afp tet tomorow and i'm very nervous how theygoing to draw blood from him. How is your daughter with this test? And how often do you do it? Thanks!

[daisyduck BWS Support]

Hi, we have seen Dr Richard Scott at Great ormond St Hospital. I think the information you have received regarding the testing is out of date. Where are you based? Could you request a referral to him? He is very experienced with BWS patients.

[daisyduck BWS Support]

Also, we used to have afp tests done via a toe prick. They actually weren't that bad byte my daughter has had severe blood sugar issues and is used to bloods being done. The scans are very important too. x

[Pienk]

Hi Daisy. We are currently in Dubai and not sure the doctors here know much about BWS. If need to we can travel to a good doctor that have experience with bws. My son had his first afp done two days ago and blood drawn from vein. I would prefer a toe prick...is it up to the lab or doctor how blood is done? How does u'r daughter handle the blood drawing...does it get easier when they get older or harder? Thanks!

[daisyduck BWS Support]

Hi, I have answered on another post, however, in our experience, the blood tests and scans were fairly easy as a baby, then got harder between about 18months- 3 years, and now they are a lot easier again. I think the period of time when they won't sit still, and still don't understand is the hardest.