Questions

[Ssteudeman92]

Hi my daughter was clinically diagnosed with bws we r waiting on the blood results to conform it she is five months old and I was wondering what happens if the results r positive I'm clue less

[Songbird63 Administrator BWS Support]

The results will show which genetic subgroup she is in and thus what monitoring and screening she needs. See the group's website for more info bws-support.org.uk.

If your daughter has macroglossia (large tongue) as a result of her BWS she will need to be assessed by a specialist peadiatric craniofacial team. If you are in the Uk this will be at Great Ormond Street Hospital. Again there is more info on the website.

The vast majority of children with BWS grow up without any major issues so try not to worry too much. If you have any further questions please come back to us at any time.

[Amh22]

Hi, the gentic results wont change the clinical diagnostic. If they are positive or negative you should follow the protocol AFP every 6 weeks until 4 years and abdominal trasound every 3 months until 8 years. Genetic tests are done to try to find the mutation that your baby has but they dont change the diasnostic. Some bw children have negative result but they have bws. Good luck!

[BobBaker Administrator BWS Support in reply to Amh22]

I notice in your post that you say that any children have a negative result from the genetic test. My understanding that this is only 20% i.e 80% of the tests show up. As more research is done it becomes even more important for parents to know what sub group their child is in. The reply from Songbird is perfectly accurate.

[Amh22]

Hi, attach some important links about Beckwith Wiedemann S and protocols in USA...

stlouischildrens.org/sites/...

ncbi.nlm.nih.gov/pmc/articl...

chop.edu/conditions-disease...

stjude.org/disease/beckwith...

[Amh22]

This link is a Facebook group (support group) for Beckwith Wiedemann. It is great.

facebook.com/groups/7835762...