New leaflet on BWS, including information on genetics, from GOSH now available

[Songbird63]

Great Ormond Street Hospital have produced a new information sheet on BWS. It includes the long awaited information on genetics and screening advice for children with BWS.

The link is:-

gosh.nhs.uk/medical-informa...

Or go to GOSH website and search Beckwith Wiedemann Syndrome.

We hope this information will clarify the guidance about screening for tumours that families have been asking for. It has been produced with the help of the support group and a link will go on our website soon. We hope you find it helpful.

[MissieTee]

I didn't find it helpful, in fact the opposite. I think most parents would be troubled by the suggestion that half of BWS babies need no screening for Wilms and that screening is not necessary at all for other types of tumours. Once again I can only assume this is a cost saving exercise. Ok so there is clearly less chance of one set of BWS babies developing tumours (which is great) but with BWS already being so rare it feels like they're jumping the gun by saying screening isn't necessary. It brings such peace of mind to me and my family having that screening. BWS can have so many unknowns to it that to take away the screening could do some much damage to so many families.

[Songbird63 Administrator BWS Support in reply to MissieTee]

I'm so sorry you do not find this information helpful. I can reassure you that the guidelines for surveillance are completely evidence based after much research and as such are supported by clinical geneticists, paediatric oncologists and paediatric radiologists across the UK.

Should you wish to read some of the research behind their decisions the following link may be useful.

springer.com/cda/content/do...

It must be noted that Wilms tumour and hepatoblastoma also occur in children without BWS. And that there is currently no reliable screening available for hepatoblastoma.

However, as a parent of a BWS child, I do understand your anxiety about stopping screening for Wilms tumour, and your desire to ensure your child continues to receive surveillance, for complete peace of mind.

Dr Richard Scott (the geneticist at GOSH who was responsible for writing the information sheet) has previously stated that it is generally accepted by geneticists that it is not appropriate to stop surveillance in children known to be in the low risk subgroup without discussion with the family. And advised that such families are referred to a geneticist to discuss the recommendations. He acknowledged that some families may wish to continue with screening even if they do not meet the eligibility criteria, because they may experience anxiety should surveillance be withdrawn. I suggest you have this discussion and talk about your concerns with your own geneticist.