Any clear answers would be appreciated on enlarged organs!

[Mandrewsfred]

Have a few questions that haven't been answered satisfactory by any of our physicians and hope some one with more knowledge could help! My daughter has been diagnosed at birth with bws. She was born with a enlarged liver and tongue. After visiting with a genetics and trying to educate her physician from what I have researched on line she had her second ultrasound which they have also noticed her spleen was enlarged. My questions are this..will these organs continue to grow with her? What is the effects of having enlarged organs?( tried to research this on line and never a clear answer!). I will probably think of many more questions to ask this group later on but for now anyone that could help with clear answers would be great! Thank you!

[Songbird63 Administrator BWS Support]

Sorry to hear you've had such a tough time. Do you know which genetic subgroup your daughter is in? If she has not been genetically tested you need to ask for this. Are you in the UK?

Although enlarged organs do occur in some BWS children it also occurs in many other conditions, so your daughter physicians will need to rule out any other problems by doing further investigations.

Often BWS children with enlarged organs don't have any ongoing problems due to this as they grow, but there are exceptions, and as such they need to be monitored regularly. It depends partly in which organs are enlarged and what impact this has on the function of the organ. This could be part of the regular screening your daughter should have if she is in the BWS subgroup at higher risk of Wilms tumour. If she is not in this group the organs should be monitored anyway.

My son had one slightly enlarged kidney and an extra part to his spleen (a splenunculous). The splenunculous remains but causes no problems and his kidneys are now normal size for his age (he is 16). The kidney was normal size by the time he was 4 or 5.

I'm sorry this is not very specific but you need to keep pushing for management plan to address these issues. Try and make sure you daughter is under the care of a peadiatrician who knows about BWS as so many don't. Most children's hospitals should have this but general hospitals don't.

Please come back and ask any other questions and I will try and help.

Best wishes.

[Mandrewsfred in reply to Songbird63]

Thank you songbird63

It is great to hear about your son and the positive feedback on his enlarged organs. I have noticed everytime I ask this same questions no one has a direct answer, we are currently waiting on the approval for the BWS testing. Once that comes back I may have a million more questions.

Also we reside in the US and except for the specialist,the pediatrician have very limited knowledge on bws. Thank you once again!

[scousegirl1]

Hi. Our daughter was born with a "grossly enlarged kidney" - the one on her hemi side. She is now 4 and is near normal size. As Songbird says, this can increase tumour risks. Either way, it's vital that your child get the correct screening for BWS (6wkly AFP blood draws - we get our done with just a fingerprick test ) & the 3mthly FULL abdo u/sounds). There is an amazing private f/book group that is always active and filled with very knowledgable parents - its called beckwith wiedemann Syndrome ( facebook.com/groups/7835762... ) and helped/helps me loads, specially when I want answers fast.

Be aware that sometimes genetic testing for BWS can sometimes come back (incorrectly) negative. However, BWS can be diaganosed on physical markers, eg the O, large birth size, stork marks, ear creases, hemi. Unfortunately, some in the medical fraternity need that extra harrassing, to get things moving in the right direction. All the best.

[Mandrewsfred]

Thank you scousegirl1!,

It gives me hope that the organs are not so pronounced as the get older. Kendra was born with a enlarged liver and tounge, she is currently receiving ultrasound screenings and afp every 12 weeks. After 5 months of arguing with our insurance company,they have approved the BWS testing and we are awaiting the results. And I will mention a finger prick for the afp at our next appointment. That would make it so much easier then our current blood drawl. Thank you everyone!