My bws 42 years later

daughter waseathek them four month bthe doctor who delivered hero send her right away to Chapel Hill in North Carolina where we live the pediatrician I hired Brought me and a death certificate to sign he had given up on her immediately the doctor that delivered Her he was the one who called for an ambulance to take her to Chapel Hill she was in PCU he had to have a chest tube and she had kept stopping to Breathe after 3 weeks I was able to bring her home I noticed the one side was larger than the other I also noticed you had petite Mall seizures I also noticed in the daytime my son noticed that she wasn't breathing I grabbed her up and started baby CPR and she started breathing again I rushed her to the hospital They did testing testing couldn't find a thing wrong with her and dismiss her I couldn't sleep that night before he stopped breathing and she did again we rushed her to the hospital again they couldn't figure out why she wasn't breathing this time I kind of got mad I said I bring her to this Hospital twice and you say nothing is wrong when there is something wrong I want an ambulance at the front door and a nurse on board with oxygen and I want to go back to Chapel Hill there a doctor named dr. Little Took her case and he was the one who diagnosed her with bws she finally ended up having a lot of tests ran on her and we found it in large heart liver kidney and spleen I had another doctor to tell me when she was six months old that she wouldn't live to be a year old I was told that she wouldn't be Live to five years they told me she had Down syndrome this was a doctor Kirkland at Chapel Hill that told me that I bought her back for her 3 months check up and she was doing great there was still a lot of problems through the years ultrasounds MRIS CT scans she did have mild epilepsy call Psycho motor this is where she would just pass out with her eyes open she's 42 years old now and besides the abnormal growth on the right side and the umbilical hernia she's doing fine a surgeon and orthopedic surgeon stuck the growth in her right leg when she was 13 years old so that her left leg could catch up to the right leg he scooped up the growth centers in the right knee it is genetic because in 1962 I had a daughter that had Beckwith wiedemann syndrome to the worst degree she only live for 3 days she had the intestines and stomach what on the outside of her body and at that time we weren't as medical knowledgeable as we are today that's my story with my 42 year old daughter that has been a blessing to me everyday thank you

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  • Many thanks for telling us about your 42 year old daughter. It is a good reminder about how far medicine has advanced in these years. Our son is now 34 and has four gorgeous children of his own. Most of the BWS cases are not familial. It is my understanding that only about 20% of the children are in the subgroup where BWS can be passed on to their children. The good thing about BWS is that the majority of children do well in their adult life. Though our son is tall (6 feet 6 and a half) you would not know he has BWS. Thank you once again. We have recently updated our website which can now be found at bwssupport.com and I will put nine more BWS stories on the website.

    Bob Baker

    BWS Support Group UK

  • Hi has your bws children grew up and had children without bws...im just curious as hopefully some day my kids will have kids and not endure the heartache we did

  • Many thanks for your reply. Yes, our son has four children all of whom do not have BWS. My understanding is that only around 20% of BWS cases are familial i.e. they can have BWS children themselves. This is why the genetic test is important in that it can help understand which sub group the child is in, although around 20% of the tests do not show up any result. I have recently updated our website. You may want to look at the BWS stories (thanks to Great Ormond Street for these). I am about to upload our son's story (he is called Tom). The website can be found at bwssupport.com

    Hope you find it useful.

    Best wishes

    Bob

  • Thanks so much...when my first son was born 13 years ago did genetic testing but said was missing prints of my DNA..and I'm a carrier...

  • My daughter is 4 i really hope we can chat. She has Beckwith Weidemann Syndrome. I am debating this tonge reduction surgery. My girl is perfect and doing well. Has mild enlarged tongue. She speaks well, has trouble with a few pronunciations. I really need pictures of adults with BWS. Then and only then can i make a informed decision on following thru with surgery. Can you help?

  • My boys had enlarged tongues but have grew into them...never had surgery on them..were tube fed for first 9 months as tongue restricted swallow and breathe..

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