Beckwith Wiedemann Syndrome

[BigSissy45]

I was diagnosed with the syndrome in 1969! I have had numerous surgeries as well as many other tests & procedures over the years! I was 1 of the 1st cases in the USA & I've begun to have a lot of issues as I have gotten older! Because of that I recently started to do some research on my condition. I am seeing pics of children and adults who have to be suffering much worse than I am! It makes me wonder what kind of treatment they're getting! I am 45 years old & I can still walk (some anyway) & most of them can't! I guess I've been 1 of the BLESSED because Johns Hopkins Hospital took me on as a patient when I was very young & made it possible for me to do & be so much more than I probably would have been able to!!! If anyone who sees this has BWS or is the parent of a child with BWS, I would LOVE to hear from you! It would be GREAT to share information!

[bwsmum]

Hi I am in the UK and my 13 yr old has BWS. It is great to read your post. Would love to talk to you more.

Kirsty

[BigSissy45 in reply to bwsmum]

Anytime!

[Songbird63 Administrator BWS Support]

Thank you for your post. We are always keen to hear from adults with BWS.

Evidence to date suggests that as BWS children grow older they have less issues and become more like other children, and that by the time they are in later childhood many if not all their issues have resolved. For some children at the more servere end of the very wide BWS spectrum there may be some ongoing issues, but these are often children who have other medical problems aswell as their BWS. I wonder if you could explain to us what your ongoing medical problems are and what surgery you have had? And why it is so difficult for you to walk presently? Did you have hemihypertrophy and therefore some orthopaedic surgery? I hope you are getting all the help you need to improve your situation.

[BigSissy45 in reply to Songbird63]

I have a fairly severe case of hemi & because of that I had more than 1/2 dozen bone removal surgeries. They cut 2 " of bone out of the top & bottom bones in my leg every time! I have plates, screws, pins, & a rod inmy leg even now! As a young child my issues were more severe but as I grew things improved. By the time I was a teenager I was able to do almost anything I wanted! I wen' t to college on a basketball scholarship! I've only started to have problems with my legs in the last 4-5 years! Knees & hips are beginning to go on me. Arthritis & age! Ha!

[Songbird63 Administrator BWS Support in reply to BigSissy45]

I'm sorry to hear you had lots of surgery for your hemi as a young child but I'm glad that as you grew things improved for you. Unfortunately arthritis is a common problem for people who have had orthopaedic problems early in life. (I do not have BWS but had lots of hip operations as a child and now have severe arthritis in my hip, so I sympathise with your pain)

Do you have any other issues as an adult due to your BWS? We are keen to gather information from adults with BWS regarding any problems they have.

[BigSissy45 in reply to Songbird63]

Some back problems, I'm still hypoglycemic, & I have to have my kidneys checked every few years!

[Xen76]

I am a parent of a BWS child and it is not common to find information of adults with BWS, so please share information. Thank you very much

[BigSissy45 in reply to Xen76]

Ask anything you would like? I'll try to answer any questions you might have to the best of my ability!!!

[Ashley17]

Are you apart of the facebook groups? There are so many people that could use your knowledge, especially those that are in the first stages. I just joined, but the groups are amazing!

[BigSissy45 in reply to Ashley17]

Yes. They are great!!!

[momandjeff]

Hi BigSissy45

My son Jeff was born in 1974 with BWS. Supposedly he was the 14th reported case in the USA. He had an omphalocele, huge tongue, hypoglycemia, hemihypertrophy (rt side), severe jaundice, 12 lbs 8 ozs., 24" in length & delivered vaginally. He had surgery on his intestines which were totally outside his body in its natural sac luckily. Surgery was performed within 2hours after his birth. He does not have a belly button. Tongue reduction was done when he was almost 3 months old. It was thick & long. Jeff has had several surgeries also. Another was on his right knee to "shut off" the growth plate due to the right leg's longer length. The leg length discrepancy was causing back pain. His right arm is longer than the left (39" sleeve length). Jeff has poly cystic kidneys but they're stable so far, hypertension & he has a pituitary tumor that was diagnosed about 2 yrs ago. Whether that has anything to do with BWS....nobody knows. He had jaw reconstruction at age 21 due to a moderate underbite & another tongue reduction (especially the thickness--muscle tissue) & the 2nd tongue reduction was his choice. I would like to know more about you. What surgeries have you gone through, any speech issues, just anything you are able to share would be so very appreciated. Would you believe that my son's kidney specialist told him at the age of 35 or so..."you know, you are the oldest surviving person with this syndrome". Bad thing to say to her patient that has been through much physically & psychologically. I don't believe she did her research AT ALL! After what she said to him, he started saying that he probably won't make it to 40. What kind of doctor would say something like that? Well, Jeff is turning 40 on April 26th. He's 6' 5", handsome, very kind & loving, a great sense of humor, a college education, an athlete & the greatest gift he has is a 10 year old daughter that is perfectly healthy & adores her daddy unconditionally. Please write more about yourself & where you are from. We live in Milwaukee, Wisconsin. Can't wait to hear from you!

Glad to hear that you're doing well.

Christine......mom of Jeff

[BigSissy45 in reply to momandjeff]

It's GREAT to meet you (so to speak)! I was lucky in that I had none of the intestinal issues that your son had, but I have (had) severe cross hemihypertrophy! My right leg & left arm are larger! My leg was much more severe & required 7-8 bone removal surgeries where they would take 2" of bone from the top & bottom of my leg bones. Then they would insert a rod or pins until the bone remended itself! This happened every other year from the age of 2-12 & then again when I was 14 to "slow down" the growth plate. I had a huge younger as well but wasn't able to have the tongue reduction until I was 12 or 13. I also have a malformation in my kidneys! Not sure what it's called! They work just fine so far! I am also still a little hypoglycemic. I've heard that there are a few types of cancer related to BWS but I am not sure if your son's is 1 of them. I spent a few years in speech therapy before my TR & a few months after I completely healed from it! Tell your son that his kidney doc is full of it & that I'm sure he can make it much further than 40!!!!! I am 6' 4" & I'll be 45 in October. I was an athlete for years & I still really enjoy sports! I just have to enjoy them from the stands now! It's all a matter of perspective, right? I have 2 amazing son's who are both PERFECTLY healthy!!! I'm in Salisbury,NC( that's about 30 mins north of Charlotte)! So glad to hear from you & hope to hear from you again soon!!!

[andrew95]

Hi sissy

I have BWS and i don't have any problems to walk or anything, but you made me a little bit scared, u think i ll have any problems in the future?? Do old People with BWS live with lots of problems i hope i could do normal life like anybody else, all the doctors i spoke to told me that i could only have big problems as a child but maybe they didnt Know any adult with BWS,

Please answer soon

Andrés

[BigSissy45 in reply to andrew95]

I had severe cross hemihypertrophy that required numerous bone removal surgeries! As a result I have arthritis and other problems that make it more difficult for me to walk! Don't get scared, get informed! Every case is different. I know that BWS is associated with several other issues. Talk to a specialist and be sure to inform your doc if you think you are having any new issues! You may think that you're bothering them, but that is what they get paid for!!! Mine was 1 of the 1st cases & most of my treatments were experimental. I'm sure the treatments have gotten MUCH better & less invasive in the last 40 years, so you may not suffer any of the issues that I have!!! Please feel free to ask me anything & I'll try to answer as best I can!!!

[ReneMartinez]

Hello, I'm new to the community. My niece was diagnosed with BWS when she was born. She is 4 now, and has been in wonderful health, however the doctor would like to stunt her growth on the right side, to allow for the left to catch up. He wants to put screws in the growth plate in her knee. My sister is skeptical as well as worried, as am I. I guess my question is, do you know anyone who's had this surgery and is it worth it to do, or should she wait until Aniston is a little older? Thank you so much.

Rene

[BigSissy45 in reply to ReneMartinez]

I have had the surgery myself!!! I wasn't able to have mine until I was older but that's because the surgery wasn't available back in the early 70's!!! It helped me a lot!!!

[Christchrurch100 in reply to ReneMartinez]

Hello, 4 years too late perhaps. I’ve had the operation in which you are talking about. For me it caused more issues, but it really depends on the length. My operation was botched... they’re not actually meant to put screws in it. They’re meant to pin it (so to speak) and then remove pins when leg has caught up. If she has not already had this operation, then I would look into alternatives as there are loads of other options out there now. Each case is very different and it depends on the discrepancy. The other factor that needs to be considered is that the discrepancy (depending on difference) can often dissipate with time- I.e decreases with growth. Moreover, if your gut feels like it’s wrong then hold off and wait until something you feel more comfortable about comes along or seek another opinion. I wish your Niece all the best in the journey.

[Sammyboy_43yrz_old in reply to Christchrurch100]

Sounds like you/we are too late. I figured of today thread was still up, it’d be active...o well.

Anyways; I guess these ppl are on the FB page? I don’t want my FB friends to know this tho! So maybe someone can help here, and ur the latest comment.

I am confused...I thought this was an “oversized tongue” thing? But it’s a leg thing too? I do have a right leg that’s either longer a tad, or the legs bent outward a bit. Gonna go to leg dr. Soon.

But, do u have a tongue problem as well? Did u get surgery on this, I want to see what the post surgery healed picsclooked like??? Cuz I have wide tongue, though I don’t think I have This syndrome? I will ask primary dr. And Sleep dr. As well, since my sleep dr. Said I had just “ a big ol tongue”. But she said this messes up my sleep by blocking airwaves. My throat clinches shut regardless of my tongue however tho.

Maybe I do just have big tongue? But is the post tongue reduction surgery LOOK funny????? Is it all discolored n wilted on the edges, or bright red, or dull white, all wavy n gnarled??!!

Any help here, or other sites other than FB.

God bless y’all

- Sam E.

I’m 43 old male today. And god fearing.

[luischaperu2508]

Hola yo so padre de familia mi hijo tiene este sindrome mi correo para cualquier contacto es [e-mail] soy de nacionalidad peruana, ah y no se el ingles

gracias

[Papymed08]

That great i got a son too who had a Bws when he was born the doctor told me the don't think he cant walk or talk but luckily everything is fine with him he talk and walk when you seen him he just look like other children just the fact is tongue is outside .

[returntomefan]

I was diagnosed with BWS at birth in 1976. I weighed 5lbs, 1oz and I'm not sure how long I was but it was an average length. I had an omphalocele, macroglossia with an underbite, an enlarged thymus (it shrank as I grew) and a heart murmur. The omphalocele was corrected the day of my birth. I had an umbilical hernia at age 5 so I don't have a belly button. The macroglossia is very minor and didn't require reduction. I chose to have the underbite corrected purely for cosmetic reasons at age 17. I did have knee surgery at 15 and 16 but it was unrelated to BWS. I'm of average height as an adult. I have no issues in my daily life. I went to college(made Dean's List) and I'm employed at a major university. No one would ever know I had BWS. I am very blessed.