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I Have Beals Syndrome

Hi! My name is Sarah and I have a rare genitic mutation called Beals Syndrome. It is brother to Marfan's Syndrome.My Beals is the most extreme type one can have. Though I can still do every normal thing that anyone else can. But i had an 11 hour surgey on my back when I was five years old. Anyway,I hope to meet someone new to talk with who has a similar thing.

InvisibleSarah InvisibleSarah 19-21 18 Responses Mar 7, 2008

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Hi, my name is Bella and I am 13 and live in California and was diagnosed with beals syndrome when I was around 2 years old, and I have scoliosis. When I was younger I had a lot of back problems and was going to get a brace, but now I don't have those problem as badly anymore. The way beals has affected me is majorly with my appearance, especially how skinny my arms,legs, and fingers are compared to other peoples. Ever since I was in 2nd grade, people have called me names like "alien" or "chicken legs" or even "twig". Like most of you guys with beals, it's affected my self-esteem A LOT. I don't wear tank tops, shorts, dresses, short sleeves, or skirts in public because I'm self conscious about my appearance. Even my friends will sometime make rude remarks about my skinniness and people sometimes assume I'm anorexic. Sometimes i really wished I had a friend who has beals so they could understand, but that's what this website is for, right? <br />
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Although, I'm grateful that I don't have it as bad as other people do, but it really sucks having beals, ya know?

Hi Everyone! My name is Amy, I live in Toronto and I have Beal's Syndrome. My great grandmother (who I never met) passed it to my grandfather, who passed it to my father, who passed it to me. However, it turns out we were all misdiagnosed with Marfan's. In fact, all of my family members still call it Marfans and report this to their respective healthcare providers to this day. I was rediagnosed by a pediatric cardiologist at Harbour/UCLA Medical Centre in California at age 15 with Beal's syndrome which made so much more sense to me. I have never met anyone with Beals that I am NOT related to. I am interested in this page to share my experience and offer support to others that are affected by this condition.

Hello. I'd actually like some help from you all. I am 18 and I've been plagued by different medical issues since I was a kid (scoliosis, poor eyesight, hammertoes, etc.) and my doctor has never really given a reason for these. I know that it doesn't mean I have Beals but out of everything I've found Beals fits my symptoms best. I have a crumbled ear, long fingers and toes, lack of flexibility, chest pains that come and go, inability to gain weight, and severe pain in my joints. Do any of you have any suggestions on how to mention this as a possibility to my doctor and do any of you have any other resources I can look at for more information on Beals. Any help would be greatly appreciated.

Wow i am so glad i found this page. I am a 17 year old senior who has been recently diagnosed with beals. I have been to world renown doctors and have gotten 7 different answers that have constantly made me mad. All my joints in my body are basically locked. I can do everything a normal teenager can do, in fact i play several sports but my flexibility is absolutely incredible in which i cant even sit straight on the floor. When i sit down on the floor and i cant fully extend either one of my legs and i am in serious pain, my back is hunched over and i cant straighten it. I experience some of the worst cramps you can possibly imagine basically paralizing one leg at a time. Sometime you can actually see my muscles tangle and tighten. When i am literally doing nothing both my legs seem like they are flexing uncontrollably and at times it is extremely painful. Just a few moths ago i went to the doctor because i need foot surgery because i had hammer toes. Later to find out my entire body is messed up. I am very lengthy being 6'4 and only 17 years old. I have bent fingers, tall/slender limbs, crumpled ears and insanely tight tendons and muscles throughout my whole body. I fight through my leg pain playing basketball and golf in high school as well as club soccer. Recently my pain level on a scale of 10 has been like a 13... Im praying that i can feel better before prom and our schools senior week at the beach.

Wow I am so glad I found this group! I am an 18 year old college guy living with a mild expression Beals syndrome (bent fingers, tall/ slender limbs, crumpled ears, elongated toes). I was teased a while growing up. Kids used to point out my "monkey hands" which made me feel self very conscious. However, I never let my condition prevent me from doing anything I wanted. In highschool, I played varsity soccer (as goal keeper) and varsity basketball. I also learned how to play the guitar. Doing these activities was my big *bent* middle finger to anyone who said I couldn't.

To parents: If your child has Beals, make sure you encourage your son/ daughter to pursue their dreams. I often got really discouraged when I was younger and blamed my hands if I couldn't do something to the point of giving up. My parents insisted that I keep pushing on regardless, and I always found a way to compensate with my condition. Also, help your child with esteem building. It was (and kinda still is) hard to build self confidence when you are "different", but my parents were the best cheerleaders and helped me through the tough times.

there is a facebook group for people who have beals..I find its a great chat group to share expierences with..my 14 year old son has beals syndrome also

My 38 year-old daughter has been diagnosed with Beal's. She was diagnosed at about 6 weeks with Marfan's but when her contractures became more noticeable around the age of 7 we had some more diagnostic work done and it was changed to Beal's. Until the internet we never once met/heard of/saw another person with the same problems. <br />
She is quite severely affected, in spite of much physical therapy and some surgeries as a child. The pull of the contractures has changed her bone structure so that her elbows are very limited in range of motion and her hips are dislocated. I am glad to hear there are other Beal's people who are less affected. She has also had problems with blood clots in the past few years. Has anyone else who is an adult with beal's had these same problems? <br />
It certainly is a challenge to live with something that really can't substantially be changed, but must be lived with and can't really be cured, only help with symptoms. I would love to hear from anyone who has found anything that can really help with the contractures. <br />
Thanks.

I also have beals syndrome, i am 12 years old, the doctors say that I'm the only one in Alberta (Canada) who has this syndrome. I am very glad I have found this web site because I have been going through depression and feeling very alone in life. But now that I see that there are other people who have the same thing going on, it makes me a little better!!! I have had surgery on fingers to straighten them out but not on my toes. I feel embarrassed to go swimming because I have no calf muscles, I'm scared that my friends will make fun my skinny legs! I'm gonna start going to the gym next year since I'm still 12 and I have to be 13. My parents dont have the same problem as me so that means my gene was mutated. Anyways thank you so much for listening!!! :)

we are in ontario email is tammyhefford@rogers.com if you wanted to chat with tarron..my son who is 14 also has beals

I too was diagnosed with Beals at birth. I was thew 13th noted case in the world! My wife and are expecting in April, and it looks like our child will probably be born with Beals as well. I was a mild case, but am interested in finding out how extreme this diseas can get.

I would love to chat with you. I have Beals and passed it on to my two boys. My case and my 10 year ase is very mild. We have "crooked fingers" and "hammer toes". My is scoliosis is mild, but my 8 year old has had 19 surgeries so far because of his extreme scoliosis.

I have newborn 4-month old daughter with Beals. Would be interested to hear about any treatments for scoliosis in infants. My daughter has thumb contractures as well as arms and legs. 18% curve in spine and I am paranoid of curve getting worse. 3 stepchildren have extreme scoliosis of spine requiring many surgeries. All 3 have posterior and anterior rods in spine preventing any further curvatures however stopping any further growth of spine.

Hi Everyone, my 9 month old daughter was diagnosed with Beals syndrome a few weeks ago. She was born with contractures of her arms, legs, pinkie finger, and a slight clubfoot. She has really long fingers and toes and one crumbled ear. It is good to know there are groups to connect with other people with Beals--we aren't sure what to expect in the future, but so far we have noticed that she has been delayed with many physical milestones. She can't support herself with her arms/therefore she doesn't crawl, she just started sitting up a month ago, and she can't bear much weight on her legs. We take her to phyiscal therapy three times a month but she still can't fully extend her arms and legs. It's just good to know that there are other people who can relate to her in this world...

I have newborn 4-month old daughter with Beals. Would be interested to hear about any treatments for scoliosis in infants. My daughter has thumb contractures as well as arms and legs. 18% curve in spine and I am paranoid of curve getting worse. 3 stepchildren have extreme scoliosis of spine requiring many surgeries. All 3 have posterior and anterior rods in spine preventing any further curvatures however stopping any further growth of spine. Look forward to hearing from you.

Karen,

My son, who is 8, has the VEPTR system. At what age did your stepchildren have their surgery that prevents any further curve? Did their surgery fix their spine to a 0 degree curve or do they still have slight curvature?

My 2 year old daughter has Beals. She is in a brace at the moment to manage the scoliosis until she is a bit older before they operate.

My wife is 25 weeks pregnant and our child has been diagnosed with Beals syndrome. There was concern when he hadn't opened his hands during the 20 week sonogram and we took the traditional amnio tests that came back negative for any genetic problems. The doctors were still concerened so we took at the molecular level and they determined the reason the baby's hands weren't opening was because of beals syndrome. We are obviously at the very begining stages of learning of this syndrome and won't be able to determine the degree of severity of what's effected until after the baby is born but was wondering if anyone had recommendations on finding information, we are still very lost and are trying to read everything that is out there (probably scaring ourselves).

I have Beals too, although not as extreme as yours. I've never been in a surgery because of it, although I have been flexing (not sure if its the right word) for my whole life and will keep doing so for rest of my life because of the syndrome. It also caused me to have very bad self-esteem when I was 12-16, but in high school it got better when I became alot more social. But the thing which still bothers me is that I would like to get girlfriend, but my self-esteem is still so low that I dont have the courage to approach to anyone in that matter, especially when I had one few months ago but she left me after two weeks, and I kinda blame Beals syndrome for it (and I know you think that she didnt leave me because of it, but there are few things that support my point of view alot).

I have Beals as well!!

hello Beals group. I am 36 yo married, father of two in Florida. I was diagnosed with Marfans e until 1988. I have the typical Beals congenital finger defects along with some scoliosis and some dislocation joint issues in my extremities. First of all let me say my parents were great and my condition in no way held me back in any capacity. yes, I had numerous surgeries as a child and still go to PT from time to time. I have seen/heard many younger scared parents whos children have this syndrome. Take A DEEP BREATH. Your child is fine! In fact he/she is perfect. Remember they may need some extra help but don't shelter them. I have had my ups and downs in my 35 years and will be happy to chat with any parent or person that would like to know what to expect. robear99@gmail.com

Hi my little girl has been diagnosed with Beals Syndrome 2 weeks ago after five long years not sure what , how to feel other than anger, sadness ,though she is great she has difficulties but manages them v well! ?

I'd love to talk to you more about your experience with Beals Syndrome. My daughter was diagnosed at birth with Beals and no one seems to be able to give me much information. She also has the curvature of the spine, some of her joints in her fingers, ankles, elbows, shoulders and knees have gotten better but do not have full a range of motion even with all the O.T, P.T., bracing an stretching.

could you say more about it?Do you have any pain in your back still or something?Anyway i am glad that you can still do everything and hope to learn more about the illness for if it's simular to <br />
marfan,i might help if you need to know something.Hope to hear more of you !