Tuesday, 10 May 2011


Evelyne was diagnosed with Beals Syndrome (Congenital contractural arachnodactyly) at 15 months of age.  We have gradually found out more about what living with Beals Syndrome will mean for her and us in the long term. Due to its rarity, there is little information available and many of the health professionals we see also have little or no experience with this condition. 

I have decided to start this blog to put down our story, as well as to make available information on this condition as we learn about it.  I also hope to include the experiences of others around the world also living with Beals.

Beals Syndrome is a genetic disorder which affects the connective tissue in the body.  People with Beals will have varying features of the disorder including long limbs, long fingers and toes, contractures of the joints, hyperflexible joints, club foot, crumpled ears, scoliosis.  It has some similarities to Marfan Syndrome and until recently was often misdiagnosed as such.

There were many indications from birth that something strange was going on with our beautiful little baby.  She was a tight little ball who didn't want to stretch out! She had what we thought were funny ears, fingers and massive feet. I also had trouble feeding her due to low muscle tone. It wasn't until a couple of months later, when her joints were still not straightening that the doctors sent us to a physio.  It was around this time that I noticed the lump on her back which I suspected to be a scoliosis.

At about 6 months of age we got put in touch with Westmead Childrens Hospital genetics and rehab teams and things snowballed from there!  The official blood test results confirming Beals Syndrome took almost a year to confirm.

We have come to see that God has given Evelyne the perfect personality to deal with her condition. She is a happy kid, with amazing independence and determination. At the age of two and a half she now plays, runs and dances with other kids and wants to do everything herself! I'm looking forward to writing more about our experiences and our little girl soon.


  1. Hi Lou,
    Love the blog, it's a great idea and I'm sure people will find it very helpful. I like the idea of getting other people in your network involved.
    Love, Dad

  2. Great to see you blogging.
    I look forward to following the joys and struggles Evelyne's condition sends.
    What a great blessing to the world this little blossom is.....as are you and Jon.
    Ally <'v'>

  3. Good start, Louise. Looks great and reads well.

  4. I look forward to following your blog Louise!

  5. I'll be following along. Thanks for sharing your story. Xxx

  6. Hi Louise, I followed your sister's blog to get here. I was a physio before I had my kids and worked with children with quite a few rare conditions but never Beal's. I look forward to hearing more about your experience so I can know more for the future.

  7. Your link was sent to me via a friend. My daughter and son both have a variant of beals syndrome. It's never been named but dr beals himself before he passed diagnosed our daughter. Would love to chat with you sometime.


  8. Evelyne is a resilient little girl and has already taught many adults a lot. Thank you for the first step in sharing the journey.
    Lynne J

  9. Great to read your first post - we are always encouraged by your family.

  10. Great blog! I was thinking of doing something similar as well as its so frustrating not knowing alot about beals syndrome! I just want to say I'm so glad I have found you and don't feel like the only mother in Australia with a beals baby! You have a beautiful family and I look forward to getting to know you!
    Terri-Ann xx

  11. Thank you so much for sharing your little girl's story ...you don't know much you hope and inspiration you have provided me for my daughter :) Every person I come across with a beal's baby let's me know we are not alone in this scary journey--when I look and your daughter and Terri-Ann's son I see my daughter!! They share the same characteristics and that's amazing for me to see

  12. Hi Louise,
    I just found your blog - and I'm very happy that I found it.
    I'm 21 years old, from Switzerland and diagnosed with Beals Syndrome right after I was born. I was the second person diagnosed with Beals in Switzerland. I read the interview on your sisters blog and I know the questions and hopes that Evelyne has very well. After 9 surgeries on my spine they stiffened a part of it when I was 6 years old. The scoliosis was much better afterwards and I could put on a pullover by myself. It didn't stuck on my hump anymore. Ever since I live without pain and without breathing problems. When I see Evelyne on the photos, I see much of "me" :-) I often prayed to god that he should please give me a normal body. But with the years I understood, that god gave me a lot of positive things through my syndrome and the difficult circumstances. I live a life full of joy, I'm thankful for what I have and I can help a lot of other people. I still look different than a "normal" 21-year-old woman. My back is full of scars, still a bit a scoliosis and I have very long and slender arms and legs. I'm still learning to deal with all the stare and the comments from people on the street. But it's getting better.
    I love the sentence that Jesus said in John 9,3 concerning the blind man: "but this happened so that the works of God might be displayed in him." God has a wonderful plan for Evelynes life.
    thank you for this blog!
    blessings, Rahel

  13. I'm a 25 year old male from the US. I was diagnosed with Beals syndrome right after birth. I've been through a-lot of surgeries and therapy growing up. I am now a very well-adjusted, happily "MARRIED", productive member of society. I would like to let all parents of children with Beals know that my parents did the world for me, put in tremendous amount of work and energy into me and only thanks to them I am doing amazing. PARENTS do all you can for your special little bundle of love. It might be a long, difficult road ahead but as they grow up and mature you'll see it was all worth it. G-d bless.

  14. Hi Louise,
    My mother-in-law forwarded me on to your blog yesterday. I have a 2 year old daughter who does not have Beals syndrome (she has an undiagnosed neuromuscular disorder) but she does have severe scoliosis, which as of last month was >100%. Last month her orthopaedic doctor said she was going to need surgery asap, but unfortunately at our appointment last week, he said she was still too small and will require a cast in the new year to prevent it from worsening until she is able to have surgery. Your blog came at the right time for me and has provided me with a lot of information and insight of what to expect come casting day, so thank you!