This is an image from a medical textbook demonstrating different kinds of hypermobility that may occur in people with Ehlers-Danlos syndrome.

We Need Research on Ehlers-Danlos Syndrome

Note: This post contains medical language and discussion of early death.

Are many young adults with autism dying preventable deaths because they and their families are unaware of Ehlers-Danlos syndrome? When I was a member of the Interagency Autism Coordinating Committee (IACC), I commented when representatives from Autistica UK presented on early death for adults with autism. They didn’t mention Ehlers-Danlos syndrome. I talked about Ehlers-Danlos, my son, and the fear that no one is researching or talking about this. I hadn’t heard anyone previously, and I haven’t seen anything on the topic since. That’s a problem. It’s especially a problem for me and my son.

My son was a serious baby.  He was a bit floppy, delayed in crawling, sitting, and walking.  He learned to do all three before he was 14 months old. What he did not do was speak. After several rounds of diagnostic testing, he was diagnosed with PDD-NOS at age 4 and autism at age 6. He was a bit gangly and uncoordinated but then again so was I. I didn’t think there was anything unusual about it.  My son also had stomach issues and often had a distended stomach.  A very keen doctor asked, “Does he have Ehlers-Danlos?” I didn’t know what that was.

Ehlers-Danlos (EDS) is an inherited disorder that affects connective tissues like skin, blood vessel walls, joints, and even the heart. There are several types including Hypermobility, Classical, and Vascular. The hypermobility type is the most common type. Hypermobility means that joints bend munch more than they safely can. There is a high risk of dislocating a shoulder or other joint. People with hypermobility type may have very smooth skin that is sensitive and easily bruised, muscle spasms, arthritis, and nerve pain and numbness. The classical type of Ehlers-Danlos affects skin in addition to joints. The vascular type is the most dangerous and worrisome to me. There is a possibility that arteries and organs like the intestines might suddenly break down.

I was amazed that I had never heard of Ehlers-Danlos. Why did no other providers even mention this? Some of the symptoms of EDS seem similar to symptoms associated with autism.  My son walked later than most children, talked later than most children and has gut issues. EDS can cause all of these issues.

The doctor referred us to a genetic specialist. She examined my son and then looked at me.  She asked me to bend my fingers back and touched my smooth skin. I always knew I was super flexible, had no muscle tone whatsoever, was uncoordinated and had flat feet, but who’s perfect? I’d never really considered any of these things to be a real problem.  Then the geneticist told me I likely had Ehlers-Danlos.

The geneticist ordered blood tests and microarrays for my son even though there is no specific genetic marker or way to test for Ehlers-Danlos precisely.  Based on her examination of both of us, she made the diagnosis.  We have the classic type which affects skin, joints, and motor skills. She didn’t think we would have heart problems, but that could change. We both get regular checkups to make sure.

Many co-occuring conditions come along with Ehlers-Danlos that keep me up at night worrying about myself and my child.  I feel that many other adults with autism and families of children with autism should be made aware of EDS. I was on a Government Office of Accountability panel last year to identify service needs for transition age youth with autism. Ehlers-Danlos came up. A panelist mentioned that adults with autism are dying from undiagnosed Ehlers-Danlos. They have blood vessel ruptures in their sleep and die. I cannot verify the truth of this statement because there is virtually no research.

There is enough research to support the fact that adults with autism are dying earlier than then their peers without autism. A Swedish study showed that the average death for an adult with autism is 54 years. Will my beautiful boy who loves Legos and electronics, and who is so bright it scares me die earlier than his peers?  Will he suddenly burst a blood vessel?  Why am I not hearing more about Ehlers-Danlos and autism?

Autism has so many co-occuring conditions that may affect people like my son. There should be more dedicated research dollars to investigate if and how Ehlers-Danlos links to the early deaths of adults with autism. If adults with autism are dying from undiagnosed co-occuring conditions that can be treated, we have a responsibility as a society and to investigate. Health disparities for this population are not researched well, but as a public health professional I can infer that this population does not receive nearly enough attention

We will have failed this generation of young people and adults if we do not do more to understand them, protect them, and prevent them from dying young. My son has so many challenges he has had to overcome and he has done so with his goodness and sense of humor intact.  He deserves to have a good life. There should be more research dollars be invested into Ehlers- Danlos and autism co-occurrence to help my son and people like him live their best lives.

 

27 thoughts on “We Need Research on Ehlers-Danlos Syndrome”

    1. Hi, Shannon!
      There is a wonderful community of folks with Ehler-Danlos in RVA. They have a very active support group and may be able to help encourage more research!

    1. Actually the have just found the gene for EDS HP but it’s early days so still unable to use a blood test for diagnosis. Just saw this on the news last week.

  1. thank you thank you thank you!
    i wish i could link the research… 50% chance of a parent with EDS passing it onto their children… 30% chance that same child may also be autistic…
    there So needs more research as does EDS as a whole… i have EDS, as do both my children with the youngest having it, like me, rather severely and the youngest is autistic.. i only learnt what i have while taking my autism degree and having access to peer reviewed research.. there is not a lot out there sadly… and it seems EDS is not as rare as once thought..

    so thank you. thank you for this article and highlighting EDS as well as the real possibility of a link between it and Autism

  2. We do not have the autism disorders in our family but we do have hEDS. I lost 3 pints of blood in a miscarriage, my sister almost bled to death post-op from cervical cancer surgery and my mom died post-op from a hysterectomy and bladder tack-up. If you are on the Inspire sites very much you can see a pattern of hemorrhage from pelvic surgeries. However, the medical community isn’t discussing this. Why not?!?!?

    1. Thank you for sharing this. I had no idea. This explains a lot. People should know about this. I had the bleeding issue after my c-section. Now I know why.
      I am so sorry you and your family have had to go through all this. So sorry for you losses as well.

    2. I had serious bleeding issues after a partial hysterectomy in 1995, and after a breast biopsy 10 or 12 years later. I’ve had other surgeries for bad joints and cervical vertebra. But I wasn’t diagnosed with hEDS until last summer, at 60. That has explained so many health issues for me, going back to infancy. I also worry about my grown sons and new granddaughter. At least they’re aware and can look out for symptoms and, hopefully, minimize damage if they’re impacted. I hope you and your son continue finding answers that lead to healing. And thank you for trying to raise awareness for all of us.

  3. Our family have EDS – it affects each of us differently and to different extent. It’s not the vascular type so everything I’ve read about it is that it doesn’t shorten your life span. My grandfather lived well into his 80s and my mum who is the carrier with mild symptoms is 92. A great nephew has autism but he’s the only family member. Does the research say that those who have shorter lives have EDS AND autism or was it referring to those with autism alone? I’ve found that having an excellent physiotherapist has helped me the most. I know how to manage my joints now, what shoes to wear, which exercises are safe etc. I’m 70 next year, full of beans, ride a bike to keep fit and learn as much as I can abt EDS to help my large family. My sons have had their hearts checked to make sure they are ok which put our minds to rest. Best of luck. Bron

    1. Thank you for sharing your experience. I also have eds, but not Autism.

      If you read this article, please don’t leave with fear. Leave with hope and more knowledge about your child or yourself.

      While there is one form of eds that is very serious, vascular, the others are manageable. We need to strengthen our muscles and bones, and be careful to never over stretch. We also need good support for sleeping, memory foam and extra pillows.

      I do break blood vessels… mostly on my hands. It’s weird, and annoying, but not dangerous.

      Injuries take longer to heal, but they do for the most part.

      Please take heart, that there are large communities of people who will support you through this medical journey. We may have different illness to go with it, but we are so willing to share our hope and tips and tricks to help others.

  4. But can your Asperger Child have this syndrome also if none of the parents have it? My son is very flexible. (he can bend his toes up and bend his thump down to the back of the forearm among other things ) how do I know if I need to get him tested? He spoke early but he was late with walking (he was 18 months when he started walking) he doesn’t have any gut problems…

    1. @Lea, I am Shannon-Marie’s husband and Logan’s father. I am not a doctor, however from my discussions and interactions with the medical community your son exhibits many of the traits of EDS. In your shoes I would bring it up with your PCP and press for a referral.

      In our case knowledge is empowering. It allows us to tailor Logan’s activities and recognize the behaviors that EDS triggers for what they are.

    2. Parents can be carriers, without manifesting the symptoms.
      If you are both *carriers*, you don’t have to actually *have* eds to pass it along.

  5. From what I read here…That means I have EDS. My youngest has Autism.
    My eldest is so active, that he hardly sleeps.
    My Aunt had Autism, My Mothers Cousin had Autism.
    Looking back through my life especially school, I believe I may have a mild Autism, me and my Autistic son have similar traits.
    Thank you for posting this…..

  6. This has been a very interesting read and definately needs sharing as far as possible. My son underwent tests fir Marfans syndrome which again is a genetic condition with the connective tissue, the symptoms are very similar and wonder if they sone how connected to autism. There isn’t a lot of info on Marfans either and can be subject to change as you get older.

  7. My daughter is 25 and has only just been diagnosed with hypermobility, due to prolonged pain in her sides, back and legs. She has been a diagnosed severe Dyspraxia, Dyslexia, Dyscalculia since she was a small child.
    I suspect the same link, how do I get this looked into in the UK?

  8. Thank you for raising the point about lack of research. I have Ehlers-Danlos. After the diagnosis, I faced consistent ignorance from doctors. Eventually I gave up on seeking medical treatment. Best wishes to all who face the challenges of EDS and ASD. I’m hopeful that more research and better treatment will be in our futures.

  9. I have confirmed hybermobility and fibromyalgia. I have other symptoms that could be EDS, but am not able to get any proper answers to weather I have it or not. Please is there any questions that I should be asking or specialists I should be asking to see. I see a rheumatologist and a neurologist. Thanks for any advice.

  10. This is very interesting. My high functioning autistc daughter has the hyper joint mobility.and has had life long digestive isssues. What I find fascinating is that her high functioning autist boyfriend ‘s mother suffers from the vascular form of this condition.

  11. Hi l so agree with you about EDS and a link with Autism. l have EDS 3 and my son who is now 35 has Austism l also know 2 of my friends with EDS have sons with Autism. There must be a link

  12. I’m not a doctor but unscientifically I’ve also observed what seems like a very high rate of comorbid autism and at least the most common form of EDS: the hypermobile form. NB there *used to be* six main types. That’s about to change as of March 15, 2017 after the new nosology is published in the American Journal of Clinical Genetics I think. But… yes, those former six main types comprise the vast majority of cases by far (the rest are one off mutations in just one or two families in the world, so extremely rare, and not all involve collagen directly either), and the hypermobile form comprises the vast majority of EDS cases by far.

    And no, it is not likely to be m ore lethal unless you aren’t aware of the secondary issues it can lend to or some of the other comorbidities. Only some of the more rare types are whch yes should be ruled out when suspected. (Very few will have those thankfully.) Talk to a medical geneticist who is savvy on it if can ideally. I recommend http://ehlers-danlos.com for help finding support and doctors.

    I first noticed this comorbidity in real life as a support group leader after I “fell apart” suddenly at 45 in 2012. Everyone’s kids were autistic! And some even asked if I had Asperger’s. I’m not diagnosed, no, but after looking into it, I can totally see why they thought so. (I share a lot of traits, but remain undiagnosed.)

    Then I noticed this same high comorbidity of autism and EDS online where I’m in groups of upwards of 20,000 or more. As well as in the comorbid MCAD groups. Mast Cell Activation Disease also goes with both at a high rate as I wrote about here:

    http://ohtwist.com/2015/04/03/mcad-linked-to-autism-april-2015/

    Not 1:1 no, but darn high. Everyone with EDS and/or MCAD (any flavor) seems to be either on, or related to someone on the spectrum, or otherwise neurodiverse in some way. I call it the “subclinical soup” of autism: ADD, OCD, SPD, etc. We also “enjoy” loads of depression and anxiety alas too. I also took not one but two Autism “Summits” online and felt like they were describing my support groups to a T – minus teh hypermobility. Plus, all the same functional medicine solutions (proper bioindividualized diets, gut health, brain training, immune support and more) were working for them as for us. Kind of like the 6 blind men and an elephant fable. We’re all touching parts of the same animal, but just don’t realize it yet.

    The good news as some have shared is there IS increasing hope and help as more doctors slowly start to recognize EDS. I contend strongly hEDS is not rare, just rarely diagnosed, and mostly as fibromyalgia in its milder forms. While there is technically no cure (being genetic – as far as we know), I’ve met vascular patients in their sixties, and my aunty is almost 93 also. I’m also walking again (and well) at 50 after being suddenly wheelchair bound( a rare experience, please don’t panic) 5 years ago, and just made a vow to run a triathlon before I’m 60. I’m betting I’ll succeed well before then now that I know what I’m working with. (Oh that’s why I was so tired all those years and couldn’t keep up!)

    I’ve found high dose vitamin C (in a form you can take, many react to ascorbic acid as it’s made from corn they are allergic to), and magnesium to help me the most. Plus juicing and custom PT and water therapy. I’m this> <close to going back to work again part-time too. Not full time mind, but still… a far cry from the shattered person I was five years ago.

    But I thoroughly agree this should be studied, and at the very least, brought to light more as I've been trying to do for the last four years. I write about my observations here:

    http://ohtwist.com/2016/02/17/the-chronic-constellation/

    Thanks so much for sharing yours on this forum!

    1. Hi Jan,

      Thank you so much for your comment! However, I would like to ask that you avoid using the phrase “wheelchair bound” going forward. Many wheelchair users find it offensive. Wheelchairs, for most people, are freeing and grant an increase in mobility and options that were not previously possible. You can learn more here: http://www.huffingtonpost.com/2013/11/01/how-to-talk-to-person-with-disability_n_4191830.html

      Sara Luterman, NOS Magazine Editor

  13. I belong to the KFS Sisterhood (private) group on FB. A lot of the members also have EDS and post a lot about it. There is also a public KFS community group. KFS=Klippel/Feil Syndrome, a rare disease characterized by congenital spine abnormalities (most common is fusion of cervical vertebrae–causing shorter necks). The Sisterhood moderator has made great strides in getting KFS included in Rare Disease activities.

Leave a Reply

Your email address will not be published. Required fields are marked *