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.