Living With EDS -- Full-Length Patient's Interview

Ivanhoe Broadcast News Interview Transcript with
Judy Sobel, EDS patient and support group president in Atlanta, GA
Topic: Living With EDS

How did you find out you had Ehlers-Danlos Syndrome?

Sobel: I have had strange arthritis symptoms since the 3rd grade. I was thought to be somewhat of a hypochondriac as a kid. I always had weak ankles, flat feet, and could do stupid human tricks with my joints like bending my thumb parallel with my forearm. In my 20's, I started to display swollen joints, which came and went.

My orthopedic surgeon, who did a synovectomy on my ankle in 1982, said the damage looked like rheumatoid arthritis but the pathology report said it was non-specific inflammation. He referred me to a rheumatologist who diagnosed it Palindromic Arthritis or SNIP (Sero-negative inflammatory polyarthritis). Basically, I was treated symptomatically. In 1995, I was active on an arthritis newsgroup. One of the members had just been diagnosed with Ehlers-Danlos Syndrome and listed some of the symptoms. I was 55 years old at the time, but I felt as if I was reading about myself. I started researching it, which is difficult since there is so little information available and most of it is incorrect or out-of-date. I called around to find out who diagnoses it and found that the best place to go was a children's genetic clinic. I was diagnosed officially at Children's Healthcare of Atlanta, affiliated with Emory University Medical School. I then entered a research study sponsored by the National Institute of Health run by Dr. Claire Francomano as part of the Study of the Human Genome where it was confirmed again.

What symptoms did you experience?

Sobel: My symptoms, which confirmed the diagnosis, included hypermobile joints, soft, velvety, fragile skin, easy bruising and bleeding beyond what would be expected of an injury, "cigarette paper or papyrus" scarring, internal stretching of organs, poor wound healing, collapsing spine, prolapsed bladder, prolapsed uterus, hiatal hernias, arthritis, and fibromyalgia. Although there are about eight different kinds of EDS, there is much overlap in symptoms. There is the classical type, which has the main symptom of very stretchy skin. I have the most prevalent type, hypermobile. My ligaments and anything made of collagen is so stretchy that it doesn't hold joints together properly. I inherited it from my mother who is 91. She has baby-fine skin and her only appearances of EDS are two toes that dislocate. I, on the other hand, have already had 17 EDS-related surgeries. My middle son inherited it from me and has a mild case to date. I am watching my granddaughter with an eagle eye because at 3 she is extremely hypermobile.

How many doctors did you go to before it was properly diagnosed?

Sobel: Although I love my rheumatologist dearly, when I asked him if he thought I had it, he said, "No, it would have been picked up in childhood." I had two geneticists confirm it. Many of the people in our support group have had the same experience. It was suggested by friends, therapists, but not picked up by doctors unless the symptoms were severe.

What treatments have you had?

Sobel: There is no treatment directly for EDS. The tissue typing is only valid for the vascular type. I had tissue typing at the National Institutes of Health. It found mutant genes that indicated EDS but not what type. For classical and hypermobile types, only the symptoms can be treated. The treatments involve splinting and bracing for loose joints or even wheelchairs. I was on crutches for three weeks this summer and pulled my shoulder out of joint. For those whose fingers bend backward there are ring splints. I have found water aerobics to be my salvation. I see my rheumatologist frequently and he helps with splinting, arthritis pain medications, and joint shots when needed.

What did they do for you during your recent surgery?

Sobel: This was my fifth spine surgery and second cervical spine surgery in three months. Because the ligaments holding the facet joints together have stretched, it caused the cervical joints to rub together causing osteophytes in the spinal canal with severe spinal stenosis as the result. Two days after I was dismissed after my last checkup showed things going well, I developed an excruciating pain in my back and total numbness in my last two fingers. In that short period of time, a cyst had formed in my back compressing the spinal cord and causing partial paralysis that possibly would not be reversed. After the emergency surgery on Jan. 14, I am happy to report that it was reversed and I am making a slow, but steady recovery.

Has your health insurance covered treatment?

Sobel: I paid for my own genetic diagnosis and did not sign the consent form to release information. I share the information with other doctors on a need-to-know basis. Since it is a heritable disease, I didn't want to saddle my children or grandchildren with the possibility of that information on their records. When I have surgery, EDS never appears in the diagnosis. I haven't had any insurance problems so far.

What are your biggest fears and concerns with EDS?

Sobel: My concerns are no longer for me but for my grandchildren. I want there to be enough information so should they be officially diagnosed, they will get the proper educational assistance available.

How has your lifestyle changed with EDS?

Sobel: I was 55 when I was diagnosed, so I can't say that it changed my lifestyle except that it relieved me to know that I had never been a hypochondriac, that my complaints were legit although some of them are unsolvable. It also allowed me to be relieved of guilt I had for years due to some medical disasters, like having a ruptured appendix when three weeks pregnant both of which were misdiagnosed, having a child with some severe problems, going into premature labor with twins and losing one of them because my uterine tissue couldn't take the strain.

Why are you so passionate about EDS education?

Sobel: Because I could have made better choices with my life if I had known about EDS. My children and grandchildren will have the knowledge, if they want or need it, to avoid some of the problems I faced. Every day, as the support group leader, I get calls from EDS patients who need all kinds of help and don't know where to go for it because our doctors are so uneducated, misinformed or worse yet, think they know what they don't know. I wish I had time to tell you the horror stories of surgeries where patients died, almost died, ended up worse than when they started, because of the lack of knowledge.

END OF INTERVIEW

This information is intended for additional research purposes only. It is not to be used as a prescription or advice from Ivanhoe Broadcast News, Inc. or any medical professional interviewed. Ivanhoe Broadcast News, Inc. assumes no responsibility for the depth or accuracy of physician statements. Procedures or medicines apply to different people and medical factors; always consult your physician on medical matters.

If you would like more information, please contact:

Ehlers-Danlos National Foundation
6399 Wilshire Blvd. Suite 203
Los Angeles CA 90048
(323) 651-3038
EDNFBoard@aol.com
http://www.ednf.org/