Wednesday, February 14, 2007

Too much information, not enough answers.

Have you ever had one event in your life become the catalyst to answering many questions? Then you discover the old saying, "for every question answered, two more questions are revealed," is true. That is where my journey begins.

My youngest sister died October 24, 2006. No apparent reason; just collapses and dies. After 3 months of speculation we are informed of her cause of death: Ehlers-Danlos Syndrome. The coroner even provided a pamphlet so we knew a bit more about the syndrome.

It took about two weeks for the shock to wear off enough for me to start researching this syndrome. I started with the Ehlers-Danlos National Foundation and still consider EDNF my primary source for information.

From the descriptions available I currently believe she inherited two forms of the syndrome, Vascular and Hypermobility. Why both? She and her daughter match the physical descriptions of the vascular type exactly. She also was extremely flexible and frequently dislocated several joints, one to the point that she required surgery to pin it in place. Add to that, her son's fingers are unable to manipulate buttons and zippers because they bend so far backwards but he has no overt characteristics of the Vascular type. Since the syndrome is "true to type," meaning that if a parent has a specific type then the child has the potential to inherit that type only, she would need to have had both genes to pass one of each type on to her children.

Then, I took a close look at myself. I, too, have very flexible fingers. I have scoliosis, subluxations and frequent dislocations. In elementary school I was commonly asked to demonstrate that I had a full split (and never took gymnastics), could bend my fingers into weird positions, pull my skin far from my body, even pop almost any joint - including my spine. It was neat then, but now I am worried. I have two young children who are also flexible, and my youngest has difficulties with her fingers dislocating.

I spoke to my chiropractor about my concerns yesterday. He had not heard of the syndrome, but looked it up in Merck's. As he read through the description he commented that it sounded similar to Marfan's Syndrome, which he does know about, except that it is a mutation in collagen (I haven't looked into this connection as of yet). He asked me to demonstrate the flexibility in my fingers and skin, then suggested that I not only find a way to get my children and myself tested (especially try to find a genetic test) but that from now on he will approach my care as if I do have Ehlers-Danlos.

I have an appointment with my family physician this Friday to discuss the possibility of having my children and me tested. I am not expecting him to know about the syndrome but hope he will be open enough to either research where/how to have this done or refer me to someone who will.

Until I have more information all I can do is speculate.


scott said...

you will need to talk to a medical geneticist. your best bet would be dartmouth or boston.

Margaret said...

It seems as though the skin test mentioned for Vascular EDS would be easily obtained (for suitable definitions of the word "easily"). There didn't seem to be much information about how to diagnose the Hypermobility variant at Ehlers-Danlos National Foundation and since not everyone will display the physical traits of Vascular, I would suggest your nephew be tested for EDS type IV since it is indeed a dominant trait before fearing the worst.

I won't even guess at how difficult it would be to convince the insurance companies (even the state CHPS variants) to run these tests. Perhaps there are research protocols out there with which you can become involved?

Christa said...

My family phys told me to go to a dermatologist for the skin test. The dermatologist has already agreed to do it.

Tammy said...

Scott - thank you for mentioning a medical geneticist! I looked into it and found that DHMC has a division that specifically mentions Ehlers-Danlos.

Margaret - luckily I have a "reasonable" insurance company. Since I am obtaining a referral, all I will have to worry about (at least initially) are the co-pays, but I don't know how much will be covered overall.

Christa - I hadn't thought about a dermatologist, but it does make sense. I don't have one and am finding there is a three to four month wait for an appointment. I don't think I have the patience left for that :-)

danny shelly + megan said...

if you need us at all, call us.. we're good for rides, babysitting etc. know that you are in our thoughts and prayers... we love you!!! danny shelly + megan