Moving Forward

I don't play the "waiting game" very well. My doctor's office had difficulties locating the correct group at DHMC for the appointment, so one afternoon I decided I had waited long enough and both located the group, had a phone consultation, and set my first appointment.

I spoke with a genetic counselor, Sheila. She is wonderful! She knows the syndrome well enough to both ask me many direct questions and effortlessly provide answers to mine. It already seems like I have found the "right" place. Sheila advised me to make the appointment a month out so we have time to gather medical records, mine as well as my sister's, and give the group some time to pour over these. She also understood that there would be more in my sister's records to support a diagnosis of EDS than in mine.

My sister had several dramatic medical incidents that required medical/surgical support whereas most of my symptoms are not something I would consider taking to a doctor. Until a few weeks ago I wouldn't have considered my flexibility a problem; double-jointed joints runs in the family and is just a way of life. My skin being loose; never thought to check the skin on other people and it is not loose all over, mostly on my hands and neck. My joints snapping and popping and the discomfort/dislocations that result mostly happen in the winter and in association with major storm systems; I always thought it resulted from old joint injuries and the atmospheric pressure changes - I even enjoy being a human weather station! I had been working on an excuse for the discomfort in my hands, feet, hamstrings, calfs, biceps and triceps each winter - but am now finding it is normal because of the extra support these muscles have to provide the joints in my extremities when arctic cold weather arrives.

To top off the initial phone consultation, my doctor's office found the correct place the same day I did. Sheila noticed an appointment had been made for me in Lebanon, whereas I made my appointment in Manchester (shorter drive and can be done after work). She called me immediately. I know I am in good hands.

Random Research

I wanted to know if there was a connection between Marfan Syndrome and Ehlers-Danlos. What I found is that they have some similar symptoms in relation to collagen but they are caused by different genes. The genes involved with Hypermobility EDS are COL3A1 and TNXB. Interestingly, COL3A1 is reported to be the one primarily responsible for the Vascular type and TNXB with another (I think it is the Classical type, but am not sure). I found most of the information at John Hopkins University's OMIM - and, WOW, did it push my medical/genetics understanding!

Some other pieces I found in my random web wanderings is that collagen is the primary protein in the body. I don't remember where I read it, but I think it accounts for something like 25% of bodily proteins. It's production is linked to Vitamin C - so I will now be taking more until informed otherwise :-) . I also found that proteins are broken down and removed from the body by enzymes such as protease and bromelain. Bromelain is found in fruit such as pineapple and I am going to avoid it for a while.

Paranoid? Maybe . . .

Doctor's Visit

My visit today did not provide any surprises. I did my homework ahead of time and made sure that I not only knew as much as possible about Ehlers-Danlos but I also looked into what was available at both Dartmouth-Hitchcock and Mass General. My family physician asked me about my sister, my own flexibility, and my current thoughts. He stated that he did not know much about the syndrome and would have to research it - so I mentioned that Medical Genetics at Dartmouth-Hitchcock (DHMC) states on their website that they provide services for Ehlers-Danlos. He replied that it would make more sense to refer me to them. Now I am awaiting a phone confirmation of my initial appointment.

I am more than a little nervous. Forget the potentials of testing results; I dread car rides. It will be about a 2 hour drive each way, and I find that a half-hour drive to work can sometimes leave me sore. It is amazing how the winter affects my joints; it leaves me sounding like a batch of popcorn and feeling like I've enjoyed an afternoon of soccer when all I've done is get out of bed and walk downstairs. Tree has offered to drive me, but the initial testing will be just on me and it makes more sense for him to stay with the girls. If/When the girls are involved I will definitely take him up on that offer; I can move around more as a passenger than as the driver and will want him fully involved in any decisions made concerning them.

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.