Yoga Therapy

Some of you might think I am a bit crazy but I am really enjoying yoga therapy! I did not know what to expect, but now that I am in the midst of it I really like it.

Most people know yoga as stretching. I knew it as stretching, strength, and breathing. I now know it has a meditation and healing side as well. My therapist, Mary, is trained in using the Chakras for healing. Chakras are the seven energy points formed by our own energy (or conciousness) according to ancient teachings. She is helping me to balance my Chakras through meditation, mantras, and relaxation. If you want an idea about all of this, try this youtube link for a video of Yogi Bhajan: http://www.youtube.com/watch?v=3gG2jBJgkK4 .

I am, today, 18 days into a 40 day cycle. So far I am not experiencing less pain but am finding that I am managing it better. I am more relaxed and more aware of what is going on around me, especially more aware of what triggers the discomfort. The breathing exercises really have helped - especially when my shoulder brace broke and several days later I was in so much pain I went to the hospital. I find that I am now more inclined to slow down and relax instead of becoming tense and upset. I know this is just a start and there is much more for me to learn and try, but if all I get out of the therapy is the ability to manage the discomfort and pain without resorting to pain killers, then it is definitely worth it!!

Physical Therapy

I went through 6 weeks of physical therapy for my major joints (shoulders, hips, knees, elbows). I had detectable improvement in most joints - including my ankles. My PTs and I decided to brace one shoulder and one knee since no matter what we tried I could not keep my shoulder in place nor my knee from bending backwards.

The braces are interesting to live with. The shoulder brace is designed for stroke patients who have lost the use of an arm and need to keep from subluxing the shoulder. It works really well, and even (almost!) eliminated the tension and pain from my neck and shoulder blade! Problem is, since I can still move my arm, it has started to rip. The knee brace has special straps we adjusted to keep my knee from bending backwards. It was interesting to watch me walk for the first 4 weeks of use; I felt like I was learning to walk again.

Though the braced joints are strengthening, I have had problems with my skin. If a brace slips and pinches, then I have bruising that not only hurts under the brace, but seem to not want to heal. On two separate days the heat index climbed past 100 F and I developed a heat rash under both braces. I have started going "brace free" on Sundays to try to promote healing of my skin because in both areas it is now red and blotchy and not wanting to heal. Realizing that the rashes are also itchy and when braced you cannot reach the skin to scratch . . . I've started looking for other options.

I could continue with PT, but it is impossible to go while holding my job. I would have to take a day off twice each week for a half hour PT session. Since I have participated in Yoga on and off since college I know that it is not just about flexibility but many forms also promote strength. I started calling around to find a studio that had an instructor who held afternoon or evening classes and would be comfortable working with my challenges. One of my PTs suggested a studio his wife recently started at, which is actually located between my work and home. The head of the studio had me speak with one of her guest instructors who is a Yoga Therapist. I had not previously heard of a Yoga Therapist, but called and was impressed. This woman specializes in using Yoga to heal the body and believes, with the help of her colleague who is a doctor who specializes in naturopathy, that she can help further strengthen my joints and significantly reduce the pain and fatigue. I've agreed, and will have my initial session next week.

More later!

Update

It has been a while, but I now have some more information. Unfortunately answers will probably never be available due to how little is known about EDS.

It is now believed that my sister either had Vascular or Classical. I present with either Classical or Hypermobile. My test for Vascular came back as negative, but there is a 1 to 2 percent chance of error. This leads my geneticist to believe I most likely have Classical since types run true in a family. Also, Classical can present differently in family members - with stronger manifestations in different affected areas. That would allow my sister to have more vascular symptoms and myself more flexibility. Problem is there is currently no way to genetically test for Classical and, until another family member has a diagnosis, no one else to whom I can be compared. So, we decided to err on the side of caution and list me as EDS-Vascular (just in case that 1 to 2 percent chance has hit me).

What does this mean? I am ordering a new ID bracelet and will notify my local EMS services of my condition since I will need special treatment in a trauma situation. I will have an echocardiogram every few years. I have been instructed for specific vascular complications to watch for - especially pain in my chest or between my shoulders - and to get myself immediately to an Emergency Department if it happens. I have to work on strengthening both my heart and my muscles. Yea for physical therapy! Since I am still considered young and my heart shows no complications I am to push myself so that, if complications arise, I will be better able to survive. My children show mild signs and we have decided not to diagnose them unless these signs and symptoms are more persistent.

Well, that's it in a nutshell. I'll be posting less frequently now but will still use this blog to post anything interesting or newsworthy about my progress.

Spring Is Here!

With the warmer weather I have been feeling much less pain. Tree has suggested that it might be the warmth, but today's storm front did not lower the temperature much (still near 50 C) and my joints are now sore. I cannot tell about the muscle groups since I was feeling better with the spring weather and went out and worked in the gardens; so my muscles were sore before the rain began.

I am starting to wonder if some of the joint discomfort/pain might be arthritis. Osteoarthritis is common with EDS, but I am still considered quite young for it to develop. Mom developed it in her early 40s, so it might not be too far fetched. I'll have to remember to ask at my next appointment.

Good News, Not-So-Good News, and Strange

I'll start with the Good News: my type of EDS is NOT Vascular, at least we are 99% certain. The genetic tests are negative. The echo last week shows a normal heart (yea!). That leaves us with Hypermobile. When you score a 9/9 on a test where a 5/9 shows hypermobility, well, not too many questions left there . . .

The Not-So-Good News: I have been really sore and tired with the weather systems this past week. The annoying but somewhat weak storm on Wednesday/Thursday just made me tired. The Nor' Easter on it's way in for tomorrow is exhausting. My legs, feet, and hands hurt. My neck, shoulders, and hips keep popping. Luckily my arms are not statically throbbing, but if you poke me in the bicep I'll either cry or hit my head on the ceiling from the physical shock of pain.

We also know that one of the kids most likely has EDS (though we suspect both do). Nuala had her well-child visit yesterday and my nurse practitioner agreed to check some areas that are not normal for a pre-schooler. Her feet are flattening and she has a mild spinal curvature - both of which are indicators of EDS Hypermobile in young children (who, by nature, are flexible and difficult to test for hypermobility). She'll be meeting my chiropractor next week.

The Strange: Questions that have been brought up by the testing results. How could one sister have had Vascular and the other Hypermobile since the types run true in a family? Do my parents each have EDS? Are my parents related? (the answer to this is No, at least not within the past 300 years)

I now know that my mother and surviving sister do have heart conditions (which might indicate Vascular) but this has not been pursued with EDS in mind. My maternal grandfather also had the same problem as my mother. My father is not unusually flexible, considering other family members, though his brothers and sister are. My paternal grandfather also has had joint and heart problems, as well as being flexible, but has not been overly forward with sharing this information. If Hypermobile has a prevalence of 1 in 5,000 to 1 in 10,000 people, and Vascular is 1 in 50,000 to 1 in 100,000 (according to the EDNF), then what is the chance of two unrelated partners having one of each? I'm too tired to figure this one out.

Not much to do now but get that physical therapy appointment, watch my children, and wait for my next genetic's appointment. Perhaps I'd better get my eyes checked as well.

First Appointment

Today's appointment went as expected. I have Ehlers-Danlos Syndrome, most likely the hypermobility type. This is unusual since my sister presented with so many of the symptoms of the vascular type. Consequently, I also approved the tests to check my collagen. There is no test (yet) that is associated with the hypermobility type, but some are available for the others. Hopefully my insurance company decides to cover this, which is likely since it is being used as a diagnostic test. If insurance does not pick up the bill I am looking at $2,000 to $3,000 in medical costs. A risk we are willing to take.

I also am being scheduled for follow-up appointments. One for an echocardiogram to see if there are problems with the valves in my heart. One with a physical therapist to start me with exercise routines that will strengthen and support my deteriorating joints. And, of course, a follow up to look at the results of the tests and echocardiogram.

And on to the next level . . .

Preparing for Tomorrow

My much anticipated appointment is tomorrow. I spoke with another genetic counselor, Jillian, a few days ago. She has me gathering additional information to add to the medical records they already have and also prepared me for some of what will happen at the appointment.

I filled out a sheet of family information so I had all that with me. This required time on the phone with my parents to answer questions about them and my grandparents that I did not previously know.

I have collected photographs. Primarily these are of my sister so they have visuals of the prominent facial features that help identify the vascular type of EDS. I also have several of my other sister and myself, plus my children and my sister's. I am thinking about bringing one of my parents as well, just in case.

At the appointment I know I will go through a flexibility test. Jillian also mentioned skin features that will be examined, such as stretchiness and how my skin forms scars. She also mentioned that since I have never had an echocardiogram that I may need to have one scheduled; this is to check for mitral valve prolapse which I have discovered is also a common problem with EDS.

More soon . . .

Anatomy of a Fall

This fall was nothing unusual, even typical for me. What is different is I am now hyper-aware of how my body responds to everything.

I was trying to get one of our cats into the carrier for a vet visit on Thursday afternoon. Not only did she escape but I instinctually spun around to catch her. My left foot never moved even though the rest of me did. It was as if my ankle was a ball and socket joint! When I put my right foot down my left ankle, followed by the left knee, gave out and down I went. I couldn't stand back up until I popped my ankle. What was interesting is that my joints (hips, knees, ankles, and areas of my feet and toes) hurt but not as much as the muscles. My back did not even bother me much, and all discomfort was gone after a good night's sleep. My legs took longer; only easing up the throbbing in the muscles and soreness in the joints as of yesterday evening.

I need to find a way to deal with the discomfort I am having other than being stoic. I've given up on acetaminophen. Since two extra strength capsules make me light-headed I am leery of taking more, but those two do nothing for the muscle or joint discomfort. Warmth helps, but not completely and not when there is a major atmospheric weather change. Cold doesn't help at all and sometimes makes it worse. Alcohol makes me forget I hurt, but I can still tell the discomfort is there. Chiropractic helps with my spine, but unrealistic for everyday unless I convince Tree to become a chiropractor. Aspirin and ibuprofen both have dangerous results for me or I would try those. I am on the lookout for more ideas to try since it is not like this is actually painful and I don't want to take chances with pharmaceuticals.

Sore and Tired

It has been a couple of weeks of exhaustion. I have been trying to analyze just what is going on. This is what I am currently observing:

For the past few years I become REALLY tired in the winter, especially when it is very cold or we have significant weather events (like the 12+ inches of snow yesterday). A walk to a neighbor's house can mean a nap or serious lethargy for the rest of the day and my legs will be sore for at least a day or two after. My arms do the same; not as problematic after a walk but can be so if I do something simple like hold a vent in place while Tree fastens it to the wall.

My joints also go *nuts*. Standing in place is almost impossible to achieve since almost every joint involved, from my spine to my hips to my feet, feel like they are slipping back and forth. Consequently, I look like a waving flag (or a drunk - I'll leave the image to you :-) ). Sitting down means sore hips and not only the challenge of standing back up but also not knowing which way to sway to get a wayward joint to slip back where it belongs.

As an example, while typing this post I have had to stop several times to pop my joints. I know, Mom, it is a bad habit, but useful because it makes the discomfort go away and in some cases is necessary to regain the use of that joint (or the attached limb). My hands (not finger knuckles, but the back of the hand), neck, spine, left hip, and right shoulder are frequent annoyances while typing and rarely even need gentle pressure from anything but normal movement. The worst are my elbows; I don't have to do anything but move them let out a loud, satisfying *pop*.

I wonder if my muscles are overworking in the winter to keep my joints from dislocating, thus causing the soreness and exhaustion. I do feel like I have run a few miles or played a strenuous soccer match this past week. I am eagerly awaiting my first face-to-face meeting with geneticists so I can run some of my concerns and observations past them.

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.