Hi Elaine,
I'm glad that you and your sister found this discussion board! If you check the archived posts I think you will find very many descriptions by patients of the onset, progression and magnitude of their symptoms, as well as helpful advice on how to manage with various aspects of daily living and some interesting updates on research towards understanding the condition better and finding a cure.
Here is my brief history: I am from Boston, Massachusetts, USA, where I have lived for most of my life so far. I am now almost 44 years old and was diagnosed with "miyoshi myopathy" when I was 22 years old (half my life ago so far!), though in hindsight I had symptoms as early as age 16 to 18. I actually first noticed some weakness in the stomach and back muscles, but the first obvious symptoms were a weakening and flattening of my calve muscles and an inability to step on my tip toes or run with ease. By the time I was 27 I started to use a cane from time to time (to climb stairs or use public transpiration or walk up an incline, etc.). By the time I was 30-31, I had to start inventing new ways to get up from chairs and sofas (such as turning sideways and then pushing myself up backwards). I started to fall frequently by the time I was 33-34. When I was 37 I first broke my foot in a fall, and last year I broke my leg in a fall. But even now I am still walking with that same cane I picked up at age 27 in 1992, though now only with supervision and as part of my physical therapy regime. For the most part I have been using a wheelchair over the past 3 years or so. But with all that, I am happy and consider myself successful and blessed. I have a wonderful wife, we travel together (including to Korea where she is from) and, though I am working part time now, I am a partner at a large law firm. So, the disease need not interfere with a wonderful and normal life, notwithstanding the annoyance and frustration of having to periodically reinvent how you do things.
I find that light exercise (stretching and some resistance, and swimming when possible) helps some with mobility and generally makes me feel more healthy and energized, but that over exertion is detrimental. If you get a chance to read the posts I think you will see that people's opinions differ on the level of exercise that is helpful, so you really have to experiment some and monitor your own situation and how you react to things.
I have recently started adhering to a "Mediterranean Diet". If you do a Google search for that term, you will find a lot of stuff, including recipes, but basically it entails eating a lot of fruits and vegetables and whole grains, as well as foods that are rich in unsaturated fats like salmon, sardines, tuna, olive oil, flax seeds, avacado, etc. It permits milk and cheese, at moderate levels, and even on occasional and modest portion of red meat. And, it permits a glass of wine with dinner (assuming there are not other reasons to avoid alcohol, of course). I am also now taking Vitamin D supplements, as I found my level was low and have heard that this condition may be linked to low Vitamin D. Mind you I am following this diet for overall health and longevity rather than with any expectation of improvement in the muscle strength, but given the limitations on long and rigorous exercise, I think it's a good idea and I feel a bit healthier now that I'm eating healthier.
I agree with Brad, who responded to your sister that the folks at Newcastle are really good. While the diagnosis is not something to celebrate, of course, at least dysferlin deficiency is not considered a lethal condition in that there appear to be no cases, or at least no statistically significant cases, in which the heart or lungs failed because of it. Also, just having the correct diagnosis is valuable, because many people with this condition are initially misdiagnosed as having polymyocitis or some other autoimmune disorder and put on steroids, which are not helpful. The people at Newcastle know better, of course.
Have you had a mutational analysis done? If not you should contact the Jain Foundation about arranging to have one done. It is not that you have no dysferlin gene, but rather you have some kind of mutation in the genes from each chromosome that do not permit the production of a sufficient amount (or any) correctly sequenced, full length protein. There are a lot of exciting studies going on now to pursue various treatments that will trigger the production of full lenght protein, but many of the approaches are specific to a certain kind of mutation, so you should get that done and get in the Jain Foundation patient registry (in my opinion)!
Anyway, I hope some of this helps, and I do urge you to read through the many posts on the site because it's a treasure trove of hope and of useful information.
Warm regards,
Josh Thayer
Joshua M. Thayer
Edwards Angell Palmer & Dodge LLP
111 Huntington Avenue at Prudential Center
Boston, Massachusetts 02199-7613
Direct: 617 239-0518; Fax: 617 227-4420
www.eapdlaw.com
Hi, my name is Elaine. I am 35 years old and from Ireland. I am Liam's sister, who has also joined this website. I hav e had myopathy for the last 10 years and have recently being going for testing. I have had genetic testing done in Newcastle, England and the results have shown that i am missing the Dysferlin Gene. I have weakness in the legs and now arms and back. I would like to get in contact with any other suffers out there who also has this. i would like to know how limited other people are and what limbs of their's are affected.
Hope to chat soon.
Elaine.
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