TODAY is World Rare Disease Day!
As I was recently diagnosed with Mitochondrial Myopathy, I’ve been doing a lot of personal research trying to understand a disease I had never heard of until a few months ago. We have been told by the diagnosing Neuromuscular Specialist that there is currently no cure and no real treatment available.
The main symptoms that affect my Quality of Life are extreme muscle weakness and fatigue, but I also get Myoclonic jerks, I walk with an ataxic gait, and I have digestive problems, as well as memory issues. And I have Type II Diabetes that is under control with nutrition and weight control. Diabetes is another way that Mitochondrial Disease can manifest itself. In hindsight I suspect that my symptoms probably started showing up about 30 years ago.
One in 10 Americans is affected by a rare disease – that’s over 30 million people. That’s more than the total number of people living worldwide with cancer! There are more than 7,000 diseases classified as being rare, most of which affect children. I can’t even imagine how parents must react when they are told their precious little one has a rare disease – and learn that 30% of the children diagnosed with a rare disease will die by their 5th birthday.
Most of these rare diseases are genetic in origin. There are no cures for these diseases, and only about 5% of these diseases even have a treatment. Less than half of the Rare Diseases have any kind of foundation, advocacy group, or community support group, because many of these diseases affect fewer than 100 people.
My own disease falls under the scope of the Muscular Dystrophy Association, so I do have knowledgeable people I can turn to for help. And online there is a the United Mitochondrial Disease Foundation, as well as MitoAction and several Facebook groups dealing with MITO diseases where I can go for information and support. You’ll find me on FB in the 250+ member Mito Adults group – just ask on the group to join, if it would be a good fit for you.
You can help them:
VISIT the R.A.R.E. Project site and learn more. DONATE to help with research if you can.
LIKE and share the Global Genes Project Facebook page with your FB friends and be one of the hoped for Million who show their support for families facing one of these rare diseases.
WEAR jeans today to increase awareness of the need for more research and funding for genetic diseases. Hopefully your workplace is involved in Jeans for Genes as a MitoAction fund-raising effort today. But if not, you can still donate to these causes.