Tag Archives: UMDF

WORLD RARE DISEASE DAY is TODAY!!

Day by Day with a Movement Disorder Posted on by  

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.

So what about all the families dealing with one of these 3,000 or so Rare Diseases who have no support group at all?

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.

 

World Rare Disease Day in 30 Days!

Day by Day with a Movement Disorder Posted on by 4

Feb. 29, 2012 will be World Rare Disease Day, and I’m joining other bloggers to raise awareness about rare diseases.

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. Different sites include certain types of Mitochondrial Myopathy on their list of Rare Diseases. I don’t know if my type has been classified or not, but that’s on my list to ask about when I see my Neurologist. 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.

So what about all the families dealing with one of these 3,000 or so Rare Diseases who have no support group at all?

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 on Feb. 29th to increase awareness of the need for more research and funding for genetic diseases. Encourage your co-workers to get involved in Jeans for Genes as a MitoAction fund-raising effort on Feb. 29th.

READ some of these blogs supporting World RARE Disease Day, many sharing what life is like with a rare disease.

 

I Have Mitochondrial Myopathy

Day by Day with a Movement Disorder Posted on by 2

I finally got the results of the muscle biopsy I had back on Dec. 8th! And the Neuromuscular Specialist from UAB told us that I had a significant number of ragged red fibers in my muscle tissue, with a diagnosis of Mitochondrial Myopathy. He had suspected that, based on the level of muscle weakness I have plus my complete medical history and family history.

Mitochondrial Myopathy is classified as a Rare Disease by the National Institute of Health, affecting about 1 in 5,000 people. The Mitochondria are found in all human cells except for mature red blood cells, and they are the engines that provide energy to the cells to function properly. When they are defective in some way the cells cannot properly use the food fuel to provide that energy needed for normal cell activity. Exactly how this disease affects a person depends on which type of cells are most significantly affected by mutated Mitochondrial DNA. I was born with this disease, and the doctor says the mutations have been building up in my body my whole life until now I have a significant number of muscular tissue cells with defective Mitochondria. My symptoms have finally progressed to a point that it was possible to make an accurate diagnosis, confirmed by the muscle biopsy.

Adult onset MITO is not a life threatening disease, and for that we are extremely thankful. It certainly does affect my quality of life, however. The specialist does not think I will ever end up in a wheelchair, which is wonderful news. There is no cure and no real treatment, however. That’s the bad news.

There are some vitamins and cofactors I can try taking, but I’ll basically have to experiment on myself to see which ones, if any, will possibly give me more energy. He suggested I try Coenzyme-Q10, so I started taking it last night. Antioxidants may also be helpful. I had stopped taking all but the most essential meds and supplements early in 2011 when my liver enzymes were first elevated and the weakness became pronounced. Now that we know what I have I plan to start taking Turmeric, Vitamin E, Omega 3, and Lutein, again, as well as the CoQ10. I already eat a diet rich in green leafy vegetables, nuts, and fruits, as well as consciously eating high quality proteins and limited complex carbohydrates – all recommended for Diabetics and people with neurological disorders.

When I see my own Neurologist next time I’ll probably ask for a prescription for Physical Therapy again, so they can help me build up a safe exercise routine based on this diagnosis. In the mean time I’ll try to increase my activity level VERY gradually.

I’ve joined the United Mitochondrial Disease Foundation, MitoAction, and the Muscular Dystrophy Association, and I’m studying all the information on this disease they provide.

So I feel like I’m developing a plan of action and have hope that I will be able to slow the progression of this disease with supplements and good nutrition. I’m thankful to God for our close proximity to such a world renowned research hospital as UAB and for the specialists there. Waiting so long to get these test results has been extremely hard on both of us, but now we have an enemy with a name and can deal with it emotionally and physically.

Test Results??

Day by Day with a Movement Disorder Posted on by 6

The Neuromuscular Specialist called the other day – 2 days after I had called his office and left a message asking for an update on the test results. He was rattling off a lot of medical terms I wasn’t familiar with, and his thick accent didn’t help in understanding what he was telling us. But from what I could understand he thinks I have Mitochondrial Myopathy, which is a genetic disorder involving DNA mutations. I questioned him about that, as it would seem logical to a lay person that if it were genetic I would have had symptoms my whole life. He said symptoms often didn’t show up until a person’s 50’s or 60’s, and my first movement disorder symptoms did show up in my late 50’s. And I was what people used to call a sickly child.

From what I’ve read it’s actually called Adult Onset Mitochondrial Myopathy. I did find a very good information source online at the UMDF, United Mitochondrial Disease Foundation . Once I joined with a free membership I was able to read quite a few helpful articles.

There’s a long list of possible symptoms associated with MITO, as it’s abbreviated, depending on which organs are affected by the gene mutations. But I do recognize myself in the list. Even the Type II Diabetes is on the list, as well as the Myoclonus.

He is scheduling me for a muscle biopsy for a more conclusive diagnosis, although even then it won’t be definitive. But I’ll feel better knowing we’d tried everything we can to pin down the diagnosis and what type of MITO I might have. I handle the Devil I Know much better than an unknown enemy. There’s just something about being able to read about the disease that helps me deal with it – even if there is no real treatment for it.

There are some articles I’ve read that suggested there are some vitamins and supplements that may help to delay the progression of the mutations, but these articles caution not to take them without medical supervision, as some can actually make variations of MITO worse, rather than delay progression.

So it’s still a waiting game, as I continue to be very weak and find walking to be difficult and slow and holding up my head very tiring and painful.