Tag Archives: World Rare Disease Day

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.

 

First MITO Physical Therapy Session

Day by Day with a Movement Disorder Posted on by 2

I had my first session with the Physical Therapist today since my Mitochondrial Myopathy diagnosis. I’ve been to this same PT facility many times over the years, starting back when we took my mother when she was recovering from a broken hip. She was in the full throes of Alzheimer’s at that time, and they were super kind and gentle with her. His staff have helped me personally in the past with neck pain and difficulty walking.

So I knew if I called ahead of time and asked the director to call me and discuss my diagnosis before my first appointment – I knew he would do that. He actually called me on a Saturday! He said he had had several patients over the years whose ultimate diagnosis turned out to be Mitochondrial Myopathy, but that he would catch up on the current thinking about how to help me. He seemed confident that he could improve my neck muscle strength and alleviate the referred back pain I’ve been experiencing for some months now.

He spent the better part of 2 hours with me, asking lots of questions, and I could tell that he had truly been doing considerable research about Mito. I also shared with him some of the information I have found from MitoAction, too. His overall message to me was that he could help, but everything would have to be done very simply and slowly, with only a few minimal exercises at a time.

I’m to see him again this week on Friday, and he gave me a few extremely simple exercises to do twice a day for just a few repetitions. After spending some time with a TENS unit set up at very low volume with a large heat wrap around my neck at the same time, he then did a slow and very careful massage of my neck and back.

I asked very specifically if a reasonable ultimate goal for me would be able to sit in a regular chair and then the church pew for the 2 hours that Sunday School and church require. I currently take a muscle relaxer and pain med before going to church on Sunday, and I use the padded neck brace from the time we leave our house until we ear lunch. It’s not considered safe to try to eat while in the brace, due to possible choking, besides the fact that it’s very awkward to try to do so. I’m pretty much wiped out and in pain for the rest of the day.

Right now our church sanctuary is being renovated, and I sit in a regular chair in Sunday School, but I’m sitting in a high back upholstered chair from the vestibule during the church service we now hold in our Fellowship Hall. I explained that to him, and that I had recently had occasion to sit in another church on a padded pew, wearing the neck brace, for about an hour and a half and was in severe pain by the time we left.

He did not think I would ever be able to sit without head support through both Sunday School and church, even after PT. So that means we’re going to have to make arrangements to get a wing back upholstered chair for my Sunday School classroom. Then hopefully I’ll be able to tolerate sitting in a pew for the worship service without being in so much pain.

I had hoped he would say that in time he could rehabilitate my neck so sitting would not be such a problem, but it doesn’t look like that’s going to happen. I’m glad he expects to be able to help me some. I’m thankful for that.

If you’ve read this far, I hope you’ve followed some of the links about World RARE Disease Day on Feb. 29th and found some way to spread the word about the need for more research funds. If you can donate – thank you!!

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.