Tag Archives: genetic

Doctors, Doctors, and More Doctors

Day by Day with a Movement Disorder Posted on by 3

I’ve all but lost track of how many doctor’s appointments I’ve had since I last wrote. I’ve been to my Gynecologist twice, a Urologist, my Podiatrist, three Neurologists – one of those at the Muscular Dystrophy Clinic, as well as my own Dermatologist twice and a Dermatology Surgeon.

The upshot of all those visits is that the Neurologists can’t tell me any more than the UAB Neuromuscular specialist told us after the muscle biopsy results came back – there’s no treatment and no cure. I can’t even get any advice from them on beneficial supplements or my nutrition. So we have basically fired the UAB Neurologist and the MDA Neurologist and don’t intend to return to them. I will continue to see my own Neurologist regularly, however, as I need to touch base with someone from time to time for prescription refills and to have someone I can get an appointment with when needed.

I’ve been having urinary difficulties ever since my muscles started weakening, so I finally decided it was time to try to get help. My Gynecologist referred me to a very nice Urologist, and I have confidence that he will find a way to help me deal with these problems.

I’m spending hours a day doing my own research on vitamins, minerals, and herbs that might help maximize my cellular energy production and minimize oxidative stress at the cellular level. It’s a good thing I have a chemistry background. I never thought I’d have a use for that Biochemistry course I took almost 50 years ago! LOL! Not that I actually remember any of what I learned back then, but it has made reading all these online papers a little easier.

I’ve found several excellent books that I’ve read from cover to cover more than once, making notes about combinations of nutrients that work synergistically to improve energy production in the cells and decrease the level of gene mutation. And I’ve also wasted my time on a few books that turned out to be selling some proprietary program, rather than really trying to educate.

Thanks to my research, I’ve been gradually adding a variety of megadose vitamins, enzymes, and minerals, as well as continuing to use the herbal formulations. And all these capsules, powders, and tablets are showing a positive result. I continue to do my physical therapy, but I seem to have plateaued as far as how much I’m able to do at one time. The muscle fatigue takes over pretty quickly. But I definitely feel stronger walking in public than I did a few months ago. And my neck and back pain are more under control than they were. I was able to find a back support that stabilizes my neck and head, so I can manage sitting in a church pew a little easier, and the Neurontin and Robaxin help with the pain, too.

Mitochondrial diseases are caused by mutations of the DNA in the mitochondia, so it didn’t come as a complete shock that my Dermatologist found a squamous cell carcinoma on my face. I had Mohs surgery the next week, and it seems to be healing very well. I had to return to the Dermatologist last week, however, when a patch of skin very close to the scar became painful. The biopsy showed that spot was precancerous, so that area had to be frozen.

Next week I see my Opthamologist for my yearly exam. The retina, particularly the macula, is extremely susceptible to oxidative stress, so it’s very important that I do all I can to keep my eyes as healthy as possible.

My Diabetes continues to be under good control with diet, but I have been gradually gaining weight for the last few months – something I’m not happy about at all. I know some of it is water weight, because that’s a known side effect of some of the nutrients I’m on – but it’s not all water weight by any means. I think some of these supplements have increased my appetite, and my will power isn’t holding up too well to the urges. That’s definitely an area I need to work on right now.

I’m very thankful that I have been able to improve as much as I have in the last few months. I know a whole lot more about the process of cellular nutrition and ways to slow the genetic mutations. My hubby and I have faith that God will give us the wisdom to make good choices for supplements, exercise, and nutrition, and that He will guide the decisions my doctors make.

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.

 

Mitoland – A Guide for Mitochondrial Patients and Parents

Day by Day with a Movement Disorder Posted on by 6

I’ve been reading everything I can get my hands on about Mitochondrial Myopathy, and I’ve added several links to resources in the right sidebar. But the best lay explanation of what’s going on in Mitochondrial Diseases is a pdf from Cleveland Clinic called Mitoland.

I have the kind of Mitochondrial Disease that is caused by defects in the mtDNA, so it is 100% inherited from my mother. ALL mtDNA is inherited only from the mother. I’m an only child, but Mama would have inherited it from her mother, my grandmother. My mother was diagnosed with Parkinson’s at one point and was diagnosed with Alzheimer’s in later years. One of her brothers died of ALS, and her other brother died fairly young of a heart attack. Her mother, my great grandmother, died of cancer. I can’t help but wonder if all these family members on my mother’s side actually were exhibiting various manifestations of Mitochondrial Disease, as MITO is associated with all these diseases.

I’m sad to say that means I’ve passed some number of those defective mtDNA to our daughter, who has passed some number of them on to her three children. As I understand it, there’s no way to know how much of the defective mtDNA has been passed along from one generation to the next, as that depends on the mtDNA makeup of the particular egg cell that was fertilized at the moment of conception.

I Have Mitochondrial Myopathy

Day by Day with a Movement Disorder Posted on by 2

Diagnosis!

I finally got the results of the muscle biopsy I had back on Dec. 8, 2011! 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.

The muscle biopsy site is now healed, with a good size cavity in my upper arm. I had no idea he would take such a large section of muscle tissue out. But this test is the only way to know for sure if I had MITO or not. It’s a good thing I don’t wear sleeveless outfits, as it’s really quite ugly.

Mitochondrial Myopathy

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. 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. Now I have accumulated a significant number of muscular tissue cells with defective Mitochondria. So 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. We are extremely thankful for that. 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.

No Treatment?

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. That’s 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. We consciously eat high quality proteins and limited complex carbohydrates. These are all recommended for Diabetics and people with neurological disorders.

Mitochondrial Myopathy Plan of Action

When I see my own Neurologist next time I’ll probably ask for a prescription for Physical Therapy again. 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 I 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 we can deal with my Mitochondrial Myopathy 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.

Amniotic Fluid – Source of Stem Cells?!?

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The breaking news that scientists have been able to isolate stem cells in amniotic fluid and placental tissue is quite exciting! Not only have they recovered these cells, but they have already been successful in the lab in growing them into various tissues. The research will have to continue for some years, more than likely, so it’s not as though PWP (people with Parkinson’s) are going to be able to order up a cure any time soon.

This whole stem cell research area has been an issue I have always had very mixed feelings about. I’ve never been able to feel comfortable with the embryonic stem cell approach that many have endorsed, because in my estimation of it, this type of research would eventually lead to intentional creation of human embryos just for this purpose. I consider that immoral.

Amniotic fluid and placental tissue, on the other hand, have no such possible misuse concerns that I can imagine. I also understand from what I have read that the embryonic stem cells tend to cause tumors when implanted, whereas the amniotic and placental tissue cells so far have not been found to have that flaw.

Right now scientists are working with only 21 embryonic stem cell groups. With amniotic fluid as the source, scientists would have hundreds or even thousands of genetic strains of stem cells that could be matched, according to today’s news, with 99% of the population of the US.

Just think of the implications for those with spinal cord injuries, Parkinson’s Disease, Alzheimer’s Disease, and many other neurological disorders!!

Yes, I have Parkinson’s Disease, but it looks like I may be one of the fortunate ones who will live to see the day that doctors can cure this terrible disease, instead of just trying to alleviate symptoms. Thanks be to God for this unspeakable gift!!

Uncle Bill

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I need to remember to tell Dr. S about Uncle Bill, Mama’s brother, because he died of Lou Gehrig’s Disease. I know that’s not what I have, but he still needs to know it. Mama was originally diagnosed with Parkinson’s, which I did tell him, but that was later changed to Alzheimer’s Disease. Trouble is, she never did have the tremors. Now that I’ve seen what a real Neurologist does in the way of diagnostic testing, I don’t think that first diagnosis of Parkinson’s was even valid for Mama. It may well be that I have the same thing she had. That remains to be seen, but it just may be that this is genetic.