Mitochondrial Disease Awareness Week 2012

Today marks the first day of Mitochondrial Disease Awareness Week 2012.

Until a few short years ago, I was like many of you, I had no idea what mitochondrial disease was. I suppose I would have guessed it had to do with energy – and would have guessed that because of my education in human kinetics and exercise physiology. However, mitochondrial disease itself would not have registered, and I certainly didn’t know anyone who had it.

And then my daughter was born.

KK is my (soon to be) 5 year old daughter. In infancy she was struck with mitochondrial disease. We did not know it then, but in fact KK was born with a recessive genetic and extremely rare (1 of 10 known cases worldwide) form of mitochondrial disease. So rare that she was the first identified case and there is no medical literature in existance about her disease – though that is soon to change with a highly anticipated article in the medical journal Blood this fall. (Don’t worry, I’ll let you know when it comes out. There may be a post about it)  🙂

FACT: Mitochondrial Disease is very difficult to diagnose. (In KK’s case it took 4 years and that is considered typical).

FACT: Mitochondrial Disease is thought to occur in anywhere from 1 in 6000 to 1 in 4000 people. Scirentists, doctors and researchers differ on the exact number as incidence is difficult to report since diagnosis is so difficult.

Mitochondrial disease affects mainly children, but is also showing up in the adult population. Mitochondrial diseases are a group of disorders caused by dysfunctional mitochondria, the organelles that generate energy for the cell. Mitochondria are found in every cell of the human body except red blood cells.

There are many forms of mitochondrial disease – similar to the fact that there are many types of cancers. Mitochondrial disease is although thought to be the cause of other diseases such as multiple sclerosis, alzheimer’s and some forms of cancer.  In KK’s case, she was initially thought to have a phenotype of Myoneurogenic gastrointestinal encephalopathy (MNGIE). That was her ‘working diagnosis’ or best diagnosis for at least 2 years after visiting specialists in Canada and in the US. We now know she does not have MNGIE.

FACT: Symptoms of mitochondrial disease include poor growth, loss of muscle coordination, muscle weakness, visual problems, hearing problems, learning disabilities, heart disease, liver disease, kidney disease, gastrointestinal disorders, respiratory disorders, neurological problems, autonomic dysfunction, and dementia.

KK’s medical document lists the following conditions: Global developmental delay – delayed myelination on MRI – Sensorineural hearing loss (profound) – Cyclical vomiting + and hemodynamic instability with episodes of unexplained illness and pain + acute hypoglycemia – Sideroblastic anemia – Nephrocalcinosis and hypercalciurea – Chronic constipation – Immunodeficiency (Hypogammaglobulinemia) – Post-anesthesia complications – Spinal syringomyelia (syrinx) – Osteopenia – Pili Torti

Although research is ongoing, there are limited treatments and there is no cure.

There is no cure, but we can work together to get there!

I am now a member and committee chair for communications for a Canadian charity dedicated to raising awareness, providing support and supporting research for mitochondrial disease. MitoCanada is actively involved in Mitochondrial Disease Awareness Week. There are several events across Canada, including a new one this year – Light Your Porch Green – which has the simple concept of changing your porch lights to green ones for the week. Simple and hopefully effective in increasing awareness and increasing attention for this devastating disease.

Many Canadian cities (Hamilton, Calgary, Ottawa) have official proclamations declaring the 3rd week of September “Mitochondrial Disease Awareness Week”.

I also organize Team MitoCanada for Ottawa. Team MitoCanada is a charity team of incredible athletes from all levels of running, cycling, and triathlon who compete in events to raise money and awareness for mitochondrial disease. At last year’s Ottawa Race Weekend, Team MitoCanada raised $18,000 for mitochondrial disease research. This year we’ll have 200 athletes at Race Weekend and will have an even more ambitious goal. If you plan to run at Race Weekend 2012 I would love to hear from you!

If you have questions about mitochondrial disease, I am happy to answer them. There is a wealth of information on the internet, but I caution you about where you look. Reputable resources (with good links) are:

www.mitocanada.org

www.umdf.org

Light Your Porch Green this week! Shine a light on ‘mito’.

2 Comments

  1. I am 41 years old ..have been seriously ill four 4 years now. my GP and I believe I have MNGIE. could you tell me the test required to be performed for diagnosis an best place to go in canada to have this testing performed.

    Reply

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