Mitochondrial disease has been in the ‘spotlight’ this week as Mitochondrial Disease Awareness Week continues. I was inspired by an episode of CBC’s The Current that I heard this morning (see below), and wanted to take a moment to highlight the significant role research plays in trying to find good treatment options or a cure for mitochondrial disease.
Mitochondrial disease is very difficult to diagnose. At the moment, prevalence is considered somewhere between 1 in 4000 and 1 in 6000. Mitochondrial disorders can vary greatly in presentation, from mild to more severe symptoms, which complicates diagnosis. It is also difficult to pinpoint because the science is not yet sophisticated enough to identify the disease readily or easily. The good news is that this is changing at a rapid pace. A few short years ago, when my daughter began having significant symptoms, a muscle biopsy was performed to try and diagnose the disease. Two to three years ago this procedure was considered the ‘gold standard’ for diagnosing the disease – and in some cases still is. Now genetic testing has become much more sophisticated and many researchers are moving toward this area of investigating the disease for diagnosis. In our case, axiome genetic testing was performed using the ‘mitocarta’* which is essentially an inventory of genes with mitochondrial functions. Since KK was highly suspected to have mito, it made sense to focus diagnostic genetic testing there and to see if indeed there were any ‘funky’ genes. Once identified, the most suspicious genes were then compared to my DNA as well as my husbands, and voila – diagnosis. This took a full year to complete, but even that timeline is changing.
Mitochondrial disease is also a key area of investigation with some major and reputable diagnostic facilities. In October 2009, we took KK to the Mayo Clinic in Rochester Minnesotta. We were searching for a diagnosis for our child and had hope that a major research and clinical facility such as the famous Mayo could help us. We came away with the same information that we had from our Canadian doctors – KK had ‘probable’ mitochondrial disease, possibly a phenotype of MNGIE (a type of mitochondrial disease) but they could not prove it. However, when we left Mayo we were asked if we would allow KK’s blood and tissue samples to be part of a ‘biobank’ they were starting for mitochondrial disease. We decided we would, and now this Mitochondrial Disease BioBank at Mayo* has grown to a very significant global program.
Today on CBC Radio (I”m an avid listener), The Current had a very interesting program on IVF (in-vitro fertilization) to help prevent the occurence of mitochondrial disease in parents who have had affected children. Three person IVF is a form of mitochondrial replacement therapy. The replacement comes from inside the egg of a donor. The researchers are now looking into conducting human trials. It is controversial, but what inspires me is that this type of research is happening. Scientists are looking for a way to help families like ours – to help children like Kate live a healthy and full life.
As Mitochondrial Disease Awareness Week continues, my hope is that awareness builds among the public and interest continues to grow within the research community. I hope that one day when I am asked ‘what is wrong’ with Kate I’ll be able to say, “She had mitochondrial disease, but now she is cured.”
* Mitochondrial Disease Biobank – The Mayo Clinic http://mayoresearch.mayo.edu/mayo/research/mitochondrial-disease-biobank/
* Three Parent In-vitro Fertilization http://www.cbc.ca/thecurrent/episode/2012/09/19/three-parent-in-vitro-fertilization/