Mitochondrial Disease - Ever heard of it?
Until 1999, I had never heard of it. That was the year the various specialists that we had been referred to with Jack began mentioning it. There was precious little known about the disease then - even most physicians and medical professionals were unaware. Because of the complexity of the disease, combined with the huge variations in symptoms and manifestations, parents and caregivers of affected children had no choice but to become quick studies and experts in the disease and how it affected our kids.
Today, thanks to the willingness of parents to become involved, the support of groups like the United Mitochondrial Disease Foundation and MitoAction, and the efforts of dedicated medical professionals and researchers, many more people have heard of it; many more previously undiagnosed kids and adults are being definitively diagnosed, and throughout the world, awareness of the disease has been heightened. There is no cure for mitochondrial disease, but we are confident that a little determination, a little coordinated effort and a lot of faith will change that.
Mitochondrial Disease - What is it?
In a nutshell, the Mitochondria are the power house of the cell - every cell in the body with the exception of red blood cells, have mitochondria. The mitochondria turn food into energy, and the energy of the cells run all the systems in the body. People with mitochondrial disease have defective mitochondria, which causes there to be a shortage in cellular energy. This means that there is not enough energy being produced in the body to run all of the systems, and all organs in turn are vulnerable to becoming compromised or failing - the brain, heart, lungs, liver, kidneys, GI tract, muscle, central nervous system - you name it. All of these are run by cellular energy and some or all can fall victim to the devastating effects of this disease. The following is from the UMDF website:
WHAT IS MITOCHONDRIAL DISEASE?
Mitochondrial diseases result when there is a defect that reduces the ability of the mitochondria to produce energy. As the mitochondria fails to produce enough energy, the cell will not function properly and if this continues, cell death will eventually follow. Organ systems will begin to fail and the life of the individual is compromised, changed or ended.
Imagine a major city with half its power plants shut down. At least, such conditions would produce a “brown out” with large sections of the city working far below optimum efficiency. Now imagine your body working with one-half of its energy-producing facilities shut down. The brain may be impaired, vision may be dim, muscles may twitch or may be too weak to allow your body to walk or write, your heart may be weakened, and you may not be able to eat and digest your food. This is precisely the situation people with mitochondrial disease find themselves.
Mitochondrial disease can affect any organ of the body and at any age. Symptoms are extremely diverse and often progressive. They include: strokes and seizures, muscle weakness, gastrointestinal disorders, swallowing difficulties, cardiac disease, liver disease, diabetes, blindness and deafness and susceptibility to infections
Mitochondrial Disease - How can I help?
* Visit www.umdf.org or www.mitoaction.org and learn about the disease and how it affects individuals and families.
* Help spread the word - Join the effort to raise awareness of this disease. Recent research has revealed that as many as 1 in 200 individuals are affected making this a disease that has been significantly underdiagnosed and much more prevalent than once thought. Research has also linked diseases such as Parkinson's, Huntington's and Alzheimer's to varying degrees of defects in the mitochondria.
* Give Blood! Many children with mitochondrial disease (as well as countless other diseases) rely on blood and blood byproducts to maintain life. As a family we have seen first hand the effects of IVIG given to both Abby and Jack - We believe that Jack having received IVIG, made from plasma, extended his life and reduced his pain incredibly and we have witnessed the phenomenal results that Abby has had with her treatments. IVIG is extremely expensive and very difficult to get approved through insurance. Many people who rely on this treatment , not only patients with mito, are being denied it because of its cost. The cost is directly affected by the supply and deman for the product, and the supply is always low. Please, take the time to donate today.
The following video was created by my dear friend Anne Juhlmann in memory of Zach and Sam Juhlmann, aka "Best Brothers." They are so loved and so missed. The video is not only informative, but an incredibly powerful testimony to the need for blood donors and how YOU can Save a Life!