Mitochondrial Myopathy 101

Many of you are aware that my youngest daughter suffered from a terminal disease. I have spoken a lot about her heart transplant, and developmental delays- I have never really explained what caused those issues in her little body.

Imagine a major city with half its power plants shut down. At best, such conditions would produce a “brown out” with large sections of the city working far below optimum efficiency.

Now imagine your body with one-half of its energy producing facilities shut down. The brain would be impaired, vision would be dim, muscles would twitch spastically or would be too weak to allow your body to walk or write, your heart would be weakened, and you would not be able to eat and digest your food.

For large numbers of people, especially children, this is precisely the situation in which they find themselves due to defects in the mitochondria, organelles found in every cell of the body which are responsible for the body’s energy production. Mitochondrial diseases compromise their lives and can be fatal –

Every year 1,000 to 4,000 children, from newborns up to age 10, are attacked by mitochondrial disease- yet so many people have no idea, or have never heard of this disease.

The Facts about Mitochondrial Disease.

Mitochondrial disease is incurable. One in every 2,000 babies born will develop a mitochondrial disease in their lifetime. Half will develop the disease before their 5th birthday. Mitochondrial disease is nearly as common as childhood cancer. Recent research results indicate that mitochondrial dysfunction is a large factor in degenerative disorders of aging like diabetes, heart disease, Parkinsons and Alzheimers There is little federal or state funding to support mitochondrial disease. New testing methods developed during the past ten years have advanced the diagnosis of some mitochondrial diseases. Many mitochondrial disease patients go undiagnosed and, as a result, these patients and their families suffer. It is precisely this combination of newness and diagnostic difficulty that works against recognition of mitochondrial disease and the finding of an effective cure. The consequences of this genetic disorder can be devastating to those afflicted and their families. –

Currently, there are no known cures. The treatments that are available are limited, and only slow the progression of the disease in a small percentage of patients. Most treatments and medications address only symptoms of the mitochondrial disorder, not the disorder itself. Current supplements used for sufferers include Coenzyme Q10, carnitine, niacin, thiamine, biotin and riboflavin. Special diets can be helpful, but only with a thorough medical evaluation, best carried out in a center familiar with mitochondrial disease, can the optimal treatment regime be determined for each patient.

Emma was affected in many ways because of this disease, her heart being the most tragic. She also suffered from seizures, complex developmental delays, speech regression, neurological issues, sleep issues, kidney issues and liver issues. It also effected her growth and nutrition.

Most children with Mitochondrial disease do not live long. Her father and I have come to terms with that. I have talked alot about my struggle with her disease and subsequent death. We both knew that one day her time with us will be over and Christ will call her home. If this experience has taught us anything, we have learned to cherish every moment. The horrible thing about this disease is that you never know what to expect. I know a father who was playing soccer with his son one night, and the next morning he had passed away. It is different for every child, no 2 children have the same symptoms. There is no road map, no directions. It has been called the “hopeless disease” by many professionals. Thus my claiming “hope is necessary in all circumstances” for this blog.

I was once asked by a blogger where my identity was before my daughter. I know that the majority of my life in the past was wrapped up in her little body. I know that there were times that I spent more time with her than my older children, I know that I sometimes find myself talking more about her than my other children- I am fully aware of those things and struggle with the reality of those circumstances. Those parents who have children with terminal diagnosis will attest to the fact that we end up enveloping ourselves around them- its all we can do. I make no apologies for that- Any parent in my position would have done the same thing.

Emma never ran and played like the other kids, she never talked like the other kids her age- her father and I are okay with that. We would have loved to have a healthy “normal” child- but we are so very honored and humbled that we were chosen to be her earthly parents.

She taught us so much more than we were ever able to teach her.

She raised us. Our entire family greatly misses this spirited yet broken child.