BENEFITING: Mitochondria Disease Action Committee, Inc.
IV fluids multiple times a week. The make a wish foundation has already given his family a vacation to Florida. He’s 16. He can’t run or play physical sports. William is a great Christian kid who loves things an average teenager would, such as video games. He has a chronic disease which effects his whole life. He was diagnosed around six years ago with mitochondrial disease and just recently his younger sister started showing similar symptoms. What are mitochondria and mitochondrial disease?
Mitochondria are the powerhouse of the cell. Mitochondria are a jelly bean shaped organelle in the cell. The organelle is made up of two membranes, the outer one being smooth and the inner one being folded up on itself. This creates more surface area for it to carry out its job. Converting food into energy is its primary function. They break down sugars to make ATP, which is the quick energy the cell uses to carry out its function. Also the mitochondrion detoxifies harmful chemicals (Naviaux). Mitochondrial disease is caused by a malfunction in the mitochondria (Naviaux). Caused by a mutation in the DNA, the cells create a dramatically lower amount of ATP. Without the energy of the ATP cells don’t function properly and in turn the body will be impaired in some manner.
Some may ask “how do you get it?” or “If I have it will my kids have it?” Answering this question is not very simple. Since it is genetic it can be inherited. The way normal traits such as eye color are inherited is through both mother and father. Half of a person’s DNA comes from each parent but for the mitochondria it is different. All mitochondrial DNA is inherited through maternal inheritance which solely through the mother (Boles and Mason). “All mitochondrial diseases are mitochondrial disorders” (Boles and Mason). The sad thing is that if the mother has the disease all of the children will have it too (Boles and Mason). Although this is the case some may not even show signs that they have it because the count of normal versus irregular DNA is tolerable (Boles and Mason). In other cases though, this can be a very dangerous and even deadly (Boles and Mason). The older the eggs of a woman are when she gives birth the more likely the child will have the symptoms (Boles and Mason).
The symptoms of Mitochondrial disease are many and diverse. There are so many it’s not even funny. This is because almost any tissue can be effected and since each tissue has a different function the body is effected in different ways, some symptoms include: migraines, mental retardation, fainting, weakness, constipation or diaria, cardiac conduction defects (heart blocks), liver failure, visual loss, hearing loss, diabetes, failure to gain weight, unexplained vomiting, and respiratory problems (Possible Symptoms). You get the picture. Also “Think mitochondrial disease when three or more organ systems are involved” (Possible Symptoms).
Treatments for mitochondrial disease are very tricky. There are no cures (Cohen). Treatments are being administered which slow it but researchers are still searching for ways to eliminate it. One of the major road blocks is that there are so many different types of the disorder. Mutations can happen anywhere in the DNA and effect so many different things that it is hard to isolate. Doctors can treat the symptoms such as doing physical therapy and giving supplements some other suggestions are not “fasting” because the lack of food would be even less energy for their energy deprived bodies (Cohen). One thing which helps sustain a victim of the disorder is to inject fluids with special nutrients directly into their blood. Even though these treatments are good for some with mitochondrial disorder to others with mitochondrial disease they could be detrimental.
William and Caroline are not alone in this fight. Even though the case seems hopeless there are researchers right now finding ways to help these people. William’s older sister Caty Colman Winyard has been raising awareness to mitochondrial disease through one of her passions, running. You could be helping too.