Members

Login | Register | Member List

Syndicate

Online Poll

Site Statistics

Rachel’s battle with mitochondrial disease

Editor’s note: In an emotional ceremony, students and staff at Carolina International School honored Rachel Mira Albertson, a former student who died in December from heart complications as a result of a condition called mitochondrial disease.
Monday, family and friends gathered at the school to dedicate a butterfly garden and the school’s media center in her honor.
Beth A. Hudson is a clinical instructor in the Division of Genetics and Metabolism in the Department of Pediatrics at the University of North Carolina at Chapel Hill submitted the following information about Rachel and her battle with mitochondrial disease.

Beth A. Hudson
Special to Harrisburg Horizons
The term mitochondrial disease is quite a broad, nonspecific term because it encompasses a large number of conditions with many different etiologies and all with overlapping symptoms. 

Mitochondria are small structures inside cells that are best known for their ability to make energy for the cell. The food we eat gets converted into chemical energy in the mitochondria. That chemical energy is like fuel in a fuel tank that can be used later. 

If someone has mitochondrial disease, then we can conclude that their mitochondria are not working properly and are not able to make energy as well as someone without mitochondrial disease. That means that they could have a variety of health problems over their lifetime especially involving high energy organs. Organs that require a lot of energy are muscles, heart, brain, kidneys, liver and gut/intestines. Mitochondrial disease is very difficult to diagnose, but it is typically considered in individuals who have multiple symptoms involving multiple organ groups. 

Rachael was diagnosed with a specific condition called Leigh syndrome. The text book example of Leigh syndrome is a baby who is developing normally until they get their first illness, like an ear infection. Then the baby develops multisystem organ failure and dies within weeks of getting the ear infection. 
That is because the baby had enough fuel in his or her tank to maintain general body functions, but could not keep up with the needs of the body to fight the infection and maintain the body. Because so much energy is being used to fight the infection, not enough is available to support the body. 

Rachael’s course was obviously not as fast as the typical picture of Leigh syndrome, but her experience was equally tragic. When we first saw Rachael in genetics at UNC, she had progressive hearing loss and had some difficulty with walking and balance. Our job was to determine if there was a genetic cause of her hearing loss, but subsequent testing through imaging studies of the brain showed that she had mitochondrial disease. She was also having more muscle pain due to dystonia, a neurological condition that causes uncontrolled muscle contractions. Then at basketball camp last summer, she started having shortness of breath with exercise. She saw a cardiologist and was found to have a form of heart failure that is commonly seen in mitochondrial disease. Remember that the heart is constantly using energy so mitochondrial disease commonly involves the heart. Unfortunately, it was the problems with the heart that ultimately lead to Rachael’s death.

You may be wondering why Rachael’s experience was so different from the baby I described earlier when it’s the same condition. That gets to the root of the challenge with mitochondrial disease. Each person can have a unique set of symptoms even those with the same condition.  This variability in symptoms happens for reasons that are not fully understood. Much more research is needed to better understand these conditions. Research in mitochondrial disease is in its infancy. There is so much that we do not know about how mitochondria work. Until we can fully understand how they work, we cannot begin to unravel mitochondrial disease processes. All of this is needed before we can find effective treatments or even a cure for these conditions.  At this point, we do not have anything to offer in terms of a treatment beyond vitamin supplements which leads to a great deal of frustration on the part of patients and families. To be frank, this is an enormous frustration for clinicians as well. It is our hope that the future will bring better options for patients and families. 

Beth A. Hudson is a clinical instructor in the Division of Genetics and Metabolism in the Department of Pediatrics at the University of North Carolina at Chapel Hill