Once again as my son Gregory and I sit in the doctor’s waiting room, another mother and I begin to talk. At first we discuss the subject of medical equipment and funding sources. Eventually the conversation moves to a more personal subject. Why are we both here? It is not the first time that I have heard "My daughter has something rare. No one has ever heard of it." Somehow I know instinctively that her infant daughter has a mitochrondrial myopathy just as we suspect with my son.
The mitochondria are small organelles found in the cells of the body that function as powerhouses for the cells. They take oxygen and nutrients and convert them to usable energy. Malfunctions within the mitochondria lead to a loss of the cells ability to grow and function. Organs such as the brain, muscles, heart, kidneys, and eyes, which require a lot of energy, will often be the most affected by mitochondrial disorders. Although the abnormal mitochondria occur throughout the body, the ratio of abnormal to normal mitochondria may vary within different organs. Only when the percentage of abnormal mitochondria crosses a certain threshold will the disease express itself in that organ. This leads to the varied presentations among those affected. For instance, someone with a high number of abnormal mitochondria in the optic nerve may have blindness (Leber’s Hereditary Optic Neuropathy), in the brain may have seizures (Mitochondrial Encephalomyopathy), or in the heart may have heart disease (cardiomyopathy).
When Gregory first received his diagnosis it was very important for me to speak with another family who was familiar with this disorder. Since that time I have had the opportunity, not only in waiting rooms, but at conferences, to benefit from my contact with families affected by this disorder.
This April, professionals and families traveling from all over the world met in Philadelphia, Pennsylvania for the 1997 International Conference on Mitochondrial Disease. Beyond the support and friendships forged during that brief weekend, it was a wonderful opportunity for education in this rapidly changing field. I left with a much stronger understanding of advances in the diagnosis, treatment, genetic mapping of the disease, and a view to the future hopes for research.
If you wish to find out more information, the following groups may be able to help:
Mitochondrial Disease Foundation of America Lynnie Morgan 5100-1B Clayton Road, Suite 187 Concord, California 94521 (510) 789-8798 (voice/fax) (800) 838-MDFA (toll free)
Project AKIN will assist with matching families.
National Leigh’s Disease Foundation Post Office Box 2222 Corinth, Mississippi 38834 (601) 286-2551 (voice/fax) (800) 819-2551 (toll free)
United Mitochondrial Disease Foundation Post Office Box 1151 Monroeville, Pennsylvania 15146-1151 (412) 856-1297 (voice/fax) email@example.com (email)
Registry - maintains a confidential database provided by families.
Editor’s Note: Ann is the second family I have met with a child who has a diagnosis of Mitochondrial Disease. I knew nothing about the disease and really didn’t know where to begin to find information. Ann contacted me to get assistance in helping her go to the International Conference and immediately offered a wealth of information to me to share with other families. I would be happy to pass this information along to anyone who is interested. Just drop me a line, call, or send me an email at firstname.lastname@example.org.
Several days ago the June 1997 Exceptional Parent magazine landed in my mailbox and on the cover it read:
Mitochondrial /Metabolic Disorders First in a new three-part series
After reading the articles contained in this edition, I knew this was very important information for families and professionals to learn about. The statement that hit me like a brick was: The relatively simple diagnostic rule of thumb for the primary care physician should be: ‘When a common disease has features that set it apart from the pack or involves three or more organ systems, think mitochondria.’ I encourage you to read this special three-part series of Exceptional Parent magazine to learn more. Below is an additional support and information resource for families that was listed in this article:
J.U.M.P. - Juvenile Unknown Mitochrondrial Problems Julie Hacker 2232 South Main Street, #130 Ann Arbor, Michigan 48103 (313) 327-5070 (voice) and (313) 327-9806 (fax)