The first thing I can tell you without a doubt is that Mitochondrial Disease is far more prevalent than you would expect. It is estimated that 1 in 5000 (possibly even 1 in 3000) people are affected by the disease. The tough part for most of us dealing with the disease is that when people hear the words Cancer, Autism, Cerebral Palsy, Muscular Dystrophy, and so forth, they immediately understand the magnitude of the disease/syndrome. When people hear Mitochondrial Disease, they have absolutely no clue the magnitude of the disease. The disease is so complex it's really a process to attempt to wrap your head around it. I wanted to write down what I know about it at this point, and what I have been told by the doctors we have seen up to this point. Before I tell you what I know, I wanted to share a poem that was written by Dr. Kendall for one of her patients. It is written on Dr. Kendall's webpage that if you enjoy the poem, to consider donating to www.umdf.org or to www.mitoaction.org .
Poem
Now that I've wiped my tears away from reading the poem, I will write what I understand about Mitochondrial Disease. The information directly below was taken from Dr. Kendall's website at http://virtualmdpractice.com .
"Mitochondrial disorders are a group of diseases that affect mitochondrial energy metabolism (OXPHOS or electron transport chain defect). The human body breaks down foodstuffs to form energy packets (ATP) to perform all of its bodily functions. ATP is made in the mitochondria, the powerhouses of the body’s cells. Disorders affecting mitochondria result in decreased energy production and impairment of energy consuming body functions. Affected individuals can show a wide range of symptoms including any combination of developmental delays, seizures, vision and hearing problems, autonomic nervous system dysfunction (apnea, temperature instability, irregular heart rate), other heart, liver, and kidney problems, muscle weakness, and growth difficulties. The presentation and prognosis of a particular mitochondrial disorder can be very variable, even among affected individuals within the same family."
There are many, many types of the disease. Some are fatal by young ages, some end fatally before adulthood is reached, and some experience "premature death." I cannot define premature death in the context of this disease; it varies greatly by individual. It seems that most of the time the diagnosis is made as an infant or in the early childhood years, however some adults have been receiving positive diagnoses as well. Until a specific diagnosis is made under the Mito umbrella, it is difficult to know the prognosis for each individual. The important thing to understand is that this disease is a neurodegenerative disease, and at some point regression of skills, abilities, and health will start going backwards. Our prayer, along with many Mito families, is that the regression will not occur at a young age, but rather will occur simultaneously with aging.
At the present time, there is no treatment or cure for the disease. There are very expensive "Mito Cocktails" that include mixtures of enzymes, supplements, and minerals. I'm not sure how much they improve the standard of living for Mito patients at this point though.
In many cases, Mito is a seemingly "invisible illness." Many children appear healthy and normal. Many cannot walk, talk, eat correctly, and so forth. There are so many varying degrees to this disease. There are several ways to attempt to discover an accurate diagnosis. There are DNA tests that can be done, however because Mitochondrial Disease can affect more than 1500 genes, the ordering Dr. must be fairly certain of the specific gene before ordering such a test. At this point, labs are only able to look at maybe 500 of these genes for a diagnosis anyways (and very few labs in the country are even capable of this), so this test is not 100% for all types. Many doctors are still utilizing the muscle biopsy as their way to diagnose the disease. Dr. Kendall, Hayden's specialist, has discovered many inconsistencies in this testing, and has found many other less invasive tests to help her diagnose. Another testing option is using a spinal tap to look at various levels. We expect this to be a part of Hayden's plan. A huge part of diagnosing the disease comes from clinical observation. This is why it is extremely important to work with a Geneticist that is very experienced in Mito Disease. This will be Dr. Kendall for us.
Confused yet??! I hope that this in some way begins to explain the disease, and how difficult it is to understand and diagnose. I posted yesterday about Hayden's size (weight and length), so today I will post her list of symptoms that I have been working on for the specialist.
- Absence seizures/staring spells - Sometimes Hayden experiences upwards of 15 a day, and other days, none
- Duplex right kidney and grade 3 and 4 vesicoureteral reflux (2 kidneys on right side [and one on the left, so yes, she has THREE kidneys] and chronic Urinary Tract Infections)
- Globally developmentally delayed
- Mild hearing loss in right ear
- Gastrointestinal issues
- Muscle weakness
- Chronic Fatigue
- Sleep problems (waking up between 5 and 10 times a night in screaming pain)
- Severe muscle cramps
- Cold/heat intolerance
- High unexplainable fevers (105+)
There may be more on the list, but that's all I can come up with right now! I would definitely urge anyone interested in further research to visit www.umdf.org for more information! I also ask anyone that usually donates money to organizations for tax benefits, Christmas gifts, etc. to consider donating to UMDF. At this point, we need to get as much funding to this organization as possible so that we can have more research dedicated to finding treatments and cures!!
Hope everyone has a fantastic weekend! Love to you all!
~Emily
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