| Nov. 25, 2008 |
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Hello all - quite a startling day for us. Amidst the bustle of Don being home for a week, Cody's therapies, and prep for the marathon - we got this email from his neurolgoist about the results of his muscle biopsy. The background is that Cody began having seizures at 6 months of age. Since then we've spend 3.5 years testing him for "why" he has seizures, delay, autism, low tone, etc. Every test has come back normal. When we moved to Seattle we connected with Cody's current neurologist who is a specialist in mitochondrial diseases. He ordered a muscle biopsy to be done. After 3.5 years, we finally know WHY Cody has catastrophic epilepsy and autism - here are some of the things our neuro has told us: the electron transport chain analysis indicates that Cody has a defect in complex I. So he has a mitochondrial disease. This is likely the reason that we haven’t been able to completely control his seizures. The mitochondria make the energy for all cells. There are 5 complexes within the mitochondria (but there are multiple complexes per mitochondria) that generate the energy in the form of ATP. (Named complex I – V). When one or more of these complexes are dysfunctional, the mitochondria makes less energy. When there is enough of a deficit, then the cell becomes dysfunctional and when enough cells become dysfunctional then the organ becomes dysfunctional. The most energy demanding organs in the body are the brain and muscle. So, children with mitochondrial disease have problems with the functioning of the brain and many times muscle (endurance, coordination) as well as other organs. This can mean seizures, developmental delay, behavioral problems, etc.Prognosis varies greatly. So, although the mitochondria may not function up to normal, it still can generate enough energy to keep organs semi-functional. When it is really bad, children do not live long. Most of these children die as infants. Those that are living, by definition do not have the worst form of the disorder. Children that are making small developmental steps, are even more likely to do fairly well. We went to the website www.umdf (our neuro recommended this one) and it says this about complex I defect: -----------------------------------------------
Long Name: NADH dehydrogenase (NADH-CoQ reductase) deficiency. Complex I, the first step in this chain, is the most common site for mitochondrial abnormalities, representing as much as one third of the respiratory chain deficiencies. Often presenting at birth or in early childhood, Complex I deficiency is usually a progressive neuro-degenerative disorder and is responsible for a variety of clinical symptoms, particularly in organs and tissues that require high energy levels, such as brain, heart, liver, and skeletal muscles. A number of specific mitochondrial disorders have been associated with Complex I deficiency including: Leber’s hereditary optic neuropathy (LHON), MELAS, MERRF, and Leigh Syndrome (LS). There are three major forms of Complex I deficiency: 1) Fatal infantile multisystem disorder – characterized by poor muscle tone, developmental delay, heart disease, lactic acidosis, and respiratory failure. 2) Myopathy (muscle disease) – starting in childhood or adulthood, and characterized by weakness or exercise intolerance. 3) Mitochondrial encephalomyopathy (brain and muscle disease) – beginning in childhood or adulthood and involving variable symptom combinations which may include: eye muscle paralysis, pigmentary retinopathy (retinal color changes with loss of vision), hearing loss, sensory neuropathy (nerve damage involving the sense organs), seizures, dementia, ataxia (abnormal muscle coordination), and involuntary movements. This form of Complex I deficiency may cause Leigh Syndrome and MELAS. Most cases of Complex I deficiency result from autosomal recessive inheritance (combination of defective nuclear genes from both the mother and the father). Less frequently, the disorder is maternally inherited or sporadic and the genetic defect is in the mitochondrial DNA. Treatment: As with all mitochondrial diseases, there is no cure for Complex I deficiency. A variety of treatments, which may or may not be effective, can include such metabolic therapies as: riboflavin, thiamine, biotin, co-enzyme Q10, carnitine, and the ketogenic diet. Therapies for the infantile multisystem form have been unsuccessful. The clinical course and prognosis for Complex I patients is highly variable and may depend on the specific genetic defect, age of onset, organs involved, and other factors. ---------------------------------------------- So this is all we know at this point. I have a million and one questions - and our next appt. with his neuro isn't until February! So I'm going to try to corespond with him by email for more details. For Don and I, it seems that this really isn't changing anything. I suppose what this news does - is remove the question mark regarding Cody's future and replace it with a period. Prior to this disease verification, we had no idea what was causing his problems and his future was a huge question mark. Now we know what to expect I guess - more of the same. We want to ask things like, "does this affect his life span?" "how does this defect cause seizures?" "should we even bother to continue with seizure meds?" "are Casey's children going to be suseptible to this genetic defect?" "how did this happen - is it just in his DNA?" So much we need to know. For now we rest in the fact that clearly God made him this way. God allowed it for His purposes. Course that doesn't take the pain away - it just gives us a place to go with the pain....to the One who created Cody. I will keep you posted as we learn more. With love, Shawna
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