Love for Jack McLean
Jack's Disease... What is it?
| What is Mitochondria? Everyone has mitochondria. Every cell in the human body that contains genetic material is mitochrondiron (a single mitochondria). Mitochondrion both process oxygen and converts the food and drink we intake into energy that is necessary for cell function. The mitochondria will then produce energy to ATP (adenosine triphosphate) which is the major source of energy for cellular reactions. The process of converting food and oxygen (fuel) into energy requires hundreds of chemical reactions, and each chemical reaction must run in almost perfect order to have a continuous supply of energy. When one or more of these components in the chain of this chemical reaction does not run in the manner it should, there is an energy crisis, and the cells cannot function normally. As a result, the incompletely burned food might accumulate as poison inside the body and these poisons can do irreversible damage to the mitochondria. What is Mitochondrial Disease ? Mitochondria can be described as the body’s “building", consisting of five floors. People who suffer from Mitochondrial diseases suffer from a floor, for example, 1 or 2, etc. being out of service. On a rare occasion, a person who suffers from this disease may have two floors out of service at the same time, usually, 1 & 4. In Jack's case, his 2nd and 3rd floor are out of service. This is an extremely rare occurrence. In addition, his fat processing system in the Mitochondrion is not working properly, this compounds his situation and makes it especially difficult to treat his disease. How are mitochondrial diseases treated? At this time, there are no known cures for mitochondrial diseases. Some treatments are available that can help reduce symptoms or possible aid in the delay or progression of the disease. Jack's Disease and Diagnosis It has been a long and frustrating road getting Jack diagnosed. Jack's mother, Jessica, knew there was something wrong with Jack from birth. In his first year of life, Jack suffered from: choking issues, wandering eyes, poor muscle control and development, constant colds, bronchitis and pneumonia, poor weight gain and overall growth. He was hospitalized for an unexplained episode in which he turned blue for 30 seconds at 6 weeks. He would have long pauses between breaths at times when he would sleep at night, but no one knew why. At then end of his first year, Jack was labeled, "failure to strive" by the doctors. Jessica and Mac still had no answers. They took Jack to another doctor shortly after this first birthday. His health continued on with the same pattern, and still no answers. Jack crawled, walked and spoke later than the norm. He did not walk until he was 22 months old, and although he could speak, he was hard to understand. After being told again that Jack was fine, just a late bloomer, Jessica demanded he be referred to another doctor and evaluated. Upon evaluation, Jack was found to have: poor, extremely low muscle tone, poor self help skills, easily fatigued and suffered from extremely poor endurance, choking issues, sleeping problems and tremors. The list went on. Cognitively he was right on track, if not ahead of himself. Jack just could not get his body to do what he wanted it to do; it was very frustrating for him and his family. The doctor could not tell them exactly what was going on. It was thought he may have a case of mild Cerebral Palsy, but his neurological tests came back fine. Then the doctor suggested something else, maybe a form of Mitochondrial Disease. After months of pain, tears, frustration, several doctors, specialists, several trips to Ohio and a muscle biopsy later... a diagnosis was reached. Confirmed Mitochondrial Disease Complex 2 & 3. What Jack's Diagnosis Means Jack's life has been and will continually be severely impacted by the Mitochondrial disease. He fatigues easily, he suffers from poor endurance, he has tremors in his hands, his head, and at times, his whole body. His lack of muscle development leads to problems with drooling, speech and intense acid reflux. The disease is also linked to his respiratory problems, which include asthma and allergies. Jack suffers from constant cramping in his legs and joints. He has a very hard time walking. There are times when his little legs will look like wet spaghetti noodles when he tries to walk and worse yet, times when he cannot walk at all. Jack was also recently diagnosed with a left hip that is degenerating. It is causing his left knee to dislocate when he walks. A hip replacement is inevitable. Jack's problems fluctuate from day to day. One day may be a bad day full of every problem there is, the next may be a better day with only a few of the problems stated above. Whatever the day, there is always some obstacle, some frustration, pain or sickness that Jack must endure. Jack is very fortunate that cognitively, he is fine. His brain is developing at a normal rate of a three-year old boy and he enjoys doing most of the things a normal four-year-old boy likes to do. But the most amazing thing about Jack is, that no matter how he feels, no matter how much pain he is in or how frustrated he is, he always tries his best to function to the best of his abilities. His spirit is remarkable, his smile is enlightening. He is a trooper, and handles all of the doctors, needles and medications like a pro. Little Jack also has the most amazing sense of humor; he makes anyone who knows him ashamed to complain about his sickness. He really is a gift, and his family thanks God everyday they have him in their lives. What are the symptoms of mitochondrial diseases? Mitochondrial diseases are categorized by the organ systems they affect and the present symptoms. The varying degree of the illness can range severity from mild to fatal. Depending on which cells of the body are affected, symptoms might include: • Poor growth • Loss of muscle coordination, muscle weakness • Visual and/or hearing problems • Developmental delays, learning disabilities • Mental retardation • Heart, liver, or kidney disease • Gastrointestinal disorders, severe constipation • Respiratory disorders • Diabetes • Increased risk of infection • Neurological problems, seizures • Thyroid dysfunction • Dementia (mental disorder characterized by confusion, disorientation, and memory loss ©Copyright 1995-2007 Cleveland Clinic. All rights reserved. Mitochondrial disease is diagnosed by: • Evaluating the patient's family history • Performing a complete physical examination • Performing a neurological examination • Performing a metabolic examination that includes blood, urine, and optional cerebral spinal fluid tests • Performing other tests, depending on the patient's specific condition and needs. These tests might include: -- Magnetic resonance imaging (MRI) or scan (MRS) if neurological symptoms are present -- Retinal exam or electroretinogram if vision symptoms are present -- Electrocardiogram (EKG) or echocardiogram if heart disease symptoms are present -- Audiogram or BAEP if hearing symptoms are present -- Blood test to detect thyroid dysfunction if thyroid problems are present -- Blood test to perform genetic DNA testing More invasive tests, such as a skin or muscle biopsy, might be performed as needed and recommended by your doctor. ©Copyright 1995-2007 Cleveland Clinic. All rights reserved. |
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