My youngest two boys have been diagnosed with clinical Shwachman-Diamond Syndrome and secondary Mitochondrial disease. In 2001, I helped found Shwachman-Diamond America and continue to be on the board of directors. I wrote an article on Shwachman-Diamond Syndrome that can be found at this link: Shwachman-Diamond Syndrome
Shwachman-Diamond Syndrome, first described in 1964, is a rare, genetic, multi-systemic disorder affecting the pancreas, bone marrow, and skeleton. The most common symptoms are pancreatic dysfunction (malabsorption), low neutrophil count and short stature. Other organs may also be involved in some Shwachman-Diamond Syndrome patients. Shwachman-Diamond Syndrome affects people differently and not all people with Shwachman-Diamond Syndrome have all of these symptoms. In Infancy, the first symptoms are loose, foul smelling, greasy stools and failure to gain weight and grow normally.
The pancreas fails to produce the enzymes essential to digest food properly. Because of the exocrine pancreatic dysfunction (malabsorption), the child does not absorb enough nutrients, most commonly the fat-soluble vitamins, to grow and develop normally. Oral enzyme replacement therapy helps these children to digest their food, but many still need to take special vitamin supplements. Improving nutritional status does not necessarily improve the growth of children with Shwachman-Diamond Syndrome.
The bone marrow, where blood cells are produced, is also affected in Shwachman-Diamond Syndrome. White blood cells, which fight infection, are most commonly affected. Neutropenia is the most common hematological abnormality in Shwachman-Diamond Syndrome, though all blood cell lines may be affected. Anemia and blood clotting problems are also common in Shwachman-Diamond Syndrome patients. Because of the bone marrow dysfunction, these children are at a greater risk of developing life-threatening infections. Shwachman-Diamond Syndrome is considered to be a bone marrow failure syndrome, because up to 30% - 40% of these children will develop leukemia or aplastic anemia.
For more information on Shwachman-Diamond Syndrome, please visit Shwachman-Diamond America
Our two youngest boys have been diagnosed with Mitchondrial Disease. Our youngest had serum testing in 2009 which showed elevated lactate and pyruvate. This along with his other muscle problems and developing swallowing difficulty (aspirating liquids into his lungs and choking), led one of their doctors to order a muscle biopsy. The biopsy results took several months to complete. They showed a Complex I & III deficiency, a Complex III deficiency, an abnormal coupling ratio and sarcoplasmic masses. While the diagnosis was devestating, it did answer all of our extra questions and alowed us to start the proper supplements. There is no cure for Mitochondrial Disease. The only treatment is a high dose mixture of vitamins and supplements known to help mitochondrial function. We've found an excellent place to order some of their supplements. Swanson Vitamins. Their Ubiquinol (most bioavailable form of CoQ10) is $5 cheaper per bottle and when they have a sale, it can be $7 cheaper per bottle! They use the same Kaneka QH that Mito specialists say is the best, too. Swanson Health Products
The boys started on part of the Mito Cocktail right after the muscle biopsy was complete, then once we had a positive diagnosis, they began the prescription protion of the Mito Cocktail. We have seen improvement since starting the cocktail, in fact, we were able to stop using thickener in Joseph's liquids. He still has some bad days-- but that is the nature of neuromuscular diseases like Mito. Every day, we pray for a cure. The United Mitochondrial Disease Foundation has helped us over the last year. Through their education and outreach programs, the UMDF has helped educate our family and, in turn, our physicians.
I helped my friend, Jenny, through the UMDF get grand rounds set up here at Wake Forest University Baptist Medical Center. The UMDF pays for Dr. Cohen to present grand rounds on Mitochondrial Disease to physicians, medical students and residents and also sets up family meetings where Mito families can participate in a question and answer session with Dr. Cohen. Grand Rounds with Dr. Cohen will be at WFUBMC on March 4, 2011 and Dr. Cohen will host a family meeting the night before, March 3. For more information, please contact me or the UMDF.
What is Mitochondrial Disease?
The following definition is from the United Mitochondrial Disease Foundation (UMDF): Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells. Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When they fail, less and less energy is generated within the cell. Cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fail, and the life of the person in whom this is happening is severely compromised. The disease primarily affects children, but adult onset is becoming more and more common.
Diseases of the mitochondria appear to cause the most damage to cells of the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems.
Depending on which cells are affected, symptoms may include loss of motor control, muscle weakness and pain, gastro-intestinal disorders and swallowing difficulties, poor growth, cardiac disease, liver disease, diabetes, respiratory complications, seizures, visual/hearing problems, lactic acidosis, developmental delays and susceptibility to infection