Please think of Scott the next time the Republicans try to repeal the ACA. This year, Republicans in Congress have attempted several times to kill the Affordable Care Act, a health care bill enacted in 2010. The ACA was a huge improvement over health care coverage previously available in the U.S. It reduced the power […]
Scott received a new clinical diagnosis of a mitochondrial disorder in August of 2016 and was prescribed a mito cocktail to prevent any further deterioration and possibly improve some the neuromuscular symptoms he’s been experiencing. So, how’s that been going? The excellent news is that he has noted some improvement! See the entry on the […]
We met with a metabolic doctor in August who thinks Scott’s symptoms could be caused by a mitochondrial disorder. This was not a complete surprise to us, but definitely good news since we weren’t getting anywhere with the BVVL diagnosis. The doctor based his opinion on an extremely sophisticated analysis of Scott’s acylcarnitine profile and […]
We are waiting for the results of genetic testing to confirm Scott’s neurologist’s clinical diagnosis of BVVL. Read about that and the latest on Scott’s medical condition, including a hearing re-check and speech therapy here. In other news, a woman who has started a BVVL private discussion group on Facebook found us through this site. […]
We received a clinical diagnosis for Scott’s condition this month from his neurologist at Children’s Hospital in Pittsburgh. “Clinical” means the diagnosis is based on observable symptoms rather than finding a genetic mutation. She believes he has a motor neuron disease called BVVL (Brown-Vialetto-Van Laere), which is extremely rare. See a more complete description of the discovery […]
It seems we are no closer to a diagnosis, despite many doctors’ appointments and tests. Scott has tested negative on virtually all the tests that have been done on him to date. His doctors have backed away from ALS, fortunately, although that remains a possibility. See the December 2010 entry on the Medical Details page […]
Scott’s health deteriorated in the fall of 2008 at the age of 13. It was not obvious, and, typical of a teenager, Scott hid most of it from us. Around Christmas of 2008, it became too noticeable for us to ignore. It was especially frightening in January through March of this year, when we could […]