C was born in 1977 in France, the second of three children (none of the others being carrier nor ill). He was born on term but was hypotrophic, with 2.14 kg weight, 46 cm length, and with a clear intolerance to hypoglycemia, becoming hypotonic when not fed very regularly.
Everything else was normal until the age of 2, when he was hospitalized for the first time, for general seizures, coma and deep hypoglycemia. The examination of his eyes then showed retina pigmentation and his sight started to be monitored regularly. At the age of 3, he was hospitalized for congestive heart insufficiency, and the cardiac treatment was started at that time. He still has this insufficiency.
In 1982, he was 5-years-old and had another hospitalisation for hypotonia with numerous biologic abnormalities. A metabolic disorder was then suspected and L-carnitine was added to a strict low fat diet. The family was told there was not much else to do, as the only known rare cases in this type of disease had died before age 2.
As a kid, C was living and developing quite normally: an easy child, sensitive, reflective, and never complaining. In terms of constraints, he was only avoiding fat in his food and prolonged physical activity, the latter he would limit by himself according to the onset of muscular pain. His sight was lowering, he wore glasses, but he would adapt to it and has always been very brilliant in school.
Between the ages of 5 and 17, he mostly suffered from rhabdomyolysis a couple of times per year (but was hospitalised only twice for this during this period), and once from severe heart failure, requiring intensive care for 10 days. After this last episode, he recovered, and then for the first time of his life started having real and various social activities, going out with friends, dancing, travelling…1994 was also the year of his precise LCHAD diagnosis, but as of 2004 we still do not have the molecular diagnosis.
His sight has decreased progressively from age of 5 to 17, and he has adjusted to this 90% loss by using a computer for writing, a scanner for reading, with an electronic voice system coupled to his computer. He was the one helping friends in school, having a great memory and perfectly accurate typed notes from each class. The retinopathy and vision loss have been stable since 1994. C cannot drive a car nor play sports, but he lives by himself (with his cat!) and manages fine for everyday life, keeping an intense social life. Bread and Coca-Cola are the 2 products he uses most everyday, to avoid hypoglycemia and to complete his diet when hungry. He is over 6 feet tall and about 180 lbs.
Retinopathy, muscle pain, and cardiac insufficiency are the main impairments of his quality of life; all have been stable for a few years now, thanks to a strict diet, cardiac medications, L-carnitine and Triheptanoin oil. Neuropathy has been diagnosed, too, but is non-symptomatic.
On a more personal basis, C has performed 3 years of College, then 4 of University in Paris, and works as Training Director in the Human Resources Department of a major international company. The latest medication he has started is Triheptanoin oil, however, due to a bad digestive tolerance, he has been working halftime since. His main interests are politics, culture, and socializing. C will turn 28 early in 2005, and has plenty of projects for the future.
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