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[*For personal and privacy reasons, we have replaced
this
person’s name with the letter ‘C’]
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.
November 2004
[Please contact Deb at deb@fodsupport.org
if you would like further information.]
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