Congenital Hypoplastic Anaemia And Cerebellar Ataxia Posted: 11-29-06 09:27am
Hello, my name is gianrocco g. I was born
in july in 1984. I live in a small town
in basilicata (south of italy) its name is
rotonda. I have two serious and rare
pathologies: the cerebellar ataxia and the
hypoplastic congenital anaemia. This is
my anamnesis:
1. Blood relation of my parents (they are
second-cousins);
2. At 7 it was diagnosed the hypoplastic
congenital anaemia, it has been classified
as primitive hypoplasia belonging to the
erythrocytic kind “blackfan-diamond”;
3. After few weeks from my discharge from
the hospital I had a bacterial meningitis
(hypacusia left dx < sin);
4. Two examinations of the medullar smear
have relieved a lack of maturation of the
erythropoietic cells with few giant
proerythroblasts;
5. Until 2002 only a light secondary
emocromatosys and a lack of epathomegaly;
6. When I was 10 my parents realized that
while walking I stumbled, and I had
problems of balance;
7. Between 17-18 the symptopathology got
worse so I fall down frequently;
8. In the latest 4 years the problems of
deambulation and balance have appeared. I
have, besides, shown problems of
concentration, of memory and of the
speaking (difficulty in expressing and
organizing thoughts and contents);
9. I have had problems of micturition and
incontinence for some time.
At the beginning, the anaemia has been
treated with corticosteroids (without any
result, with emotransfusions and chelating
agents (desferal and ferriprox) until
1991; in 1993 with immunoglobulin i.V. At
high dosage.
In september 2004 I was admitted to the
neurology hospital in bari and I underwent
to neuropsychological, hemathological,
endocrinological examinations. I was
subjected to muscular biopsy, to a dosage
of the activity of the enzymes of the
respiratory chain, to the total
mithocondrial dna analysis through
southern blot to a orl neurophtalmological
visit, to spectroscopy that showed an
increasing of the peak of the choline of
the white substance of the cerebral
hemispheries, and also the invasion of the
relationship choline compatible with
verisimilar hypomedullation. From
12/09/05 to 23/09/05 I was admitted to the
neurological biochemistry and genetics
institute “g. Besta”, in milano, that
has confirmed my pathologies: the
cerebellar ataxia and the hypoplastic
anaemia. In september 2006 this institute
called me again for a check up and it was
noticed a worsening of the neurologic
trouble connected to the cerebellar ataxia
and unfortunately no any origin of my
illness has been found. Up to now, it is
not possible to express any etiological
diagnosis that comprehend both the
neurologic and the hemathologic pathology.
The medicines used, even if they are a
lot and given in high dosage are not
efficacious anymore. I know that they are
rare illnesses and the research in such a
case does not invest a lot, that’s why I
trust in internet and in the good luck so
that my appeal could reach researches or
whoever is living my own experience. In
short I hope that someone can help me in
improving my health conditions as here in
italy (even if I have been in contact with
the most specialized hospitals) the
results have not been positive. I need to
stop the degenerative process of my
pathologies and at least to improve my
motor-functions in order to become to live
in autonomy. Is there anyone in the world
that can help me in regaining possession
of my life so as all the young people of
my same age do? As the italian medicine
has done a little for me and I do not hope
it can do something more in the future I
can just ask internet and the
international research hoping that someone
can take into consideration my need of
help addressing myself towards efficacious
cures.
Looking forward an answer I greet everyone
with affection and love.
