Cerebellar Ataxia and congenital hypoplastic Anaemia

[Guest guest]

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.

 

GIANROCCO G.