JUAN DIEGO A PATIENT WITH PKAN2

My son, has PKAN2 disease, and suffers from generalized dystonia. he is treated with a baclofen pump and other medicines and besides those treatments he is still with dystonia now in the lower jaw. I want to keep him from suffering.

Written by berthamarlensiabatocely, published 7 months ago.

JUAN DIEGO A PATIENT WITH PKAN2

I noticed that the boy had some problems when he was one year old. I took him to a neurologist and he was diagnosed with psychomotor delays. This diagnosis lasted until he was five years old. Then, even though he was with his therapies, he started with the degeneration, walking on tip toes, cramps, then I didn't walk anymore, only crawled. From crawling, he needed a wheelchair, because otherwise he fell. While being in the chair he did therapies, spoke slowly, ate well, but as the years went by he lost his ability to do what he did.

The neurologist investigated whatever syndrome came to her mind but the results were negative. Until in October 2013, an intern commented about PKAN2, because there were iron deposits in the electroencephalogram. The neurologist sent him to have a genetic study. Now with this diagnosis I’m very sad and disillusioned with the doctors because they say that there’s nothing to do and that my son is suffering strong pains in the jaw and the neck because of the dystonia and he is also biting himself because of this. I've spoken to them about toxins and they tell me that they know nothing about this. I don't know what to do. I feel helpless when faced with my son’s pain.

Written by berthamarlensiabatocely, published 7 months ago.

3 comments for «JUAN DIEGO A PATIENT WITH PKAN2»

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  • antonioguarda | published about 1 year ago | Originally written in Spanish

    I am from Portugal (Leiria). My son is 6 and a half years old, he suffers from the same disease and I have exactly the same problems. It seems he has no pain, but he has lost nearly all mobility. I wish to exchange experiences and eventually test his so he can improve his quality of life. He is being monitored at the Coimbra's Pediatric Hospital (Portugal) and the Navarra's University Clinique (Pamplona). Thell me more about your kid so you can help us.

    Notice: This text content has been translated automatically by a third-party service.

  • ENACH | published about 1 year ago | Originally written in Spanish

    Dear Bertha,

    My name is Antonio Lopez, from ENACH Asociación in Spain.
    Other than botulinum toxin (Botox), drugs used are:

    - Artane
    - Baclofen (oral or intrathecal administration)
    - Rivotril

    Dystonia can also be relieved with surgery (deep brain stimulation).

    Your neurologist should take the right decision for your son, and if you need more information I will be glad to refer you to spanish doctors that are familiar with the disease.

    Best regards,

    Notice: This text content has been translated automatically by a third-party service.

  • marques | published 19 days ago | Originally written in French

    ma fille à la maladie de PKAN elle a été diagnostiqué en 1997 à l âge de 13ans avant et après sais le combat sans fin ,difficile de voir la fin du tunnel pour avoir une lueur d Espoir.De son diagnostic,elle a commencé à prendre le traitement suivant, artane,lioresal,simenet . Tant que le traitement améliorait son contidien ,on vivait tant bien que mal ,en sachant que sa n allait pas durée.Puis son état se dégradait au fil des années passées ,sa distonie, des spasmes musculaires très douloureux,plus pouvoir marcher, difficultés à pouvoir manger, étant grabataire elle a subit une intervention qui consistait à implanter des électrodes avec stimulation cérébrale en 2001..Amelioration pendant quelques années y compris avec son traitement artane lioresal ,rivoltril, xenazine,tegretol 200LP. la depuis son état se dégrade à nouveau,en 2012 on lui a r ajouté la toxine botulique au niveau de la mâchoire,dos ,bras,jambes.Avec le combat que l on a mené on pourrait écrire un livre.J ai besoin aussi de vous, .j attends avec patience que les chercheurs trouve un traitement pour sauver nos enfants,que dieu m entende.

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