Alaturi de Andreas-Rares in lupta cu sindromul AHDS

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Andreas-Rares a fost diagnisticat la varsta de un an cu un sindrom extreme de rar numit Allan-Herndon-Dudley. Desi acest sindrom a fost desoperit cu apropae 70 de ani in urma, la momentul actual nu exista nici un tratament. Exista doar un medicament testat experimental care se crede ca ar putea imbunatati anumite aspecte ale bolii care insa nu este legal in Romania. Speranta de viata este mica, majoritatea copiilor ce sufera de acest sindrom nu vor ajunge la varsta de 5 ani, iar calitatea vietii este scazuta. La nivel mondial existau in 2016 aproximativ 320 de cazuri de AHDS.

Sindromul Allan-Herndon-Dudley(AHDS) implica intarziere mentala si motorie, hipotonia centrala, hipertonie (sparticitate) periferica, incapacitatea de a-si sustine capul, sistem imunitar extrem de scazut, densitate osoasa mica (osteoporoza infantila), crize epileptice, probleme de masticatie si deglutitie, distonie iar lista poate continua.

Andreas-Rares a participat pana la sfarsitul anului trecut la cercetarea medicala desfasurata in Bucuresti pentru medicamentul mai sus amintit, perioada in care a primit medicamentul ca parte din cercetare. Acum insa trebuie sa procuram singuri acest medicament care nu poate fi importat in Romania si este legal doar in Franta.

Pentru a intarzia, pe cat posibil, instalarea simptomelor mai severe, Andreas-Rares face patru tipuri de terapie (Bobath, Vojta, dezvoltate cognitivo-comportamentala si terapie ocupationala) de zece ori pe saptamana. Toate aceste terapii sunt extrem de costisitoare.

In plus, are nevoie de echipamente specializate care sunt foarte scumpe. De exemplu, daca un premergator pentru un copii costa 150-200 RON, un premergator pentru nevoi speciale costa cateva mii de euro. In acest moment, Rares are nevoie de un premergator, un scaun de masina special si un carucior pentru nevoi speciale.

Desi sufera de hipotonie, organismul lui este hipermetabolic. Cu alte cuvinte, organismul lui are nevoie de mult mai multe resurse (proteine, calorii) pentru a functiona chiar si la nivelul limitat la care o face. Asta implica o dieta si suplimente speciale ce se dovedesc la randul lor a fi destul de costisitoare.

Mai multe despre Andreas-Rares poti citi aici.

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Together with Andreas-Rareș in his battle against AHD syndrome

Andreas-Rares was diagnosed with an extremely rare syndrome called Allan-Herndon-Dudley at the age of one. Even though this syndrome was discovered 70 years ago, there is no treatment to this day. There is only one experimental medication which is believed to be able to improve some aspects of the disease. This medication though is not legal in Romania. Life expectancy is short, most children suffering from this disease will not reach the age of 5, and quality of life is poor. In 2016, there were 320 AHDS cases all over the world.

Allan-Herndon-Dudley syndrome (AHDS) implies mental and motor delay, central hypotonia, peripheral hypertonia (spasticity), lack of head control, very low immune system, low bone density (infantile osteoporosis), epilepsy, problems chewing and swallowing, dystonia and the list may go on.

Andreas-Rares participated up to the end of last year at the medical research that took place in Bucharest as well, for the medication that I mentioned before. During this period he received the medication as part of the research. Now we need to get this medication on our own since it cannot be imported in Romania and it’s only legal in France.

In order to delay, for as much as possible, the onset of severe symptoms, Andreas-Rares needs four kinds of therapy  (Bobath, Vojta, cognitive development and occupational therapy), ten times per week. All these therapies are extremely expensive.

Furthermore, he needs specialized equipment which is very expensive. If a walker for a child cost 40-50 Eur, a special needs walker will cost a couple of thousands of euro.  At this moment, Rares needs a walker, a special car seat and a special needs carriage.

Even though he suffers from hypotonia, his body is hyper metabolic. In other word, his body needs far more resources (proteins and calories) just to function even at the limited level that is does. This requires a special diet with particular food supplements which, in their turn, prove quite expensive.

Read more about Andreas-Rares here.

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[ENG BELOW] In fiecare zi ne scriem povestea de viata cu speranta ca zbaterile noastre vor conta, la un moment dat. Ca vom reusi, cu putin noroc, ca

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