From Special needs to Wellness

FROM SPECIAL NEEDS TO WELLNESS Hello everyone. This is Danica my niece a child with a rare disease. She is now 4 years old smart girl and this is her story. She was born as a healthy baby and when she was 30 days old unfortunately, she got seizures. She was hospitalized and suspected for epilepsy. Although it’s wasn’t epilepsy she was treated with anticonvulsant because the doctors didn’t know the right diagnose. At that time a genetic material was sent abroad, and the tests came back positive for a rare genetic disorder called homocystinuria. Homocystinuria is a devastating rare genetic disorder which attacks the eyes, bones, cardiovascular system, and in worst case causes thromboembolism. There is no cure for it but with the right treatment the person can have a normal life. It’s treated with life long low protein food and special amino acid formula. Another big problem is that she is the first case of homocystinuria in Macedonia (the country where my family lives) and the physicians don’t have experience in treatment of this disorder. It also causes development delays which is the case with my niece. Beside the disorder the developmental delay is a consequence from the lack of oxygen in her brain from the seizures which has cause a damage to her brain according to physicians only 37% of her brain is in function.  She started walking late, she doesn’t speak yet, she still wears diapers and she is almost 2 years lag from her peers. She has a big progress since she started working with speech pathologist and since my sister works with her at home by a program called the Doman method. And here is where I need your help. As I said before the disorder is treated with special low protein diet and formula which are very expensive and to be worst are not available in my country so my sister and brother in law must buy them from other countries and have to pay an extra money for transport and customs for the food.(And it’s a life long need of this kind of food). As I mentioned above, she is monitored from a doctor abroad and that is another extra charge for my family. Also the program from the Doman method is very expensive and they must upgrade it every 6 months because that’s how the program works and because  she get better every day and needs a new ways of brain stimulation. They give huge amount of money every 6 months for the next levels of the program. So, I hope you can help me to raise funds for my niece and help my sister and brother in law to provide her a normal life as much as they can. Your humanity is our only hope at this moment. ________________________________________________________________________________________________________________________________________________________________________ Zdravo, ova e prikaznata za Danica. 4 godishno devojce koe strada od retka bolest homocistinurija. Toa e navistina retka bolest, ne bash poznata vo Makedonija, pa zatoa doktorite I nemaat soodvetna terapija I nachin na tretiranje na istata bolest. Bolesta ne se teknuva, magjutoa se tretira so zivotna nisko proteinska ishrana, voedno ishrana koja ne sodrzi homocistin I metionin, koja za zal e nedostapna vo Makedonija a voedno mnogu skapa da se nabavi odbeshe stranstvo. Isto taka bolesta gi naogja ochite, kardiovaskularniot sistem, zabavuvanje na psiho-fizicki razvoj, zgolemeni organi, I izdolzeni ekstremiteti. Dani beshe rodena bez nikakvi somnevanja od doktorite deka e kompletno zdravo bebe, no posle 30ina dena pocnaa da dobiva napadi, kako grchevi na celoto telo, nekogash I po 10pati na den. Doktorite ni rekoa deka deteto ima epilepsija I pochnavme so terapija za epilepsija, no grchevite ne prestanuvaa. Grchevite predizvikaa elektrichno troshenje na mozochnite kelii, a so toa I nedovolno kislorod shto rezultirashe so izumiranje na mozochni nevroni od dvete hemisferi. Beshe napraveno ispituvanje nadvor od Makedonija, kade shto doktorite ustanovija deka stanuva zbor za Homocistinurija a ne epilepsija. No za zal vekje beshe docna, vo megjuvreme 63% od mozochnite nevroni bea unishteni. Dani sega ima 4 godini, izgleda mnogu pogolema od svoite vrsnici megjutoa so motorikata I psihata zaostanuva okolu 2 godini so normalen razvoj, isto taka proodi podocna, seushte ne zboruva nishto, I koristi peleni. Momentalno belezi mal napredok blagodarenie na programata na Domen. Megjutoa programata se nadograduva na sekoi 6 meseci zavisno od toa kolku deteto napreduva, a sekoe nadograduvanje chini mnogu pari za standardot vo Makedonija. Zatoa sega na Dani I treba nashata pomosh, da bideme humani, da donirame I da spodelime za Dani da moze da Dobie soodveten tretman I da moze da napreduva I da ima shto po normalen zivot. Ve molam site koi ste vo moznost da donirate, kliknete na linkot podolu, sekoj denar e biten. Voedno spodelete so onie koi gi znaete.