Seven-year-old Denys overcomes the effects of a rare genetic disease. Support him and his family!
Denys Puzan was born via scheduled cesarean section. When he was discharged from the maternity hospital, he was considered completely healthy. However, during the first few months of his life, his condition worsened. At three months old, he was diagnosed with ischemic damage to the central nervous system and neuromuscular syndrome. By the age of one, Denys had been classified as a disabled child.
He could hardly move, couldn't eat by himself, and slept constantly. Doctors were pessimistic about his future ability to walk or sit independently. When he was two and a half years old, laboratory tests in the USA confirmed that he had the rare Chu-Tokita-Takenuchi-Kim syndrome, which results from a genetic mutation.
Unfortunately, there is no cure for this disease. Treatment for the syndrome involves metabolic therapy and long-term, comprehensive rehabilitation with the relevant specialists. Denys and his family have been living with this for seven years. He now has delayed psycho-speech development and a myopathic syndrome with muscle weakness throughout his body. Denys can only walk in orthoses and is unable to jump, stand on one leg, or squat.
Due to metabolic disorders and intestinal hyperpneumatosis, Denys's body cannot absorb regular food, so he must consume specially prescribed medical nutrition. Among the child's other serious diagnoses is epileptic encephalopathy in remission. Denys is a cheerful boy who loves hugs and making new friends, but he has certain communication difficulties.
Denys now requires ongoing, long-term rehabilitation. Each session of rehabilitation clearly improves his condition. However, specialists recommend avoiding gaps in the planned rehabilitation schedule to prevent losing the skills he has gained. Each course of therapy poses a significant financial burden for Denys's family. Please help Denys continue his treatment and fight the effects of his rare disease!
Full name: Denys Puzan
Date of birth: 15/05/2018
Diagnosis: Chu–Tokita–Takenouchi–Kim syndrome (Q99.8) with a congenital brain anomaly — periventricular heterotopia (Q04.8). Epileptic encephalopathy (G93.4, G40.9). Myopathic syndrome (G72.9). Strabismus (H50.9). Functional digestive disorder associated with mitochondrial dysfunction (K59.9, E88.4). Mixed receptive-expressive language disorder, grade I–II (F80.1, F80.2). Mild intellectual disability (F70).
The goal of the project is to raise UAH 30,000 to cover rehabilitation services at the International Rehabilitation & Neurophysiology Center
DETAILS FOR PROVIDING CHARITABLE ASSISTANCE:
Recipient: Charitable Foundation “Charity Exchange ”Dobrodiy" EDRPOU 39308149
IBAN UA553282090000026002000025224 at AB “PIVDENNY” MFO 328209
Payment purpose: “Charitable contribution for Denys Puzan (project No. 1860)”
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