Introduction

Ábris was born on July 31, 2016 at 39 weeks with a 9/10 Apgar score. He is a very cheerful and smiley baby. On March 31, 2017 he was diagnosed with SMA Type 1, which is a type of spinal muscular atrophy. Currently he is well, both physically and mentally, and latter is not going to change in the future, because the disease does not affect his mental development. He is currently living a normal and happy life, and luckily, the occurrence of the severe symptoms of the disease have not been present so far due to his strong immune system. At 5 months, I recognized he did not move as much as he had in the past. As a result I started taking him to baby swimming and baby massages. These programs brought significant results and fortunately he is still improving. Later on, I took him to a private medical center for orthopedic examination as well as the Dévény Anna Foundation for a consultation and health check. Neither of them determined anything serious nor recognized the signs and symptoms in relation to such a serious disease.

Finally, on March 24th we went to a developmental neurological examination where they identified signs referring to the disease at first sight. As a result they sent a blood sample to genetic testing. On March 27th,  Ábris was hospitalized in the department of developmental neurology of Szent Margit Hospital for a more thorough examination. By the end of the weekend, the result of the blood test had arrived which substantiated the diagnosis.

Since then, he has been living at home.