Sónia Silva has three children. The two youngest Rafael, 12, and Melany, 2, have a rare genetic neuromuscular disease, Central Core Myopathy. The couple had to stop working to b...
Sónia Silva has three children. The two youngest Rafael, 12, and Melany, 2, have a rare genetic neuromuscular disease, Central Core Myopathy. The couple had to stop working to become caregivers for their two dependent children. Without state support, they call for solidarity to raise funds for rehabilitation therapies for both children, as it is the only way to fight the disease.
Married for 14 years, António and Sónia have always dreamed of having a family. The two emigrated to Germany, where they worked in the area of catering. They managed to realize the dream of being parents. The eldest son, Ruben, was born 13 years ago in Germany and has become the joy of the family. It was a perfect baby and the experience was so good that after two years they went looking for the girl.
Fate changed their lives and Sónia became pregnant with a boy again. This time, Rafael's pregnancy proved to be troubled. From the six months of gestation on, Sónia started to feel strong contractions. Against all expectations Rafael was born at 24 weeks, at 6 months. A real baby miracle.
In the first month of life, Rafael was connected to the machines in an incubator. Then the preterm was transferred to a pediatric hospital where he stayed for another five months. In addition to all the implications of a baby that is born prematurely, Rafael showed signs of lack of movement in his arms and legs. Doctors discovered that Rafael had a rare, neuromuscular genetic disease, Central Core Myopathy.
The couple and their two children returned to Portugal seven years ago. António and Sónia had to start from scratch, leaving behind: a prosperous business and a stable life in Germany. Sónia became Rafael's caregiver, while her husband opened a small restaurant. He started to be accompanied at the Maternal and Child Center of Porto, in orthopedics. The parents did everything for Rafael to have intensive physical therapy, speech therapy, in private clinics, since the state support was practically null.
A year ago, the couple had a girl, Melany, who is 1 year and 2 months old. According to German doctors, this disease genetically inherited from the mother, would not affect if it were a girl, only boys. After the girl's birth, due to her medical history, doctors performed the tests to detect the disease. At 2 months they found out that Melany had the same disease as her brother Rafael. This came to shake the family again. «Two cases in the same family means surrendering to them and never letting your arms down»
Below Rafael's link on therapies