A family waits for a medicine
How Brazilian colleague’s little daughter could benefit from Roche research in rare diseases
February 29 is Rare Disease Day. It is a day of hope for Fernanda Silva, a Roche colleague in Brazil, and her husband Acerlan Souza. Their daughter Beatriz is seven. She is a little bundle of joy and is extremely playful. But she has a problem, a rare one. It is an ailment that has a huge impact not just on her health but on the daily life of her parents as well. Five years ago, she was diagnosed with Spinal Muscular Atrophy (SMA).
Classified as a rare disease (or orphan disease), it is one of the diseases for which Roche is currently conducting clinical trials. SMA is a life-limiting and highly disabling genetic disease characterized by progressive muscle weakness and loss of motor function. The disease affects the motor neurons of the voluntary muscles used for activities such as crawling, walking, head and neck control and swallowing and breathing. It typically presents in early childhood and usually is seen in one of 6,000 to one of 10,000 children. It is estimated that up to 20 million potential parents in the US and EU are carriers and most of them are unaware of this.
Beatriz was just two and a half years old when Fernanda had to take her to a local hospital. They were referred to a pediatric neurologist who initially thought she had muscular dystrophy. However, tests showed that she had SMA. Her doctor diagnosed it as type 2 (see sidebar) but on going to a specialist hospital, Beatriz was finally diagnosed by a DNA test with type 3 SMA, a milder form of the condition.
Happy and sad
Says Fernanda: “Beatriz goes to regular school in the morning. She is in grade two and enjoys it a lot and has many friends.” But the illness has begun to take its toll and she walks with a noticeable limp. She cannot run or stand up on her own and falls frequently. “She is a happy child but on some days she becomes sad and asks us about her problems. She comes back sad from school because her friends didn’t play with her. She is unable to run and jump around as much as the other children. We always talk openly with Beatriz and try to explain things to her.” Since last year she has started psychotherapy sessions.
But Beatriz is a tough cookie. She bounces back soon. And quite literally! Her parents have put up a special trampoline for her to play. She goes to the pool and goes to physiotherapy five times a week.
Fernanda has been a Roche employee since 2005. A pharmacist by training, today she is Quality Assurance Coordinator. She and Acerlan are concerned about the health of their daughter, especially the impaired mobility and scoliosis. “We were initially discouraged and it seemed that nobody was doing anything in this disease area. However, we did not rest and kept on doing everything within our reach to maintain her normal functioning. On hearing about the research going on in this area in my own company gives us hope and confidence,” she states.