Filippo Buccella’s life changed completely when his son Luca was diagnosed with Duchenne muscular dystrophy (DMD) 28 years ago. DMD is a rare genetic disorder that causes progressive and irreversible muscle weakness from early childhood.
Transcript:
I am Filippo Buccella, and I live in Rome, Italy. I am a pharmacist by training, but I didn't know anything about Duchenne; I had heard nothing at all about DMD when I was at University, nothing in my everyday life.
My son Luca was about to undergo surgery for his adenoids when a test revealed that his creatine kinase level was over 11,000 — a hallmark symptom of Duchenne muscular dystrophy. Doctors confirmed the Duchenne diagnosis in a biopsy during the surgery. We never suspected anything because no one in our family was aware of the disease. The worst thing is there was nothing we could do. They told us to go home and try to be happy. This is what used to happen in the '90s. This was a wake-up call for me, because I'm a pharmacist, and I was so sad that I had drugs for everyone and nothing for my son.
When Luca was diagnosed, it was an earthquake for his mother and I. Our dreams, our expectations, our projects, our social life crumbled like a house of cards. There was no future for Duchenne 30 years ago. We were told, he will stop walking at 9, and his heart and lungs will stop by his 20s
Luca completely lost his ability to walk around 10 years of age. He went through a challenging period, falling a lot; he used the knee ankle foot orthosis to prolong his ambulation. But we decided to switch to the wheelchair because it was safer and more comfortable for him. It was a kind of a bittersweet moment for all of us. I remember when we visited the place to try and choose his wheelchair Luca had the chance to try different ones, and he was going all-around at the speed of sound, and maybe for the first time, I had to shout at him (like 99% of all parents in the world) Luca stop! Watch out! Don't go so fast! But he was definitely having a lot of fun! It was also a challenging moment because something (again) was lost.
Luca is a man now; he's 30 years old. Luca's ordinary day is similar to most of the lives of the other millennials. After his job assignments, Luca spends a good time on Facebook chatting with friends, sharing good and bad things. He loves movies, reading books, listening to music, and traveling would be one of his preferred things if life in a wheelchair were easier. To me, he looks like a peaceful and well-balanced man.
Even 28 years on, Duchenne is still a brick in my stomach, something like an unwanted guest in our life. I would like to be able to help a parent whose child was just diagnosed with DMD; it is a very hard task because words in such a terrible situation are useless. I feel we should be able to concentrate on our role as parents; we need to stand by their side, trying to understand their future needs as long as they grow up, focusing on ways to facilitate their everyday life, spending quality time with them, teaching them to invest on their best qualities and follow their personal dreams. All of this forgetting to think about Duchenne, avoiding being scared, nullified by this disease, and remembering that our pain is only secondary to the challenges our son will have to face in his life.
In DMD, the natural progression of the disease is characterized by the loss of motor, pulmonary and cardiac functions. Now we can say that the time when you lose your ability to walk predicts the age of the future onset of pulmonary and heart complications.
We understand that as long as you delay, or if an intervention delays the loss of ambulation, for example, then the rest of the milestones are also delayed, the pulmonary and respiratory effort is maintained, cardiac is maintained. So, as long as we can push out those numbers and preserve these young men for as long as possible, then we're able to keep pushing that number so that we have more time for our children.
GL-DMD-0457 | Date of preparation: September 2021
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