Patient file: Duchenne muscular dystrophy

Can you describe your son Luca’s path to diagnosis?
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. So, I decided I had to do something. Surfing the internet, I began reading everything I could that was related to Duchenne.

How did you come to terms with his diagnosis?
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. It is heartbreaking to watch your child deteriorate until they can no longer walk or even breathe without help. How do you cope with news like that? We did what we could, one day at a time.

What treatment has he received?
When Luca was diagnosed, there were no drug therapies available for his condition, so our only option was what we call ‘standard of care’, where treatment focuses on neuromuscular rehabilitation, endocrine and gastrointestinal and nutritional management, and respiratory, cardiac, bone health and orthopaedic management.
  
How does Duchenne muscular dystrophy affect day-to-day life?
Duchenne completely changes what your day-to-day life looks like, as a family. At first, I was deeply involved in his daily care, but one day, about ten years ago, I felt that my role as a father was suffering from this situation; we were losing the beauty of our father and son relationship because I had to sort out how to make ends meet with Luca and my job, so we decided to start looking for an assistant.

For 10 years now, Luca has had an assistant helping him in the morning to lift from his bed and do all the daily routines, the same at night and another couple of times, during the day, when Luca needs him. The assistant can also drive him to meet his friends and see a movie or any other appointment. I must say that in the past ten years, we had the chance to organise and plan Luca’s assistance with the best options we could.

What would you say is the greatest challenge living with this disorder?
The greatest challenge of living with this disorder, from a day-to-day point of view, is realising how every single act requires planning and decision to accommodate for Luca. Something as simple as doing a weekly grocery shopping, which you’d do without second thought, now you have to accommodate for your son’s condition and accessibility.

Aside from that, as a parent, the greatest challenge is to try and not communicate your fears to your child, while also being truthful about the limitations of their conditions. You want to tell them everything will be okay and not to worry, but the truth is you can’t guarantee anything. You’re as much in the dark as they are. But you also want to make sure that they do enjoy their life rather than being paralysed by the ‘what is going to happen’ dread. 

Are you satisfied with the medical care Luca has received?
His mother, his medical team and I did the best we could with the information available to us back in the 90s, when Luca was diagnosed. Luca is happy, he is a well-balanced young man, with friends and a job he enjoys. I am proud of the person he grew up to be.

Is there anything you would change about his treatment?
As a pharmacist, it made me so sad that I had treatments for everyone, but not for my son. If I could have changed anything, I would have liked to have something available that would’ve helped, but there was nothing available back then. And if I had a genie wish, I’d hope for a cure.

Do you think the information available to the public on Duchenne muscular dystrophy is adequate?
Like many rare diseases, Duchenne isn’t well-known amongst people who are not linked to the disease in some ways. Myself, a pharmacist, had never heard about Duchenne before Luca’s diagnosis. I had heard nothing at all about DMD when I was at university, nothing in my everyday life. I didn’t have the chance to meet anyone with Duchenne. Now, especially with the internet, there is information out there, but only for those who search for it.

What advice would you give to other parents whose child receives a diagnosis?
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. Apart from this last thing....to me it looks like the normal role of parents, isn’t it?

What is your greatest hope and your greatest fear for the future?
People with Duchenne muscular dystrophy have a life expectancy of around their mid-30s. Luca is 30, so it is something that weighs in my mind a lot. When it gets overwhelming, I try to look at the facts. Luca is not on assisted ventilation yet, so we still have time together. And as far as my greatest hope goes, I think it’s the same as every parent who has a child with a rare lifelong condition: that Luca lives a happy and fulfilling life, making the most of his potential.