What are clinical trials for rare diseases?

21-year-old Arya Singh is a senior at Yale University and suffers from spinal muscular atrophy (SMA). It is a progressive degenerative motor neuron disease that is often considered life-threatening. As a child, she was enrolled in clinical trials for several new treatments for this condition. Recently, she wrote a book for her children, “Courageous Characters and Clinical Trials,” helping other children like her who may need to enroll in her clinical trials. To commemorate her Rare Disease Day, she today shares what it’s like to live with and participate in research.

When I was 1 year old, I started walking hard and stumbled quite a bit. Immediately after my parents realized that I had stopped meeting my childhood milestones. Worried, they took me to the doctor to learn more. A month before my brother was born, my parents discovered why I had a hard time. I had SMA and was in a fatal condition in the end.

At that time, there was no actual cure and little research was done on SMA. My parents were devastated and felt hopeless. However, they put fear into action, funded research, and helped create the SMA Foundation to encourage better treatment.

But for years we have been waiting for development. SMA mainly influenced people physically, I thrived at school, got good grades and made friends. I participated in it when one of the first potential treatments for SMA started clinical trials when I was 10 years old. As a kid, this sometimes felt daunting. I had to have a regular spinal puncture to receive the medicine, which was annoying and painful. I couldn’t go to school often and experienced spinal subarachnoid headaches when water leaked from the spinal arachnoid. The only way to relieve this pain is to lie down. So I tended to lie on my back while my friends were playing or biking.

On my 12th birthday, I was waiting for surgery. I shouted to her mother that she didn’t want to go to the hospital for my birthday. She hugged me and reassured me, but also said that this remedy was the best gift I could receive. That moment was imprinted in my memory. Participating in a study feels physically difficult and invasive. That was the background of my childhood. Still, I was grateful. This treatment caused pain and confused my childhood, but also slowed the progression of symptoms. When treatment involves pain and inconvenience, it is difficult to balance gratitude as a child.

Oddly, however, this moment defined what I wanted to do in my life. I wanted to improve clinical trials for patients and healthcare providers.

But when I was in high school, another drug, risdiplam, took part in a clinical trial and I enrolled in it. This treatment was an oral drug. It seemed reassuring that I didn’t need regular spinal punctures. Finally, I felt like I could live a life beyond SMA. The timing wasn’t better than this — I was in the third year of high school thinking about college and I felt that being able to take pills to manage SMA didn’t get in the way too much. It gave me so many options.

Participating in clinical trials changed my life. Fear, despair and anxiety characterized the first half of my life. The second half of my life was one of hopes and opportunities.

Both medicines I received are aimed at keeping the patient at the level of function I had. So, for example, children who receive it after the first diagnosis will experience as severe symptoms as they did then. People like me who started receiving treatment at the age of 17 will have the same strength as when they started treatment. But Risdiplam seems to boost my strength. Having SMA means my lungs are weaker than those without this condition. When I caught a cold, I often had pneumonia because I couldn’t cough enough in my lungs. I haven’t had pneumonia since I started this new medicine because I have a strong cough. There are also everyday methods that I struggle with, such as picking up a textbook and easily opening a water bottle. Instead of expecting to stay at baseline, I’m improving. It was humble and amazing. Clinical trials can be painful and turbulent for patients. Still, it’s worth it to me. Clinical trials have extended my life and made it possible to live beyond SMA. Participating in the research also influenced my life as it helped me understand the marks I wanted to put on the world. It was a truly disguised blessing.

My parents often emphasized that I was infinite. I could do any dream I had. But doing something meant that I needed to be healthy and strong. So I felt it was worth it to take the risk of participating in a clinical trial. This medicine allows me to spend more time doing what I like, rather than just focusing on survival. I can now prosper and help others throughout my career.

I am the only one who has greatly benefited from participating in clinical trials. Not everyone has the same positive experience. Still, I hope my story dreams of people with rare diseases and wants a better cure for their illness.