Editor’s Note: Hugo Trevino, 27, lives with spinal muscular atrophy (SMA) type 3. His passion for helping others has led him to work as an Muscular Dystrophy Association resource specialist who assists newly diagnosed families and returning patients who are navigating their independence as adults for the first time. Today, he is speaking at the Food and Drug Administration (FDA) SMA Patient-Focused Drug Development (PFDD) meeting, which is designed to help the FDA to fulfill its commitment to understanding the patient perspective. At the PFDD meeting, individuals impacted by a specific disease convene to share their personal experiences of living with the disease, and to share insights on treatment impacts that would be most important or beneficial. Importantly, the meetings provide an opportunity for the patient’s voice to be heard and incorporated into the development and regulatory process. Cure SMA leads a coalition of stakeholders, including MDA, at the PFDD meeting for SMA, being held today, April 18, 2017, in Silver Spring, Maryland. As Hugo writes, “This meeting will give the FDA a new perspective they have not heard before.”

Being chosen to speak in front of the FDA and represent the SMA community makes me feel incredibly honored. Today’s SMA Patient-Focused Drug Development (PFDD) meeting with the FDA means we have a voice as patients living with rare muscle diseases. The PFDD meeting was set up so that patients with SMA and the parents of children with SMA could stand before the FDA and voice their concerns, discuss their experiences with research and address the need for continued research that evolves to include more patients. This is my story.

SMA affects almost every aspect of my life. Accepting this disease and advocating for myself is what has made me love my life and live as independently as possible.

Although my oldest sister also has SMA type 3, going through the diagnostic journey was not any easier for my parents when I was diagnosed at the young age of three, even though they knew what to expect. As my muscles weakened, I began using my first walker at seven and received my first manual chair at the age of nine. I completely stopped walking and acquired my first power wheelchair at the age of 12. By the time I was 15, I could no longer dress myself. My scoliosis, which had not seen much progression during my adolescent years, required me to undergo a spinal fusion at the age of 22. Overnight, I grew 3 inches and was able to breathe better as my ribcage was no longer crushing my lungs. Even though my disease has plateaued, at the age of 25, I first started noticing muscle weakness and fatigue so severe that I could no longer feed myself on certain nights.

Preventative care is key; however, eating healthy, taking vitamins and supplements, exercising, and doing breathing treatments and other home treatments will not not cure my disease.

I am excited to see how treatments and cures will advance from here as we now have Spinraza and many other drugs in the pipeline. As an adult with SMA, I could only hope that there will be a cure for future newborns so they will not have to experience growing up with SMA. Personally, I would be eternally grateful for a treatment that would either halt the progression of my disease or, even better, improve my muscle strength.

I have come to terms with not being able to walk, but I would like to be able to do more activities on my own. At this point, I would be happy little things that would allow me to have more independence, like being able to dress myself or not needing the care of personal assistants to use the bathroom or help with transfers in and out of bed. A huge improvement would be to not feel so fatigued by the end of the day or not struggle to feed myself or move my arms for simple things, like reaching for items or even typing. I hate feeling so fatigued on certain nights that I must stay in and not participate in everyday activities that allow me to live my life to the fullest.

My current neurologist says my disease has plateaued and I would agree as I don’t notice much change from year to year. Yet as I look back or hang out with friends who haven’t seen me in several years, they bring to light how I am not able to do things like I did or note that I now require more assistance. Though they don’t mean this in a negative way, it makes me reflect on how my disease is progressing; even if it is not drastic, it is still visible long term.

Treatments like Spinraza give me more hope than ever. I never expected to see a cure or even a treatment during my lifetime. The best part of my job as a resource specialist at MDA connecting patients with neuromuscular diseases to available clinical trials. Treatments currently in the trial phase are not just huge for SMA patients but also are creating wonderful ripple effects of hope. Now that breakthroughs in science are within reach, we must continue to band together to let the FDA, researchers working the neuromuscular diseases space and pharmaceutical companies know how much a treatment and, most importantly, a cure means to us.

I am excited to meet with other families at the PFDD meeting today and hear their stories of struggle and triumph. I cannot wait to build connections with these families and hear how they navigate living with SMA and share advice on how to stay healthy and strong. We must join our voices collectively and empower one another to let the FDA know we are more hopeful than ever and ready to advocate for our health. This might be the first time we get to meet with the FDA, but it will not be that last time our stories are heard as we embark on this journey together.

Help advocate for kids and adults like Hugo so they can live longer and grow stronger!