Raising the Voices of Children with Rare Diseases: Ayla's Story

Any parent can relate to the stress of having a sick child. But when a child is diagnosed with a rare disease, it flips a family’s world upside down and sets them down an often fruitless and frustrating search for answers. Rare diseases affect 30 million Americans, or 10 percent of the population¹. Globally, that number climbs to 263-446 million people². And yet, behind these staggering numbers are deeply personal stories of resilience and hope, like that of Melanie and her daughter Ayla, who lives with methylmalonic acidemia (MMA).

A Lonely Journey, Together

Having a rare disease or being a family member of someone with a rare disease, can be a profoundly isolating experience, given the lack of research, advocacy and treatment options. However, the data tells us that rare disease patients are anything but rare.

For Melanie, the diagnosis of MMA for her daughter Ayla meant embarking on a journey of discovery, uncertainty and strength. MMA is a rare metabolic disorder that impacts the body’s ability to process certain fats and proteins, often necessitating strict dietary management and constant medical vigilance. Melanie recalls the early days of Ayla’s diagnosis, filled with unanswered questions and countless hours researching the condition. “It was overwhelming,” she says, “but we knew we had to fight for Ayla.”

The Rare Disease Gap

As a mother of a son living with a rare disease, I know this journey all too well. My own questions began even before my son was born. During a late-stage ultrasound, doctors discovered he had extra toes and several abnormalities in his brain. Suddenly, my husband and I were thrust into a whirlwind of possible diagnoses—from Dandy Walker Syndrome to trisomy 18—each more devastating than the last. Despite my career in central nervous system (CNS) disorders working alongside neurologists and neurosurgeons, I found myself overwhelmed and unsure of what lay ahead.

After his birth, my son received diagnoses of hydrocephalus and Greig syndrome, a rare genetic disease primarily defined by skeletal abnormalities, perpetuating the uncertainty we feared. While a diagnosis gave us some resolution, the path forward continued to be filled with sleepless nights and countless hours researching what his life might look like. Like many parents of children with rare diseases, we faced a medical system with limited resources devoted to rare diseases, few specialists and no clear answers. Even with my professional background, I questioned every symptom, worried over every test and sought out any sign of hope.

Raising Awareness and Amplifying Voices

One of the many lessons I’ve learned is that there is immense comfort in hearing others’ stories—it offers powerful reassurance that we are in this fight together. This Rare Disease Day, Ayla’s story stands as a reminder of the resilience of children with rare diseases and their families. By raising their voices, we not only increase awareness but also inspire continued commitment to innovative research and development. Melanie and Ayla’s journey highlights the importance of never giving up hope, even in the face of uncertainty.

To learn more about Ayla and hear her story in her own words, watch this video where she and Melanie share their experience living with MMA. Their story is a testament to the strength of the rare disease community and the critical need for continued scientific progress.

Together, we can ensure that rare disease patients are no longer seen as rare, but as warriors deserving of attention, care and solutions. As Melanie says, “Every step forward in research is a step forward for families like ours. We’re not alone.”

¹https://pubmed.ncbi.nlm.nih.gov/37886282/
²https://pmc.ncbi.nlm.nih.gov/articles/PMC9632971/#:~:text=A%20recent%20global%20RD%20prevalence,million%20people%20worldwide%20(10)