Rare Disease Day: Richmond mother turns grief into advocacy after losing son to rare disease

RICHMOND, Va. (WRIC) -- Donna Reynolds of Richmond knows all too well the devastating toll that a rare disease can take, not just on an individual, but on an entire family.

Her son, Kellan, was diagnosed with an incurable mitochondrial disease at the age of nine, after a long and exhausting journey for answers. For five years, Reynolds struggled to understand the mysterious symptoms that her son was experiencing -- from constant fevers to severe mobility and immunity issues.

More than 7,000 rare diseases affect nearly 30 million Americans, with many of those impacted being children. Yet, despite the alarming statistics, 95% of these diseases lack treatments.

As a result, families, advocates and healthcare professionals are tirelessly working to spread awareness and secure more funding for research. For Reynolds, the fight for rare disease awareness is deeply personal.

It wasn’t until they sought out specialists out of state that they finally got a diagnosis.

"It makes me angry that it took so long. It was - they kind of lab-ratted him in the beginning and I feel kind of sad that he had to go through that," Reynolds said.

The diagnosis came in 2015, confirming that Kellan had a rare mitochondrial disease -- a condition that impacts the body’s ability to produce energy at the cellular level. Despite undergoing various treatments, Kellan’s condition worsened, and he tragically passed away at the age of nine.

“And I look back at it and I wish I'd taken him to the proper doctor in the beginning instead of having all these five years of torture," Reynolds said.

Kellan’s story is one that resonates with many families battling rare diseases. According to the National Institutes of Health (NIH), rare diseases affect one in ten Americans, with children making up a significant portion of that number. However, for most rare diseases, there is still no treatment, and the road to diagnosis is often long and grueling.

Dr. Mary Elizabeth Parker, a medical liaison with the U.R. Our Hope, a nonprofit that works with people with rare diseases to find a diagnosis and treatment, emphasized the challenges that families face in getting an accurate diagnosis for rare diseases.

"I use cerebral palsy for example — most of us know what cerebral palsy is, we know what autism is, we know what down syndrome is. But if it doesn't fit in that picture, we don't always ask questions," Parker explained. "Most of the individuals that come to us, it takes seven years to get a disorder. And most children died before we got a diagnosis."

This harsh reality is what drives Reynolds’ advocacy efforts. Since Kellan’s passing, she has worked tirelessly to honor his memory by helping other children who are undergoing similar struggles.

One of her key initiatives has been organizing an annual toy drive in honor of Kellan, Kellan's Legacy of Love, which provides toys and comfort to children who are receiving treatment at St. Mary’s Hospital -- the same hospital where Kellan spent so much of his time.

The toy drive has been a huge success, and it’s just one of the many ways Reynolds has worked to raise awareness for rare diseases. Through her efforts, she has been able to shed light on the lack of funding and research dedicated to these conditions, something she believes needs to change.

“It should be studied more, and more money should be put into it,” Reynolds said. “The reality is that there’s not enough support for these diseases, and that needs to change.”