Meet Radha

“Give yourself grace.”

Radha’s journey with Leukodystrophy.

In 2016, Radha was born healthy, full-term, and full of life. For her first year, she hit every standard milestone, laughing, babbling, and exploring Chicago with her family. But as the months passed, milestones weren't being met and her mother’s instincts knew something was off. 

At first, doctors offered reassurance. Physical therapy helped her regain strength, allowing her to walk with one hand held, but independent steps never came.

Trusting her instincts, her mother requested a neurology referral before Radha was two. The specialist sent back a paper progress note stating he saw no underlying neurological issue.

“As a mother, you hear what you want to hear,” her mother, Sonal recalls. “It was what I wanted to hear… that nothing was wrong.”

The diagnosis

Shortly after, Radha’s health took a rapid turn. She began experiencing weakness in her hands and difficulty eating.

Desperate for clear answers, her mother insisted on a brain MRI. The results brought a sudden revelation: Leukodystrophy, a rare and rapidly progressive genetic disease affecting the brain's white matter.

“It was a very shocking diagnosis. It was traumatic,” Sonal shares. 

Within just four to five months of diagnosis, the disease moved aggressively. Radha lost the ability to walk and sit up-right, requiring a feeding tube and around-the-clock care.

Finding the Village

Faced with the prognosis, Radha’s family did what any loving parents would do- they looked for hope anywhere they could find it.

They petitioned a pharmaceutical company for compassionate access to an experimental enzyme replacement therapy (ERT), but were turned down because enrollment was closed. Despite being turned away, they refused to give up.

Knowing they couldn't navigate this path alone, they made a life-changing decision to relocate to Atlanta to be closer to extended family.

“My sister told me, ‘Move down here and we’ll do this together,’” Sonal remembers. “Those words have stayed with me forever. I’m always mindful of what we have and deeply grateful.”

The Turning Point: Entering a Clinical Trial

In late 2019, a patient advocacy group alerted the family that a new cohort was opening for the ERT study in Pittsburgh, this time tailored for children with more advanced disease.

For parents, entering a clinical trial may feel scary and full of unknowns. But for Radha’s parents, both physicians by trade, the choice came down to perspective.

“It’s always a risk, and it is scary because you don’t know how your child is going to respond,” her Sonal reflects. “But for us, if there was something we could try, we wanted to try it. The alternative was devastating. If it meant incurring risk to possibly help her, it was worth it.”

By December 2019, Radha was enrolled. Her family's goals weren't about grand miracles, but about comfort and stability.

“Our hope was simply to keep her happy, comfortable, and stable,” her mother explains. “And we’ve gotten that, and so much more.”

Finding a Home at RDR

Initially, participation required grueling weekly flights from Atlanta to Pittsburgh, a heavy burden made even harder by the onset of the COVID-19 pandemic.

Then came the relief they desperately needed: Rare Disease Research (RDR) worked behind the scenes to host the ERT study onsite in Atlanta, bringing Radha’s trial care just a 20-minute drive from her front door.

“To be able to get this care so conveniently and drive right back home…it was an absolute godsend,” Sonal says.

At RDR, Radha didn't just receive medication, she found a team who advocates for her. From staff dressing up as Inside Out characters on Halloween to greeting her with warmth every week, the clinic became a place of joy.

“Even on hard days, to come to a place where everybody is so kind and truly invested in her care, they make it fun and lighthearted.”

Small Victories, Deep Connections

Through her ongoing trial participation at RDR, Radha’s condition stabilized. Soon, small moments began to emerge.

Within just a few infusions, Radha began making sounds and vocalizing again. Her cognitive awareness flourished. Today, using an eye-gaze-tracking communication device, Radha chooses her own music, picks out her favorite movies, and selects her clothes.

“She’s a fancy girl! She loves to go shopping,” her mother smiles. “I see her maturing into a teenager. Her tastes are changing, her personality is bright, and that internal drive is still there.”

When trial roadblocks appeared, such as when the initial trial ended and required doctors to fight for Expanded Access, the team at RDR stood in the gap to ensure Radha’s treatment never stopped. Hearing that her care would continue indefinitely felt like “a weight lifted off our shoulders.”

Words of Hope for Hesitant Families

To families standing at the edge of a rare disease diagnosis, unsure whether a clinical trial is the right step, Radha’s mother offers gentle, grounded wisdom:

“Give yourself grace. You have to give yourself a break and know that you are doing the best you can for your child,” Sonal says.

“When it comes to clinical trials, if you are willing to take on that risk, there is a real chance your child's life could be impacted for the better. We all want what's best for our children… and for us, taking that chance was worth every single step.”