The research and development landscape can feel stacked against those with rare diseases — that’s especially true for people like the two families featured below — and the tens of thousands of other patients who face mitochondrial disease every day. Mitochondrial science continues to progress, but therapies for the mito community remain elusive. The Mito Fund is a critical step to changing that.
Meet Baylee & Jody
“Early on, we knew something was wrong,” said Jody
At only nine months old, her daughter Baylee was diagnosed with
For Jody, it would begin a 20-plus year fight for her
daughter and the mito community.
Over that time, she would fundraise to the tune of nearly
$100,000, attend numerous mitochondrial medicine symposia, become a support
ambassador to help others, and advocate for mito friendly legislation.
In the meantime, Baylee continued her fight, eventually
graduating high school and now, at age 22, is involved in a day program where she finds friends and shares passions.
“We refused to put her in a bubble,” said Jody
“A lot of special needs kids are pushed aside. Not Baylee.”
Today, as Baylee’s day-to-day caregiver, Jody says it’s
unlikely a cure – or even a treatment – would be meaningful to Baylee, but that
doesn’t mean she’ll stop speaking up.
“Baylee will always be loved,” she said. “But
now I fight for the next generation of mitochondrial disease patients. At some
point, we have to say it’s not going to happen again.”
Meet Jeremiah & Aneesa
Like many parents, Aneesa’s introduction to mitochondrial disease several years ago was jarring.
After months of jumping from specialist to specialist who ran test after test searching for answers for the weakness in her then seven-month-old son, Jeremiah, she got a dreaded answer. Her son had Thymidine kinase 2 deficiency, better known as TK2d, an extremely rare mitochondrial disease and enzyme deficiency that affects less than 200 people in the U.S.
“They handed me a sheet with his diagnosis and some mito resources, said he had a few months to live and told me to get in touch with hospice,” said Aneesa.
As she learned more, she became determined to help Jeremiah – and other mitochondrial disease patients – fight however she could.
She became a UMDF ambassador, helping support other mito families just like she was supported years before. She also became a Consumer Peer reviewer for the Congressionally Directed Medical Research Programs that help allocate and fund research programs – including for mitochondrial disease – for the Department of Defense. She participated in a UMDF-sponsored Patient Listening Session with the U.S. Food and Drug Administration (FDA), where she underscored the burden of TK2d and need for new treatments.
“When I talk to decision makers, I want to paint a picture,” said Aneesa. “We’re talking about the ability to eat, to breathe, to walk. I want them to see the human side of things — to appeal to the person under the uniform.”
Tk2d has taken much from Aneesa and her family. Her career. Time with her other three sons. Even her bed, as she now sleeps on the couch next to Jeremiah, waking every hour to two hours to care for him.
But it’s not a fight she’s willing to lose.
“I never knew really how to love my kids until Jeremiah,” she said. “I have dreamed of him running and talking. My ultimate dream for him is simply to get better in God’s timing. But we also have to take our dream into our own hands.”