Nikki Huggan remembers her heart sinking as she stared at the screen. There, in front of her, were 25 symptoms of mitochondrial disease.
Just weeks earlier, doctors had given her and her husband, Jason, two potential causes of the health issues for their then-toddler son, Gavin: cerebral palsy or mitochondrial disease.
“I remember saying, ’Well, it has to be cerebral palsy, because I have no clue what the other thing is,’” Nikki said.
While they worked to get a genetic diagnosis, the family decided to make the two-hour drive to Philadelphia for a patient-family meeting hosted by the United Mitochondrial Disease Foundation. It opened with warning signs that should lead doctors to suspect mitochondrial disease.
“When those 25 symptoms went up on the screen, I remember Jason just deflating,” she said. “Gavin had 20 of them.”
Testing confirmed Nikki’s and Jason’s fears. Gavin was diagnosed with mitochondrial disease, which in the broadest terms means mitochondria cannot convert food and oxygen into life-sustaining energy. Most forms of the disease take a terrible physical and mental toll on the body and can affect the ability to walk, talk, eat, or even breathe — and much too often, lead to a shortened life. There is no treatment or cure for any form of the disease.
It’s not uncommon to hear of diagnostic journeys that are measured in years for mitochondrial disease patients. Your generosity today can help change that. UMDF offers numerous doctor-focused educational options, and in 2022, launched a pilot no-cost genetic testing program, that has since expanded and has provided nearly 500 patients results. Your support is critical in continuing programs like this.
From ages two to five, the disease rapidly progressed, causing chaos in Gavin’s small body. “I can’t even tell you how often we were in the hospital in those early years,” said Nikki.
At age five, Gavin received a gastrostomy tube (G-tube), which feeds him 20 hours daily to this day. Receiving consistent nutrition helped to provide some stability as he aged, but as with many mito patients, there were frequent health and developmental setbacks. Even today, as an 11-year-old, that’s still the case.
“It seems like the disease levels off for a few months, then something small puts him into a tailspin,” said Nikki.
The unpredictability of mitochondrial disease that Nikki describes takes its toll on patients and families. That’s why getting support is so critical. Last year, over 5,500 patients, caregivers, and supporters attended more than 350 UMDF events. Your donations help UMDF provide support, connection, or simply a shoulder to lean on for thousands of patients and families.
Nikki says she and Jason work hard to give Gavin some sense of normalcy. That sometimes means they focus on “quality of life, rather than quantity of life.” Despite the risk, Gavin attends public school and gets together with friends whenever he can.
“He really is just a regular kid underneath it all. There’s just a lot of poking and prodding that goes on,” she said.
Gavin’s younger sister, Hayden, age 8, was sadly also diagnosed with mitochondrial disease. Despite the same diagnosis, the disease has manifested itself very differently in her body. She has some muscle weakness and gastrointestinal issues, but never experienced rapid progression like Gavin did in his early years.
“They are very close. They really champion each other. It’s not the typical sibling relationship,” Nikki says. Both kids require weekly health check-ins where Gavin gets immunoglobulin infusions and Hayden gets injections for skin and allergy issues. During those, Gavin refuses to leave Hayden’s side. “Gavin is constantly telling her how things work, encouraging her to stay calm and that everything is going to be okay,” said Nikki.
The lack of an approved treatment for any mitochondrial disease can leave affected families feeling hopeless. UMDF is working to change that. Since our inception, we’ve provided more than $15 million in funding to over 100 labs as that are working toward solutions. Progress is happening. In the US, there are now more than 15 products in the therapeutic pipeline. But we’re not done yet. Your financial support of UMDF is critical to bringing a successful treatment to patients like Gavin.
After attending support calls for years, Nikki decided to become a UMDF Support Ambassador, where she uses her knowledge to help guide other mito families. She’s also become a UMDF Advocate, frequently reaching out to congressional members to urge the passage of mito-friendly legislation. Earlier this year, she was selected to be a mitochondrial disease peer reviewer for the Department of Defense’s (DOD) Congressionally Directed Medical Research Programs, a position that allowed her to judge several research funding applications related to mitochondrial disease.
“It was amazing to have my thoughts heard by these brilliant people,” she said. “There were a couple of incredible projects that I thought, ‘If these don’t happen, I’m gonna go find people.”
We have UMDF Advocates to thank for mitochondrial disease being added as an eligible research topic to Defense’s Congressionally Directed Medical Research Program. This program alone has generated more than $60 million in funding for mitochondrial disease research. Your gift could be amplified thousands of times over through UMDF’s advocacy work.
In the meantime, Nikki dreams of a world with a cure – or even a treatment – for the mitochondrial disease that affects her children. So does Gavin.
“Gavin loves The Avengers and calls himself ‘Super G’. He often tells me about how he creates a world in his mind where everyone is healthy, there are no doctors, and everyone likes the things he likes,” she said.
We’re working to make Gavin’s dream of a world where no one suffers because of mitochondrial disease a reality. We can only continue to do that through the generosity of donors like you. Help us make Gavin’s dream a reality by making a gift today.