GIVE THE GIFT
OF ENERGY

“Incredibly frightening.”

That’s the only way Nicole and Larry George could describe how they felt at what they thought would be a routine neurology visit for their then 11-month-old twin girls Kendall and Scarlett.

“I remember the neurologist saying, ‘Something is very wrong,’” said Nicole.

After raising her two other children, Bella, age 9, and the younger Larry, age 6, Nicole had recognized some issues early on with the twins – enough so that she enrolled them both in physical therapy for muscle weakness. When there was little progress after months of effort, the therapist suggested they see a specialist.

This kickstarted months of testing. MRIs. Blood Work. DNA sequencing. Each came back normal. Ultimately, it would take whole-genome genetic testing – and a seven month wait – to get answers.

Results showed the girls had THG1L disorder, a mitochondrial disease that heavily disrupts energy production to the brain and muscles. Specialists estimated at the time, Scarlett and Kendall were the 13th and 14th children diagnosed with the disorder. Like all primary mitochondrial diseases, there is no approved treatment or cure.

“It was absolutely earth-shattering,” said Nicole. “I was devastated.”

Said Larry: “I was more angry than scared. I started thinking how are we going to fight to get them what they need? Who do we reach out to?”

Nicole described those first few weeks post-diagnosis as the most trying for her. “For several weeks, my mind swirled. I just couldn’t stop thinking about losing them. If you let it, the grief can overwhelm you. But at some point, I realized you’ve got to say, ‘This is our new journey, we’re ready to go on it and surround yourself with resources and people who will fight for you.’”

The United Mitochondrial Disease Foundation (UMDF) was one of the first places the family turned to for support and information. Within months of their outreach, Nicole and Larry found themselves at UMDF’s annual Mitochondrial Medicine Conference, which brings together hundreds of affected families and many of the top mitochondrial disease clinicians and researchers in the world.

“It was incredible connecting with the other families,” said Nicole. “It wasn’t always the same struggles, but everyone has different things to deal with.” Larry found the conference’s Doc Is In sessions, where families can meet one-on-one with some of the most renowned names practicing medicine, helpful. “I would have stayed there all day if I could,” he said.

Armed with much-needed knowledge and support, the two years since the diagnosis have been a whirlwind of specialists, surgeries, and hospital visits, filled with equal parts hope and despair.

For both girls, now age 4, nutrition has been a major issue. They had g-tubes inserted to help with food, medicine, and a “mito cocktail,” a special mix of supplements and vitamins. They’ve also moved to a keto diet to try to slow their seizures.

They spend quite a bit of time in therapy focused on helping with muscle strength for things like sitting up and breathing. Nicole described their head control “like that of a six-month-old baby.”

Kendall has also had a rough stretch of seizures lately, which has the family concerned. “If you’ve never experienced them, they are truly scary,” said Larry.

Even though life with mitochondrial disease is incredibly difficult, the Georges see those glimmers of hope. “Before I put the girls to sleep. I always say, ‘I love you,’” said Nicole. “About two weeks ago, Scarlett said ‘I love you’ back to me. It was the highlight of my year.”

The girls’ personalities have grown over that time as well. They share a ton of love and laughter with their siblings, Nicole said. “Our son Larry, he just wants to make them laugh. They love his voice and get excited every time they hear him come home from school. Bella loves them deeply. She talks about them at school. Every teacher she encounters knows their story.”

With twins that have high medical needs, it’s been a challenge to give their siblings the attention they deserve, said Larry. Not that they notice. “That’s what I love about the two older kids. When we go to Disney or a theme park like Kennywood, they never get frustrated with the girls. They know we need to feed them and never make it an issue. They should want all the attention, but they love their sisters unconditionally. They’ve never put themselves first. They’re angels on earth.”

While both parents hope for a cure – or even a treatment, their goals have become far more basic.

“More than anything, I would love for them to talk. They understand so much more than people give them credit for,” said Nicole. Larry agreed. “We don’t say anything in particular, and they’ll randomly giggle. They process so much more than we imagine. To hear them speak would be a dream.”

Their experience at conference led to the family getting more involved in UMDF locally, including participating in an Energy for Life Walk near their home in the Pittsburgh area, where family and friends joined them to raise funds for UMDF’s mission.

“I think it’s so important for donors to support UMDF. There are so many mitochondrial diseases. We need to bring more awareness for how desperately we need the research to bring positive impact to families like ours, and ultimately to get to the bottom of how we can cure mitochondrial disease,” said Nicole.

Your financial gift to UMDF today is crucial in so many ways, whether it’s supporting newly diagnosed families, educating clinicians about mitochondrial disease, advocating on Capitol Hill, or funding the research that unlocks future treatments – or even cures – for mitochondrial diseases like the THG1L disorder that affects Kendall and Scarlett.

Thank you for helping us fuel the fight.