Family seeks answers, finds hope after daughters diagnosed with rare genetic condition
STEAMBOAT SPRINGS — You can hear the love in Mariah Gillaspie’s voice as she talks about her daughters Emma and Abby, who suffer from a rare genetic disease that causes seizures and development issues.
“Emma, she’s our oldest, and she’ll be 4 in October,” Mariah said. “She’s our calm, sweet little child. She has these little coos that sound like a dove. … She really enjoys music, and she loves being around other kiddos her age.
“Abby is our younger daughter, and she’ll be 2 in October, and she is our feisty little thing,” Mariah continued. “So, she lets you know when she’s happy; she lets you know when she’s not happy.”
There is no question the two girls, the only two people in the world believed to have this disease, are surrounded by the love they get from Mariah and their dad Mark.
Mark grew up in Steamboat Springs and graduated from high school here in 2001. The couple now live in Centennial, but Mark’s parents, Jeanne and Joe Gillaspie, still live in Steamboat as does Mark’s older brother.
Four years ago, Mark and Mariah were overwhelmed with joy as they welcomed their first child Emma to the world, but when she was three months old, the couple started to notice she was having some strange movements, and when she started having episodes where she would hold her breath until she would turn pale, the couple took her to the doctor.
The doctor initially thought it was reflux, but when Emma stopped breathing in the doctor’s office, she was rushed to Children’s Hospital of Colorado for more evaluation and tests.
“Throughout all this, I was convinced everything was going to be OK,” Mariah said. “It never crossed my mind that something was seriously wrong, and I had never considered that these were seizures.”
Lightning and Love: lightningandlove.org
Eventually, Emma was diagnosed with infantile spasms, which Mariah said didn’t look serious on the outside but were damaging Emma’s brain and impacting her development from the inside. Emma started treatment immediately, and the family was encouraged with the results. But then there was a relapse and a new medication, and then another relapse and another new medication.
Mariah said each new medicine came with a longer list of side effects, and Emma’s immune system suffered. She had a bout with pneumonia that left her in the hospital for two months.
Through it all, the Gillaspies continued to search for answers.
“We did a whole slew of genetic testing, and it came back inconclusive, “ Mariah said. “They found absolutely nothing that could be the cause of her disease, and they told us this is probably some completely random condition that was caused by something that happened in utero.”
They also told the Gillaspies that Emma’s condition was rare, and there was less than a 3% chance of it happening again. So after extensive genetic testing, they decided to have a second child.
When Abby arrived two years later, they were thrilled, but at about six weeks, they noticed their youngest daughter was displaying the same movements that Emma had shown prior to her diagnosis. So it was back to the doctors, and it was confirmed through genetic testing that Abby and Emma shared the same mutated gene — THAP12.
After discovering their daughters were suffering from the same condition, the family embarked on a grassroots effort to drive research about the rare genetic disease, which led to the creation of a foundation, Lightning and Love, a name that was chosen because the family believes lightning struck their family twice in the form of two daughters with the same rare disease.
“The doctors would say, ‘I’m sorry, there’s nothing we can do. We have to wait for science to catch up,'” Mariah said. “Every doctor that we’ve encountered has really been amazing and done their very best for us. It’s just unfortunate science hasn’t caught up to the girls, yet. That’s kind of, whereas parents, we’re passionate enough to move science along a little faster.”
The latest research funded by the foundation involved genetically engineering a zebrafish model to see if it showed symptoms of disease, specifically seizures. The zebrafish did have seizures, which Mariah said was a major breakthrough toward the ultimate goal of finding a gene replacement cure for her daughters.
But the journey for Mark and Mariah has proven to be more than just research and discovery.
“What we’re realizing is the more we talk about it, and the more we do to get our story out there, the more we’re realizing that there’s a lot of other parents that are going through tough times with their kids, too,” Mark said. “In an odd twist, or an ironic twist, this tough hand that we’ve been dealt has actually been a very positive light to a lot of other people out there. For me, that is just as important as the research.”
The family’s story was recently featured on the podcast, Go Shout Love.
The couple’s positive message is guiding them along the road they hope will lead to a better life for their family. But in the meantime, Mark and Mariah will continue to put smiles on their daughters’ faces the same way most other parents do — by offering their love, support and opportunities to find happiness.
For Emma, that means being tossed into the air and caught by her daddy, and for Abby, it is time in her sensory room and being around her dad and her family.
“Emma loves very big movements. She’s not mobile, and she can’t walk, so when we kind of throw her around in the air or fly her around the room, she absolutely loves it,” Mariah said. “Abby loves her daddy. She gives big old smiles when he walks into the room.”
To reach John F. Russell, call 970-871-4209, email jrussell@SteamboatPilot.com or follow him on Twitter @Framp1966.
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