Colorado sisters are only patients in the world with rare genetic disease

CENTENNIAL, Colo. (KDVR) — Mariah and Mark Gillaspie couldn’t have been more excited for the birth of their first daughter, Emma.

“I had the Pinterest-perfect nursery. I read books to my pregnant baby and bought the most expensive prenatal vitamins. You do all these things for your children expecting them to be healthy,” Gillaspie said during an interview at her home on Tuesday.

Shortly after Emma was born four years ago, the couple one day noticed their baby had stopped breathing and turned blue, while crunching into a ball. They rushed her to the hospital where she was later diagnosed with infantile spasms. Infantile spasms have devastating consequences on a child’s brain. 

“We started treatment immediately and were reassured when it initially worked, but Emma relapsed quickly. Each medicine we tried had worse and worse side effects,” Gillaspie said. “I have so many memories of just, feeling numb, laying in the fetal position crying, mourning the loss of the child I thought I was having.”

A year and a half later, the Gillaspie family wanted to try for another child. They became pregnant with Abby, who began to show the same exact warning signs Emma did as an infant.

“Our world flipped 180 degrees. We had no idea how to handle it,” Gillaspie said.

After extensive research, doctors diagnosed both Emma and Abby with an ultra-rare genetic disease called THAP-12. They are the only two known patients in the world with the disease.

“It happens all the time. We have genes that mutate within our bodies, and some of them cause disease, and some do not,” Gillaspie said. “Unfortunately, my husband and I each have a mutation on one copy of one gene. We happened to pass that broken copy onto both of our girls, which is so rare. The fact that he and I both had this mutation on one gene is really crazy.”

The Gillaspie family became fighters for their girls, starting their own nonprofit, The Lightning and Love Foundation, to help raise money for rare genetic diseases — including the one affecting their family. 

“Our goal is to raise money for our disease. I want to save our babies,” Gillaspie said. “If I can find something that takes away the pain, that’s what I am fighting for.”

Emma, now 4, and Abby, 2, suffer from constant seizures that can stop their breathing. Emma has to always wear oxygen. Developmentally, both girls remain under 3 months old and can only eat through a feeding tube. They have little use of their limbs and cannot hold up their heads.

There is no treatment and no cure for THAP-12. The family describes every day as putting a bandage on severe and chronic symptoms. Gillaspie currently works as a software engineer but went back to school to become a nurse to better help her children at home.

“I just hope they know how much I love them and how much my life is for them. I hurt when I see them hurting, and I want to take it away from them so badly,” Gillaspie said. “I want them to be healthy and happy. I just hope they can feel my love.”