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Imagine being the parent of a child with an obvious physical condition that was progressively worsening but that no one could treat or even define. That’s real life for Chris and Sarah Nasif of Mississippi and their daughter, 7-year-old Mia.
Everything was normal with Mia’s development until she was about 1 year old and not yet walking. At 16 months old, her grandmother noticed a tremor. At 18 months, Mia’s pediatrician suggested seeing specialists, who were stymied. Sarah and Mia traveled to a pediatric hospital in Colorado, where Mia had a brain scan, which showed cerebellar volume loss. In Colorado, they saw a genetic specialist and, as Sarah says, “began the journey.”
Back home in Mississippi in 2015, Mia underwent whole exome sequencing (WES). The purpose of WES is to try and find a genetic cause of an individual’s signs and symptoms. But it came back negative. “Science hadn’t caught up with what was causing this,” says Sarah. Meanwhile, Mia’s symptoms were worsening. She couldn’t walk on her own, had a global developmental delay, started to lose words she had previously known, and had symptoms of ataxia, or impaired balance or coordination. “She’s a smart little kid, but it takes her longer to process,” says Sarah.
When Mia was 2, Chris and Sarah learned they were pregnant again, this time with a little boy. After Max was born, they noticed some of the same delays in him they had seen in Mia, but less severe. That year – in December 2017 – they had the whole exome sequencing re-run. This time there was a possible hit: GEMIN5.
In 2015, when Mia first had WES, GEMIN5 had not yet been discovered. A mere two years later, it had. And the Nasifs were the ninth family in the world to receive the news that their children had a GEMIN5 mutation – it still doesn’t exist as a disease.
The Nasifs’ geneticist in Mississippi connected the family with Deepa Rajan, MD, of the Center for Rare Disease Therapy and the Division of Child Neurology at UPMC Children’s Hospital of Pittsburgh. She had some of the very first cases of a variant flagging this gene. She and Udai Pandey, PhD, a researcher in neurology, are the first to identify how changes in this this gene can lead to disease.
In September of 2019, the family traveled to UPMC Children’s Hospital, where Drs. Rajan and Pandey presented Mia and Max’s cases at the Neurogenetics Clinical and Translational Research Conference. This is a process physician-researchers go through to try and perfect their theory of the disease. They are now writing a scientific paper about the disease.
“Rare diseases like Mia’s and Max’s give us clues to understanding the complex functioning of the nervous system. We learn a lot from each of our patient families and are hopeful that by working together, we can take small but sure steps toward better clinical approaches for the care of these patients,” says Dr. Rajan.
To date, there’s no treatment, no cure. They have done physical, occupational, and speech therapy, therapy for Mia’s dyslexia, behavioral therapy and counseling, aquatic and equine therapy to help mitigate some of her symptoms.
“This can be an Isolating and lonely and scary place,” Sarah says. “Having people to talk to is huge. There is so much hope.
“It’s been very hard but I’m very hopeful, because while we have a long way to go we have passed the first and biggest hurdle, which is pinpointing the cause — and that’s what Dr. Rajan has done. So we’re incredibly lucky.”
Contact the Center for Rare Disease Therapy.
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
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