Benefit to support Newark 5-year-old with rare genetic disorder Salla Disease

Around the time in her baby girl’s life when she should have been celebrating first steps, Crystal Grooms was concerned that 12-month-old Everly was not yet able to sit up independently. She describes her blond-haired, blue eyed daughter as being very “floppy” — lacking muscle tone and its accompanying ability to support her limbs.

An MRI revealed thinning of the white matter in Everly's brain, where nerve fibers are located; she also was diagnosed with hypotonia, or low muscle tone.

These diagnoses alone were concerning, but it wasn’t until Grooms, of Newark, and her partner Rob Martin, Everly’s father, were introduced to a geneticist with a patient in Coshocton County who exhibited similar symptoms that they were able to connect Everly’s diagnoses with their root condition: A rare disorder known as Salla Disease.

According to the National Institute of Health’s Genetic and Rare Diseases Information Center, Salla Disease is an inherited disorder that primarily affects the nervous system. Symptoms can range from developmental delays to uncontrolled muscle movement and seizures; about one third of children with Salla learn how to walk.

Though the diagnosis was jarring for the family, the timing was fortuitous. The Coshocton County patient had been diagnosed in 2018 at the age of 17; Everly, born in 2017, began exhibiting symptoms around that time. The disease was discovered with a urine test when she was 13 months old.

“(The hospital) called me one day and said that they got the results and unfortunately she has Salla Disease, and they also don't know anything about it,” Grooms said. “They told me that I could go to therapy if I wanted, and that was it.”

Very little is known about Salla Disease, and though online support groups exist, a large portion of children with the syndrome live in Scandinavia, where language barriers make communication difficult, Grooms said.

The hospital provided the family with information for a mother in New York whose son also had Salla; aside from that, she and Martin were left to do their own research and advocacy — which she said can become exhausting and isolating.

“It’s difficult…because nobody even knows what (Salla) is,” Grooms said, adding that she often compares it to cerebral palsy to give people a frame of reference, though the two conditions are different. “Nobody just ‘gets it.’”

Nearly four years into the diagnosis, life for Grooms, Martin, Everly, now 5, and her younger sister, Lena Martin, 3, looks different than it might for a typical family. While they have fit in as many therapy sessions as time and resources will allow, Everly remains immobile.

But Grooms has a shot at changing that, and she’s going to take it.

In October, while researching alternative therapy options for Everly, Grooms came across a specialized center in Texas that offers three-week intensive therapy sessions for pediatric patients. The facility, NAPA Center Austin, had just closed its enrollment for the upcoming session, but Grooms put Everly’s name on the waitlist in hopes that an opening would come up.

In January, Grooms got the call: There had been a cancellation, and Everly was accepted into the program, which begins at the end of March.

Because insurance will not cover the sessions, everything about the trip will be out-of-pocket for Grooms and Martin.

That includes travel, meals, lodging at a local Airbnb and the sessions themselves, among other things. Lena will be joining her sister and Grooms for the trip, though Martin will remain in Ohio for the majority of the time so he can continue to work to support their family.

What is the family’s ultimate hope for Everly in Texas?

Ideally, learning to stand.

“She needs strength — core strength — to be able to stand. If she could stand beside me, like with me holding on to her, even if she can't walk on her own, that's my ultimate goal because I carry her now and she's getting quite big and heavy,” Grooms said. “And other kids with Salla do walk, so she definitely has the potential to do that.”

In addition to physical therapy, the sessions will include speech, occupational and DMI (dynamic movement intervention) therapy, which Grooms describes as a “more intense physical therapy” that would allow Everly to bear her own weight while being supported by specialized equipment.

Though Everly is currently nonverbal, Grooms was told she could expect her daughter to have a vocabulary of around 20 words; she is hopeful for that, as well.

But time is of the essence: Grooms was told that whatever Everly was able to do by the age of five was what she could be expected to do for the rest of her life.

That window is closing, but she remains hopeful.

“I felt like when we got accepted, it was pretty meant to be,” Grooms said. “And if I didn't do it now, I feel like, is she going to ever end up being able to do it?”

Already the community has rallied around the family, with local businesses donating items to contribute to their upcoming fundraiser. Grooms and Martin are optimistic that with local support and a generous dose of hope, Everly will return home in April with skills that will change her life forever.

“People have been great through this whole thing,” Grooms said. “Asking for donations has been really nice to see how many great people there are that want to give.”

To help pay the bills for Everly’s therapy, a benefit dinner is being held Sunday, March 5 at the Moose Lodge #499, 235 W. National Dr., Newark. The event will take place from 2 to 6 p.m. and feature live music, a chicken and noodle dinner and silent auction. For more information, search “Everly’s Therapy Benefit” on Facebook.

A GoFundMe also has been set up for those who wish to contribute. It can be accessed at the following link: https://gofund.me/1974d36b

This article originally appeared on Newark Advocate: Benefit to support Newark 5-year-old with Salla Disease