Nearly two years after Violet Law, who’s now 3, was diagnosed with GM1 gangliosidosis, her parents, David Law and Veena Sison-Law, are hoping that California will officially recognize the fatal and rare disease on May 23, which is International GM1 Gangliosidosis Awareness Day.
GM1 gangliosidosis is an aggressive disease in which the body does not produce adequate enzymes to break down certain molecules. These molecules instead collect on the brain and spinal cord, resulting in widespread neurological degeneration that leads to an inability to walk, eat or speak.
It’s also rare—only about 1 in 100,000 to 1 in 200,000 infants are born with GM1 gangliosidosis each year, which means not many people are aware of it, and not much funding is dedicated to finding a cure.
Law and Sison-Law want to change that.
Since first receiving Violet’s diagnosis in May 2021, shortly before her second birthday, the couple has dedicated themselves to advocacy and awareness, beginning with a fundraiser to benefit the Cure GM1 Foundation, the only nonprofit organization specifically dedicated to GM1 research and drug development. The initial goal was to reach $25,000, but in just five days, the family raised $86,000.
As of Tuesday, the GoFundMe has garnered over $157,000 for the cause.
Since launching that fundraiser, the family has kept busy supporting the Cure GM1 Foundation’s efforts.
“The stage we’re at now, is that after the initial adrenaline and initial rush wears off, then you’re left with this chronic issue that needs more than just a lot of initial energy,” said David Law, a physician who has cared for patients at Long Beach Memorial and St. Mary medical centers. “It needs this persistence and this chronic dedication to it.”
A happy life
While no child should have to face a diagnosis of GM1 gangliosidosis, Violet has been lucky.
In October 2021, her family received exciting news: Violet was accepted into a four-year clinical trial at UCLA, which, to Law, speaks directly to the benefit of advocacy and research. Violet began the experimental medication in November 2021.
While Violet is able to tolerate some foods by mouth such as yogurt or ice cream, she currently uses a feeding tube, and is unable to walk, move or talk much, Law said.
Due to the nature of the trial, Law was unable to share any specifics, but reported that Violet was doing well and has remained out of the hospital for the last year.
“Unlike a lot of people with her condition, she’s remained happy and able to smile and laugh,” Law said. “It’s not a ‘normal life,’ but it is life. It’s a happy one.”
She even started preschool recently through a special education program at the Los Angeles Unified School District, something Law said he never thought he would see.
With more advocacy, Law hopes that there will be more clinical trials and medications in the future that kids, including Violet, can benefit from, Law said.
Last November, Law joined the Cure GM1 Foundation as a board member, which has largely involved writing letters to the U.S. Food and Drug Administration and meeting with state representatives to advocate for not only GM1 funding and research, but also FDA regulatory changes that might help ease the process for finding cures for other rare diseases, Law explained.
Oftentimes, the drug approval process is not suited for rare disease patients. For example, a placebo-controlled trial would be morally unethical when it comes to a rare disease, where the population is only a handful of kids, Law said.
“There are certain things about that that I think we can, even on a regulatory standpoint, advocate for, that might make drug development easier,” Law said, “so that when the drug gets made, there’s an easier time clearing the bar to get to the public, considering safety and all that, of course.”
In a step toward expanding awareness, last year, the organization introduced an International GM1 Gangliosidosis Awareness Day, an initiative that has gained momentum in a few states so far: Arizona, Colorado, Iowa and Michigan declared May 23 International GM1 Gangliosidosis Awareness Day last year, and this year, Idaho and Massachusetts joined the ranks.
Law hopes that California will be next.
Recently, the family visited Sacramento to speak with various representatives. Now, they’re just waiting for someone to author the resolution, Law said.
In the meantime, Law created an online petition, which has gained 586 signatures as of April 25.
“We just find that advocacy is so important,” Law said, “because it helps with regulatory issues and it helps funding and fundraising.”
Acknowledging GM1 through a day of recognition would spread awareness among the broader public, but it would also potentially help health care providers recognize the symptoms and signs earlier and know which diagnostic tests to order, ultimately improving outcomes, Law said.
As it stands, “there’s not necessarily a common playbook to go in diagnosing it,” Law said.
On average, it can take about four years to get diagnosed. That’s because physicians tend to look for the most common possibilities first, and nine times out of 10, that will lead to the correct diagnosis, said Law.
Identifying GM1 gangliosidosis can also be difficult because its symptoms can mimic cerebral palsy or other neurologic diseases, and misdiagnoses are common, Law said.
In Violet’s case, it took a genetic test to ultimately pin down the diagnosis, he said.
“Even though you don’t have all the treatments and therapies, the sooner the diagnosis, the sooner we can anticipate certain things that the child might need, such as feeding tubes or physical and occupational therapies,” Law said. “Though we can’t necessarily cure the disease, early intervention definitely is beneficial and helpful to this population.”
‘We take comfort in these little joyous things’
While the last two years have been largely dedicated to advocacy, that time has also been spent learning how to live with a child with a rare disease, Law said.
“I think that’s the thing that people should know about rare disease parents,” Law said, “that no matter how happy they appear, how confident and how together that it all appears, every day it is very difficult and at times, it hasn’t been all rays and sunshine.”
But above all else, the Law family has kept busy creating the best possible quality of life for Violet, who will be 4 on June 11.
“I think it goes from this initial, just devastating shock to this kind of like, daily, dull pain that’s just there,” said Law, reflecting on the past two years. “And some days are better, some days are worse, and we take comfort in these little joyous things.
“Like every time Violet can smile and laugh, and every time she’s able to ride Pirates of the Caribbean in Disneyland—I mean, these are wonderful, wonderful things,” he added. “And it’s also taught me to savor those moments.”
Looking forward, Law said the future is hard to predict, but he knows who will share the ups and downs of whatever may come.
“It’s an ongoing evolving process,” Law added. “If you ask me where I’m gonna be a year from now, probably just trotting along the path, but it is a path, and I’m grateful to have the support of my wife and family with it.”
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