Treatment in Texas: For families of kids with rare diseases, it’s a full-time job to advocate for, raise millions for research

Texas

AUSTIN (KXAN) — How far would you go to save your child’s life? That’s a question some parents have to ask themselves after learning their child has been diagnosed with a rare disease.

While each rare disease only impacts a small portion of the population, thousands of them exist. KXAN found many Texas parents are forced to quit their jobs and become full-time advocates for their kids after diagnosis. Funding research for potential treatments costs millions of dollars.

Here are some of those families.

Simon’s story

Five-year-old Simon could probably hold his own against just about anyone in a game of “Horse.” It’s something you would see go viral on social media, the little guy can sink baskets on his Little Tikes hoop for hours.

Treatment in Texas: rare diseases in kids
Simon moments before he sinks a basket from the couch of his home in Austin (KXAN photo/Grace Reader)

Simon loves basketball. His mom says he’s been that way since he was 2 years old.

While his shooting is beyond impressive, it’s actually the happy dance he does when he’s made a particularly impressive shot that might be more fun to watch. It’s hard not to match Simon’s energy when you’re in a room with him — especially when he’s sinking baskets one after another.

But this isn’t what Simon’s life is going to look like much longer without treatment.

Simon has Sanfilippo Syndrome, a rare disease that his mom, Alina Gorniak, describes as Alzheimer’s in children. As the disease progresses, Simon will lose his ability to speak, care for himself, he won’t be able to run or jump or shoot a basketball, he’ll suffer from seizures and by his teens, Simon will likely die.

“I just cried and cried and cried,” Gorniak said sitting on the floor with Simon in her lap, remembering the night she learned Simon had Sanfilippo. “And then I woke up in the morning thinking okay, what do we do next?”

The answer to that question was to fight, and parents like her have to if they want to see the needle move on potential treatments or cures for rare diseases. Because a rare disease, as the name indicates, impacts so few people proportionally, biotechnology companies don’t generally initiate or fund the research.

That’s where the parents come in.

“We have vulnerably opened our world up to the rest of the world in hopes of finding a cure for Simon and other kids with Sanfilippo Syndrome,” Gorniak said.

Meet Maxwell

Even though rare diseases are — well, rare — Simon’s family is far from alone. Maxwell’s family is going through a very similar process, trying to raise money for research that could potentially save their son’s life.

Treatment in Texas: rare diseases in kids
Baby Maxwell playing with his twin sister Riley and his parents (courtesy Amber Freed)

Maxwell has a disease that doesn’t even have a formal name, referred to by the gene — SLC6A1. The disease causes developmental disabilities, a movement disorder and eventually debilitating epilepsy. Doctors told Maxwell’s parents that nothing could be done.

“They said ‘give him the best life you can, we have no idea what the future holds, you’re going to become the expert in this disease,'” Maxwell’s mom, Amber Freed, said.

Freed quit her job and started calling around to scientists and research groups hoping for a better answer. She found that UT Southwestern in Dallas was willing to develop a gene therapy that could potentially help Maxwell, and other kids with the same disease.

The catch, again, was money. Freed now works around the clock trying to raise enough of it to keep the research from being tabled.

“By far the greatest challenge for me has been balancing motherhood while trying to help Maxwell. It’s finding a balance between fighting for him and being with him,” Freed said.

‘Too rare to care’

For these two families, it’s a full-time job seeking out groups and trials that could help their children. At the end of the day, Freed described her son’s disease as one that fell into the “too rare to care” category.

“Doctors are only going to see a couple of these cases in their lifetime, scientists don’t work on them often and biotechs don’t work on diseases that don’t effect many people because it’s not profitable,” Freed said.

UT Southwestern is where Maxwell’s family turned. Just this month, UT Southwestern was named a rare disease center for excellence by the National Organization for Rare Disorders (NORD). That designation is designed to help “expand access, and advance care and research for rare disease patients in the United States,” a news release said.

But to get her son connected to UT Southwestern, Freed says she had to send a researcher Uber Eats snacks with messages from Maxwell every day. Finally, she found he was going to be at a conference and just showed up.

“Sat down right next to him in a row with no people in it and he turned to me and said ‘hi, Amber,'” Freed said. “It was either going to be a beautiful team or he was going to file for a restraining order, and I’m very happy to report that it has become a beautiful team.”

Meanwhile, the Croke family turned to the Cure Sanfilippo Foundation. Glenn O’Neill, the president of the foundation, also has a child with the syndrome Simon has. Like these families, he and his wife work full-time seeking out a cure.

“Oftentimes it’s left to these parent foundations and organizations to make the difference,” O’Neill said.

The general rule of thumb is that to fund basic research, you need $100,000. To move that to a preclinical research stage, you need $1 million. To fund a phase one clinical trial you’ll need about $10 million and to get an approved treatment all the way through the FDA approval process costs between $50 and $100 million, O’Neill told KXAN.

“We’re not going to sit back and do nothing,” O’Neill said. “We’re going to try and fund that early research so that it actually de-risks the research so biotechs are more interested because some of that early research has been done.”

How Texas stacks up

The National Organization for Rare Disorders puts out a report card every year, breaking down how all 50 states stack up when it comes to supporting people with rare diseases.

In their most recent report, published in January of 2021, Texas failed in three of the seven ranked categories. The state passed, or was given an ‘A’ for three others.

You can read the report here:

The path to diagnosis

There are more than 7,000 identified rare diseases, according to the National Institutes of Health (NIH). Roughly 95% of those diseases have no treatment.

Dr. Brendan Lee, professor and chairman of the department of molecular and human genetics at the Baylor College of Medicine, and the main investigator for the Undiagnosed Diseases Network, says there’s just not enough research available to look into each and every rare disease.

“There are so many rare diseases, and while there’s enormous research that goes on in this country, in the world, and obviously the U.S. has been the leader in the world in investing in research and technology innovation, there still isn’t enough research to account for every rare disease,” Lee said.

The Undiagnosed Diseases Network works to help patients identify undiagnosed rare diseases and connects hospitals and researchers in an attempt to spread awareness and get people to solutions faster.

“Patients often bounce around getting all different types of tests and they don’t point to a known association, a label,” Lee said. “That’s where we and this network come together.”

For more information about the UDN and the application process, visit the network’s website.

How to help these families

Both of these Texas families need your help donating, and sharing their story.

The Freed family is working to raise $1 million to benefit SLC6A1 Connect, which is advocating for research to help find a treatment and cure for kids like Maxwell. To donate visit their GoFundMe here.

Gorniak and her husband working to raise $1 million for the Cure Sanfilippo Foundation, which is doing research that could help kids like Simon. A fundraiser for the Cure Sanfilippo Foundation through Simon’s family can be found on GoFundMe.

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