Dunkirk family seeks help for rare genetic disorder (2024)

Gladys Soto and Frank Diaz are pictured with their four children: Zania, Dioan, Ian, and Alec. Zania, 19, and Alec, 5, each have a rare genetic disorder affecting the brain.

Alec Diaz, 5, has the FRRS1L genetic disorder, a rare condition that affects the brain.

Zania Diaz, 19, has the FRRS1L genetic disorder, a rare condition that affects the brain.

But now, thanks to recent medical developments, the couple has hope that things could change for two of their four children battling a rare brain condition.

Gladys Soto and Frank Diaz moved their family to the U.S. from Puerto Rico in 2006 to seek treatment for their daughter, Zania, who has a rare genetic disorder of an area of the brain known as FRRS1L. The family eventually settled in Dunkirk in 2017.

Gladys and Frank have been married for nearly 30 years. Together they have four children: Zania, Dioan, Ian, and Alec. Zania is the oldest, at 19 years old, while Alec, 5, is the youngest. The FRRS1L genetic disorder is present in Zania and Alec, but not in Dioan, age 16, or in Ian, age 9.

The FRRS1L genetic disorder impacts brain function as messages in the brain do not get through from one cell to another. The disorder leads to epilepsy, abnormal movements known as progressive dyskinesis, developmental delay, diffuse hypotonia, cortical and cerebellar volume loss, and gradual loss of responsiveness to the environment.

Alec Diaz, 5, has the FRRS1L genetic disorder, a rare condition that affects the brain.

The latest research shows that children born with the disorder have developmental delays from birth until two years old. While delayed, abilities still develop gradually over the first two years of life. But then, at age two, seizures lead to regression and sudden loss of abilities and functions.

Zania initially showed only slight delays in her motor skills in her early years, which were treated with physical therapy. But at approximately 18 months old, Zania would not stop crying at night. The next day, she showed uncontrolled movement in her hands. After a week of continuous movement, Zania began to lose strength in her neck. She could no longer hold toys in her hand, stand without being supported, or even eat on her own.

“It was very painful to watch and it was confusing because we didn’t know what was happening to her,” said her mother, Gladys Soto.

The family consulted with a neurologist in Puerto Rico, but all of the tests Zania underwent did not have an answer for her symptoms. As a result, the family was urged to travel to the U.S. to seek a diagnosis. After arriving in the U.S., Zania suffered a major seizure that led to respiratory failure.

“We were heartbroken. It was like our world was falling apart in front of our eyes,” Gladys Soto said.

Zania Diaz, 19, has the FRRS1L genetic disorder, a rare condition that affects the brain.

Zania was diagnosed with generalized epilepsy, but the cause of the seizures and loss of motor skills were still uncertain, even after a visit to the Children’s Hospital of Philadelphia. The family then moved to Massachusetts so that Zania could be treated at the Boston Children’s Hospital.

Zania underwent tests and treatment for 11 years, but her condition did not improve. All of her blood tests came back normal, but the seizures and loss of motor skills still presented. She has lived the majority of her life as quadriplegic.

The family then moved to Dunkirk in 2017 to settle permanently, while doing their best to treat Zania’s seizures. Shortly after settling in Dunkirk, Gladys became pregnant with her fourth child, Alec. After birth, Alec appeared to be healthy and reaching milestones on track, just as his siblings had.

“I was happy because he was healthy,” Gladys said.

But one night, Alec would not stop crying, just as his older sister had almost two decades prior.

“Here again, our world was shattered,” Gladys said. “It was so difficult to see and accept that whatever was causing my daughter to have all of those medical problems was going to do the same to my son. We cried, we cried a lot. It hurts so deep inside you.”

Alec began to lose his ability to hold his head up following his first seizure. He soon could not stand or eat on his own. The ability to play and laugh was gone in about a week after his first seizure.

“Like my daughter, it was painful to see how they were losing their abilities and independence,” Gladys said.

Alec was taken to Dr. Cynthia Beatty, a neurologist at Oishei Children’s Hospital in Buffalo. Gladys shared the story of Zania with Dr. Beatty, and initially, she gave the same diagnosis as the other doctors had. But this time, however, a genetic test was run on Alec – a luxury that was not available when Zania was his age.

The test revealed the genetic mutation of FRRS1L in the brain. The same test was then run on Zania, which revealed the same genetic mutation. Zania received an official diagnosis for the FRRS1L genetic mutation at age 16.

“Finally after 16 years we got a real diagnosis for my daughter,” Gladys said.

From there, the family began to search for more information about the condition, but the rarity of the genetic mutation coupled with how new the testing to identify it was resulted in very few examples to compare to. Gladys eventually discovered an article in the Journal of Medicine referencing research held in Germany about the condition. Treatment was administered to mice that showed gene replacement treatment restored function to mice with the disorder.

Studies are also being conducted in Texas by Dr. Berge A. Minassian, a Professor in the Departments of Pediatrics, Neurology, and Neuroscience at UT Southwestern. He is the Division Chief of Child Neurology and serves on the faculty of the Children’s Medical Center Research Institute at UT Southwestern. Both Zania and Alec were enlisted to be part of the research.

Additionally, the Finding Hope for FRRS1L Foundation was established by families of children with the FRRS1L genetic disorder. Finding Hope for FRRS1L seeks donations to continue to fund studies for avenues of treatment for the disease. The organization is seeking to raise $1.1 million by December 2024 to advance to the next phase of research, including toxicology, to prove the treatment is safe.

Zania and Alec are two of nearly 20 children or young adults whose struggle with the FRRS1L genetic disorder is documented on FRRS1L.org.

“We need to let the world know that they can change the world of my kids with a cure,” Gladys said.

Donations can be made online at www.frrs1l.org/cure.