Georgetown child is first in Texas diagnosed with ‘ultra-rare’ disease


Highlights

Doctor says many children who have the genetic defect might be misdiagnosed with cerebral palsy.

The disease causes delayed speech and motor development, and children lose ability to walk, doctor says.

Last Christmas, Suchan Rosenberg of Georgetown got some shocking news about her toddler. Ethan Rosenberg, then 2½, had a genetic disease so rare that he was the only child in Texas to be diagnosed with it.

The degenerative disease — called hereditary spastic paraplegia 47 — is caused by a genetic mutation. Symptoms include delayed motor and speech development, weak muscle tone and a small head size, said Dr. Darius Ebrahimi-Fakhari, who works at the neurology department at Boston Children’s Hospital and is involved in research for a cure for the birth defect.

“Most children (with it) never learn to walk independently,” Ebrahimi-Fakhari said responding to questions about the disease by email.

The disease, known as SPG47, is considered an “ultra-rare disease,” he said. “We know of about 20 families worldwide and are following six families in the U.S. The majority of the U.S. children have been diagnosed only recently, over the last two years.”

The gene that caused the disease was discovered in late 2011, he said. The oldest person diagnosed with it worldwide was 23 years old, Ebrahimi-Fakhari said. All the cases in the United States were diagnosed when the children were under 3 years old, he said.

Rosenberg, who works in mortgage compliance, said she cried when she first heard from her husband about the diagnosis from a doctor through a program at the Columbia University Medical Center in New York. She and her husband, Matthew Rosenberg, who is getting his master’s in health care administration — then sat quietly for a few hours that night.

“We didn’t know what to say or to do,” she said.

Then she read a story in a magazine about some of the other families of the children diagnosed with SPG47 in the United States who had started a nonprofit called curespg47.org. Rosenberg, who in March met those families in Boston, said she is now involved with the nonprofit in raising money to help find a cure. It has raised $450,000 in one year. There is now a match of up to $100,000 for every dollar raised until Jan. 31, she said.

The website for the match is at: gofundme.com/doubletheGood

The nonprofit faces a challenge raising money because of the small number of patients diagnosed, so the match available until the end of January is a “massive opportunity for us,” said Chris Edwards of Massachusetts, whose 4-year-old daughter has been diagnosed with the disease.

The money will pay for research done by two teams working toward a cure, including the team led by Ebrahimi-Fakhari and another led by Dr. Mimoun Azzouz of the University of Sheffield in England, according to the nonprofit’s website.

Rosenberg said she initially knew something was wrong with her son because he suffered from a loss of oxygen when he was born after getting stuck under her pelvic bone.

By the time he was 12 months old, his head had stopped growing. At 22 months old, he was diagnosed with autism, Rosenberg said. She and her husband got Ethan involved in speech and physical therapy for autism, she said.

But at age 2, Ethan was still not walking or talking, Rosenberg said. She said she was searching for what could have caused his small head size — diagnosed as microcephaly — when she signed up for a study at Columbia University Medical Center. The study, which required her and her husband to send in DNA samples, was the one that led to Ethan’s SPG47 diagnosis.

Ethan, now 3½, has progressed and is walking but doesn’t talk, his mother said. He loves jumping on a trampoline, having books read to him and playing with balls and windup cars. In January, he will start horseback riding therapy to help him with balance, Suchan Rosenberg said.

READ: Mom’s education, daughter’s medical care daunting without car

“He loves giving hugs and kisses and smiling and laughing,” she said. “Our biggest fear is that when this thing sets in, he will lose the ability to walk.”

The oldest patients with the diagnosis are now teenagers and are severely impaired, Ebrahimi-Fakhari said. “By age 10 or 12 years all patients are basically wheelchair-bound,” he said.

Ebrahimi-Fakhari said a “lot more” patients might be diagnosed with hereditary spastic paraplegia 47 in the coming years. “That is because the initial symptoms are relatively nonspecific and not many physicians are familiar with the disorder yet,” he said. “I suspect that many children with SPG47 might be misdiagnosed with cerebral palsy, for example.”

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