South Florida father pushes for more research into rare genetic disorder
BOCA RATON, Fla. – For the first few months of her life, 9-year-old Ella Frank seemed perfectly healthy, but after a few months she started missing key milestones and having other difficulties.
“She never learned to crawl, she never learned to roll over on her own or walk, so at that point we took it more seriously and took her to a neurologist here,” her father, Tim Frank, said.
Ella was diagnosed with a condition called Rett Syndrome, a genetic disorder that’s present at conception but doesn’t become evident right away.
“They go for six months, a year and a half of their life acting and developing normally, and then there is a period of stagnation when they stop gaining skills and that’s followed by a period of regression, which is very traumatic for the families,” said Dr. Francis Reynoso Santos, a genetic specialist with Joe DiMaggio Children’s Hospital.
The tell-tale signs of Rett Syndrome is repetitive hand wringing, but it goes beyond that.
“Children lose the ability to talk, walk and feed themselves. They can have breathing and sleeping problems and may suffer from seizures,” Reynoso-Santos said.
The condition was first identified back in the 1940’s, but it wasn’t until 1999 that scientists at Baylor College of Medicine linked Rett Syndrome to a defective gene on the X chromosome.
“We still don’t understand what it does, but we know that it is a protein that is a regulatory protein that tells other proteins what to do and it has to do with brain development,” Reynoso-Santos said.
While there is no cure for Rett Syndrome, patients can live for many years with the aid of a variety of therapies and technologies.
Through his work with www.RettSyndrome.org, Frank is on a mission to raise awareness and funding for research.
“No one’s heard of this, and if no one’s heard of it then no one can really help you get to where you need to be,” Frank said.
Drug trials involving mice have shown promise in reversing some of the symptoms of Rett Syndrome.
The Rett Burden of Illness Survey will kick-off internationally in the UK, Italy, Germany and Australia on Feb. 10. This coincides with the month of Rare Disease Day -- Feb. 29.
The U.S. survey is still ongoing and has been successful to date with the goal of reaching 300 families and 50 healthcare providers. For more information visit VoicesofRett.org.
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