Oct. 6, 2010— -- Jonah Wood Weishaar is literally one in a million. An active and playful toddler from Brooklyn, N.Y., Jonah was recently diagnosed with a genetic disease so rare that there are only a few dozen cases in the entire country.
Jonah's mother, Jill Wood, says his diagnosis last May was "a parent's worst nightmare." She's determined to do whatever she can to find a cure.
Two-year-old Jonah may seem perfectly healthy now -- a blond-haired bundle of energy chasing a ball and climbing the jungle gym. But tests show he was born with a fatal disease called Sanfilippo Syndrome Type C.
Children with the syndrome are missing an enzyme necessary to break down toxins in the body. Over time, these toxins build up in the brain and cause behavioral problems and a loss of language and mobility. Eventually patients can no longer walk, eat, or breathe on their own. There is no cure, and most patients die by the time they reach their teens or 20s.
Faced with that devastating news, Jill Wood knew she had to take action – and fast. Since Jonah's health has not yet started to decline, she said, "I have this big of an opening. Jonah has a chance. That's what keeps me going."
Wood launched a campaign to save her son and children like him. She started a non-profit group called Jonah's Just Begun to help increase awareness and raise money for research. And she's working nonstop to track down other kids with Sanfilippo Type C to join in the first study of patients with the rare syndrome.
There are estimated to be about 100 people with Sanfilippo Type C in the United States. (The disease has four variations -- Types A, B, C and D -- with C and D being the rarest.)
So far Wood has found six children to join the study, but doctors need at least 10 to get meaningful results, so the search continues. The study will be "the first time anybody has even sat down and really examined our children's diseases and how it affects each child," she said.
The study is only the first step toward finding a cure. Next, a pharmaceutical company must be convinced to start researching potential treatments. There's no financial incentive for companies to develop a drug for such a rare illness, so Sanfilippo families will have to count on what's known as the Orphan Drug Act.
The Orphan Drug Act
Under the Orphan Drug Act, the federal government provides tax credits and other benefits to drug companies that work on treatments for rare diseases.
The Food and Drug Administration has approved 361 "orphan drugs" since the act was passed in 1983. The director of the FDA's orphan drug program, Dr. Timothy Cote, says "millions of people have been helped by this program since it started."
Jill Wood is hoping her son will be one of them.
She thought Jonah was fine last year when she took him to the doctor for his 1-year-old checkup. But the doctor picked up on a clue the family never noticed, ordering an MRI because Jonah's head size was "off the charts" big for his age. Follow-up urine and blood tests confirmed Sanfilippo Syndrome Type C.
In some ways, Jonah is lucky. Type C is considered a milder form of the disease because it takes longer to develop, though it is still incurable. And he was diagnosed early, so he could get a head start on therapy to help his speech and strengthen his muscles.
The syndrome is often difficult to diagnose in young children, and some families go from doctor to doctor for years without learning what's wrong.
For now, Jonah is doing well and his mother says she is "very hopeful." She says she'll keep fighting for a cure -- 24/7 if that's what it takes.
Where does she find the strength?
"In him," she says. "He wakes up smiling and he just makes my day."