Two-year-old Kaitlyn Delobel is returning to Philadelphia, the next step on her medical voyage.
The West Valley girl was there three months ago to become the seventh American child to receive injections of a synthetic copy of a substance that keeps the brain's acid level normal.Born with Canavan's leukodystrophy, Kaitlyn is missing a gene - and therefore an enzyme - that breaks up acid in the brain. Without the enzyme, her brain fills up with the acid and stops producing myelin, which surrounds nerve cells and helps relay information to the rest of the body electrically.
There is no cure for the fatal genetic disorder.
After fighting the national Food and Drug Administration for two years, in March Kaitlyn was approved for the procedure, in which the cloned gene is injected in to a "reservoir" implanted in her head. When she returns to the Children's Hospital of Philadelphia Tuesday, doctors will check her acid levels and, her parents hope, clear her for the other approved injection.
The 15-child study is being run through Yale University Hospital, where Kaitlyn will also return next week for a spinal tap. Before gaining FDA approval, the family had planned to travel to New Zealand where doctors were performing the procedure.
Because the procedure is experimental, the family's insurance doesn't cover the costs of it. Shawn Delobel, 26, is a loan officer and works nights cleaning machines at a local bakery. But the family needs to raise $25,000 for the next injection, as well as money to pay for MRIs and other tests and for the travel to Pennsylvania and Connecticut.
So, they've acquired a certain talent - Tammy Delobel laughingly attributes the talent to her mother - for garage sales.
Friends and family donate items and the Delobels sell them to raise money.
If all goes well on this trip, Kaitlyn won't need another injection for about a year. Tammy Delobel says the gene therapy should keep her from regressing and improve her cognitive abilities.
Without it, the prognosis is only four or five more years.
"We want to give her a better quality of life," Tammy Delobel said.
Since the first injection, Tammy Delobel has noticed improvements in her daughter. Kaitlyn can put her hands in her mouth. She eats better. She's more aware of her surroundings.
Kaitlyn was five months old when she was diagnosed. Her body functions at about the level of a two month old and she can't control her limbs or sit up. But she smiles and laughs and becomes really, really angry at her parents if they leave her, her mom says.
She also knows her brothers, Casey, 7, and Dyllan, 5. In about three months, she'll have a new baby sister.
The garage sale will be held Saturday from 7 a.m. to 6 p.m. at 4302 S. Charles Dr. (4510 West).