NEWS |
THE OBSERVER | Saturday, April 18, 2009
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Out of the fire hall and on to the stage for ETC production.......................»23 Out of Africa a changed person
»10 VOLUME 14, ISSUE 15
SATURDAY, APRIL 18, 2009
www.ObserverXtra.com
Born under a bad gene
18-month-old Gabbie suffers from cystinosis, a rare disease that slowly destroys internal organs A few weeks ago, Jody Strauss had her 18-month-old daughter Gabbie in the car with her when they passed a wedding dress shop. Gabbie pointed happily to the beautiful dresses in the window, and Jody had to fight back tears. “Honey, I don’t know if you’ll ever be in a wedding dress,” she thought. From the outside, Gabbie looks like any other toddler: wide-eyed, mischievous, smiling when she gets her way and pouting when she doesn’t. On the inside, it’s a different story. The first child of Trevor and Jody Strauss has a rare, incurable genetic disease called cystinosis that is slowly destroying all the organs in her body. Every cell in the body has structures called lysosomes, which break down old proteins into their building blocks, amino acids. With cystinosis, the amino acid cystine builds up inside the cell and crystallizes. The crystals damage cells in many systems of the body, especially the kidneys and eyes. It was the Strauss’ family doctor, Patrick Landy, who first suspected something wasn’t right with Gabbie last October. She still wasn’t crawling at 10 months, so he sent her for X-rays. They revealed what he thought was rickets, a softening of the bones in children. But when a local pediatrician took the films to the Grand River Hospital, a doctor of radiology there said they looked normal and sent the family home.
PHOTO | DAVE FRASER
JONI MILTENBURG
A RARITy Eighteen-month-old gabbie Strauss looks like a happy, healthy toddler, but she suffers from cystanosis, a genetic disease that is slowly destroying her organs.
“We didn’t ask many questions, because we thought, ‘great, that’s what we were hoping for,’” Jody said. A month later they went back to Dr. Landy for routine immunizations, and he told them he hadn’t received any report from the pediatrician. Still concerned about rickets, he referred them to Sick Kids Hospital in Toronto.
Doctors at Sick Kids confirmed Gabbie had rickets. Concerned about kidney disease – rickets can be a symptom – they ordered a barrage of tests. The Strausses spent the weeks before and after Christmas taking Gabbie to Toronto for blood work, urine samples, an ultrasound and more blood work. Finally, on Jan. 21, they got the kind of news no parent
ever wants to hear: Gabbie had cystinosis. “At first we thought [rickets] was really bad, and then it just went from bad to worse,” Jody said. “If only it was just rickets …” Cystinosis is caused by a mutation on chromosome 17. Jody and Trevor are both carriers for the disease, meaning they have one normal copy of the gene and one mutated copy.
Children of carriers have a one-in-four chance of getting two copies of the mutant gene and having the disease. Neither Jody nor Trevor knew they were carriers; they didn’t even know what cystinosis was. In the months since Gabbie’s diagnosis, they’ve become experts. The only treatment for cystinosis is cysteamine (marketed as Cystagon) which breaks down the cystine crystals. The drug is approved by the U.S. Food and Drug Administration, but not by Health Canada. The Strausses get access to Cystagon through the Health Canada Special Access Program, for patients with serious or life-threatening conditions on a compassionate or emergency basis. Cystagon has to be taken every six hours, which means rising at midnight and again at 6 a.m. to give Gabbie her medication. Cystagon helps slow the formation of cystine crystals, but it can’t reverse the damage already done and it’s not a cure. The oldest living person with cystinosis is 44; most die before age 40. Cystinosis also causes photophobia, or sensitivity to light, as cystine crystals build up on the eyes. The only treatment is hourly cysteamine eye drops, which aren’t approved by Health Canada or the FDA. Gabbie doesn’t yet need the eye drops, but she’s approaching the two-year mark where most children do, and she has an appointment at Sick Kids in June. The kidneys are the first organs affected by the disease; one of the symptoms of cysSee CYNSTOSIS »08
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