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.
“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 cystinosis is thirst and the need to urinate frequently. Gabbie needs access to water at all times and her kidneys don’t reabsorb minerals and salts, so she has to drink solutions of sodium bicarbonate and phosphorus. By age nine or 10, most children with cystinosis need dialysis and a kidney transplant.
When they figured out how serious their daughter’s disease was, the Strausses immediately reached out to see what kind of support was available.
“We were just like, ‘Who else has it, what groups are out there?’” Trevor said.
The answer to both questions was ‘not many.’ Cystinosis affects about 2,000 people worldwide, 500 of them in the United States and probably only about 50 in Canada. There simply was no foundation in Canada; the closest was the Cystinosis Research Foundation in California.
Trevor and Jody were both shaken by Gabbie’s diagnosis, but Trevor’s reaction was to do something about it. So they’ve launched Gabbie’s Wish – the Cystinosis Awareness and Research Effort (CARE) in partnership with the CRF. All the money raised will go to research toward finding a cure.
Initially, they planned to start small and gradually build their fundraising effort. Then an anonymous donor offered to match donations to the CRF up to $1 million. That gave them a goal to strive for: Trevor wants Gabbie’s Wish to raise $1 million this year.
It’s an ambitious goal, but a necessary one. There’s no government funding for cystinosis research; all the money for research grants has been raised by private donors.
The Strausses have already made a start with a bake sale organized by Trevor’s team at Rogers and a pig roast and poker party held by a family friend. Trevor’s family is planning a dance in St. Clements, and they’re hoping other people will step forward to organize fundraisers. They’re also looking for corporate sponsors to help underwrite the administration costs or donate supplies and services in kind.
The Strausses have had their moments of despair and self-pity. Learning about their daughter’s disease, how to care for her, and the ins and outs of setting up a charitable organization verged on overwhelming. Adding to the stress is the fact that Jody is eight months pregnant with their second child, and there’s a one in four chance this one could have cystinosis as well.
In spite of it all, they’ve stayed positive and even optimistic. There have been significant advances in cystinosis research, including the development of a slow-release drug that could be taken every 12 hours instead of every six.
Jody said it helps to see that Gabbie is thriving, in spite of her disease, and that there is work being done towards a cure.
“I feel like there’s hope, so that’s what keeps us going.”
For more information or to help out, visit www.gabbieswish.com