Two and a half year old Gabbie Strauss is still too young to realize that she’s different from other little girls. As far as she knows, everyone drinks glasses and glasses of water and takes ‘vitamins’ every six hours.
Some day Gabbie will understand that her vitamins are actually medicines that slow the effects of a rare genetic disease called cystinosis. The drugs help prevent the formation of crystals of cystine that would otherwise build up in her cells and destroy her organs.
“I wonder how we’ll deal with things as she gets older and becomes more aware,” muses her mother Jody. “I guess we’ll have to take it one question at a time.”
Cystinosis causes the amino acid cystine to build up in the kidneys, eyes, liver, muscles, blood cells and central nervous system. Kidney function is impaired, causing excessive thirst and urination and eventually kidney failure. Children often appear pale and thin and have trouble getting enough nourishment for proper growth.
Trevor and Jody Strauss learned that their daughter had cystinosis in January 2009, when she was just over a year old. The diagnosis was the start of a turbulent year for the family. At the same time that they learned about the disease and started a routine of medications every six hours, they launched a fundraising effort and started a not-for-profit to work toward a cure.
Family and friends pitched in to organize events and launch the Cystinosis Awareness and Research Effort. There was a dog walk, pig roast, car show, a fun day, bake sales, spaghetti dinners, a fashion show, smoothie day, a golf tournament.
If that wasn’t enough, Trevor started a new job at NextEnergy in Elmira and Jody gave birth to their second daughter, Chloe. Between breast-feeding a newborn and getting up at midnight to give Gabbie her medication, it seemed that there were always lights on at the Strauss house.
“We just somehow got through it,” Jody said. “If we got three hours of sleep, it was a miracle.”
It was an exhausting year, but also a successful one. The new charity raised $106,000, which is going toward a study into stem cell therapy for cystinosis, led by Dr. Paul Goodyer from Montreal Children’s Hospital and Dr. Francesco Emma of Bambino Gesu Hospital and Research Institute in Rome.
In April, Jody flew to California to sit in on a conference where researchers shared their ideas and findings. Driving back to the airport with a group of Belgian researchers, she asked them what all the technical terms and findings they had discussed meant for children with cystinosis.
“I can guarantee there will be a new therapy for your child in her lifetime,” they told her.
Jody struggles to describe just how encouraging it was to hear those words. Belief that a cure will be found – and not just a parent’s blind faith, but a medical researcher’s belief – keeps them positive.
The other thing that keeps them going is that Gabbie herself is a happy, relatively healthy toddler.
There have been a few trips to the emergency room, but they’ve managed to avoid any overnight stays in the hospital. Gabbie eats well and is the size she should be for her age and loves running and going to the park. In September, she starts preschool for half days twice a week.
As she gets older, Gabbie will begin to realize that she’s different from other children, but for now, Trevor and Jody have tried to keep life as normal as possible. Having Chloe has helped; they’re grateful that Jody was pregnant before Gabbie was diagnosed, because they would have hesitated to have another child knowing there was a one-in-four chance that she could have cystinosis as well.
“I don’t think we would want a child to go through what Gabbie has to go through,” Jody said.
The Strausses are also hopeful that a new 12-hour delayed release drug – now in Phase III clinical trials – will be approved soon. The new drug would make it possible for Gabbie to lead a more normal life and would mean she and her parents could get an uninterrupted night’s sleep.
Every step is another spark of light at the end of another tunnel, Jody said, on the road to a day when Gabbie doesn’t need to take medications anymore. The Strausses have made a conscious decision to focus on fewer, larger events – to avoid burning out themselves or their support group – but the fundraising will continue.
“We’re going to be part of a cure,” Trevor said.