Lake Norman & Mooresville

Mom's persistence got correct diagnosis

Years ago, Chrissy Grier walked down the hallway of her home in Huntersville, towel in hand, and caught sight of her 1-year-old, Holt, in the bathtub. For many parents, the scene of a toddler in a tub, warm and rosy-cheeked, would send a shiver of contentment down their spine.

For Chrissy, a different thought flashed through her mind.

She thought: My son is dying.

His body is frail, his skin translucent. His shoulder blades and bones and ribs are evident enough to be individually counted. He looks like a child you'd find on the pages of National Geographic. He looks like he's starving to death.

That day in the fall of 2006 marked the beginning of a five-year journey for Holt, Chrissy and the Grier family - a journey that's far from over. There were misdiagnoses, challenges and tears, and along the way a correct diagnosis for Holt - cystinosis - and a calling for Chrissy, as she attempts to fight not only for her son, but others affected by this rare and potentially fatal disease.

Because cystinosis is so rare, Holt's diagnosis was not an easy one. He presented with symptoms of excessive thirst, vomiting and constipation. The Grier's pediatrician began with a diabetes test that showed that Holt was leaking sugar into his urine. None of his symptoms added up. The doctor was gravely concerned, but had to send them home without answers. That night, Chrissy saw him in the tub ... and her gut told her something was really, really, wrong.

She called the next day, insisting on bringing Holt to the hospital for a full work-up. The hospital said they'd call with the results.

They did call, at 8 o'clock that night. And Chrissy will never forget what they said.

"You need to come here, now. Don't change his clothes, just get in the car and drive downtown. There's a bed waiting. His potassium levels could cause heart failure," the doctor said.

"There's panic," Chrissy said. "And you go into this strange, maternal, adrenaline fight mode."

The Griers spent the next two months seeing specialists, none who could piece together the strange puzzle that was Holt's symptoms. He was tested for cystic fibrosis, as well as a litany of other diseases - so many that Chrissy can't begin to name all of them.

"At one point, we brought the city out to test the creek behind our house and see if it had any mercury, to rule out mercury poisoning," she remembers.

As time progressed, Holt got worse and worse. His muscles deteriorated, he was sick and listless with no appetite. Chrissy's pediatrician suggested a nephrologist.

"Of course, they wanted us to wait for weeks. I said, 'I can't afford to do that,' so we went to the office the next day and just waited for hours for someone to see us," she said.

Who they did see was Dr. Charles McKay - and Holt greeted him by projectile vomiting all over the man. But by the end of the day, the Griers had some answers. McKay felt very strongly that Holt had Fanconi's syndrome, the result of the genetic disorder cystinosis, a lysosomal storage disease. The disorder causes the accumulation of the amino acid cystine within cells. Left untreated, the disease causes complete kidney failure, muscle deterioration and blindness. And there is no cure.

The long road began for the Griers, beginning with treatment with a sulphur-based medicine that was tortuous to administer every six hours. After months of stress associated with getting a 22-month-old to choke down a foul-tasting medicine, the Griers decided to have a gastric feeding tube put in his stomach. Over time, Holt's energy levels improved, the vomiting slowly disappeared, and his appetite increased. He started physical and occupational therapy to learn to pull up and eventually walk.

Now 6 and part of the Montessori program at Davidson Day School, Holt still faces challenges, but he is happy and making progress every day. In December, he became part of a study testing a new medication administered every 12 hours instead of six, and Chrissy is blown away by the effect on him. "He is a different child because of it," she said.

Chrissy and her husband, Jason, now live in Cornelius, along with Holt, their daughter Mary Logan, 11, and son Jack, 9. They started the Hope for Holt foundation back in 2007, with 100 percent of proceeds going to cystinosis research. Feb. 4 will mark the fourth annual Hearts for Holt gala at the Myers Park Country Club. It will include a silent auction, food and dancing.

"We have hope," she told me, "and that's huge."