San Diego Union Tribune, Sunday, July 13, 1997 (Page B-2 )
Medicine showing children they can live out their dreams
Lola Sherman
STAFF WRITER
13-Jul-1997 Sunday
Natalie Stack is only 6 years old, but she knows what it means to graduate from high school and it's certainly something she wants to do.
That's why she spent a lot of her time at UCSD yesterday shadowing 18-year-old Whitney Glaize, who succeeded in realizing that dream last month when she graduated from high school.
Not too many years ago, that would have been an impossible dream for Glaize and others like her.
Glaize and Natalie have cystinosis, a rare kidney disease*, which before the advent of kidney transplants and a new medicine, cysteamine, usually meant death before the age of 10.
So far, the medicine seems to have fended off the need for a transplant.
The families of both girls were among the 35 families taking part in the annual Cystinosis Foundation conference on the La Jolla campus.
Other important participants included people such as Dr. Jerry Schneider, the UCSD pediatrician who developed the lifesaving drug 20 years ago; physicians who have prescribed it; representatives of the federal Food and Drug Administration, which approved it 10 years ago**; and delegates from the pharmaceutical firms that manufacture it.
But the guests of honor were the children surviving because of it.
Natalie's mom, Nancy Stack, from Corona Del Mar said it was important for her daughter to meet teens living and coping with this disease.
Although cysteamine allows its patients to live a relatively normal physical life, it has its psychological side effects because, Schneider admits, "it tastes and smells a lot like rotten eggs."
The odor lingers, creating a social dilemma for teen-agers.
Glaize, a young Goldie Hawn look-alike from Orlando, Fla., said she's overcome the problem somewhat with breath fresheners.
Stack went to Natalie's kindergarten class to explain that her daughter's bad breath is the result of her medicine, which lets her run and play like other children her age but whose smell dissipates an hour or so after it's taken.
Patients are expected to take the medicine every six hours.
Joshua Hotz, 15, from Lancaster, admitted, "I'm not the best" at taking his medicine. "But I do pretty good."
Joshua is proud to point out that the founder of the Cystinosis Foundation, Jean Hotz, is his grandmother.
Karen Stephens, Schneider's assistant, said there are only 300 known cystinosis patients in this country. It's a genetic disease transmitted by a recessive gene in both parents.
Judi Wetzell, 35, of Portland, Ore., thinks she's the oldest woman with the disease. She has undergone two kidney transplants, first receiving an organ from her mother in 1970 and a second kidney donated by her sister in 1981.
At 4 feet 3 inches tall, Wetzell is typical of the stunted-growth syndrome of cystinosis patients.
But she hasn't let it slow her down.
She is a substitute teacher who also works in movies and television as an actress and a stunt woman for children.
In addition, she proudly points out the fact that she is "a world-record athlete" in shot put, discus and javelin and badminton and boccie ball in the Dwarf Athletic Association of America and will represent the association at the World Games in Peterborough, England.
Now, if she just didn't have so much trouble with her eyes.
Photophobia, sensitivity to light, is one of the effects of cystinosis where cysteamine has not proven effective.
The disease, Schneider explains, causes amino-acid crystals to form in the kidneys, bone marrow, white blood cells, muscles and eyes. He's developed eye drops that help, but they're not available commercially yet.***
Corrections to article:
* Cystinosis is not a "kidney disease", although it does affect the kidneys.
** Cysteamine was approved August 1994 by the FDA, not 10 years ago
*** The eye drops were developed at the NIH, not by Dr. Schneider