A rarity among the rare

By WARREN RICHARDSON

Feeling Fit Correspondent

Gaby Talarico was a beautiful, healthy baby when she appeared in January 1995. Everything normal.

Then she experienced her first episode of thrush, not uncommon, except for Gaby, it appeared as a sporadic rash at different locations on her body. Pediatricians determined it to be just that, an unknown rash. Everything was normal, her doctors said.

That condition prevailed until Gaby was six, when she had her first seizure. A second seizure followed a year later, and in both instances, doctors labeled them as febrile seizures, although after the second attack, they didn't rule out epilepsy. Tests were run and, again, everything normal.

Then came a day in February 2006 when Gaby experienced a severe seizure, one that required administration of a Valium-type drug to bring her out of it.

Her parents rushed her to the ER where the attending physician detected a low calcium level.

Upon the recommendation of a friend, her parents insisted upon re-running the test, which again indicated a low calcium level. Specialists were brought in for consultation.

Everything was not normal.

Further testing resulted in a diagnosis of hypoparathyrodism, where the parathyroid glands fail to function properly.

Despite this diagnosis, Gaby's pediatrician insisted upon further tests to rule out other possibilities. Those tests revealed the truth -- Gaby had a rare genetic disorder known as autoimmune polyendocrinopathy syndrome Type-1, or APS Type-1.

An autoimmune disease or disorder is one in which the body's immune system, instead of working to protect the body, turns on the body and attacks healthy cells and tissues.

According to the National Institutes of Health (NIH), APS Type-1 "is characterized by three specific features: mucocutaneous candidiasis, hypoparathyroidism, and Addison disease. Affected individuals typically have at least two of these features, and many have all three."

Candidiasis is a fungal infection, according to WebMD, that affects the mucous membranes but in rare cases, it can spread through other parts of the body if the patient's immune system has been compromised.

"In children with autoimmune polyglandular syndrome, type 1, these infections last a long time and tend to recur. Many affected children also develop hypoparathyroidism, which is a malfunction of the parathyroid glands. These glands secrete a hormone that regulates the body's use of calcium and phosphorus," says the NIH's Genetics Home Reference website. "The third major feature, Addison disease, results from a malfunction of the small hormone-producing glands on top of each kidney (adrenal glands)."

"It was very surreal," said Gaby's father, Todd Talarico, of the moment they received the diagnosis. "We were frustrated for so long, but finally we got it; it had a name."

Name, yes, but still rare, putting Gaby in a unique class. According to Mary Dunkle, vice president for communications with the National Organization for Rare Disorders (NORD), there are only 300 patients in the United States diagnosed with APS Type-1.

And that's the other side of the proverbial coin. With such a small patient base, research into a cure for APS Type-1 is minimal says Stefanie Putkowski, RN, BSN, the research program administrator and clinical information specialist with NORD.

"In general, research on rare disorders doesn't happen until families take it upon themselves to start the process, often with seed grants," Putkowski said.

"Unfortunately, this is true of many (probably most) rare disorders. The funds are simply not available, as the populations affected are small in comparison to common conditions."

Talarico agreed.

"When you have a rare disease, you stand on an island. There's nowhere to go, no one to talk to. As a parent, you need to become an advocate."

He and his wife, Heather, have done just that, taking it upon themselves to raise funding for research, raising almost $250,000 since 2006, primarily through an annual golf tournament.

The have also created a website, www.apstype1.org, devoted to education and raising awareness about APS Type-1.

Like most patients with APS Type-1, Talarico says there's no treating the disorder; they treat the conditions stemming from the disorder, which can include celiac disease, Type 1 diabetes and in females, ovarian failure. Gaby, now 16, is currently experiencing ovarian failure.

"That almost killed me," Talarico said, "to tell my daughter she was not going to have children."