One In A Million: The Talarico Family

Editor's note: This story is part of a series NORD is compiling to promote awareness of rare diseases and the special challenges that individuals and families affected by them must overcome.

The Talarico family motto says a lot about living with a rare disease: "If it's meant to be…it's up to me!" Todd and Heather Talarico adopted that motto as a result of years of misdiagnosis of their daughter's rare disease.

"Gaby was born a healthy baby in January of 1995," Todd, who works in the pharmaceutical industry, says. The only sign of trouble was a mysterious rash that would come and go with no apparent cause. A battery of tests, conducted against the advice of their physician, produced only a discouraging "unknown rash" on Gaby's medical record.

Later, a second warning sign also failed to lead to a diagnosis: Deficient calcification (hypocalcification) of Gaby's teeth was attributed to high fevers that she had experienced as a child.

A third warning sign - a brief seizure - occurred when Gaby was around six years old. Todd and Heather took her to the hospital, but again the problem was attributed to fever and a diagnosis of "febrile seizures" was made. Additional seizures later led to a tentative diagnosis of epilepsy but testing, which included overnight monitoring and stress EKGs, produced normal results.

In February 2006, Gaby experienced a seizure so severe that Todd and Heather thought they were losing her. At the hospital, testing revealed a calcium deficiency but the first impulse of the medical team was to dismiss this as a bad reading. A physician at the hospital suggested a second test, and the results were the same. Ultimately, this led to a diagnosis of hypoparathyroidism.

"Thanks to the efforts of the Pediatric Endocrinology Group at the Goryeb Children's Hospital in Morristown, New Jersey, further tests were run to rule out all the other conditions," Todd said. "About a month later, we got the news that Gaby had APS type 1, a very rare genetic disorder. We were shocked, stunned... That was the beginning of the road we now travel."

APS type 1, or autoimmune polyglandular disease type I, is an autoimmune disease characterized by adrenal insufficiency, yeast infection (candidiasis), and additional ectodermal problems. The symptoms that Gaby experienced actually were typical of this disease, but because APS is so rare, these signs were overlooked or attributed to other causes.

Now that they have the correct diagnosis, Todd and Heather have launched an all-out campaign against Gaby's disease. Todd attended the NORD Annual Conference in Bethesda last September, and connected with a designer who helped him build a Web site (www.apstype1.org). He asked a physician with expertise on the topic, Dr. Noel K. Maclaren, to respond to questions on an "Ask the Doctor" Web page.

The Talaricos have also begun raising money for research, and they hope eventually to fund a grant through NORD's Research Grant Program. Since October, they have raised nearly $10,000.

They are also sharing information about their experiences in the hope that others may benefit. Specifically, the tips they offer include:

• Always trust your gut. If you think there is a problem, investigate it. If you don't get an answer that meets your needs, look elsewhere.
• Look carefully at all lab results. If you don't understand them, ask questions.
• You are your child's number-one advocate. Educate yourself and read everything you can to understand your child's disease.
• Believe in yourself. We are hoping to find a cure for this disease, and we are surprising ourselves every day. Six months ago, we knew nothing about Web sites but now we've launched one. We are starting to learn about fund-raising, and we hope to start a non-profit organization in 2007. You'd be surprised what you can do, when you set your mind to it.