The Krummenackers began suspecting something was wrong with their daughter, Laura, when she was just 2-years-old.

"Laura was under-weight, small in stature and considered a 'failing to thrive' child," said Marybeth Krummenacker of Hicksville. "Instinctively, I knew something was wrong, but didn't know how to get doctors to listen to me."

What Marybeth didn't know at the time was that the symptoms Laura was experiencing - excessive thirst and urination, rickets and dehydration, were the prime symptoms of infantile cystinosis. "I had never heard of cystinosis before," said Marybeth.

In February 1989, Marybeth and Larry Krummenacker admitted their 3-year-old daughter Laura to Winthrop University Hospital with what they believed was a serious bout of the flu. But when test results showed that Laura's kidney functions were extremely elevated and her potassium levels dangerously low, the Krummenackers knew something was more seriously wrong with their child. Months and many medical tests later, their suspicions were confirmed when a pediatric nephrologist (kidney specialist) informed the Hicksville parents that their youngest child had Infantile Nephropathic Cystinosis, a rare inherited disease that effects all major organs in the body.

According to the Cystinosis Research Network, of which Marybeth Krummenacker is a co-founder and current vice president of education/awareness, cystinosis is passed on by parents who both carry one defective gene and one normal gene. The recessive gene may lie dormant for many generations until the two people with the defective gene have children and pass the defective gene on to their child. Parents are unaware they are carriers of the defective gene until they pass it on and their child starts to demonstrate symptoms around 18 months to 2-years-old.

That's exactly what happened in the Krummenackers case. "Laura was normal birth weight and had a pretty normal first 15 months," said Marybeth. By age 2, doctors started to run tests, but nothing came back conclusive. It wasn't until Laura got sick at 3-years-old and wound up in the hospital that the Krummenackers began their journey of cystinosis.

Cystinosis is a metabolic disease that causes the amino acid cystine to accumulate in the kidneys, eyes, liver, muscles, pancreas, brain and white blood cells. The genetic mutation causes a defect in the transport of cystine out of the cells and the buildup of cystine crystals in tissues throughout the body causes the body's organs to malfunction and eventually fail.

There are three clinical forms of cystinosis: infantile nephropathic cystinosis, intermediate (juvenile) or late onset nephropathic cystinosis and benign non-nephropathic cystinosis. While infantile cystinosis is usually diagnosed between 6 and 18 months of age, the other two forms generally become apparent between adolescence and adulthood.

Following diagnosis, the Krummenackers were referred to the National Institute of Child Health and Human Development (NIH) in Maryland and in September 1989, Laura was accepted into the center's cystinosis research study. She returned home with six different medications, which had to be taken six times a day, like clockwork. In addition, Laura was also required to visit NIH's Clinical Center for lab work, blood tests, urine analysis and physicals, as well as medication adjustments every three to four months on top of routine checkups with local endocrinologists, ophthalmologists and pediatricians.

While the medication helped Laura, it also caused various side effects, including vomiting, nausea, headaches and cramps.

"When Laura was first diagnosed, we took her down to Maryland every three months and stayed there four or five days at a time. We did that for almost seven years. She was really a guinea pig. The medications she was taking [which were all in liquid-form at the time] were truly horrible," said Larry Krummenacker.

Like any child, Laura fought with her parents about taking the medication and at one point a G Tube had to be inserted in Laura's nose in order for her parents to inject the medicine into her. By the time she began attending the Woodland Elementary School, Laura was on liquid medications that were administered by the school nurse.

"I consider Laura's elementary school nurse Laura's guardian angel," said Marybeth. "I don't know where Laura would be today if she hadn't taken her under her wing and gotten her to start taking her medications on her own."

According to the Cystinosis Research Network's (CRN) website, with early detection and proper treatment, people with cystinosis can avoid serious health complications, such as end stage kidney and neurological damage. Although Laura was only 3 when she was diagnosed, the damage to her kidneys from cystinosis prior to diagnosis was enough to destroy both her kidneys. At the age of 12, Laura's kidney's started to fail and in September 1999, she underwent a kidney transplant at Montefiore Hospital in the Bronx thanks to a perfect match made possible through her father, Larry.

"I felt honored that I matched up to all [Laura's] points," said Larry.

Today, Laura, a senior at Hicksville High School, is on nine different medications, which she will have to take every day for the rest of her life. In addition, she still needs to monitor her lab levels every four months. While the disease will not affect the new kidney, the transplant is not a cure for cystinosis.

Currently, only about 2,000 individuals worldwide, with some 500 in the United States alone have been diagnosed with the disease. In addition to Laura, there is one other confirmed case of cystinosis in Hicksville with a handful of other confirmed cases throughout New York State. Unfortunately, due to the lack of awareness and education with the medical community, exact numbers are unknown because the disease is often undiagnosed and many children die before they are diagnosed.

As a result, CRN, an all volunteer, non-profit organization based in Burlington, MA, was established in 1996. CRN, which was formed by parents of children with the disease, is dedicated to finding a cure for cystinosis while improving the lives of those affected through education, research and support. The network's mission is to "support and encourage research to develop improved treatments and a cure for cystinosis; help families cope with cystinosis through information programs and support; and educate the public and medical community about cystinosis to ensure early diagnosis and appropriate treatment."

"We have to educate medical professionals. Doctors don't know how to treat the illness. We have to get to conferences and raise money to support research [and] at the same time, we are also providing family support." Marybeth added that in the past month, six new families have joined the network's online support group (www.cystinosis.org) and "these families are starved for information because doctors don't know what it is, but we do," she said. "Parents are the experts."

Marybeth added, "We are a group of parents with sick kids who are trying to make a difference not only in our lives but in the lives of everyone who is touched by this disease. Families need to know they are not alone and that cystinosis, which used to be a disease of despair, is now a disease of great hope and promise. That is what we constantly reinforce with our families."

Recently, CRN set out to raise $200,000 in seed money to fund two different research proposals over the next two years: a slow-release capsule (as opposed to taking one pill four times a day) and a neurological study of the "early intervention trail for visual processing deficit in cystinosis." To date, over $100,000 has been raised and, in an effort to bring the network closer to its goal, there have been various fundraisers held throughout the country.

"For me, research of a rare disease, or any disease for that matter, is such an important thing," said Larry. "People need to realize that we need to support research no matter what the disease. The key to finding a cure is research."

On a local front, the Cystinosis Research Network's 1st Annual Dinner Dance will take place on Saturday, Jan. 24 at the Milleridge Cottage in Jericho. "We are calling it 'Miracles at Milleridge,'" said Marybeth. "We believe miracles do happen and it is in the love of family and friends and the kindness of strangers that it very often does."

The cost of the dinner dance is $75 per person and includes a full-course dinner, entertainment and raffles, with all proceeds benefiting cystinosis research. Anyone interested in attending should contact Marybeth Krummenacker at 931-6785 or Nancy Rooney at 822-8412. For more information on cystinosis, visit www.cystinosis.org or call toll-free 1-866-276-3669.