Family learning to deal with genetic problem

Regina McNelis has learned to be assertive without taking a course or reading books. That's because her daughter's rare genetic disorder has taught her how to get what she wants out of life.

"I wouldn't have been this bold," Mrs. McNelis said, had her eight-year-old daughter Catherine not been born with Ectodermal Dysplasias, a rare genetic disorder. Mrs. McNelis works with the Albany Diocesan Drug Education Ministry.

E.D. affects the teeth, hair, skin and sweat glands, according to Jodi Reinhardt of the National Foundation for Ectodermal Dysplasias.

Risks of damage

Children with the disorder are born with non-functioning or completely missing sweat glands. Since they are unable to cool themselves, they are at greater risk of heat exhaustion, which can lead to brain damage or even death.

Other characteristics include sparse hair or baldness, fair skin that is sensitive to sunlight, and few or no teeth. Some children also have sight and hearing problems as well as affected mucus and mammary glands.

"They have a certain look," Ms. Reinhardt said. "You can recognize it." The distinguishing characteristics include a caved-in mouth, sparse or no hair, a saddle nose, and no eyelashes or eyebrows.

Early stages

Mrs. McNelis and her husband Scott, who attend St. Vincent de Paul Church in Albany, first noticed the disorder when Catherine's teeth were coming in. They were small and triangular with no enamel.

While her doctor told her not to worry, Mrs. McNelis persevered. After four teeth came in that way, the McNelis family learned of E.D. "If I hadn't hounded that first pediatrician, we wouldn't have known," Mrs. McNelis said.

Catherine has a mild form of this disorder, with her teeth being primarily affected. She did have some baby teeth come in, so she has yet to need dentures. Many E.D. children require full dentures by age three, said the mother.

"Catherine is perfect," said Mrs. McNelis. "God couldn't give me a more perfect baby."

Adjusting

While the family did have scares, like Catherine's first fever, life is pretty routine for them. The family, like other families affected by E.D., must carry water and cloths with them where ever they go to help Catherine cool off.

Catherine's disorder has helped the family count its blessings. "It made me realize how lucky we are," said Mrs. McNelis.

Faith has always played an important role in her life and served an important purpose when Catherine was first diagnosed. "I always knew God was there," she said of the time the family first learned of the disorder. "I had a strong faith. [The diagnosis] made me rely on it."

Filling their needs

The McNelis family has moved several times in Catherine's life, most recently to Guilderland after several years on Long Island. Each time they moved, Mrs. McNelis had to put her new-found assertiveness to work.

"I find a teaching hospital, find the head of pediatric dentistry and wiggle my way in," Mrs. McNelis said.

That is important because the disorder is so rare that many doctors don't even know about it. "The patient educates the doctors," Ms. Reinhardt said. "It's impossible for healthcare providers to keep on top of all of the disorders out there."

Goals

Mrs. McNelis hopes that some good can come out of this disorder. "Catherine knows she's a little different, but it's okay," the mother said. "I hope it's made her aware, and a better, kinder person. I hope in the long run it benefits Catherine."

Mrs. McNelis's new goal is to help parents whose children are diagnosed with E.D. She recalls it was difficult when Catherine was first diagnosed because there was little information available; what was published discussed only the most severe cases.

After connecting with the National Foundation for Ectodermal Dysplasias, Mrs. McNelis found comfort. "They have hearts of gold," she said of the people she has met with the disorder.

The emotional support provided by the foundation has also been helpful. "They are my life-savers," she said.

(For more information on E.D., contact the National Foundation for Ectodermal Dysplasias at 616-566-2020 or e-mail the organization at [email protected].)

(03-06-97) [[In-content Ad]]