By Doug Brunk, San Diego Bureau
It's been 10 years since Elyse May was born with congenital adrenal hyperplasia, but her mother, Michelle May, M.D., remembers the experience as if it were yesterday.
Dr. May suspected that her daughter had congenital adrenal hyperplasia, but adrenal disorders “are not my area of specialty, so my husband ran to the medical library for books that might help,” recalled Dr. May, a family physician who practices in Phoenix, Ariz. “There I was, having given birth about 12 hours before and reading medical textbooks in my hospital bed.”
Once the diagnosis was confirmed, Dr. May and Elyse were discharged home without starting treatment. The endocrinologist told her it was unclear whether Elyse had the mild form of the disease or the severe form. “He said that if we started to treat the mild form, it would mask the severe form,” Dr. May said. Then the endocrinologist went out of town.
Once home, Elyse began vomiting and she became jaundiced and dehydrated. “By the time they decided to start her on the steroids, she was so sick that we put her in the hospital for 3 days,” Dr. May said. “I couldn't get anyone to listen to me about how sick she was until I finally begged them to let me take her into the hospital. The doctor there said that she probably could have died within 12 hours.”
Today, Elyse manages her condition by taking oral steroids three times daily. She wears a MedicAlert bracelet that attracts interest from her peers at school.
“Kids are starting to ask, 'Why do you wear that?'” Dr. May said. “She doesn't want to stand out. She doesn't want to be different. Because of the nature of her condition, if she goes to a sleepover or a birthday party, I have to let parents and other caretakers know about the potential seriousness if she does become ill or injured. I tell them you have to make a double effort to notify us if something happens because she could die of this if she's not treated appropriately.”
Although the prognosis is excellent for Elyse “as long as she never has an adrenal crisis that is mismanaged, we still have to make sure we do the follow-up appointments and the routine blood work,” Dr. May said. “I am now more empathetic to patients who have chronic medical conditions that require a lot of attention. It's easy to get into a role of complacency, or you get busy and you don't do what you should right on time.”
Mark Heinz-Graham has a different set of special needs. Born with a moderate range of intellectual functioning, the 27-year-old currently reads at the pre-first grade level, “although he's very motivated to learn how to read,” said his mother, Lee Combrinck-Graham, M.D., a psychiatrist who practices in Fairfield County, Conn. “In fact, he has just started with a reading teacher who hopes that now that he is an adult, there are more strategies for helping him to learn. Numbers are elusive [to Mark]. Math is not in his repertoire.”
She noted that Mark relishes his full-time job as a grocery store bagger. He also likes to watch TV, play computer games, swim, play the drums, and listen to opera. “He's also in an art class,” she said. “He's learning to be more deliberate, careful, and thoughtful.”
She said the most difficult part about having a child with special needs is observing the social isolation that occurs. “For example, they can go to a birthday party with regular kids or with special-needs kids. But somehow their participation in it or their 'getting it' is at a different level, so they're sort of on the fringes,” Dr. Combrinck-Graham explained.
“If you have a birthday party with six special-needs 6-year-olds, they're all into their own thing. So it's not really a social occasion except they're there and the parents are whooping it up.”
She added that families of special-needs children “shouldn't feel ashamed or try to hide their kid and shouldn't feel reluctant to invite people in to help. For instance, Mark is fairly independent. Sometimes we go away overnight and might say to one of our friends, 'Would you give him a call and say hi and see if he's alright?' Or sometimes when we go away someone will stay with him in the house. We do this so he has a larger circle of people paying attention to him while we're away.”
Elisa Nicholas, M.D., reiterated the importance of focusing on the assets of a child with special needs. But she pointed out that the competitive, achievement-focused culture of medicine can pose a challenge to that effort.