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A Special Kind of Love

When my daughter wendy was 4, she was diagnosed with moderate hearing loss. What you and I hear as ordinary conversation she hears as a whisper. Unfortunately, it's not just a simple question of turning up the volume. She loses parts of words entirely, most often initial or final consonants. For at least two years, Wendy had been living in a quiet and confusing world, struggling on her own to fill in those missing sounds. Somehow she taught herself to speak quite clearly, well enough that neither her parents nor her teachers realized what was wrong.

No one knows what damaged Wendy's hearing. Maybe it was a virus, maybe a blow to the head. I've lain awake many nights, wondering whether I could have saved my child from this disability if only I had been smarter, more attentive, more vigilant. Suddenly my husband and I were thrown into a complicated and sometimes maddening world of audiologists, ear specialists, speech pathologists, federal laws on disability. We were confronted with the fragility of hearing aids, which cost as much as $5,000 and can be ruined if you're caught in a sudden downpour. They're designed to be worn by grown-ups who don't do cartwheels or use finger paint.

We weren't alone, of course; when any family has a disabled child  -- particularly one who is seriously impaired, more so than Wendy  -- they find that life has changed irrevocably and forever. The parents' hopes and dreams for their beloved children are altered, as are marriages, careers, friendships, and virtually every aspect of their days.

Gay Daly is a senior editor at Discover magazine.

The Diagnosis

The shock of discovery comes in many forms. For Paula and Jerry Hesch of Miami, the warning was sounded when their son, Jason, was still in utero. Ultrasound measurements showed that he was too small, and so the pregnancy was closely watched. At eight months, he was delivered by emergency c-section, weighing two and three-quarter pounds. Once he was born, the Hesches began to relax, assuming that he had just been a premature baby who started out small. But despite the fact that his parents fed him constantly, Jason remained little. At 6 months, he weighed about eight pounds.

So on their pediatrician's recommendation, the Hesches sought out specialists, who did an endocrinologic workup and found that Jason had Bloom's syndrome, an extremely rare growth disorder that predisposes to cancer. "I began to realize," says Paula Hesch, "that I'd be facing a different challenge than other mothers face."

For some families, the route to diagnosis is even less straightforward. Ashley Appell, who lives with her family in Oyster Bay Cove, NY, was diagnosed with albinism and vision loss at her two-week well-baby visit. "I remember this as the time when it started to become difficult for me to breathe," says her mother, Donna.

When Ashley began to walk, she bruised badly and often, but the pediatrician dismissed Appell's concerns as those of a worried mom and told her to relax. Dissatisfied, she read up on albinism and came across a book coauthored by a dentist who specialized in genetic diseases. It mentioned Hermansky-Pudlak syndrome, a rare variant of albinism that can cause a host of problems, including a platelet defect, severe bruising, pulmonary fibrosis, and heart and kidney disease. Appell called the dentist in Minnesota, and he asked her to send him a test tube of Ashley's blood by overnight air express. The next day, he called back with the news that Ashley had tested positive for the syndrome.

Perhaps the hardest answer is no answer at all. Kimberly Leitke was a plump, cheerful infant, but when she was a few months old, her parents began to notice worrisome signs: She was too floppy; she lagged behind the baby across the street who was the same age. Then at 9 months, she had a seizure in the car on the way to her uncle's house. And 13 years later, she is still plagued by seizures, even though she takes four different medications every day in an attempt to prevent them. Today she speaks only three words, and she rides around in a wheelchair in her Patchogue, NY, home because she can't move her arms and legs.

Despite the best efforts of a fleet of pediatric specialists over many years, the Leitkes have never received a meaningful diagnosis for Kimberly. Her mother, Carolyn, manages to joke about what is clearly a subject of anguish. "You know those necklaces that have the person's name written in gold? We're going to get one for Kimberly with 'Enigma' written on it."

No matter how long it takes to get a diagnosis  -- or fail to get one  -- each family is then plunged into a whirlwind of doctors, specialists, hospitals, and lab tests. Most parents become highly knowledgeable about their child's disability. Donna Appell was asked to lead medical grand rounds at a hospital, speaking to attending doctors and residents as a clinical expert on Hermansky-Pudlak syndrome, and she's aware of many parents who are as well informed as she is. "They know that disease and that child better than any physician," she says. "They learn through experience rather than books."

Their knowledge is hard-won. Once a handicap is identified, parents must learn to make informed medical decisions that may affect whether their child survives, and they become masters at navigating the potentially perilous doctor-patient relationship. Stories abound of the physician who never speaks to the child or who never looks the mother or father in the eye. But every parent interviewed said that there are also excellent doctors who earned their trust. Finding the right one is the parents' job.

Once your child is in the hospital, as Donna Appell explains, "some of it is out of your control. What is in your control is getting to the right place and the right doctor." In the world of managed care, many people feel that they have no say in their choice of physicians; the experience of parents with disabled children teaches us that we need to fight for that right.

Family Life Transformed

Simple activities that most people take for granted can become an ordeal for a family with a physically challenged child. The Leitkes love to go to the beach, but they've learned that there are at least three reasons they have to leave Kimberly at home with a caregiver: Wheelchairs can't navigate through the sand, even a little sun may make Kimberly ill, and there's no discreet way to diaper an 80-pound child on the beach.

When a child is seriously disabled, vacations must be planned as carefully as the D-day invasion, but all the planning in the world may not help. When Ashley Appell was 8, her family tried to take her on an overnight cruise off Long Island in their 28-foot boat. At this young age, she already had osteoporosis from taking steroids. As the boat rose over a little wave and then fell, she bounced and screamed, "I broke my back!" She was right.

Her parents panicked, but then years of discipline kicked in. They spotted a red cross on a dock nearby and moored the boat there. The local hospital was located on the water, and her father dashed into the emergency room. "The doctor came down," says Donna Appell, "and we're on this little boat, and I have my binder with Ashley's medical history and my digital blood-pressure cuff, a stethoscope, a cooler full of medicines, and I'm organized for god knows whatever. The doctor walks into this little cabin to examine Ashley, and I hand him the medical history, and he's whipping through it and looks at me and goes, 'Why the hell do you have this kid on a boat?' I say, 'We're trying to be a family!' He thinks we're total lunatics at this point."

The fire department came to take Ashley off the boat, and within hours her parents had gotten her to her regular hospital, where she made a good recovery. Now Appell says, laughing, "So we vacation  -- with challenges."

Every parent I spoke with was exquisitely sensitive to how the other siblings relate to the disabled child. Paula Hesch foresaw that Jason's sister, Dana, who is four years younger, might well be tempted to tease him about being smaller than other kids, including herself. So when she felt that Dana was old enough, Hesch says, "I sat down and explained to her that there are all different types of people in the world, tall people and small people, and we all have to learn to get along together." Now, says Hesch, "Dana and Jason squabble like typical kids, but she doesn't use Jason's size as bait."

Carolyn Leitke worries that Kimberly's sister, Danielle, had to become independent at too young an age because Leitke was so busy with Kimberly's countless medical needs. But the saddest loss of all for Danielle, in Leitke's eyes, is the loss of a playmate, the little sister who should have been tagging along behind her, playing Barbies, riding bikes, sharing everything.

Disabilities can also challenge  -- or even end  -- relationships with relatives and friends. After Kimberly was hospitalized a number of times, Carolyn Leitke started to get the brush-off from certain friends when she called them. "Very quickly, it all becomes matter-of-fact that you're in the hospital again. You don't get the toys and the flowers and the cards. Yet that fifth hospitalization in six months is far worse, and you're more tired and you need more comforting." Over the years, Leitke has found a small number of friends who are in it with her for the long haul. "With a child like Kimberly, you have to pare down your social group to people who can accept all that you come with  -- and you come with a large package."

Sustaining a Marriage

There is a sentimental notion that a child's illness or disability brings a couple together and makes their marriage stronger and closer. In fact, many marriages are destroyed by the overwhelming heartbreak and relentless demands of a child's handicap. All marriages are changed by it. Leitke, like the mothers of so many severely handicapped children, can't work because meeting Kimberly's medical needs is more than a full-time job. She and her husband, Charles, soon learned that even with excellent insurance coverage, there were huge bills left to pay. So her husband had to go into overdrive and make more money. This unexpected division of labor is sad to Leitke because it has meant that they're not going through life "side by side," as they had envisioned.

The Appells went through a rough time some years ago. Donna had to go part-time at her job because it was becoming impossible to find childcare. "I resented my husband's climb up that corporate ladder," she says. "I was angry at him for not being in this fifty-fifty relationship that we'd expected to have. I was frustrated that he wasn't sharing the medical decisions."

But then she realized that her husband couldn't participate in all those decisions because they made him too sad. Besides, when he got home at the end of the day, "it would be like walking inside a merry-go-round. You don't know what's going on because it's been going on all day," says Donna Appell. "The thing that came to me was that my work is at home, and my husband is working just as hard as I am but at a different job. I began to get a grip on trying to save Ashley's life. That was my job."

Coming to Terms

Most parents of handicapped children live with the burden of guilt. Guilt that siblings may have been neglected, that seeking a diagnosis earlier or more aggressively might have made a difference, that spouses' needs are not met, that one's own genes harmed the child he or she lives to protect. "Guilt drives my entire breath," Donna Appell says. "I can't get over the fact that I caused this genetic defect in my child. I probably will never get over that fact."

But rather than let her guilt paralyze her, she decided to use it as a motivating force to help find a cure for Ashley and other children with Hermansky-Pudlak syndrome. She started the HPS Network, a registry and database, and with her help, several hundred cases in the U.S. and Puerto Rico (where there's a large genetic cluster) have been identified. She began this work because she realized that no one was ever going to study a "small little stupid disease" endured by a handful of people. Because of her persistence, the National Institutes of Health are now running two research protocols designed to understand and treat the syndrome.

Families with a disabled child make extraordinary efforts to care for their kids and to make sense of the manifold ways in which their lives have changed. They find ways to feel joy and to take pride in even the smallest victories. But when asked whether she had accepted the fact of Ashley's illness, Appell said, "There's no such thing as acceptance. You don't travel this linear path. You just learn to shoulder the responsibility. I cry every day." I told Appell that I saw my daughter's handicap as minor in light of the medical ordeal that Ashley has endured. Her response: "That's not minor  -- nothing's minor. Nobody's illness or disability or issues are worse or harder than anybody else's. You can't compare pain to pain, suffering to suffering. Your daughter's hearing loss is terrible; it's difficult and sad. Everybody's pain is pain."

This was Appell's gift to me, and I accept it. But I still believe there are degrees of suffering, even if one cannot judge the extent of someone else's suffering or pain. It is much harder to live through more than 60 hospitalizations, as Ashley has  -- a feat she has performed with grace and courage  -- than it is to put hearing aids in your ears every morning when you wake up.

Recently, my daughter asked, "Mom, if you were a little spirit waiting to be born and you had to pick a disease, what disease would you pick?" When I said I wasn't sure, she replied, "I probably would pick hearing aids because that would be the most easy." This was my daughter's gift to me.

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