THE VIRGINIAN-PILOT
Copyright (c) 1994, Landmark Communications, Inc.
DATE: TUESDAY, June 7, 1994 TAG: 9406070040
SECTION: DAILY BREAK PAGE: B1 EDITION: FINAL
SOURCE: BY DIANE TENNANT, STAFF WRITER
DATELINE: 940607 LENGTH: Long
But it wasn't until a few months ago, nearly four years after her birth, that they found the reason. And even now, they don't have a name for it.
{REST} Kendall Gilmer has a new disease, never before described in the scientific literature. Her doctors don't know what causes it or what will happen to her. They can make educated guesses, based on similar diseases. They can run multiple tests and search for other people who have a similar problem: a buildup of the body's wastes in the blood vessels around the nerves.
But for the most part, they search for the reason why.
Kendall lies on the floor of her mother's small apartment, laughing. She plays peek-a-boo with her dress and grins when the cat rubs against her.
Kendall cannot walk, cannot stand by herself. Her limbs are so stiff she has difficulty feeding herself. But she can laugh.
All of those actions puzzle the doctors. Kendall has a lysosomal storage disease. Other diseases in that category, such as Tay-Sachs, follow a predictable course, steadily progressing into worse and worse symptoms. Most of them are fatal.
But Kendall is progressing the other way.
``Most of them, they are fatal because it's a progressive disease,'' said Kendall's mother, Theresa Gilmer. ``That is why none of the doctors can understand why she's doing so well.
``She should be having seizures by now, more like failure to thrive.''
Until a year ago, movement, smells, noise were all sources of incredible discomfort to Kendall, and the slightest stimulation would cause her to scream and cry.
Her mother couldn't even cuddle her in comfort, because the slightest touch would send her daughter off again. A year ago, Kendall could not tolerate riding in a car for any distance without sedatives.
``The biggest thing from day to day has been her startle,'' Gilmer said. ``The least little sound, things we don't really notice, it would just be fiercely scary to her. She would be in her crib sleeping and I'd be in the other bedroom, and if I just turned over in bed, it would scare her and she'd wake up. If somebody yawned - anything.''
Such extreme reaction to minor stimuli sent Kendall's parents to neurologist L. Matthew Frank by the time she was 7 months old.
``It's a problem with the body's chemistry whereby end products are not satisfactorily eliminated,'' Frank said of Kendall's disease. ``What's unique about her is this material is building up in a very unusual cell . . . in the blood vessels that surround her nerves. . . .
``I think we were all very concerned that her course was going steadily downhill, but that's gotten under control with this new medication.''
Kendall has undergone a dramatic change for the better in just a few months.
``A year ago, if a car door closed two blocks away, she would cry and jump and be absolutely inconsolable,'' Frank said. ``She was just profoundly miserable all the time. To pick her up was to startle her and release a series of long crying bouts and stiffening and marked unhappiness.
``The medication she's taking now has calmed her considerably, and she's showing us much more developmental potential than we thought she had.''
As an infant, Kendall only liked toys that were smooth and hard. Other textures made her cry. Changing her clothes was like torture. She couldn't stand being in a bath.
Now she likes toys that make noises, and the feel of her cat rubbing against her. She loves the beach and her new hot-pink wheelchair. She goes to preschool.
Kendall still panics if she rolls over on her back, because she can't roll the other way. Panic leads to hyperventilation. She insists on wearing socks all the time. Her skin, for some reason, has dark blotches all over it.
But, in the past few months, she has become much less sensitive to her environment, which makes her happier and easier to care for.
``A lot of the first two years are kind of a blur because when it's something that even the doctors don't know about, they don't know what to tell you,'' Gilmer said. ``For normal kids, you know what they should be doing at certain ages. When you have a child like this, there are no books to help you.''
For the longest time, doctors were baffled by the child's condition. Doctors ran test after test, each time expecting to learn the cause of her problems. Each time, the tests turned up nothing.
Finally, a nerve biopsy a few months ago turned up the lysosomal storage problem. But because it is in such an unexpected place in Kendall's body, and because doctors don't know the underlying biochemical processes, there is still much work to be done.
``We're really looking at a very unique tissue that one wouldn't have thought would be the problem,'' Frank said.
He hopes to begin working this fall with some larger medical groups in hope that somewhere, someone has seen a disease like Kendall's. If more patients with this disease are found, it is more likely that researchers will begin seeking the cause and possible solutions.
``It's very possible that somebody else has seen something like this and hasn't reported it or talked about it,'' Frank explained. ``To go after the biochemical basis for this is a major undertaking. If it turns out it's just Kendall, it's going to be hard to find somebody to do that.''
In the meantime, her mother stays home to provide the full-time care that Kendall needs. As her daughter progresses into longer school days, she hopes to find a job again. Until then, she revels in being able to finally sleep through the night and in the personality her daughter is finally revealing.
And she loves to hear her laugh.
by CNB