11/1/98

Family searches for solutions in daughter's rare disorder

By Genna McLaughlin

TRIBUNE-REVIEW

What do you do when all your hopes and dreams for your child are taken away in minutes by the diagnosis of a disease that kills in a few years?

If you're Debi Thompson, you listen in horror as doctors explain the rare but fatal disorder - metachromatic leukodystrophy - that will take your daughter's ability to walk, then to talk, then to swallow; that eventually will take her life as you watch, unable to do anything.

Then you ignore them.

You take medical leave from your job, borrow money to travel to a Mexican hospital, scour the Internet for information that you organize in binders with neat subsections.

You call the doctor and beg her to tell you it was all a nightmare - anything but give up fighting for a 3-year-old whose deep brown eyes are mirror images of your own, only without the fear and understanding of what is happening.

"As a mother, the main thing you do is protect your children," said Thompson, as her eyes filled with tears at her Jeannette home. "(Doctors) want to tell you they're not going to do anything, that there's nothing you can do, and that should be acceptable?"

When Jessica Thompson started having problems walking seven months ago, Debi and David Thompson thought she might be pigeon-toed. When she had occasional accidents without telling them she had to go to the bathroom, they thought it was normal for a newly potty-trained toddler. When she started falling down all the time, they took her to Children's Hospital of Pittsburgh in Oakland.

David Thompson can't remember exactly what he was thinking that moment last month when he was told he would never walk his only daughter down the aisle. He was in the doctor's office holding Jessica tightly and trying to calm his hysterical wife. He only remembers hoping the doctors were preparing them with a "worst-case scenario."

But there are no favorable scenarios with the infantile form of metachromatic leukodystrophy - a genetic disorder that afflicts approximately one in 5,000 people.

"There have been situations where there have been relatively prolonged plateaus," said Dr. Patricia Crumrine, a pediatric neurologist at Children's Hospital of Pittsburgh. "But there is going to be a continued deterioration of the child's level of functioning. They will ultimately require total care for feeding and certainly there is the potential for early death."

The genetic disorder destroys the white matter of the brain. According to Crumrine, the infantile form usually is diagnosed between the ages of 2 and 3 and results in death before the teen-age years.

"At this point there aren't any definite curative treatments," said Crumrine. "We use supportive types of therapies, making sure that the family has adequate equipment for transportation and feeding for the children."

But no one who knows Jessica is giving up.

The Thompsons are searching the world for experiments being conducted on the deadly disorder or alternative medical treatments that may in some way slow the progression - no matter the expense. A recent trip to a hospital in Mexico cost the Thompsons close to $10,000. The couple is in danger of losing their home, said Debi Thompson.

Fund-raisers for the Jessica Thompson Hope Fund are helping the Thompsons, who also have an 11-year-old son, Bobby. There are so many candle sales, car washes and cookbook sales being run independently by friends and family, Debi Thompson can't keep track of them. A benefit dance for Jessica is planned for Nov. 14 at the Grapeville Fire Department.

At 9 every Friday night, a group gathers at the Grapeville Fire Department to discuss ways to raise money. The latest meeting attracted close to 50 people.

The Thompsons may spend everything they have on every medical treatment out there. But giving up hope and sitting by as Jessica loses everything is not an option.

They won't wait patiently for the moment when Jessica, who already has lost the energy to play with friends and cousins, stops enjoying her Barney videos or just can't see them anymore.

"No one has ever accepted that we're not going to find something," said Bob Bickerstaff, Jessica's grandfather.

But there have been others who thought the same way.

Like a woman in White Plains, N.Y., whose son suffered from the same disease. She sympathized with Debi Thompson when they spoke on the phone. She had done the same for her son before he died at the age of 4.

"It hurts to know the truth," said Thompson, letting the tears roll down her face. "We feel maybe (Jessica) will be the one they find a cure for. But this woman had the same thoughts that her son would be the one. What makes us any different?"

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IF YOU GO:

A benefit dance for Hope for Jessica will be held 8 p.m. Nov. 14 at the Grapeville Firehall. Tickets are $5 and can be purchased at the door. Any donations to Jessica Thompson c/o Hope for Jessica can be sent to David and Debi Thompson, 911 N. Third St., Jeannette, PA 15644.