Family sells home to move here, hoping for cure

September 11, 1991|By Sue Miller | Sue Miller,Evening Sun Staff

Audrey Peter gently stroked the brow of her 5-year-old son, Robert, as he slipped in and out of a state of coma in the pediatric intensive care unit on the seventh floor of the Johns Hopkins Children's Center.

Robert looks robust and healthy despite many life-saving tubes and monitoring devices attached to his small body. Sometimes, he peers out from under heavy lids. But, he is very sick, battling an episode linked to an extremely rare and puzzling metabolic disease.

Worldwide, there have been no more than 50 cases of the disorder, which is characterized by a defective enzyme that is unable to go through chemical changes to break down protein to make energy, experts say.

And, under certain conditions, high levels of a chemical are produced that appears to be toxic to the nervous system and seems to injure the part that is most important for controlling movement, they say.

Robert's 3-year-old sister, Claire, suffers from the same inherited disorder, which kills some its victims early while it allows others to live into adulthood.

They are the only children of Audrey and Martin Peter, both 37, who about five months ago sold their home and other possessions and left their friends, families and jobs in Johannesburg, South Africa, to pin their hopes for remedies on specialists at the internationally renowned Johns Hopkins Hospital and Kennedy Institute in Baltimore.

"For almost two years, before coming here, we stood by watching our children's condition deteriorate," Martin Peter, an accountant in Johannesburg for 15 years, said yesterday. "In South Africa, there were no facilities to treat our children and the local doctors' views were pessimistic."

Episodes of the disease, known as 2-ketoadipic aciduria, are triggered by some kind of stress, such as colds, infections or anything that stops those affected from eating, according to specialists. Production of the harmful chemical, ketoadipic acid, speeds up during the fasting states, they said.

Normally, the disease is kept under control by a low protein diet, restricted mainly to vegetables and fruits.

Now, Robert is struggling through his second severe episode; Claire has had one.

In the past, these shattering events have led to seizures and coma for both children, resulting in vision loss, some of which has been reversed, paralysis on the right side and devastating speech and motor problems.

Neither Robert nor Claire can walk or talk, but tests have shown they both understand everything they hear, their doctors said.

"It is too early to say how Robert will be affected by this second experience with coma," said Dr. David G. Nichols, director of the pediatric intensive care unit. "He has improved over the last few days and we've taken him off the respirator. Before that, he was deeply comatose and even his gag-reflex was only intermittently present."

The initial episodes have left the Peter children with frequent seizures, the specialists said.

"What we can't tell at this point is how much of their current problems are purely due to the seizures -- basically a brain injury -- that they've had because of their metabolic disease, or how much of their getting sick is from the chemical, ketoadipic acid," said Dr. Richard I. Kelley, a Kennedy Institute pediatric metabolic expert.

"They are taking thiamine, a B-1 vitamin which can sometimes activate a weak enzyme, and we think that it has lessened their biochemical abnormality."

Meanwhile, the Peters are down to their last $1,000 and worried about the future, which could mean many years of continuing problems and expensive treatments for Robert and Claire.

Nichols said that even though hospitals face financially precarious times, Hopkins has not changed its policy to serve children with needs.

"We are here to help children and we are not concerned with the family's ability to pay," Nichols said. "And, if the family needs financial assistance, there are outlets and institutions that can 00 help. The solution will be found. The idea is to take care of the children."

The children's problems at times seem overwhelming, Audrey Peter said, adding, "It's the kind of situation that could drive a person crazy."

Her husband interrupted to say, "But God has placed us in this drama for a purpose and it will work out . . . Of that, I'm sure."

The Peters, who said they want to become citizens here, are in this country under a visitors' visa. This does not permit them to work.

But, that hasn't stopped Martin Peter from answering ads seeking accountants, hoping the promise of a job could somehow make it easier for him to obtain a work permit. He said he also has asked the U.S. Department of Labor and Mayor Kurt L. Schmoke's office for assistance.

"But, perhaps I need to go back to the immigration officials," he said. "Perhaps I have gone about this in the opposite direction."

Audrey Peter has been focusing much of her energy on getting Claire placed in one of the city's schools for children with special needs. This would provide the smiling and seemingly happy toddler with physical, occupational and motor skills therapy on a daily basis plus special bus transportation to and from her home in the Ten Hills area and her assigned school.

"Claire's assessment by school officials is nearing completion," Audrey Peter said. "She has to go back one more time. We should know something soon."

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