A Purpose in Tragedy : Parents of Leigh’s Disease Victim Are Hoping Their Son Won’t Die in Vain

When Jacob Johnson was 3 weeks old, he used to lift his head up to get a good look at the world.

There is a photograph of him at that age, with a cocky expression on his face, that his parents cherish very much. His skinny arms folded just so, he looks as if he should be wearing a top hat, at an angle befitting a cad.

This baby in the photograph looks like he’ll be a lot of laughs when he grows up.

Lauren and Marshall Johnson, Jacob’s parents, show me this picture to illustrate what the term degenerative disease really means to them, on a level deeper than words. There are many such diseases on the medical books, with names that hardly anyone has ever heard of, until they have a need to know.

Leigh’s disease, an extremely rare disorder of the central nervous system, is one that the Johnsons know about now. They found out about it mostly on their own, in that way that desperation often leads you, even when you know that the answer you’ll find might tear at your soul.

Jacob is lying in his father’s arms now, at home in Rancho Santa Margarita, awake and very still. He cannot walk, or sit, or hold his head up, or roll over. He doesn’t cry anymore, at all. That stopped at about six months.

Once, Jacob used to smile. Bright lights used to make his eyes dance with wonder. That, too, is no more. Leigh’s robs its victims of muscle control. Ultimately, a disturbance of the body’s energy metabolism destroys the cells of the brain.

Jacob, now 17 months old, is expected to die soon. He is the Johnsons’ only child.

“We just hope and pray that when the Lord wants to take him, we don’t have to go through all the procedures, respirators and such,” Marshall says. “If anything, we don’t want him to suffer.”

So now the Johnsons wait.

“There is a purpose to this,” Lauren says. “We might not know the purpose today. And it may be painful today. But this might be preparing us for something down the road.”

Still, the agony of watching her baby die shows clearly in the tears that wash across this mother’s eyes. She talks of the isolation of not knowing other parents who are experiencing similar pain.

She tried attending support groups for parents with a disabled child, but for most of those families, there was some kind of hope.

“A lot of them were Down’s syndrome children,” she says. “That is very different. They can get involved with physical therapy. There are many things they can do. . . . Then I got involved in a different group, but I stopped going there too.

“There are a lot of things that we go through that are similar to other parents, but it’s different too. I found that I was trying to help the others out. I would come home emotionally drained, and my emotional needs weren’t being met. It’s easier just to stay home.”

Yet the Johnsons--he is an architect and she takes full-time care of their son--stress that they are not “giving up.” Jacob is a gift, a little boy loved by many, whose life has not been a waste. His very existence, the Johnsons say, has strengthened their faith in God.

Perhaps Jacob inherited Leigh’s from one of his parents’ genes. This, still, the Johnsons do not know; they are awaiting tests on their blood. While Lauren was pregnant, no prenatal testing was done. There seemed to be no need.

As far as they know, neither Lauren, 26, nor Marshall, 31, have a family history of Leigh’s. But because of the risk of passing on the disease, the Johnsons say they will bear no more children of their own.

And even if prenatal tests had been done with Jacob, it is unlikely that Leigh’s would have shown. Most physicians have never seen a case in their entire medical careers. There is no known treatment for Leigh’s, which usually strikes the young. Research into the disease is almost nil.

Jacob’s condition was finally diagnosed during a visit in January to the nation’s leading specialist on Leigh’s disorder, Dr. Darryl DeVivo, in New York. Lauren asked him how long her son might live.

“All that he told me was he was very progressed in the disorder,” she says.

Now, the couple wrestles with the dilemma about what to do with Jacob’s body after he dies.

Because Leigh’s disease is so rare, funding for research is scarce. The only way to make a definitive diagnosis of the disease, and study its effects, is with a brain biopsy after death. Dr. DeVivo told the couple he would perform it himself. The costs of all this would be the Johnsons’ to bear.

“I personally would like to have Jacob studied so that Jacob’s life isn’t in vain,” Lauren says. “I want to help other children. On the other hand, we have been so frustrated with all the doctors. . . .”

She mentions the attitudes and offhanded comments, such as a doctor’s suggestion that they might want to insert a feeding tube in Jacob’s stomach “for our convenience,” that hurt.

“It’s kind of a Catch-22,” Marshall adds. “We want further study for other people, but how far do you go with these doctors? We don’t want them to treat him like a specimen. He is a human being.”

This is why the Johnsons say they got in touch with me. They wonder if there is another family out there who has gone through a similar, agonizing medical maze, if there is another family with few places to turn.

“If there had been a story for us to read. . . .” Marshall says.

”. . . We would have been jumping up and down,” Lauren adds, finishing his thought.

“We could crawl into a closet and ignore society and have a pity party,” Marshall goes on. “But we don’t want to do that. We want to try and help someone else.”