A Death Sentence Too Small to Note : Medicine: A few hundred American children are afflicted with a fatal syndrome that lacks a research constituency.
I know a 5-year-old boy. His name is Petey. He is my son. He is also known as a “Sanfilippo’s child.”
Several hundred children in the United States are brothers and sisters through Dr. Juan Sanfilippo, discoverer of this rare genetic disorder. While the affliction takes numerous forms, the ultimate prognosis is unbending: a vegetative state and death before the age of 20, usually from aspiration pneumonia.
A Sanfilippo’s child’s infancy is unremarkable, with normal mental growth recorded through roughly the second year. Thereafter, mental retardation becomes detectable. The brain damage progresses.
Typically, at age 10 or so, Sanfilippo’s children must leave their family homes, never to return.
Currently, no treatment is available, not even to abate any of the symptoms. Due to giant strides made recently in genetic research, however, an actual cure hangs tantalizingly before Sanfilippo’s parents--”in the not too distant future.”
“Not too distant” for whom?
That Sanfilippo’s syndrome is so rare is the curse. It isn’t cost-effective for enough teams of doctors and chemists to devote their careers to the cause. We can only be thankful for those who do. It takes guts these days to research apolitical diseases.
Petey was diagnosed with Sanfilippo’s syndrome in the summer of his fifth year of life. Little did anyone know that he was perhaps approaching “middle age” for a Sanfilippo’s child. He was handsome and sweet-tempered, very loving toward his family. But his speech wasn’t clear, his walk wasn’t stable and he seemed to be acquiring fewer and fewer skills, so testing was done. And, given the tragic results, the tests were repeated. The tests did not lie.
“Petey,” as it happens, is the very name I went by for my first 11 years. “Paul” sounded just too mature for a child to my parents’ ears. So the initials P.T. (for Paul Thomas) were found to suit the bill.
It has been 25 years since I have carried the moniker, but when I see my son’s face, I behold that “distant mirror” that gives us parents our immortality. When I peer into his eyes, I see the sweetest heart, the gentlest soul, the most enthusiastic and innocent human being I have ever known. And yet I must steel myself for giving him up, for he is Sanfilippo’s child, too.
The doctors report that finding a therapy is inevitable--if funding continues. But, as if to shake parents from an optimistic dream, they somberly advise that it “will not come in time for your child.”
Sanfilippo parents are asked to do the right thing: to be active in fund-raising, to support the medical effort, even though it is not likely our children can be saved. It is a battle, we’re told, that we must fight for others. Like an 18-year-old who is asked to take up arms for his countrymen, for the sons and daughters of others because he will never have a son or daughter, we must do our duty.
And yet we secretly harbor a hope. If only enough money is raised, if only the right break in genetic therapy comes, if only our children stay healthy and do not reach the point of no return. These “ifs” are what keep some of us going.
There are heroes and heroines in the national parents organization. We the wistful are not the brave. We the hopers are not the champions. The true greats are the parents who have lost a son or daughter, and in many cases multiple children, to Sanfilippo and yet remain steadfast and devoted to the cause.
I don’t want to be a hero. For selfish and selfless reasons alike, I want only to have Petey back. Sanfilippo has claimed him for long enough. He belongs with Daddy.
