I am writing to ask you to include medical foods for the treatment of phenylketonuria, PKU, and similar inborn errors of metabolism as an essential health benefit under the chronic disease management category.
Has Genetics, a relatively new field of science, ever improved the public health? I will argue that is has, and that it must.
I am the mother of two children with PKU, a metabolic disorder they inherited from me. I’m also a Geneticist. In choosing my field, I saw promise in Genetics. Promise of harnessing molecular knowledge for good, in agriculture, in medicine. One triumph of Genetics is the universal newborn screening in the US where I live, and in many countries around the world. Screening allows us to find inherited metabolic disorders. And we find them before they have the chance to forever limit the life of the newborn child.
A simple heel prick, a drop of blood, a quick test tells us a story. It is the story of whether the baby who is healthy now, will stay health and thrive on breast milk or whether the baby may need a special diet in order to remain healthy. This is the story of the future of the newborn.
For some, and certainly for me, newborn screening has been seen as a kind of tragic miracle. The entire life may hang in the balance of special diet’s cost. The promise of Genetics and the miracle of newborn screening are followed quickly by frustration and later despair, when the family of the baby cannot afford treatment. Does this happen? Yes, all the time, as quick look at the PKU websites and family stories shows. In these cases we name the gene, the disorder, the prognosis, but provide neither the prevention nor the cure.
And now, today, this very issue is now before the HHS, in creating our future healthcare reform. Will the treatment of the inherited diseases like PKU that we now identify in newborns be covered, or not? It is not yet decided.
The advance of newborn screening was recently listed by the CDC as in the top ten advances of the decade. When I was born, in 1960, we had no test for PKU. I am a carrier, meaning one of my 2 genes works well enough for me to live normally. If neither of my 2 genes worked, I would have had PKU. I would not have a PhD in Genetics. I would not have gone to college, and not high school either. The truth is, that if I had been born with PKU in 1960, I would not have been able to go to school at all, would have had irreversible brain damage in early childhood resulting in mental retardation, would have had a very short life, and likely would have also been institutionalized for much of it to protect myself and others.
When my first daughter was born, in 1989 we did have newborn screening. She has PKU. My second daughter, born in 1992, has PKU. Now, although my two daughters have PKU, their lives did not follow this dreadful course of untreated PKU. They are healthy, they live with their family, one has graduated from college and the second just began college. I ask, why?
The answer is simple: because we had the newborn screening test. But not only that, essentially their lives are different because I provided the special diet which PKU treatment requires, every meal, every day, for the last 22 years. It is a formula of all the amino acids except for phenylalanine—the one thing most toxic to the person with PKU—and specifically toxic to the brain. At times this formula was provided, at times I had to argue, insist, cry, refuse to leave the doctor’s office without it, send stacks of evidence over for review. In dead end cases I had to buy it from Internet sites. Health insurance covered it in some work settings and not others. In each case, they first flatly denied the formula and later were convinced it could be covered in the plan after all. I was relentless.
But what of the child born with PKU who does not get the formula they need during those early years when the delicate tissue of the brain is forming? What of the insurance plan that will not bend? What of the parent who can not download and print the evidence, argue, hold their ground, or ultimately pay?
It is painful to imagine going back to the darkness of a time in the US when a PKU diagnosis in a newborn child meant an inescapable, short lifetime of severe disability. As a Geneticist myself, educated at the University of Pennsylvania and trained at Cold Spring Harbor Laboratories, I can not accept going back into that darkness. Then what use is our advance? Then what, if anything, has Genetics ever accomplished here?
Today I’ve written to you at the HHS to ask for support of the inclusion of dietary treatments for inherited genetic disorders within our national healthcare reform. I ask you to include medical foods for the treatment of PKU and similar inborn errors of metabolism as an essential health benefit under the chronic disease management category. I hope you will join me in evaluating this issue for yourselves, and also hear my view from a very personal experience. This is something I feel we need to preserve.