We've all heard of Down Syndrome, sickle cell anemia, cystic
fibrosis, muscular dystrophy and Huntington's Disease, terrible,
life-threatening genetic diseases all. But there's another--far less known--that
afflicts 600,000 Americans, more than all those others combined.
It is an equal opportunity scourge, affecting newborns,
children, adults of all ages, men and women and every racial and ethnic group
alike. As a genetic disease, it doesn't skip a
generation, isn't easily
diagnosed and eventually requires a life-saving kidney transplant. For it,
there is no prevention, no vaccine, no treatment and no cure. As of yet.
I had not heard about it until one of my nieces was
diagnosed with it by chance while undergoing another procedure. Its name is Polycystic
Kidney Disease, or PKD for short. Still not heard of it? That's entirely
possible. There was a nationwide fundraising walk for it on Sunday and, as far
as I can tell, it made very little news.
This is a modest effort to rectify that. Help is on the way,
but only if money can be found through contributions and grants to pay for the
necessary and vastly under-funded research. Obviously, my interest is very
personal, for my niece, her husband and her two boys, but it would be wrong to
let that stand in the way of bringing it to the attention of Tribune and
Thanks only to some very big and recent science--the
identification of all human genes--scientists just 14 years ago discovered the
two mutated genes that cause the disease. One form of PKD, autosomal dominant,
is the most serious kind and comprises about 85 percent of PKD cases. Affecting
about one in 500, ADPKD ranks as one of the most common, genetic,
life-threatening diseases. A parent has a 50 percent chance of passing the mutation
along to her children, although in my niece's case she got it as the result of
a spontaneous mutation in utero, as are
about 10 to 20 percent of the cases.
The disease appears as cysts growing on both kidneys, and
sometimes on other organs (including liver, spleen, pancreas, testes and
intestines), eventually crowding out and disabling the kidneys' ability to
properly remove wastes, concentrate urine and regulate electrolytes--salts and
minerals necessary for maintaining proper body function. About 50 percent of
people with ADPKD end up with end-stage renal disease by the time they're 60,
requiring a kidney transplant. Among the genetic causes of end-state renal
disease, PKD is number one. Among all other causes PKD is number four.
Imagine the sadness of discovering that you have PKD; then
compound it many fold by the knowledge that you have a 50/50 chance of passing
it on to your children. Maybe your children won't get it; maybe all of them
will. There's only one and sad guarantee against passing it on: Don't have
children. To find out if your children will or do have it, prenatal and other
genetic testing is available, including controversial pre-implantation genetic
diagnosis (PGD). That procedure involves the detection of abnormalities in
single cells taken from fertilized human embryos in a laboratory with the
father's sperm. Embryos that are not diagnosed as disordered are implanted in
the uterus; others are terminated.
Obviously, knowing is fraught with moral and ethical
questions. Do you create a human embryo only to end its life if circumstances
demand? Do you carry a fetus to term that is diagnosed with the disorder? And,
what do your tell your children? Do you have them tested? What good does it do
if there is no cure, no prevention, no treatment? Imagine the heartache.
That's where the Kansas City-based Polycystic Kidney Disease
Foundation comes in. It's the only national organization fighting the disease
through its educational, fundraising and lobbying programs. Today, 17 clinical
trails are underway to discover an effective medication, compared with none
three years ago.
Unfortunately, PKD research is grossly under-funded compared
with other genetic diseases. Funding levels per affected person for PKD
research is $68, compared with $2,040 for Huntington Disease and Muscular
Dystrophy, $3,000 for Cystic Fibrosis, $800 for Sickle Cell Anemia and $68 for
Dr. Francis Collins, former director of the Human Genome
Research Institute, said PKD research offers a tremendous "return on investment"
for the amount of funding it receives. He called PKD one of the "hottest, most
promising areas of research in all of bio-chemistry." Let's hope so.
Last year's Chicago walk raised more than $234,000.
Even if you missed this year's walk, the door always is open for contributions,
which you can make by going to the foundation's web site at http://www.pkdcure.org. Please do.