No pressure, but if 36-year-old shot-putter Adam Nelson, already a two-time Olympic silver medal winner, makes the 2012 U.S. team — or, better yet, wins gold at the London Games — it might be the moment that forever changes the way rare diseases in the United States are treated, maybe even cured.
No offense intended, none whatsoever, to Reese Hoffa, Christian Cantwell and Ryan Whiting, among those who — along with Adam — have for years helped make the United States a fixture atop the world shot-put scene.
It’s just that kids like 4-year-old Reed Zeighami are rooting with everything they’ve got for Adam. Reed has a genetic condition called MPS-III, also called Sanfilippo disease. Reed is missing an enzyme that processes sugars. Simply put, his brain is going to shrink and he will die.
Reed’s dad, Roy, and Adam were once workout buddies at Stanford. Now Roy is a Cisco executive. Both are dads — Adam the father of two little girls, 3-year-old Caroline and 15-month-old Lauren, both apparently healthy.
“As a father,” Adam said, “I couldn’t turn him down when my friend says, ‘My son is going to die.’
“… We are going to fight like hell for [Reed]. It’s a question of what can I do to help?”
One, this spring and summer Adam is going to wear a denim ribbon on his uniform. It’s genes in their different variations that are at the core of many if not most of these diseases. Pretty much everyone wears jeans, and jeans come in different styles and colors.
Thus, in the manner of the pink “breast cancer ribbon,” you’ll be seeing the denim ribbon — Adam and supporters hope, increasingly.
Second, Adam has put himself up at charitybets.com. You can “bet” there whether Adam will make the 2012 U.S. Olympic team. Let’s say the wager is $100. You might pay $25 now and, if he makes it at the U.S. Trials — the finals are June 24 — in Eugene, Ore., you pay up the additional $75.
All proceeds go to the Global Genes Project, an initiative developed by the Southern California-based RARE Project.
Adam’s goal was to raise $25,000. With little to no publicity, he had as of this week raised $4,888.
“We do not have lobbying power,” Roy Zeighami said, and for a variety of complex reasons.
“…If I can get a guy like Adam, with his star power, with his microphone, let’s him have do it for RARE. RARE does it for the one in 10.”
Some numbers, according to RARE:
There are over 7,000 rare diseases with no cure.
Those diseases affect more than 30 million people in the United States. That’s one in 10 people.
Approximately 75 percent of those affected are children.
Fewer than 5 percent of rare diseases have any therapies or treatments.
Around the world, more than 350 million people have a rare disease; that’s more than all cancers and AIDS combined.
There are two reasons so few people so know little about a phenomenon that affects one in 10 people, mostly kids, in these United States.
One, though the project encompasses an astonishing number of rare diseases, the fact is that many of those conditions can affect hundreds of, or several thousand, families. That doesn’t make their hardships any easier. But it typically does not make for a way to set far-reaching public policy.
Two, and in a similar vein, the initiative was launched only two years ago, in January 2010. In its first year, it grew from five “disease groups” to 250 global organizations. The plan is now to raise awareness, taking a page from the playbook of, for instance, AIDS and cancer activists.
The trick, of course, as president and founder Nicole Boice said, is to forge unity when acting on behalf of those representing more than 7,000 rare diseases and over 1,200 patient advocacy groups.
Again, she said, it’s to try to create an umbrella campaign that conveys the need for action to legislators, researchers, venture capitalists and more, all the while being mindful that what is at issue are thousands of individual diseases.
That, she said, is what that denim ribbon is supposed to encapsulate.
Earlier this year, the RARE Project and an offshoot, the Global Genes Project, issued a 65-page alphabetical listing of the roughly 7,000 known rare diseases and disorders.
It includes everything from cystic fibrosis, which is more widely known and affects about 30,000 children and adults in the United States; to conditions such as Niemann-Pick disease type C, which perhaps affects 200 children; and a disorder such as Chromosome 21 ring, which affects a few infants, if that many.
An illustration of just some of the real-world challenges:
The Food and Drug Administration on Jan. 31 gave approval to Cambridge, Mass.-based Vertex Pharmaceuticals for a drug called Kalydeco — to treat cystic fibrosis patients ages 6 and over, who carry a gene mutation called G551D. Only 1,200 people in the United States carry the mutation; about 200 of them are under 6 and wouldn’t qualify for the drug.
The company also, according to news reports, said it plans to charge $294,000 a year for the twice-daily pill; it said it would help subsidize costs.
Of course that’s expensive. But what price hope?
In Reno, Nev., Chris and Hugh Hempel’s 8-year-old twin daughters, Addi and Cassi, have Niemann-Pick disease type C. The disease affects the ability to metabolize cholesterol. Excessive amounts of lipids, or fatty tissue, then accumulate in the brain, causing increasing neurological impairment. The condition is sometimes referred to as “childhood Alzheimer’s.” The condition is always fatal; most do not live to age 20.
The twins are still in diapers, Chris said. They can walk and eat, but only with help. They can no longer speak, she said.
“We’re all in fractured groups,” she said. “We’re not going to be able to make any progress and yet we’re all facing similar hurdles. For Adam to wear the denim ribbon — we’re all trying to get people to understand a simple concept.
“A lot of people are facing no hope. When people are told your kid is facing this condition, you ask, ‘Where’s the medicine?’ That’s why Adam can raise awareness. This ribbon is the unifying symbol of hope we can rally around.”
For his part, Adam said he and Chris had a phone call a little while ago that reminded him of the urgency of what he’s doing.
Adam’s older daughter, Caroline, kept tugging at him while he was holding the phone to his ear. Daddy, she said, “Daddy, I want to watch a show!” She kept pulling at him and yelling. Finally, Adam had to stop the call, saying to Chris, “My daughter wants to watch something on TV, will you please just excuse me for a moment?”
When he got back on the telephone, Adam said, “Sorry about that.”
Chris said, and she wasn’t being mean about it or feeling sorry for herself or her husband, Hugh, “I wish my daughters could yell at me. That would be a great day.”