Today is Rare Disease Day, an international observance day set aside to recognize the millions of people worldwide who are dealing with disorders so rare that they sometimes lack a name, no less treatment.
According to the National Organization for Rare Disorders (NORD), there are 30 million Americans living with rare diseases. That means one in 10 people are struggling with conditions that are often frightening, baffling and frequently deadly. Eighty percent of rare disorders are genetic, so they affect our children. Thirty percent of those kids don't survive until their 6th birthday because these diseases are so grave.
Those are the cold, hard facts, but behind the numbers are real, live, vibrant and vulnerable human beings. That's why NORD, along with its European counterpart, Eurordis, created Rare Disease Day.
Those who know me are familiar with Bardet/Biedl Syndrome (pronounced bar-day beetle, www.lmbbsa.org), the rare disease that affects my son, Pauly. BBS causes blindness, polydactyl, possible heart problems and or kidney failure, developmental problems and obesity. BBS can be accompanied by autistic tendencies, gastrointestinal disorders and arthritis.
That's the bad news. The good news is we never have a hard time finding a charity to support.
There are 2,000 people in the United States with BBS. It takes two people to pass on the gene, and the odds of doing so are somewhere between 50,000 and 150,000, depending on which article you read. The disease is also prominent in Bedouin societies. Go figure! I'm an Italian housewife from Buffalo.
But this is a collective story, and BBS is just one of the 7,000 strange conditions that make up the spectrum of rare disorders. I do not make light of any of them, but I do wish to show that, although we shed our tears, we do not live our lives in a state of grief. On the contrary, rare disease families embrace every wonderful moment; we seize every opportunity for joy.
Fields Disease is perhaps the rarest disease known to mankind. According to a 2005 BBC news report, the neurological condition affects only two Welch twin sisters, who began exhibiting symptoms at around the age of 4. Within a few years, both girls were in wheelchairs, but doctors still don't know why. In 2005, the sisters, Catherine and Kirstie, won a UK best smile contest for "That's Life" magazine. They beat more than 50,000 entrants.
Josiah Viera has Progeria, a rare aging disease that affects only one in 4 million people worldwide. The little guy is 7, but weighs only 16 pounds and has the body of a 60- or 70-year-old.
Josiah's dream has always been to play baseball with his hometown Little League. He can be seen doing just that on the ABC Evening News or ESPN or Facebook. Josiah's Mom says he's been put here to touch people's hearts.
Rare disease families must be sturdy in order to survive. We are very adept at making lemonade out of lemons. NORD is our educator, our clearinghouse, our advocate, our sponsor and our organizer. Because of NORD, more than 600 patient groups, government agencies, educational institutions and companies have joined to support Rare Disease Day.
And today they have given us a voice, because "Alone we are rare, but together we are strong," and we are "1 in 10." Meet us at www.raredisorders.org.
Dorothy L. Delmonte, who lives in Cheektowaga, is adept at making lemonade out of lemons.