"Yes, we agree," the doctor said. "Your daughter has nail-patella syndrome."
The next moment was like one of those TV dramas where everything suddenly shifts backward and "Four months earlier" appears on the screen.
That was when my daughter Casey was born. The delivery was different from the births of my two sons. There was no shrill little cry, no happy chatter among the doctor and nurses, no infant placed in my arms. Casey was whisked away to a teaching hospital across town for unspecified tests, and 10 hours later I was finally beside her, feeling numb and powerless.
Fast forward and I'm taking her to the hospital every two weeks for casting of a club foot. I keep hoping that her low blood count and other unusual aspects of her birth relate to the foot, but a remark I make about her dimpled knees draws an unexpected response from the resident doing the recasting. He abruptly leaves the room to consult with other doctors. Then Casey is taken away for an X-ray, ultrasound and eventually an MRI. The night of the MRI, her surgeon calls and says that Casey doesn't have kneecaps. He has never seen this before and finds nothing in the medical literature to explain it.
Thus began my life as the mother of a child with a rare disorder.
I immediately went on the Internet, reading every article, study and discussion thread even vaguely associated with my daughter's symptoms. I also did field research, conferring with doctors in 10 hospitals in the Chicago area. I kept reading, thinking it was impossible that Casey could be the only baby on earth with no kneecaps. Then I found a study by a researcher who had identified the genetic marker for a condition called nail-patella syndrome, a rare disorder whose symptoms closely matched my daughter's.
After talking with the researcher at Johns Hopkins, I prepared a detailed brief on our conversation, gathered other materials I'd found on the Internet and presented them to Casey's doctor. That's how we got to a definitive diagnosis, and that 's also how helping people with rare diseases became a cornerstone of both my life and my business.
Some basics: Although the Orphan Drug Act defines a rare disease as one that affects fewer than 200,000 people in the U.S., there are approximately 7,000 rare diseases and collectively they affect nearly 30 million people, or one in 10 Americans. Eighty percent are diagnosed in childhood. The category includes cystic fibrosis, hemophilia, all childhood cancers, some forms of muscular dystrophy and numerous less familiar diseases. Rare diseases are often difficult to diagnose, and approximately 70% of treatment therapies -- if they exist at all -- are prescribed off-label.
Parenting a child with a rare disorder has enriched my life profoundly. For starters, it introduced me to an elite sisterhood of mothers who are boldly fighting for their children's lives in an environment offering scarce information and resources. These women are unusually driven, and the Internet has made them unusually empowered. A recent Pew survey proclaimed them the "undisputed power users" of online health information and noted that many have honed their searching, learning and networking skills to "Olympian" levels.
What good does all this empowerment do?
Consider the story of Pat Furlong of Middleton, Ohio, who created a global online patient registry for people with Duchenne muscular dystrophy, the rare disease that claimed the lives of both her sons. The registry led to a partnership with a biotech company, New Jersey-based PTC Therapeutics, which in turn led to the start of research for a new therapy for Duchenne. Pat's work and the foundation she created, Parent Project Muscular Dystrophy, inspired an article in The New Yorker this past December aptly titled "Mother Courage."
Pat's story may seem one-of -a-kind exceptional, but the truth is that many mothers of children with rare disorders are significantly advancing science by raising both the interest and funds necessary for the development of new therapies.
Joan Bellontine of Floral Park, N.Y., created Grace for a Cure, a foundation that recently won a grant from the Pepsi Refresh Project to fund research into a treatment for children with a rare disorder called Sanfilippo syndrome.
Jordana Holovach of Harrison , N.Y., founded a nonprofit called Jacob's Cure, which has raised a whopping $4 million to fund research into treatments and cures for Canavan disease, a rare neurological disorder that causes progressive brain atrophy and early death.
And Debra and Paul Miller of Corona Del Mar, Calif., formed a nonprofit called CureDuchenne that partnered with Cadillac on a project that included a benefit auction of trips to this year's Super Bowl and a PSA on Duchenne by Green Bay Packers linebacker Clay Matthews.
Having a child with a rare disease makes many parents better people. Casey's disease led me to refocus my Web-design business into a full-service relationship marketing agency specializing in rare diseases. I started expanding my relationships with other mothers of children with rare disorders, as well as with foundations, the medical community and the National Organization for Rare Disorders.
In 2008, we supported NORD in launching the first Rare Disease Day in the U.S. by creating the online campaign "Alone We Are Rare, Together We Are Strong." The observance continues each year on the last day of February, celebrated by an ever-expanding network of partners, including the Food and Drug Administration, the National Institutes of Health and more than 500 medical societies, patient organizations and pharmaceutical companies.
Last year, thinking of all the inspiring people I've met in the various rare disease communities, I decided to do something special for Rare Disease Day 2011. I compiled 13 first-person stories, including Pat's, Joan's and Jordana's, into a book titled "Uncommon Challenges; Shared Journeys: Stories of Love, Hope and Community by Rare Disease Caregivers." The stories provide intimate views into the lives of families affected by rare disorders, underscoring both the influence of mothers in these families and the power of Web-based technology in their lives.
I hope parents will read the book, but I also hope pharmaceutical marketers will read it and understand the rare breed of caregivers who dominate the world of rare diseases. These are parents who are experts on their children's conditions, know the handful of thought leaders in rare diseases, drive new research and form tight online patient communities, rushing to each other's aid when needed.
Pharmaceutical companies can provide significant services to these parents, but only by recognizing that each rare disease carries its own challenges and has its own powerful community of advocates. Companies that become engaged in these communities and bring real value to its members are welcomed. Those with formulaic "selling to a segment" thinking are not.
Fast forward to April 28, 2011, and I'm accepting the Heart Award from the editors of Med Ad News for my company's work promoting awareness of rare diseases. The award includes a check for $3,000, which I am pleased to donate to NORD. I sit at a table surrounded by members of my team from Siren Interactive, pharmaceutical clients, a partner from NORD and moms like me who know what it's like to have a child with a rare disease. The room seems to shimmer as we all clasp hands and give thanks for what tonight's recognition might mean for another child, another mom, another family.
Wendy White is the founder and president of Oak Park, Ill.-based Siren Interactive, a relationship marketing agency that specializes in helping biopharmaceutical companies use the power of the Internet to bring rare disease therapies to market.