children's rare disease networkCatherine Calhoun remembers the day with exacting clarity. It was October 16th, 2006. When she dropped her four-year-old son, Billy, off at school, she noticed he was limping. At first, the St. Francisville, La., mom didn’t think too much of it. But when the limp was still there later that day, she took him to a doctor. Just in case.
After numerous X-rays, the doctor came back with the news — Billy had multiple lesions throughout his leg bones. Another blow: the doctor didn’t know why. Cancer? A bone disorder?
Wanting answers, Calhoun took Billy to New Orleans Children’s Hospital, a two hour drive away. There, the doctors and medical students asked to see Billy’s X-rays. Did he have birthmarks? Indeed, large cafe-au-lait spots that previous doctors had dismissed as normal. But these, combined with his X-rays, were telltale signs of a disorder the physicians had studied just that week: McCune-Albright Syndrome.
The diagnosis was bittersweet for Calhoun, a lawyer who has taken on her child’s disease as her only client. His condition had a name, but it didn’t have a cure. Resulting from a chance genetic mutation that happens while still in the womb, the disease can affect bones, skin and the endocrine system. Though the symptoms differ from person to person, usually people have fibrous dysplasia, where normal bone tissue is replaced with abnormal growth, leading to weak bones prone to fracture and deformity. In addition to the birthmark-like pigmentation, endocrine issues can result in growth and sexual development abnormalities, including precocious puberty, where girls as young as four menstruate.
McCune-Albright is considered a rare disease, defined by the National Institutes of Health as any disease having a prevalence of fewer than 200,000 affected individuals in the United States. There are more than 7,000 rare disorders; collectively, they affect approximately 25 million Americans, most of them children.
Many rare disease sound like something out of a Dr. Seuss book. There’s dancing-eyes-dancing feet syndrome, which causes the afflicted to move with a trembling gait and to have rapid eye movement. Cri du chat syndrome is characterized by cries that sound like a cat’s mewing. Windblown hand causes fingers to bend toward toward the little finger. Yet others, including ALS and Hodgkin’s lymphoma, have been made well-known through celebrities or prevalence.
With so few people affected by each individual condition, rare diseases –often called “orphan diseases” because they’re neglected or forgotten about — don’t have the research focus or organizing power that something like cancer does. Causes and cures are limited. Pharmaceutical companies are hesitant to invest in drugs with such a limited patient population, and thus, a limited profit potential. The FDA has an Office of Orphan Drug Development, dedicated to promoting the development of diagnosis and drugs for rare diseases, but many treatments won’t come for years, if not decades. A Congressional Rare and Neglected Disease Caucus has recently been formed, but it needs more Representatives to join in order for the Caucus to gain momentum.
Catherine Calhoun knows the challenges of a rare disease all too well. Billy’s original X-rays showed a fractured femoral neck, treated by inserting a set of metal rods in his legs to stabilize the weak bones. Billy, now 8, has had to have a new set of rods about every two years; he will continue to get them until he’s done growing.
Surgeries are hard, says his mom, because he has to relearn to walk each time, building up the muscles that have atrophied. Although he can use a walker, he normally goes to school in a wheelchair so other kids don’t accidentally bump or knock into him, threatening his weak bones. With the help of his working dog, Picasso, Billy is able to have fun despite his condition. He likes to remain independent, pulling stunts in his wheelchair and learning to play tennis in his spare time.
Though life-expectancy for kids with McCune-Albright is normal, symptoms of the disease take a toll on a regular life. For Billy, bone pain is oftentimes so bad that it hurts to put a shirt on.
“He can go to college, get a job and kick butt in a wheelchair. But if he can’t get out of bed because of the pain — it’s no way to live,” says Calhoun.
The limited treatment options for the pain are something that Billy’s mom is particularly concerned about. Currently, he receives bisphosphanate infusions, but the long-term side effects from this drugs are potentially harmful. No one knows why the fibrous dsyplasia is painful. An active blogger and advocate, Calhoun has started the “Calhoun Bone Pain Project”, which raises funds to support pain research.
She recognizes that her full-time advocacy and parenting has helped her son.
“I see lots of kids that don’t get what they need,” she notes.
To address the lack of awareness and focus on these neglected diseases, Congressmen Joseph Crowley (NY) and Fred Upton (MI) recently started the Congressional Rare and Neglected Disease Caucus. By signing this petition, you can urge your Representative to join the Caucus, and help bring much needed research and treatment for the thousands suffering from rare diseases.
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