Common Cure for Rare Diseases: Knowledge

Written by JM Dad Kevin McKeever.

Huff Post Parents Blog Screen

A version of this post was originally featured February 28th, 2014 in the Huffington Post and on Kevin’s blog, Always Home and Uncool

February 28 was Rare Disease Day, an annual international event that aims to raise awareness about the thousands of under-the-radar diseases that significantly impact people's lives. My daughter is one of those people.

Our pediatrician admitted he'd never seen it before. For this odd rash on our 2-year-old daughter, he sent us to a dermatologist.

The second doctor wouldn't admit to anything. He rattled off the names of several conditions, none seemingly worthy of applying his bedside manner, prescribed antibiotics and showed us out.

The third doctor admitted she didn't know much. Tests on the chunk of skin she ripped from our daughter's knee showed just generic signs of an "allergic reaction."

The fourth doctor had just spotted the limp blond cherub in my lap when she admitted she knew too much. She gathered a gaggle of med students and pointed out each telltale symptoms.

The facial rash resembling a butterfly's silhouette.

The purplish-pink spots and smears on her eyelids.

The reddish alligator-like skin puffing over her knuckles.

The increasing muscle weakness in her legs and upper body.

An assistant brought in some pages photocopied from a dusty textbook. She handed them to my wife, whose birthday it happened to be that day. That was my wife's gift that year -- a diagnosis for her little girl.

Our daughter has juvenile dermatomyositis, part of a family of rare autoimmune diseases that can have debilitating and even fatal consequences. That first year with this disease none of us had ever heard of before consisted of intravenous infusions, staph infections, pulmonary treatments and worry. Surgeons implanted a feeding tube through her stomach wall because her throat muscles were too weak to swallow food and drink properly. They later added a port into her upper chest to give doctors and nurses easier access to her veins because the constant need to draw blood or give IV meds was otherwise too difficult on someone with tiny blood vessels. She temporarily lost her ability to walk. We would prop pillows against her so she wouldn't fall over while sitting on the couch while the medicine or nourishment dripped from a bag into her body.

That was almost 12 years ago. My daughter, now 14, remembers little of the pain and struggle and fear she went through, especially not when she's taking dance three times a week, or practicing her guitar or wrestling her little brother. The reminders are everywhere, though.

A twice-daily array of pills.

A monthly six-hour IV drip of a refined human blood product.

Quarterly trips halfway across the country to visit a specialist.

Yearly two-day infusions of a powerful med that destroys certain cells in her blood thought to rev up with disease.

Small scars from surgeries on her chest and belly; worse ones from the inflamed blood vessels that ate through the skin under her right arm.

And then there are things that cannot be seen, the invisible but indelible. The memories, the fears -- some spoken, some buried -- the long-term helplessness etched into me and my wife.

What would have happened if it took us more than two months and four doctors before we lucked into a diagnosis for our little girl? I don't want to know.

I do know that I'm glad that fourth doctor, the one who recognized this medical oddity, made sure her students studied my daughter, so one day they might also be able to help other parents struggling to find an answer to the mysterious illness overtaking their precious child.

Juvenile dermatomyositis and its “root” disease juvenile myositis are among the 7,000 conditions classified as "rare" because each affects fewer than 200,000 people, according to the National Organization for Rare Diseases (NORD). However, when looked at as a whole, about 30 million people in the United States -- that's 1 in 10 Americans -- have one of these conditions. That's an abundance lot of rarity.

So for the millions out there struggling like we were 12 years ago to get a proper diagnosis, treatment or even just basic information on one of these many "rarities," please spare a few minutes to read up or spread the word about Rare Disease Day so others may possibly be spared the heartbreak of the unknown. As the NORD slogan says, “Alone we are rare. Together we are strong.”