Getting Care for a Rare Disease When You Live in a Small Town

I’m up before the sun, shaking sleepy children from their beds, “Come on guys, up you go! You can sleep in the car.” If I’ve been fortunate enough to find childcare that day, I’m only waking one or two kids. If my friends and family are busy, I’m loading all five of my kids into my van. I take inventory before we pull out of the driveway — five kids, coffee, baggies of cereal for breakfast, water bottles, diaper bag, lunch cooler, school work, activities and medical binders. Then we’re off on a three-and-a-half-hour drive to the children’s hospital in the city.

We will watch the sun rise as we drive, make our regular half-way stop at the truck stop that blasts country music, and I will coach my kids through that day’s school work from the front seat. We will brave the city’s rush-hour traffic, find a parking spot on the top level of the parking garage, and finally find our way through the halls of the children’s hospital to check my daughters in for what is often a routine 20 minute appointment with one of their specialists. Because when you have a rare disease, getting routine care often requires Herculean effort.

I’m raising two daughters with the rare genetic condition Bardet-Biedl Syndrome. We live in a small town in northern Indiana where I have yet to meet a single doctor who has heard of their condition before we walked in. It’s not the doctors’ fault. It is the reality of having a condition that only occurs in 1 of 100,000 people.

Our pediatrician has become familiar with my girls’ condition and well-practiced at writing referrals to specialists. The local ER doctors and urgent care staff are beginning to recognize us as well. But for the most part, we drive long hours to get proper medical care. My daughters need regular visits to the kidney doctor (nephrologist), liver doctor (gastroenterologist), hormone specialist (endocrinologist), and eye doctor (ophthalmologist). On occasion we need to see a heart doctor (cardiologist), a lung specialist (pulmonologist), and a neurosurgeon. All of these specialists are located in Indianapolis, a seven hour round-trip drive from our home.

My daughters see most of these specialists twice a year if everything is stable, but never on the same day. The nephrologist only sees patients in clinic on Tuesdays, the gastroenterologist only sees patients on Wednesdays, and the endocrinologist and ophthalmologist are in separate buildings outside the city. I’m afraid to schedule too much in one day anyway, since I may not have the energy to safely make the drive home.

The cost of staying in a hotel along with the challenges of my children’s special dietary needs means an overnight trip is more hassle than making the drive again on a separate day. When you add in emergency visits for urgent concerns and extra visits for outpatient tests and procedures, we make this long trek for proper medical care an average of once or twice per month. But sometimes extra problems come up, and in the last four weeks, we’ve made the trip four times.

The procedures with sedation are the hardest — the MRIs, the biopsies, the ERGs — because I am sometimes required to arrive as early at 5:30 am. I can either try to line up overnight care for my other children and stay at a hotel with a child who is unable to sleep because of the change in routine, or I can wake all my children up at 2:00 am and hope I don’t fall asleep driving when I’ve only had four hours of sleep.

Last week, when my daughter Emma needed an endoscopy with intestinal biopsies, my brother and sister-in-law were kind enough to drive in from out of town to stay with my other four children. I was relieved we had an 8:30 am check-in, which meant I didn’t have to leave home until 5:00 am. Once we were checked in to the outpatient surgery center and waiting for the doctor to see Emma, I stretched out on two hard chairs and fell soundly asleep. The doctor woke me up when she came in the room.

“Are you just stretching your back, or were you actually sleeping?” She asked with a little laugh.

I sat up and yawned, “I was totally out for a good 15 minutes.” I grinned.

“That is hilarious,” she smiled, then added, “Oh wow! You got your hair cut! I love it!”

We chatted like old friends for a few minutes. After seeing her every few months for the last eight years, in a way we are old friends. “You don’t have any questions about the procedure, do you?” she asked. “Probably not. You’ve been through this a few times before.” Indeed we have — with this doctor and all the others. After the procedure she popped in to tell me everything looked good and she expected the biopsies not to show any problems. Laughing she added, “It’s about time one of your kids had a normal tummy-ache!”

I smiled too, relieved one test had been clear.

I led Emma, still unsteady from her anesthesia, through the winding halls and to the parking garage where we loaded back into the van for the long drive home. My second cup of coffee barely carried me through the last hour of the drive. At home I collapsed on the couch, shaky from the stress of the day, but relieved.

One week later the doctor called me. “I have the results of Emma’s biopsies here,” she said, “and while it’s not too alarming, they indicate Emma may have celiac disease like her big sisters.” I sighed — my daughter didn’t have a normal tummy-ache after all. So we developed a plan.

More tests will follow. More early mornings. More shaky drives home. More extra trips to the children’s hospital because when your children have a rare disease you go the distance to find the specialized care they need. You go as far as they need, and you go as many times as it takes — early mornings, loud truck stops, shaky hands and all.

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