Rare Disease Experts: Worth the Cost?

Benefits of specialty care and centralized treatment must balance against limits on funding and health care resources

Grace Niewijk
Oct 20, 2017 · 7 min read
Dr. Tony Chin helps a young patient perform “surgery” during her stay at a rare disease treatment center. Photo courtesy of CAMP

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When you play sports or go for a run, your body needs extra oxygen and starts to feel hot. In response, your heart beats faster, your breath quickens, and you sweat to cool your body. But have you ever had to think about making those things happen? Chances are, you haven’t — you probably have a functioning autonomic nervous system.

Replacing “autonomic” with “automatic” is an easy way to remember the role of the autonomic nervous system. When it’s working correctly, it helps your body adjust to different conditions without conscious thought, making involuntary changes to things like your heartbeat, breathing patterns, and body temperature. Without those automatic shifts, you might collapse during a simple jog around the block.

Children with rare autonomic disorders lack the ability to adjust, or even to sense the need for adjustment. These children can stop breathing in their sleep, when automatic control is supposed to take over completely; they’ll turn blue when they try to run and play with their friends; they might run out into the snow with bare feet, risking frostbite, because snow doesn’t feel as cold to them.

Rare diseases that affect the autonomic nervous system can be confusing and difficult for nonexperts to diagnose, because they affect so many different organ systems in the body. An ophthalmologist who notices that a child’s pupils fail to constrict automatically doesn’t usually think to ask if the child has breathing difficulties. A pulmonologist might explain away breathing difficulties as nothing more than sleep apnea, seeing no connection to the patient’s recurring constipation.

But on the day their child finally receives a rare autonomic disease diagnosis, dozens of parents across the globe each year hear the same sentence:

“You need to go to Chicago.”

The Center for Autonomic Medicine in Pediatrics (CAMP) at Ann & Robert H. Lurie Children’s Hospital of Chicago is a one-stop shop for children with these diseases. Without CAMP, these children and their families would spend their lives being shuttled between specialists, each of whom would treat only one symptom at a time. Centralized care not only improves efficiency but also helps individual children get the care they actually need.

“At CAMP, we can speak the same language, whereas at other facilities we have to bring the professionals up to speed on [our daughter’s] rare disorder and specific needs,” explains Curtis Calvert, whose two-year-old daughter, Norah, has a rare autonomic disorder. Norah’s CAMP caregivers have a unique understanding of exactly what she is going through and are sympathetic to her parents’ struggle.

CAMP staff tailors their approach to managing each child’s specific set of symptoms. Calvert explains, “They have [Norah’s] best interest in mind, and take an entire week to figure out the best ventilator settings while also teaching us how to care for her in the best and safest way possible.”

CAMP respiratory therapists figure out those ventilator settings — which change how frequently a machine helps a child breathe through a mask or a tube in their airway — by monitoring children around the clock. The children’s skin has a constant stickiness during their stay at the center—residue left behind from the countless sensors that measure vital signs like heart rate, oxygenation, and breathing.

In the “night room,” patients sleep peacefully under artificial stars, separated by a sliding panel from the blinking machines and nests of wires monitoring their vital signs. In the “day room,” friendly giraffes and lion cubs peer out from the walls, watching a child doodle, play games, dance, or perform exercises beneath the cheery blue sky that lights up the ceiling panels — the child’s vital signs continuously monitored all the while. CAMP is one of the only places where all those vital signs can be addressed at once.

Dr. Debra Weese-Mayer tends to a patient in the day room. Photo courtesy of CAMP

The clinical staff take the time to replicate as many aspects of each child’s normal life as possible so they can specify symptom-management strategies for every situation that could arise. The goal is to give these patients as many opportunities as possible to enjoy normal, fun activities. But achieving this goal often requires creativity.

Dr. Debra Weese-Mayer, CAMP’s founder and chief, recalls a problem-solving episode with Sarah*, a patient who enjoyed downhill skiing at her grandparents’ mountain cabin — a risky scenario that presents multiple breathing challenges. Mountain air is thinner and less oxygen-rich, and the wind created by downhill velocity makes regulating air intake extra difficult.

But the clinical staff rose to the occasion, creating a setup in CAMP’s day room that allowed Sarah to simulate skiing motions. With a fan blowing to mimic the rushing wind, Sarah pretended to ski while inhaling air that had reduced oxygen content. The setup may have looked crazy to anyone walking by, but it allowed the CAMP team to figure out the best ventilator settings to get Sarah back on the slopes, her father skiing alongside to carry her ventilator in a backpack.

Two-year-old Norah Calvert recently went a step beyond Sarah’s experience, breaking free from the bulky ventilator that kept her tethered to her parents. CAMP is the only center fully equipped to surgically implant and then electrophysiologically program diaphragm pacers. These devices — like cardiac pacemakers — use electrical currents to create a steady breathing rhythm that Norah’s parents can alter for different levels of exertion and concentration. Following the surgery, the Calverts are hopeful that Norah’s newfound freedom will allow her outgoing personality and curious disposition to flourish.

“If you have only known carrying a 15-pound ventilator for life support while you carry your young child in your arms, the opportunity for the toddler to sit in a grocery cart wearing a small backpack with the lightweight diaphragm pacer transmitter is life-changing,” says Weese-Mayer.

One of Norah’s friends and fellow patients celebrates her first time in a grocery store without a ventilator! Photo courtesy of CAMP

To some, CAMP sounds like a luxury — the Rolls-Royce of treatment centers. Kids like Norah and Sarah could survive without access to activities like skiing, or even without diaphragm pacers. In the context of a broken U.S. health care system that underserves so many people, Weese-Mayer and her colleagues have to justify CAMP’s allocation of resources.

It turns out that specialty care centers may actually save money. Recall the myriad of specialists that patients would have to visit if centralized care wasn’t an option. For many patients, the cumulative cost of those visits far exceeds the expense of the time they spend at CAMP, especially since visits to non-experts often result in unnecessary tests and procedures.

“When a child has a rare condition, especially a condition that requires artificial ventilation for life support, it is even more important for the parents to be aggressive about finding the top experts,” says Weese-Mayer. She claims that finding those experts early cuts costs and leaves children healthier. “After a comprehensive inpatient CAMP admission, patients consistently have fewer hospitalizations and illnesses year after year.”

CAMP and the families it serves all work hard to raise funds and resources, especially to support research that can improve quality of life for affected children. Weese-Mayer was one of the researchers who discovered the genetic mutations that cause one of the autonomic diseases, and later developed the first genetic screening test for diagnostic use. Weese-Mayer and her colleagues ultimately donated the test patent to the Chicago Community Trust Foundation so profits could go toward funding disease research: “Our research into rare diseases of respiratory control and autonomic regulation would be profoundly hampered without this collective philanthropy,” says Weese-Mayer.

Now that the diagnostic test is widely available, the biggest obstacle in the way of fundraising and early diagnosis is disease awareness. The disorders CAMP treats are so rare that fewer than 2,000 cases have ever been recorded worldwide. Raising awareness is a collaborative effort. Weese-Mayer devotes time outside the clinic to speak internationally and domestically at conferences, donor events, and scientific meetings. Advocate groups like ROHHAD Fight Inc. use social media, informational materials, and charity events to solicit donations and raise awareness while also acting as support networks for patients. The families behind these advocate groups “are tireless in their efforts and determined for our success in improving lives for not only their child, but all children affected,” says Weese-Mayer.

Over years of visits and interactions, CAMP staff develop relationships with patients and their families, especially those who are passionate about raising awareness. “We are a part of their lives, and they a part of ours,” says Casey Rand, senior research project manager at CAMP.

“We love receiving graduation announcements and wedding announcements with beautiful photographs from our patients as a result of our opportunity to follow some of our older patients through success stories of happy, fulfilling lives,” adds Weese-Mayer. “Traveling to the wedding of one of our young adult patients, in close proximity to her college graduation, reminded us that every child deserves the opportunity to graduate from college, fall in love, and get married — just like we would wish for our own children.”

By developing expertise and experience in treating rare-disease patients, specialty centers like CAMP have the opportunity to individualize and improve care while advocating for the support these patients will need to live fulfilling lives. “This type of special care can come with a high price tag,” acknowledges Rand, “but centralizing care and reducing the need for repeat specialist visits and avoidable trips to the emergency room — paired with the quality-of-life improvements such care provides — is worth it.”

*Name changed to protect patient privacy.

Grace Niewijk

Written by

Freelance science writer and editor. Received my degree in molecular biophysics and biochemistry at Yale before launching slightly sideways into writing.

Rare and Orphan
Rare and Orphan
Rare and Orphan

About this Collection

Rare and Orphan

1 in 10 Americans is living with a rare disease, but 95% of their diseases still lack treatments or cures. Researchers and clinicians must constantly justify their choice to dedicate time and resources to rare diseases instead of more common ones. Families in the rare disease community work together to raise awareness and funding, but it remains an uphill battle.

1 in 10 Americans is living with a rare disease, but 95% of their diseases still lack treatments or cures. Researchers and clinicians must constantly justify their choice to dedicate time and resources to rare diseases instead of more common ones. Families in the rare disease community work together to raise awareness and funding, but it remains an uphill battle.

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