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In 2011, doctors told Brittany Parke that her newborn baby boy was completely healthy, but she wasn’t so sure. The 25-year-old was living in upstate New York, and as a second-time mom, she knew something wasn’t quite right with little Drew. The two-month-old was sleeping excessively and refused to eat. Doctors brushed away her concerns. Then came the seizures. Three and a half weeks after first seeing a doctor, she began to receive answers. But by then, it was too late. Drew died shortly thereafter.
Genetic testing done on Parke and her husband offered an explanation: The pair had genetic variations that can cause a defect known as Cobalamin G disorder. The ailment brings with it poor feeding, slow growth, seizures, neurological disorders, and, if left untreated, death. It’s not surprising Parke’s New York doctors were stumped; the disease affects only one in 100,000 newborns.
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Rare diseases such as Cobalamin G, often called orphan diseases, are conditions that each affect fewer than 200,000 people in the United States. Living with one can be a nightmare. Symptoms can be life-altering and life-threatening. Doctors often don’t know what’s wrong. Dealing with health insurance companies becomes a full-time job. And treatments are often as rare as the diseases themselves.
Colorado organizations are working to change that. In November 2021, the University of Colorado Anschutz Medical Campus—which includes UCHealth University of Colorado Hospital and Children’s Hospital Colorado (CHC)—was designated a Rare Disease Center of Excellence by the National Organization for Rare Disorders (NORD), the nation’s leading advocacy organization on rare diseases. CU Anschutz is the only medical center in Colorado to earn the title, but it is not alone in its mission to better the lives of those affected. Thirty other institutions nationwide received the designation when the program was launched last November and will collaborate to streamline the referral process. “We’ve been doing rare disease work and research for decades, although it’s been happening in a way that’s not very structured across the campus,” says Dr. Matthew Taylor, director of adult clinical genetics at the CU School of Medicine. “Now that we have this center designation, we’ll be able to organize all of our rare disease services and be in a better position for patients to connect with us more easily.”
That’s a much bigger deal than it might seem. Historically, when patients first start experiencing unexplained symptoms, they visit primary care providers—and that’s where a seemingly endless cycle of doctor referrals begins. Depending on the rare disease that’s involved, getting a diagnosis takes an average of eight years. “These patients often find themselves visiting their usual doctor’s office or an emergency room, and that’s not necessarily where rare disease experts usually hang out,” Taylor says.
Taylor considers himself one of those experts, but even he recognizes that of the thousands of rare diseases out there, he only has knowledge of a fraction of them. That’s why the Center of Excellence status is so important: Sharing knowledge of orphan diseases is crucial.
After moving to the Centennial State in 2017, Parke was able to turn to CHC for help when she found herself pregnant with her youngest son, Grayson. The team at CHC, which Parke describes as “stacked” with experts, recommended prenatal testing to determine if her unborn child had the same disorder as Drew. The results came back positive. Armed with that knowledge, doctors began treating Grayson just minutes after he was born. Today, he is a happy three-year-old expected to live a full life.
CU Anschutz isn’t the only Colorado medical center pouring brainpower into helping those with rare diseases, of course. Hospitals across the metro area are delivering effective, life-bettering care. To learn more about these little-known disorders, we spoke with researchers, doctors, hospital administrators, and patients, all of whom want to make rare diseases feel a little less rare.
By the Numbers
1 in 10:
Number of Americans who suffer from rare diseases. That number could be greater, considering how common misdiagnosis is.
The number of known rare diseases in the world.
Percentage of rare disease diagnoses that happen in childhood.
Percentage of rare diseases that have no known treatment, largely due to pharmaceutical companies’ inability and/or reluctance to research and make drugs so few people will use.
Percentage of all patients suffering from a rare disease who are on an approved and standardized treatment plan.
Percentage of rare disease patients who must borrow money from family or friends to pay medical bills. Although insurance generally covers the cost of orphan drugs, families who are underinsured or have no health insurance can find themselves struggling to pay for treatment.
1 in 3:
Hospital beds in pediatric hospitals nationwide that are occupied by children with rare diseases.
Percentage of children with rare diseases who won’t live to see their fifth birthdays.
Misdiagnoses a patient with a rare disease will receive, on average.
The Push for Action at the State Level
This past June, Governor Jared Polis Signed Senate Bill 22-186, which could bring awareness to Colorado’s orphan disease community and promote further legislative action.
Kyle Mullica’s countless nights as a hospital nurse have shown him firsthand how many patients with rare diseases really visit the emergency room and how many medical professionals don’t know how to care for them. That’s why Mullica—who is also a state representative—co-sponsored a bill in 2022 with a bipartisan group of politicians to raise awareness of rare diseases. SB 186, which was signed into law in June, calls for the formation of a rare disease advisory council. “Our goal with this is so people can have a voice and we can shine a bright light on something that’s not talked about enough,” Mullica says. The council will be comprised of 12 members—likely researchers, geneticists, physicians, and people living with rare diseases—who will come together to lead public hearings on the issue and recommend policy action. The goal is to make diagnosis faster and treatment options more accessible for Coloradans by further educating both medical professionals and the public on rare ailments. The behind-the-scenes effort to get the bill signed is what Mullica, a Democrat, calls a “perfect” example of what government can do when it’s functioning correctly. “The work was mostly done by regular citizens. If people want change, they can create it,” he says. Cleave Simpson, a Republican state senator who lost his mother to amyotrophic lateral scleroris (ALS), agrees. “The only opposition we faced was that some were concerned about adding yet another advisory council to the department of public health,” Simpson says. “But, overall, it was really a bipartisan effort that has minimal fiscal impact. I hope it gives people with rare diseases a voice.” Appointments to the council are scheduled to be completed by October 1, meaning the first council meeting could occur by the end of this year.
Insurance Hurdles & the Cost of Living With a Rare Disease
Not surprisingly, the U.S. government, Big Pharma, and health insurance companies make getting and paying for rare disease treatment an epic quagmire.
Brittany Parke’s son, Grayson, is in good hands at CHC, but that doesn’t mean finding and affording medications to help him is easy. Out of the six medications Grayson takes daily, only one of them is approved by the Food and Drug Administration (FDA) to treat his genetic condition. Parke and her husband have to pay out of pocket for another one of his drugs, because her health insurance doesn’t view it as essential, despite his doctor’s expert opinion. Dr. Jennifer Taylor-Cousar, a pulmonologist at National Jewish Health, knows how difficult it is for doctors to witness patients struggling to find medications. “These drugs can be very, very expensive, and we see a lot of patients fall through the cracks,” Taylor-Cousar says. “It’s incredibly hard to watch.”
The Orphan Drug Act of 1983 was an attempt to fix what Taylor-Cousar, Parke, and others experience every day. The law provides financial incentives to pharmaceutical companies to research and create medicines, dubbed “orphan drugs” by the FDA, that treat rare diseases. While the act has delivered relief to an estimated 11 million patients since it went into effect, at least 14 million Americans are still waiting for FDA-approved treatments for their respective ailments. Why is there such a holdup?
Many of the rare diseases that do have treatments are the ones that affect the most people—a scenario that means drug companies not only have more research subjects, but also more potential consumers to make the drug worth manufacturing. The afflictions that are the rarest, says Heidi Ross, vice president of policy and regulatory affairs at NORD, simply do not have enough patients to conduct research. “One of the biggest issues we’re seeing is that it’s extremely difficult to perform clinical trials [for new drugs] on a disease that so few people suffer from,” Ross says. “If pharmaceutical companies don’t have enough people suffering from a disease who are willing to participate in research, these drugs never get created, despite the incentives.”
As of 2021, there were 599 approved orphan drugs on the market, but that number hasn’t helped all of the many millions of patients who require specific medications to manage their ailments. While some patients can take medications that have been FDA approved for other illnesses “off label” for their rare diseases—meaning an existing drug is being used to treat a condition it wasn’t created or approved for—it’s not a viable solution for everyone.
Plus, the number of new orphan drugs has been stymied by recent federal legislation. The Tax Cuts and Jobs Act, which was signed into law by former President Donald Trump in December 2017, reduced the amount of incentives pharmaceutical companies could receive from 50 percent to 25 percent of clinical testing expenses, a move that provides even less motivation for research. “At NORD, we really would encourage Congress to return to that 50 percent incentive,” Ross says. “We hear from patients who can’t find treatment every single day.”
Patients like Parke’s son, Grayson. Although the three-year-old is taking a daily cocktail of effective drugs right now, his situation is tenuous. Recent supply chain issues and increasing demand have made B12 vaccines, which he needs, not only scarce but also more expensive. “Even if insurance doesn’t pay for Grayson’s medicine and the prices are increasing, there’s nothing I can do,” Parke says. “I don’t have a choice. I still have to buy it. He literally needs it to live.”
How One Colorado Woman’s Chiari Malformation Diagnosis Isn’t Holding Her Back
Vertigo originally sent Hannah Jane to the Emergency room, but it took two years for her to get a diagnosis of a Chiari malformation.
“I still remember the exact date when I woke up and first started feeling symptoms. It was October 18, 2018. I was 26 years old. I had really bad spins and went to the ER immediately, and they just said it was vertigo and sent me out the door. For a long time, I experienced spinning, nausea, and headaches. Whenever I mentioned that I had migraines, the multiple neurologists I went through would just brush it off. I was actually told by one doctor, ‘I have no idea what’s wrong with you, and I don’t know what to do.’ That was really difficult to hear—it made me feel like I was crazy. I really had to fight to be heard. No one knew what was wrong with me until I got to the Colorado Chiari Institute, where I was diagnosed two years after that night in the ER. They told me I had a Type I Chiari malformation, a form of a condition where the brain extends out of the skull and into the spinal cord. It can cause vertigo, nausea, and trouble speaking. They said, with surgery, I might be able to go back to a normal life. Last year, I had the decompression surgery, where the surgeon removed a piece of bone from the back of my skull to make more room for my extended brain stem. Before the surgery, I was unable to keep food down. I was vomiting multiple times a day and just constantly nauseated. As soon as I woke up from surgery, I knew it worked. I was immediately craving food. I still experience symptoms, but I feel way better than I did. Now, I run an Instagram account (@chiarimalformation) where I create coloring books and T-shirts to spread awareness about Chiari malformations. I’ve opened it up to the community, and now other people going through the same thing can come and tell their stories. Continuing to do art and fashion, which had been my passion projects for years before being diagnosed, and running this account really kept me uplifted throughout this whole journey. You should never lose yourself and your identity when fighting a medical battle.”—As told to Barbara Urzua
Is It A Migraine—Or Something Else?
Many of the symptoms of a serious Chiari malformation look like a bad hangover or a terrible migraine: headache, balance issues, dizziness, vomiting, muscle weakness. The wide range of many of the manifestations makes diagnosis difficult, but odds are you simply had one too many because this ailment, which may be genetic, affects only one in 1,000 people. Plus, the majority of cases are asymptomatic; experiencing symptoms is much rarer.
Most people have a 35-millimeter opening at the base of their skulls where the brain meets the spinal cord. In people with Chiari malformations, though, the brain extends through that opening into the spinal canal. The Colorado Chiari Institute at the Medical Center of Aurora, which was founded in 2006, diagnoses and treats those with the rare neurological disorder, which is broken down into four types based on symptoms and rarity. “Oftentimes, people who come to us have initial symptoms like headaches and tiredness and can’t seem to pinpoint what’s wrong, leading to a lot of misdiagnoses from other doctors,” says Dr. James Stephen, medical director of the institute. “A lot of those patients come to us with a pretty negative view of the medical community, which is understandable.”
Unlike many other rare diseases, Chiari malformations can sometimes be managed with surgery. But “surgery isn’t for everyone,” Stephen says, “so it’s difficult to have that conversation with patients who want a quick fix.” With those who can’t have surgery, treatment consists of symptom management, meaning a daily mixture of medications. “We do our best,” Stephen says, “to help our patients who can’t have surgery manage their symptoms and lead better lives.”
The Research Database That Could Speed up Diagnosis Times
Melissa Haendel’s background in genetic research might be the key to coordinating rare disease information across the CU Anschutz Campus—and the world.
When Melissa Haendel began working as chief research informatics officer for CU Anschutz in April 2021, she took on a tough assignment: organizing every stakeholder in rare disease research into one cohesive unit. This would ensure that information was disseminated throughout the medical campus to every doctor, nurse, researcher, and patient. Previously, Haendel served as the director of the medical center’s Translational and Integrative Sciences Lab (TISLab), which, in 2009, began work on developing a database of rare disease knowledge. Now that Haendel is in her new role, the TISLab will work more closely with the medical center to provide physicians with access to the database. 5280 caught up with Haendel, who holds a doctorate in neuroscience, to learn more about her vision for the future of rare disease research.
5280: How does your background in research and data come into play when coordinating care for rare diseases?
Melissa Haendel: My lab [TISLab] has been sitting on a lot of rare disease data. So far, rare diseases aren’t seen as a cohesive thing. The diagnostic criteria behind each one is different, and doctors obviously aren’t walking databases of knowledge on every rare disease, making diagnosis difficult. My team and I are essentially putting this mess of data into one place that the doctors and experts at CU Anschutz, and worldwide, can access. We want to make this knowledge easily accessible across the board so that patients are seen quicker, diagnosed quicker, and can get treatment quicker.
How exactly are you and your team planning on getting all these lone players to work together?
I don’t think patients are aware of the army of people who work on rare diseases behind the scenes. To harmonize everything, the TISLab started to put together a database of all of the world’s rare disease knowledge more than a decade ago. We call it the Monarch Initiative. It can be used during diagnosis and can even be contributed to by outside experts as we learn more. In putting this together, we’ve not only standardized rare disease diagnosis worldwide, but we’ve also learned that there are likely more than 10,000 known rare diseases, which is way more than [the 7,000] we originally thought.
What kind of research are you currently doing?
The Monarch Initiative consists of multiple parts, including two diagnostic tools for disease research that physicians can contribute to. One neat thing we’ve done is compare phenotypes among species. So, take the PAX6 gene, which can cause abnormalities in the eye. We studied not just what this gene does to humans, but also what it can do to the eyes of mice, zebra fish, and fruit flies. This cross-species comparison can tell us a lot about how genetic defects can affect humans, and it’s just part of the overall goal of the Monarch Initiative.
Are there any particular challenges that you’ve faced along the way?
Chasing down medical records and diagnostic information from various medical organizations has proved difficult. Every organization has its own way of taking notes of a patient’s symptoms, so that lack of standardization makes it almost impossible to put a data set together. We’ve found that patients who live in rural or disadvantaged areas have health records that are even more sparse.
How Children’s Hospital Colorado Is Bringing Colorado Kids and Teens Relief
Harshit Talwar endured years of pain before finally finding relief.
The first few years of Harshit Talwar’s life were what one might politely call challenging. As he started crawling and eventually walking, Talwar’s parents couldn’t understand why their toddler’s skin got irritated so easily. The smallest scrape would cause a nasty blister.
Born in India, Talwar was eventually diagnosed around the age of four by a New Delhi pediatrician, who said his hypersensitivity was due to epidermolysis bullosa (EB), a rare group of conditions that causes fragile skin and the formation of painful blisters, which can get infected. The genetic malady is most concerning in infants who have a higher risk of infection, but with no available cure, the illness delivers a lifelong battle against agonizing boils that can lead to malnutrition, constipation, dental issues, and sepsis.
“If any friction is applied to my skin, I either form a blister or my skin just peels right off,” the now 16-year-old Colorado Springs resident says. “For people with epidermolysis bullosa, our blisters don’t just dry off and go away like other people’s. We have to lance the blister and let the fluid out, or it will just grow bigger.”
Even with a diagnosis, Talwar’s journey didn’t ease. The Indian public school systems refused him as a student, stating that his condition could be a liability. After his father’s work required him to move, and knowing their child needed schooling, the family relocated to Singapore, where he was welcomed into public schools and where he saw a vast improvement in his skin due to the humidity. Although the doctors Talwar saw in Singapore seemed slightly more knowledgeable about EB than the physicians in India, they recommended a surgery that involved placing needles inside his fingers—which were bent, a common symptom of the disease—to try to straighten them out. “It was the most painful experience of my life,” Talwar says. “My fingers still hurt from that.”
The emotional and physical trauma from that operation haunted Talwar so much that five years later—after his family relocated to Colorado in search of better treatment—10-year-old Talwar begged CHC doctors to not put needles in his hands. The CHC team told Talwar’s family that the surgery he’d undergone was inappropriate. That was the bad news. The good news was that Talwar was finally in the care of EB specialists.
Today, the teenager meets with a physical therapist who encourages him to stretch his limbs and go on daily walks; a dermatologist who assesses his wounds; and a nutritionist who gives him supplements to improve his growth. The change in his well-being over the past six years has been what Talwar calls “a huge relief.” Feeling good has allowed him to mostly be a normal teenager. “There’s a lot of misconceptions about EB,” Talwar says. “It’s not contagious. This is just who I am. I want to be myself, make friends, and have others appreciate me for who I am.”
Putting On A Clinic
For patients with rare diseases, especially kids, visiting doctors all the time can be overwhelming—and scary. That’s why the EB team at CHC offers a dedicated clinic twice a month where patients and their families can receive all the care they need in one stop, instead of having to dedicate multiple days to seeing multiple doctors each week. This way, kids with EB can receive their medical care all while interacting with other children with the same condition, an important reminder that they’re not alone. The clinic also offers a yearly winter adventure camp for children suffering from EB, where they can come together and form lifelong friendships with others who understand them.
A Colorado Woman’s Fight Against Ehlers-Danlos Syndrome
Twenty-seven-year-old Calla Winchell explains, in her own words, what it’s like to suffer from Ehlers-Danlos syndrome (EDS), a rare disease she self-diagnosed.
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“Since I was a kid, I was always prone to getting hurt, and I could stretch my skin more than usual. At 13, I Googled ‘stretchy skin disease’ and found EDS, and it just clicked with my symptoms. I sent an email to my doctor essentially saying, ‘I think I have EDS, and here’s why’ and was told to stop worrying and to start playing outside more. My symptoms persisted, and when I was around 17, I started experiencing chronic pain in my legs. I essentially referred myself to a rheumatologist at 19, since my doctor wouldn’t do it for me, and basically walked the doctor through the diagnostic criteria to officially diagnose me with EDS, which is a hereditary disorder that affects the strength of the body’s connective tissues. They told me I was the first person they had ever seen with EDS and didn’t know what to do with me, which I don’t think can be true. It’s not as rare as we think it is; it’s just rarely diagnosed. Since then, my symptoms have been nonstop. My shoulders are constantly hurting, and my right one has dislocated five times in the last two years. Beyond joint pain, I experience constant muscle fatigue. I also experience gastrointestinal issues. I went through a period where I tried three different medications for that; none of them worked, and I lost 31 pounds in a year. I know saying all these things doesn’t sound good, but I’m the healthiest I’ve been in about a decade, thanks to the Gates Center of Regenerative Medicine at CU and the Special Care Clinic at Children’s. That was the first time in my life that I didn’t have to be the expert about EDS. I’ve improved a lot. It takes a lot of privilege and access to get to this point, which I’m aware of in myself. You have to self-advocate when you have a rare disease, but what if English wasn’t your first language? Or if you have less access to medicine? Or maybe you have an intellectual disability? Those people deserve the exact same amount of care and can’t get it. Honestly? It’s very scary to have a rare disease.” —As told to Barbara Urzua
Is There A Cure?
There are 13 known types of EDS, meaning that not every patient experiences the same symptoms. The Gates Center of Regenerative Medicine at CU Anschutz has a strong research focus on finding therapies for EDS because of philanthropic support and the nationwide need for scientific advancement. That concentration includes a special care clinic where EDS patients can get individualized treatment. Dennis Roop, director of the Gates Center, says that a big part of the research involves finding the genetic basis of EDS. Currently, scientists aren’t sure which gene causes the disease; knowing that would be a big step forward in finding a possible cure. By studying the DNA of patients with EDS, scientists can screen for the origin of possible mutations. “Ultimately, the goal is to develop a stem-cell-based therapy, which, if it doesn’t cure it, would greatly alleviate the symptoms,” Roop says. The hope is that stem cells, injected into the patient in problem areas, could regenerate damaged cells and promote the growth of healthy ones, stanching much of the pain that patients such as Winchell suffer in their joints. While research takes a long time due to the necessity of clinical trials, Roop hopes that discovering the genetic basis of EDS is right around the corner, meaning that his team of eight experts could be just a few years away from clinical trials and treating patients.
What Medicine Has Taught Me
When Dr. Jennifer Taylor-Cousar, a pediatric and adult pulmonologist at National Jewish Health, was a child, she wanted to be A neonatologist. However, as a Resident, Taylor-Cousar learned about cystic fibrosis (CF), a disease that affects at least one in every 3,000 Americans. 5280 spoke with Taylor-Cousar about CF, other rare diseases, and what she’s learned in her career.
“Doctors in training used to be taught that cystic fibrosis was basically a death sentence for kids. Thanks to advances in medicine, people with cystic fibrosis can live long and healthy lives. But many doctors still don’t know that.”
“The medicine for cystic fibrosis is excruciatingly expensive, and unfortunately, some of the patients we see don’t have health insurance.”
“Most men with cystic fibrosis are infertile. We’ve had a lot of men referred to us because they were trying to start a family and weren’t able to, and they didn’t even know they had cystic fibrosis. Sometimes they were misdiagnosed with asthma or lung disease.”
“Being part of the Racial Justice Group for the Cystic Fibrosis Foundation, we’ve encountered a lot of people within the cystic fibrosis community who have faced tough situations because of their race. We even heard one of our community members state that a doctor told him, ‘I would have thought you had cystic fibrosis, but you’re Black.’ This racism and discrimination are still very much alive.”
“I’ve developed really close, personal relationships with my patients. I still remember the first patient I took care of as a resident. She was only 16. Watching her grapple with the fact that she was dying was horrendous. It’s hard to not take that stuff home.”
“I’ve been to a lot of funerals over the last 10 years. More recently, there have been a lot less.”
“One patient who really stands out to me was a young woman who was having an incredibly hard time with [making the transition from the children’s clinic to the adult clinic]. Her health suffered because she often chose work and friends over therapy. She gradually learned to balance all the different aspects of her life in a way that prioritized her health. She [has now] qualified for a new, incredibly effective medication for CF called Elexacaftor. She has come such a long way.”
“One of the most difficult aspects for parents of children with rare diseases, especially if the disease has a genetic cause, is the guilt.”
“I am truly amazed by the parents who, clearly out of love for their children, still find the strength and resilience to volunteer to fundraise for new research, or advocate to raise awareness, or serve on committees to ensure the patient voice is heard.”
“At a conference in 1966, Dr. Martin Luther King Jr. said, ‘Of all of the forms of inequality, injustice in health care is the most shocking and inhumane.’ If I could wave a magic wand and fix one thing in the field, it would be to ensure equitable and unbiased diagnosis, care access, and treatment to every individual who needs it.”