Why and How to Care about Rare Diseases
Photo courtesy of Hope Hallie Rose
By: Kayla Ingram
Those fortunate enough to bear a relatively blank medical record don’t consider the experiences of people with rare diseases until it affects them directly in some way. Rare diseases is a subject that deserves much more attention than media and common knowledge gives it, as these diseases have reached many more people than commonly thought. These illnesses often create unique problems and issues for those living with such illnesses, and their families. But there are ways we can support those with rare diseases, the first of which, is being educated.
According to the National Institute of Health (NIH), a disease can be classified as rare if it affects fewer than 1 out of every 200,000 people in the US. NIH currently has over 7,000 diseases classified as rare; 50 percent of those who face these diseases are children. Recent numbers indicate that more than 30 million people suffer from rare diseases in the US alone. This number does not include undiagnosed patients, and if it did, it would likely be much higher.
Receiving a diagnosis is one of the largest unique issues for those with rare diseases. This is in part due to the obvious fact that many doctors are unaware that these diseases exist, or do not have enough understanding of them to diagnose.
“The first challenge was obtaining a correct diagnosis which is excruciatingly difficult with rare diseases. For the most part, doctors in medical school focus on common conditions. Therefore, if they hear hoofbeats they look for horses. That is why Hallie and her fellow rare disease patients called themselves ZEBRAS,” Jerry Brody, the retired Vice President for Student Life at Southwestern, said about his daughter Hailey and the challenges she faced while living with a rare disease called Ehlers-Danlos Syndrome (EDS).
Another reason diagnosis can be so difficult for patients and doctors is because for many of these diseases, every patient will have different symptoms. No two cases of the same illness will result in the same, or in some cases, even remotely similar signs. Often times the symptoms a person suffers from will be very common, leading to many misdiagnosis and delays in treatment, all while the diseases progressively worsens.
“I was diagnosed withPostural Orthostatic Tachycardia (POTS) last January after nine painstaking years of tests and doctor visits (often several a day). I saw 26 different kinds of doctors and none of them could figure out what was wrong with me, but they all ran tests and drew blood every visit. I’ve had some of the strangest procedures and tests run that you could imagine,” Lindsey Cook, a First Year in college and close friend to an SU student, said about her own journey towards diagnosis.
The problem with diagnosis and identifying symptoms can be confusing and frustrating for everyone affected by the rare disease. Finding the right doctor is a vital, sometimes impossible step. Specialists can end up overbooked, might not even exist, or could be far out of a family’s financial ability.
“Many, including our daughter have had doctors accuse them of making things up, or say that this is over their knowledge base and dismiss them as patients. Also, because there are so few, it can take over a year to get an appointment with a doctor who specializes in a rare disease. We never were able to find a primary care doctor who would keep Hallie as a patient permanently. We needed someone close by willing to work with the specialists from across the country. We did not succeed,” Brody said.
In addition to diagnosis, chronic pain is a very common issue for people with rare diseases like EDS and POTS. Constant pain can be very debilitating and severely decreases quality of life for many people with rare diseases. This problem is exacerbated by the government’s prohibition of marijuana in an effort to stop drug abuse. The crackdown is causing people with chronic pain to struggle or even fail to receive appropriate doses of medication for the extended periods with which they need them. The legality of medical marijuana is another concern, as the denial of this painkiller legally leads some patients to use illegal methods to obtain it (as it may be the only medication that can help chronic pain). Jerry Brody remarked that this is particularly true for patients with EDS, and that the legalization of medical marijuana in Texas is a definite concern in the community.
The people living with rare diseases and their family face many unique and difficult struggles, in spite of how large and personal some of these issues sound, there is actually a lot that we can do to help. Some of the more obvious steps that can be taken include advocating for the legalization of medical marijuana in Texas. There is also a Rare Disease Day that takes place on the last day of every February (occuring on February 30, the rarest day of all, whenever it comes) that people can definitely take part in to spread awareness. You can also help by donating to groups like the Ehlers-Danlos Society (for EDS), the National Organization for Rare Diseases (NORD), and dysautonomia international (for POTS). Some other ways to help include just being educated and supportive when you can.
“You can show support by understanding the disease and that the disease does not define the person. I’m a person with a disease, not a diseased person. When I’m having symptoms I have to take it easy and I’m always afraid people will think I’m being lazy. Understanding is the best way to support a person with a disease,” Lindsey Cook said about ways people can help those living with illness.
Brody’s daughter Hallie administered a Facebook page called “Hope for Hallie Rose,” which connected “zebras” with rare diseases across the globe. Brody encourages Hallie’s survivors to continue her efforts to raise awareness about rare diseases and to talk to people with rare diseases.
“You can help by educating others. Individuals, even friends tend to shy away from people with disabilities just when they are most needed. Rare disease can create isolation. Walk towards, not away. Hallie was courageous, compassionate, joyful and loving. Despite everything she endured, she had an indefatigable positive spirit. She was an inspiration to hundreds of individuals with rare diseases and to her brother, mother and me. She made fun out of the most ordinary things. I am proud to be Hallie Rose Brody’s Dad,” Jerry Brody said.
Rare diseases are the difficult reality for many people around the world. The issues people with rare diseases face are often ignored when they shouldn’t be. If everyone with or without rare diseases spread education about these problems, we can achieve change for those lacking resources and proper medication. Sharing medical research and insight across nations, the legalization and appropriate access to necessary drugs, and a kind, understanding, supportive community, through knowledge and compassion we can make strides towards achieving all of these things. We can work to build a better, more accepting Southwestern community in taking part in Hallie and others’ efforts to walk towards and not away from rare diseases.
For more information see