Why did we develop RareEd?
Thirty million U.S. Americans (1 in 10) have at least one rare disease and half of those are children, yet a preliminary search on Google of rare disease educational materials will return one or two programs/courses for high school or college level students and only a few more for medical students and physicians. Prior to development of RareEd, there were no courses for children about rare disease. When about 15 million children are affected by these diseases, they ought to have access to materials that help them and their peers to understand what they are going through. Rare disease can be an incredibly traumatic and isolating experience for a child and by giving them the knowledge and background provided in this course, we are hoping to help ease their burden and provide the awareness and acceptance among their peers that is so desperately needed for every child with a rare disease.
What makes a disease rare?
Rare diseases are defined as medical conditions affecting fewer than 200,000 people in the U.S. (some other countries and the EU have similar but slightly different definitions). Although they are each rare, there are altogether about 7,000 different types of rare diseases, the majority of which are serious and/or life-threatening. This number may also be a gross underestimate, because only a few types of rare diseases are tracked in the U.S. once they are diagnosed. These conditions include certain infectious diseases, birth defects, and cancers (almost all cancers are rare, and all pediatric cancers are rare). Because most rare diseases are not tracked, it is very difficult to estimate the exact number of people who have a rare disease.
Who does rare disease affect?
Collectively, 30 million Americans total have a rare disease (1 in 10 people, or one in every elevator, or four on every bus) and about half of those diagnosed are children. This is a large enough population to begin with, but in truth, the total number of people affected by rare disease is much greater. When you take into consideration the community surrounding the rare disease patient (family members and primary caregivers, friends, and secondary caregivers {i.e., teachers, doctors, and other leaders}) it is quite possible that the majority of the U.S. is affected by rare disease, making it a growingly important public health concern. (NOTE: there are no current exact numbers on the amount of people who know someone with a rare disease).
RareEd application: Students will participate in a mapping activity to visualize the population of people who have a rare disease (just the patients) and those who are affected by a rare disease (patients + their communities), to demonstrate just how many people are truly affected by rare disease and how important it is for them to know about and understand rare disease.
What causes rare disease?
Although the exact cause of many rare diseases is unknown, about 80% of rare diseases are known to have a genetic origin, meaning that they are caused by changes in the DNA of the body’s cells (these changes are called mutations). DNA is the “instruction manual” for the body and tells it what proteins to make where, in order to produce the cells of the body. A mutation can be characterized as a skip or addition in the DNA sequence, or a “misspelled” section of the genome, resulting in the coding of the wrong protein or lack of protein production needed for proper cell functioning. DNA is the “recipe” for all cellular activity and regulation; without it, the cell has no map or instructions to follow, causing the cell to function improperly. Although most mutations are inherited (meaning that the affected person is not the first one in the family to have the disease), some other mutations are novel, or new (meaning that the affected person is the first in their family to have the disease). When the instructions (DNA) are changed in the cell, it ceases to function properly, producing a myriad of symptoms.
RareEd application: When students are taught about cells, cell function, and mutations, the analogy of a cookie recipe is used to illustrate how mistakes (mutations) are made when the recipe (DNA) is copied incorrectly, producing a recipe that will not give delicious chocolate chip cookies (healthy, properly functioning cells), but rather cookies that do not taste or look how they should (cells that do not function properly).
NOTE: Rare diseases may also be caused by triggers other than mutations, such as infections, bacteria, toxins, acute injuries, faulty immune responses and other non-genetic origins, but this is less common, and because they are not well understood, these causes are not covered by this course.
How are rare diseases diagnosed?
Rare diseases are nebulous tangles of symptoms and medical history that can take many years and many doctors to untangle. Rare diseases are often not well understood or defined by the medical field and as a result, a rare disease diagnosis may take many years to achieve. The average time for diagnosis of a rare disease patient in the US is about 7-8 years, with 2 or 3 misdiagnoses and an average of 8 physicians along the way, with many more specialists after diagnosis.
Physicians first usually try to diagnose any disease based on a set of symptoms and clinical testing (like imaging, blood tests, and family histories). This may prove difficult when trying to diagnose a rare disease, as doctors are not frequently accustomed to the many sets of symptoms associated with the 7,000 rare diseases. This is where a lot of the “passing around” of the patient occurs, from specialist to specialist. Patients may eventually be diagnosed by a specialist (or an avidly researching parent) who recognizes the symptoms of a rare disease, or they may eventually undergo genetic testing.
Genetic rare diseases are often either diagnosed or confirmed by genetic testing of a small sample of blood, hair, skin, or amniotic fluid (for suspected diseases in unborn babies). Once the sample is taken, results usually arrive within 2-4 weeks (longer if done by a research center rather than a commercial lab). The results of genetic testing can tell you what kind of mutations you have and in which genes. If any of your mutations are known to be pathogenic (disease-causing) then a diagnosis may be reached. NOTE: not all mutations are pathogenic or disease-causing. The average person has a total of 60 genetic mutations, most of which are benign or neutral (like those that cause blood type or red hair), and a very small amount may even be beneficial (like those that make some groups of people resistant to Malaria).
Some patients, even having gone through many years of testing and specialists, still remain undiagnosed. This subset of patients may include some of those 20% whose rare diseases do not have a genetic origin, as well as those whose diseases have not yet been genetically linked (most likely due to a lack of research on that disease). Not having a diagnosis (and thus a prognosis) can take a huge toll on the mental health and quality of life of the patient. That is one of the reasons why the research aimed at understanding the origin of rare diseases is just as important as the research aimed at finding treatments for them.
What does rare disease look like (symptoms)?
Because rare diseases are caused by numerous different mutations that occur in all different parts of the DNA, the symptoms of the more than 7,000 rare diseases, in general, are limitless in their diversity. Some rare disease symptoms are apparent at birth and some do not occur until later in life. Each rare disease is characterized by a unique set of symptoms, but that does not mean that each patient with a particular rare disease will have all of those symptoms (some may have more, and some may have less). Also, some rare diseases are so scarce (with only a couple or in some cases even just one person affected) that there is no set of defined symptoms or prognosis for that disease.
Symptoms of rare disease vary wildly from one or a few small symptoms to many very serious symptoms depending on the patient and type of rare disease that they have. This variation doesn’t just occur from patient to patient but can also occur in a single patient as his or her condition deteriorates or gets better. This variation in a single patient does not always occur, but it is important to note that it can, and often does.
Symptoms may also vary in visibility; sometimes you cannot see that a person is dealing with a particular symptom like pain or fatigue (invisible symptoms—thoughts, feelings, sensations, or internal functions), and sometimes symptoms are very obvious, such as problems with speech or malformed anatomy (visible symptoms—appearance or behaviors). Invisible symptoms pose a unique challenge for the rare disease patient because they are symptoms that are often either not considered or believed by physicians, family, friends, etc. simply because they are unseen. In our RareDiseaseEd course, we use the analogy of a broken car engine to illustrate that just because you cannot see that the engine is broken, does not mean that you can expect the car to run perfectly (or at all).
Some symptoms may fall into both categories (visible and invisible) depending on the situational context; for example, you cannot see that someone is hearing impaired, unless they are wearing hearing aids or having visible trouble communicating with you.
Another special consideration is that a rare disease patient may also have entirely invisible symptoms. In this case, they have what is known as an invisible illness (NOTE: the term “invisible illness” applies to chronic illnesses/disabilities in general, and not just to rare diseases). Just because you cannot tell from the outside that this person is sick, this does not mean that they are not sick. They are still suffering from significant diseases. The symptoms that they are experiencing are just occurring entirely within the body, rather than also appearing visibly on the outside. These patients include those with allergies, pain conditions (like CRPS, arthritis, and fibromyalgia), neurological disorders, some psychological disorders, and chronic fatigue syndromes/sleep disorders, among many others. Invisible illnesses make up a large part of the 7,000+ rare diseases. These patients commonly deal with the accusation that “they are not sick, because they do not look sick.” This harmful misconception devalues the everyday struggles that these individuals with invisible illnesses are facing. You cannot see that someone is in severe pain if they have appendicitis, but the majority of people will believe that they are if told so. In the same way, it is important to believe in the symptoms of someone with a rare disease, even if you cannot see them. You may be thinking that you would be able to “see” someone’s pain in their facial expressions/body language, however, because these patients do not “look sick,” they are expected to behave “normally”; consequently, they often develop an innate ability to cover up or hide their symptoms (even when they are particularly bad) in order to fit into the expected “normal” that they appear to portray.
It is important to note that invisible symptoms have real biological impacts; the only difference between visible and invisible symptoms is that the biological impacts of invisible symptoms occur entirely within the body, out of sight of our eyes.
RareEd application: Because there is no way to teach 7,000+ different lessons about each rare disease and its respective nuances, students are instead taught in this course to consider each individual’s unique set of symptoms. Particular focus is put on the idea of visible vs. invisible symptoms, using a car as an analogy to the human body. Students are taught that visible symptoms are those that can be perceived by someone other than the person with a rare disease (i.e., appearances and behavior, like malformed/missing limbs, trouble walking/talking, hyperactivity, etc.). The analogy of a scratch on a car is used to help students visualize what that would look like.
Invisible symptoms, on the other hand, are those that cannot be seen by an outside person and can only be perceived by the rare disease patient (i.e., thoughts, feelings, sensations, or internal functions, like pain, fatigue, depression, etc.). The analogy of a broken engine piece is used to help students grasp this idea (the engine is still broken even though you cannot see that it is, from looking at the outside of the car). Students are reminded that invisible symptoms are just as important to believe in as visible symptoms. They have real, biological impacts; the only difference is that the biological impacts of invisible symptoms occur completely inside the body, out of sight of our eyes. Students are encouraged to think critically about when symptoms would be visible, and when they would be invisible, through a sorting activity. They will also discover that some symptoms can be both visible and invisible depending on the context and just because they are invisible in one situation does not mean that their impacts disappear for the rare disease patient.
What are the treatments for rare diseases?
Treatments and other coping mechanisms for rare disease patients vary as wildly as the symptoms they attempt to treat. Only 5-10% of rare diseases actually have a standard of care treatment approved by the FDA (U.S. Food and Drug Administration). Consequently, the majority of rare disease patients will try many different treatments to remedy their symptoms, a large number of which are “off-label” (those treatments not approved by the FDA for the specific disease the patient has). The problem with “off-label” treatments is that they can often lead to financial burdens, since most insurance companies will refuse to reimburse this type of treatment. Treatments for rare disease can include everything from medications to supplements, behavioral or physical therapy, mobility aids (like wheelchairs, crutches, and braces), medical devices, and surgeries, among others. There is no one way to treat every rare disease. Even patients with the same rare disease may need treatments that are completely different from one another.
RareEd application: Students learn about rare disease symptoms and treatments in the same lesson. Similar to symptoms, students take part in a sorting activity for treatments to illustrate that they can be visible or invisible as well (see What does rare disease look like? above). Students are also taught that one symptom could be treated by many different treatments and, similarly, each treatment can potentially treat many different symptoms.
What is being done already to help those with rare disease?
There is currently a push to provide more research and development related to rare disease treatments. In the recent past, this movement gave rise to the Orphan Drug Act of 1983, a law passed in the U.S. which aimed to facilitate development of orphan drugs (drugs for rare “orphan” diseases). This law provides certain manufacturing and distribution benefits to founders of drugs and compounds used to treat rare diseases. Still, many rare diseases are left under-/un- researched, and advocates continue to lobby for more funds and studies for rare disease research. Our lab here at Calvin University currently has projects aimed at studying the molecular basis of GRACILE Syndrome, Bjornstad Syndrome, and Complex III Deficiency, three distinct, yet overlapping, rare diseases caused by mutation(s) to the BCS1L gene. To read more about our projects, click the “Research” tab (links to research updates for other are diseases can also be found on this page).
Where can I learn more about a particular rare disease?
If you are interested in learning more about a particular rare disease, The National Organization for Rare Disorders (NORD) offers a database of approximately 1,300 reports on specific rare diseases written in patient-friendly language on its website, www.rarediseases.org. The most complete listing of rare diseases in the U.S. is on the website of the NIH Genetic and Rare Diseases Information Center (GARD), rarediseases.info.nih.gov/diseases.
What can I/my child do to help those affected by rare disease?
The best and easiest way to assist someone with a rare disease is to offer empathy, support, and inclusion. Patients—children particularly, but not exclusively—with rare diseases can often face bullying and exclusion for their differences and/or limitations. Even the smallest friendly gesture (inviting them to share a meal, having them over, participating in accessible activities together, etc.) can make a big impact.
Those without rare diseases often want to “help” rare disease patients, even though the patient may not ask for it. Even though this sentiment is well-intended, generally speaking, patients do not want “help” if it hasn’t been solicited, in that they do not want you to do things for them that they can already do themselves (this can take away from the already limited amount of independence they most likely experience). Instead, making small accommodations to include them in your everyday life (as in the examples above), is much more meaningful.
Caregivers also need significant support. Studies show that the mental health of caregivers is just as affected by rare disease as the children they care for. In some cases, their worries, anxieties, and stresses are even greater than those they care for. Continuous attention and supervision, long or complicated treatment regimens, and countless doctor’s visits, among things, put a huge strain on caregivers’ energy and emotional wellbeing. For most caregivers, receiving encouragement, a listening ear, or a couple of frozen meals can make a huge positive impact on their mental health and quality of life. You can read the above referenced study at: https://globalgenes.org/wp-content/uploads/2013/04/ShireReport-1.pdf.
To help support those with rare disease and to learn more yourself, consider printing off the Global Genes Rare Disease Facts Sheet to hang up in your classroom, business, or home: https://globalgenes.org/wp-content/uploads/2015/01/WRDD_factsheet.pdf. If you are interested in getting more involved in rare disease advocacy, a good place to start is: https://rarediseases.org/get-involved/educate/raise-awareness/ NORD’s page for awareness and advocacy materials.
RareDiseaseEd application: Students will participate in an empathy-building exercise where they will draw rare disease patients (open-bodied stick figures) and attempt to identify how that patient might be feeling (sad, lonely, scared, etc.). They will then be encouraged to identify ways in which they might be able to help the rare disease patient (hospital/home visits, writing cards, listening, playing games together, helping with chores, etc.). If the student knows someone with a rare disease, their parents/teachers are encouraged to consider helping them do one or more of these activities. Students will also add other stick figures to their drawings to represent the communities surrounding the rare disease patient (particularly the caregivers) and asked to identify ways they may be feeling and similar ways that the students could help.
What does it feel like to have a rare disease?
It is truly impossible to get it unless you’ve got it. Each patient’s experience is a completely unique one, and no one story of rare disease will sound the same. However, there are common threads, and The Spoon Theory, by Christine Miserandino, does a beautiful job of illustrating the common toll of the incredibly draining extra challenges and considerations that those with a chronic condition or rare disease must face every single day. It is a powerful short story which you can find here: http://www.phna.info/spoon-theory.html. You can also read more stories from patients and families, including Harper Heck’s story (the young rare disease patient our lab is dedicated to) by clicking on the “Patients and Families” tab on our website and visiting the “Stories” section.
What is Rare Disease Day?
Another great way you can show your support is by participating in Rare Disease Day, a world-wide awareness event on the last day in February every year. Rare Disease Day aims to focus public attention on rare disease as a public health concern, by getting patients, their families, caregivers, researchers, advocates, and others involved in storytelling, media interviews, posting stories, videos, and blogs online, hosting or attending events, and taking part in educational initiatives in classrooms and on college campuses. A wide range of activities are planned and completed to celebrate this important day. To learn how you can get involved visit, https://www.rarediseaseday.org (the global site) or www.rarediseaseday.us (the U.S. site).