Rare Disease Day 2016
By Patricia Colbert
February 29 is a rare day, only getting a place on the calendar once every four years. It has a sunrise, sunset, and lasts 24 hours like all the other 365 days of the year. Yet, since it is an abnormality, it is rarely spoken of when it is not leap year. It makes perfect sense that Rare Disease Day is observed February 29 (February 28 on non-leap years.) To those of us who have a family member with a rare disease, we understand what it’s like to feel forgotten at times.
Our loved ones have life-threatening illnesses, yet they do not receive the same respect as patients fighting diseases that are widely publicized. We spend more vacation days in a hospital room than a hotel room. More of our time and income is spent on healthcare than recreation. Instead of enjoying novels, we read medical journals. Purchasing event tickets is always a gamble as they often go unused. Any type of excursion requires extensive, detailed planning with military precision.
Yet people have never heard of our disease. We have sacrificed for years, even not exchanging gifts at times, to pay for healthcare costs and treatments to keep our loved ones alive. We are glad when we see families receive immediate support when they battle a well-known disease; we support and even chair fundraisers for these diseases for we understand the struggle. We mourn the loss of family and friends from these illnesses and will continue to support research for all diseases. We just feel completely left out at times. It is very isolating when people seem indifferent to the severity of a life-threatening illness.
We witness an unending paradox as the same people who post ice bucket challenge videos and wear pink in October often show no interest in supporting members of their own community. We watch a school support better-known diseases yet not support their own student when she fights for her life. We see teachers publicly rebuke students for doctor-excused absences and not having every assignment complete upon returning to class after emergency hospitalizations. Children and Youth Services was even called to the school and home of a student for missing school due to kidney failure. An apology after seeing the doctor’s excuse did not undo the severe psychological damage. The student softly said that maybe it would have been better if she had lost all of her hair during chemotherapy or if she had used crutches when walking caused her unbearable pain. Some people seem to think that a disease can’t possibly exist unless they have heard of it or can physically observe it.
We don’t mind explaining our disease; we welcome the opportunity to spread awareness as misdiagnosis almost cost us our child’s life. She gained 16 lbs. of fluid overnight, some on her lungs, and fought for her life 17 days out of town, completely isolated from her friends. Instead of a Welcome Back sign when she returned to school, she found herself blacklisted. Bloated from her disease, my sweet nine-year-old was teased, bullied, and even accused of being pregnant. This led to an eating disorder, depression and low self-esteem. Despite testing that placed her at the very top of her entire grade in Math & English, she was suddenly overlooked for academic opportunities because the school decided the advanced work she had previously been provided was too much for her to handle. Consequently, she struggled with boredom and low self-confidence. I watched every girl on her sixth-grade cheer squad run right past her with overnight bags, laughing as they loaded into a van. Still walking, my girl stated, as a matter-of-fact, “I guess there’s a party.” It was our new normal.
I thought high school would be better, but the cliques were even worse and having a rare disease that affected attendance and deadlines still made a student ineligible for academic opportunities and honors, regardless of qualifications. Some people became quite hostile when my child’s health was a higher priority than school. Most didn’t believe that medications and chemotherapy treatments affected my child’s ability to think clearly, despite the research that confirms it. One teacher actually yelled at me on the phone so loudly that my girl came in from another room with a bewildered look on her face. She was further victimized as her grade in that class dropped dramatically as a consequence of the hostility.
Most rare diseases and their treatments compromise the immune system. Colds and virus are easier to catch and take longer to recover, especially when some over-the-counter medications cannot be taken. An illness may even cause a relapse of the disease. We cringe when someone coughs on us. Most medications have severe side effects, such as: fatigue, nausea, brain fog, mood changes, and excruciating pain; in addition, they have not been thoroughly tested on children. Patients see different doctors in different cities as they must also be treated for side effects of the disease and treatments. The physical impact of a rare disease alone is overwhelming; the mental, emotional, social and academic impact is often heartbreaking.
My daughter even had a near-fatal reaction to a treatment, resulting in an emergency ambulance ride out of town and a week in ICU as she battled serum sickness. She is running out of treatment options.
Unfortunately, thousands of people are fighting rare diseases. It can take years for a diagnosis and several more years to find the right treatment, if at all. Most rare diseases affect children, who are forced to grow up years ahead of their classmates and face trauma worse than many adults. The best, most understanding friends my girl has are fighting their own rare disease. These children are amazing, strong and care about others in a way that sets them apart. The best of our youth deserve better.
Rare diseases deserve the same respect as familiar diseases. A child with Nephrotic Syndrome like my daughter deserves to be cured as much as everyone else. Most rare diseases have no cure. In order to find a cure, we need more funding for research. In order for these children to be treated more humanely, we must educate the public.
This February 29, please remember Rare Disease Day.
Make a donation to fund research for a rare disease.
Research a disease that is unfamiliar to you, especially if affects someone you know.
Contact a person with a rare disease and offer to help with homework, a chore, errand, or just to listen.
The disease may be rare, but awareness should not be.