Rare Disease Day

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How are you honoring Rare Disease Day?

<p>How are you honoring <a href="https://themighty.com/topic/rare-disease/?label=Rare Disease" class="tm-embed-link  tm-autolink health-map" data-id="5b23ceb000553f33fe99b3c3" data-name="Rare Disease" title="Rare Disease" target="_blank">Rare Disease</a> Day?</p>
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Community Voices
Community Voices
Gina Baker

Remember People Like Me on Rare Disease Day -- and Every Day

The 300 million people living with rare diseases seldom receive appropriate medical treatment. Unlike common chronic diseases for which there are often established and constantly evolving treatments and interventions, those with rare diseases largely struggle to cope with symptoms on their own. This has a devastating effect not only physically, but also, emotionally. Many are often never accurately diagnosed despite dozens of failed attempts and countless consultations with doctors and specialists. When no empirical data for our symptoms is found, we are given psychosomatic diagnoses of depression, anxiety, and other mental health disorders. Ultimately, doctors give up on us and worse, often blame us for our own condition. Even making accusations of self-inflicted illness such as Munchausen syndrome or labeling us with factitious disorder or conversion disorder. I want doctors and medical professionals to know that many of us are living poor quality, marginalized lives due to the limitations of our health and because of a lack of efficacious treatments. We are debilitated, declining, and progressively dying, often living in isolation and poverty without resources and social support. I want people to know that those of us living with rare diseases are strong, courageous, resourceful, and resilient. We have no choice but to be. Otherwise, we would surely be dead. We must dig deeper, try harder, and persist longer for minimal results than most people will ever be called upon to even in pursuit of praiseworthy goals. If our efforts were commensurate with accomplishments, we would be the movers and the shakers of the world. It doesn’t have to be this way. Science and technology are advancing by leaps and bounds. The swiftness with which Covid 19 vaccines were developed shows what can be accomplished with an urgent cooperative effort. There must be a return to an altruistic medical ethic. Those suffering the most must have equity of access to the scientific advancements that have already been made. Every person who has a complicated unsolved medical history should routinely be seen by a geneticist and have DNA studies done with all variants identified and put into a universal data bank that matches variants and symptoms. Existing treatments for known diseases must be expanded for more uses. We must have compassionate use of treatments and “the right to try” treatments that have shown promise. In short, the medical establishment must not give up on us or ignore us. We have a right to the best quality of life we can have. In the 21st century, it is incomprehensible that millions with so much potential and such a strong desire to live productive lives are languishing.

Lisa W.
Lisa W. @lisamighty
contributor

Celebrating Our Supportive Community on Rare Disease Day

Rare Disease Day feels different this year. We’re in the thick of it. In past years, we supported the day in solidarity with other rare families and in celebration of my son Z’s good health. Managing his condition had only required check-ups with specialists while waiting for him to be old enough to tackle eye and head surgeries. We felt connected to the rare disease community, but not exactly part of it. But now we’re in it, the dense jungle of fighting for a medically complex kid. Doing research, finding specialists, getting referrals, making appointments, setting up travel, dealing with insurance — that’s the easy part. The harder, and more important work, is supporting Z through the fear and anger surrounding exams and procedures and surgeries. We knew all of this was coming (“at some point,” as Z likes to say), but nothing prepares one for the emotional, mental, and physical toll of a season like this. Thankfully, we have support. From friends and family, other parents dealing with anything “extra” like ADD and Autism, and others with rare diseases. The funny thing about rare disease is that it’s not rare. A disease is considered rare if less than 1 in 2,000 people have it. Z has two genetic conditions, and his combination is 1 in 1,000,000 chance. (He really is one in a million!) But in total, 300 million people are living with a rare disease. Which means rare is actually many, and we personally know families facing multiple sclerosis, Fanconi anemia, trisomy 9, and more. They’re an incredible source of strength. We’ve also found support from total strangers. When Z was a baby, I shared our story on The Mighty. Three years later, a young mom reached out to me on Facebook. She’d read the article and was struck by how similar her daughter’s prognosis was. Z’s story had been a source of hope for her, and she returned the gift by encouraging me to join a Facebook support group for linear nevus sebaceous syndrome (LNSS). That group has been welcoming, generous, and so informative. After four and a half years, four medical systems, and three insurance companies, Z was finally seen by a doctor with actual experience in his rare condition. All because of a referral on that Facebook group, because of another mom reaching out, because I shared our story on The Mighty. To me, that is the definition of community. So yes, we are in the thick of it with medical stuff. But we’re also in the thick of a community of caring, helpful people supporting us every step of the way. And that makes all the difference.

Samantha Moss

Turning the Rare Disease Stones on My Back Into Balloons

I was listening to a sermon on Sunday morning, well only half-listening really, but the preacher made an interesting comment, causing me to listen a little more intently than I had been. (Note to self: Having church at home requires discipline and means not having your phone in your hand, reading posts from members on your FB support forum!) He said something like, “ We need to turn the stones on our backs into balloons.” The image for me was a powerful one. I immediately thought of the combination of chronic illness and my idiopathic rare disease as being a huge stone on my back and shoulders. I visualized not just one stone but a cluster of stones, with each stone representing a different diagnosed disease or a set of symptoms. As I imagined those stones, I could feel their heaviness. I could feel the weight of all I’ve lost as a result of my declined health and disability. I could see how stones had been added with each health crisis over the years. In my mind’s eye, these stones were grey in color. They were of no particular shape, slightly rugged, but mostly smooth. I think the smoothness was my attempt to accept them and make them easier to carry. The more I looked at the image of those stones on my back, the more I knew they didn’t belong there. It’s not how I want to live my life. I don’t want to feel only the heaviness of the stones. I want to find a way to release them, to breathe, to live the best life possible. I want to turn those stones into balloons! Get These Stones Off Me Now! I suddenly felt a sense of urgency to take my focus away from the grey heavy stones. I needed to replace them and I had been given the key. “Turn the stones on your back into balloons.” As my mind turned to the image of balloons, I saw color. Red, white, pink, yellow, blue. As I focused further on the balloons, the colors of the rainbow appeared. The colors of hope for a brighter future. As I thought about removing the stones from my back and replacing them with these balloons, I began to feel lighter, happier and I had a sense of freedom. Balloons allowed me to fly, despite my disease. A sense of peace replaced a sense of burden. I realized as I focused on the balloons in my mind, I was having a physical response. I was smiling from ear to ear. I was literally feeling relief. Balloons Versus Stones Let’s face it, adding stones happens naturally. It’s hard not to feel burdened by chronic illness and rare disease. They control so much of our lives, day after day. Replacing those stones that have made a nice home for themselves on our backs requires commitment and determination. It’s so worth it, though. So what do the balloons represent? It’s likely different for all of us, but here are some of the things on my balloon list: • A mindset to focus on “what is,” not  “what if” • Regular drives in the country • Shopping trips in my new wheelchair • Cafe lunch dates with my husband • Morning or afternoon visits from friends • A new home fully appropriate for my disabilities • A local holiday for a few nights My balloon list is colorful and allows me to fly. In my mind, I have rolled those stones away so there is no way the balloons can burst. Our burdens are real. Our diseases can be cruel. There is no denying it. The more we allow our thoughts to stay focused on our diseases, the heavier and bigger the stones will become. The image of replacing the weight of chronic illness with something light, like balloons, can be such a useful tool when you are feeling the sheer weight of your situation. It’s not to trivialize the seriousness of your health issue, it’s simply to help you cope as you live with it. Ultimately as you turn the stones on your back into balloons, you will hopefully feel lighter, a more positive outlook may return, and an inner joy you felt incapable of feeling again may begin to flicker. It’s Rare Disease Day on February 28. Let’s use this day to not only raise awareness, but also to encourage each other to turn our stones into balloons.

Community Voices

“Alone we are rare. Together we are strong. ” This is the trademark for the National Organization for Rare Disorders, Inc. (NORD), US Sponsor of International Rare Disease Day. NORD is one of over 66 National Alliances (rare disease patient advocacy organizations) representing over 100 countries and regions all over the world, referred to as “Rare Disease Day Partners.” The month of February was designated “Rare Disease Awareness Month” by the European advocacy group “EURODIS” in 2008; that year, the first International Rare Disease Day was held on February 29. EURODIS acts as the central coordinator among the “Rare Disease Day Partners,” patients with rare diseases, and the global community at large to create unified messages and visual materials to raise awareness for rare diseases and the individuals who live with them. “Rare Disease Day” is a recognized day created to bring awareness and subsequent empowerment, community, and equity to over 300 million people worldwide fighting any of approximately 6,000 known rare diseases. This February marks the 15th “Rare Disease Awareness Month,” and February 28 will be the 15th annual “Rare Disease Day.” Ultimately, the objectives of Rare Disease Day are to ensure equal access to treatment and healthcare, to create more equitable social opportunities for those fighting rare diseases (higher education, jobs, etc.), and to simultaneously reduce stigmatization through social inclusion. Furthermore, through raising awareness, EURODIS and its Rare Disease Day Partners aim to find means to fund research for more effective and life-saving therapies as well as to minimize the time it takes to diagnose a person with any given rare disease. 
 
“Rare Disease Day” utilizes the narratives of “real life Rare Disease” “heroes” to identify common challenges faced by those with rare diseases to connect patients as well as their caregivers into a strengthened global community. For 2022, there are 16 “hero” community members from around the world who have agreed to share their stories with the world for the purposes of rare disease advocacy (rarediseadeday.org). Every Rare Disease Day bas a specific “Call to Action;” for 2022, the Call to Action has been named “Share Your Colours;” a means of representing individuals with rare diseases utilizing vibrant colors to express positivity, strength, and diversity of the individuals who make up the 300 million rare disease patients worldwide. By utilizing art and simple creative images, this “Rare Disease Day” will become accessible to many more people throughout the world.

Please read Part Two!

Community Voices