By Allison R.
My ultra-rare disease, Cryopyrin Associated Periodic Syndrome (CAPS) has been isolating, defeating, and has made me feel helpless—but not hopeless. It has caused changes of career paths and life plans that were dreamed of and worked on for many years of my young life. There are constant challenges and fears surrounding providers, treatments, medications, and insurance. It affects every aspect of my life, even though I try not to allow it to impact every aspect of my life. While my diagnosis does not define me, it does limit me.
With rare conditions come challenges, but these challenges are just waiting for solutions. Together, the public and the rare disease community can advocate for solutions to the many challenges that patients face.
One of the many struggles patients face is having an invisible condition. This is when the public may not know you suffer from a debilitating condition, so they just assume you are young, able, and healthy. An invisible condition may include years of symptoms and clinical and/or genetic workups before a diagnosis is made. Some other struggles include lack of continuity of care, as many of the providers specializing in rare conditions are pediatric providers. Thus, during the time of adolescence or young adulthood, the transition of care could be rough. In addition, many patients with rare conditions must travel out of state for medical care, which can be costly. Traveling with various medications, especially injections or medications on ice can be very difficult due to their sensitive nature. While these are just some of the few examples of the challenges that I have faced as a rare disease patient, these are not all, and no journey is exactly alike either.
If I could give the rare disease community advice, it would be to use your voice and advocate for yourself and other members of the community. Advocacy can be sharing your story, which is key to bringing awareness of your specific rare condition. Another aspect of this, if possible, is participating in as much research as is being conducted on your condition. This is essential and can help other individuals with your same condition or gene mutation, as information regarding rare conditions is often limited.
Finding your people within the rare disease community is also extremely valuable, although it can be more difficult than one would think. Attending a conference designed for the rare community or connecting via social media can help with this. The rare disease community is very strong, and we continue to fight for diagnoses, treatment options, continuity of care, advocacy, and continued research efforts. Joining together as one is the best thing we can do to create a united voice and community for those with rare and ultra-rare conditions. One zebra is strong, but a herd or a “dazzle” is mighty.
You can support someone with a rare disease by asking questions and encouraging communication with those who have been open about their disease. I personally am always open to questions about my diagnosis process, labs, and symptoms as well as the biologic medications I have tried. In fact, I have even given a presentation on the timeline of my diagnosis and which steps were crucial to my diagnosis virtually through Zoom to UPenn Medical School through their NORD Students for Rare Chapter.
Another way to support someone with a rare or ultra-rare disease is to invite or include them in your plans. We know our limits, and it is frustrating and isolating to hear we were left out due to aspects of our condition. If I’m invited to something, I will decline if I’m not well. Think of me for who I am, not for my diagnosis. You can also support someone in the rare community by offering to help with the things you know they may struggle with. However, when losing your independence, it can be humiliating and upsetting at times, so don’t be offended if they turn down your help. In the future, they will realize what their biggest struggles and bad days are, and they will learn to ask for help and appreciate you being there during those times. While it may not be said often, thank you for helping to support someone with a rare disease—we appreciate it.
This Rare Disease Day, I will be traveling from Texas to New York City to join NORD and the Autoinflammatory Alliance outside the TODAY Show. I will be wearing my CAPS Warrior shirt in the rare disease day colors, and zebra print too of course!
Be sure to tune in to the TODAY Show on Rare Disease Day, February 29 at 7am EST to look out for Allison and other NORD advocates showing their stripes!
Feeling inspired? Click here to read more stories and learn how you can get involved this Rare Disease Day, including by making a donation to NORD today.
Cryopyrin-associated periodic syndrome (CAPS) can manifest in multiple ways: familial cold autoinflammatory syndrome, the mildest version; Muckle-Wells syndrome, the moderate version; and neonatal-onset multisystem inflammatory disease, the most severe version.