Rare Disease Day is February 29, 2020. Throughout the month of February, the Siegel Rare Neuroimmune Association would like to generate awareness for ADEM, AFM, MOGAD, NMOSD, ON, and TM through sharing stories, information, and hope. Having a rare disorder can make anyone feel alone; however, over the past twenty-five years, SRNA has built a community of people who are here to ensure that no one has to go through this diagnosis by themselves. This month, we encourage you to share your story and get involved in spreading awareness for rare neuroimmune disorders! If you are interested in joining us for Rare Disease Month by sharing your story, please email us at [email protected].
The President of SRNA, Sandy Siegel, PhD, describes below the power of a rare disease organization to find strength in community.
Our lives become structured in such routine ways. We each have so many different rituals throughout the day. We engage in them almost unconsciously, and we certainly take for granted our ability to live our lives in this way. We take for granted our normal. Living so much of our lives in an unconscious way gives us the freedom to think about so many other things. And we take that for granted as well.
Being diagnosed with a condition changes the normal. It often steals your freedom to think about anything else.
Who is grateful about the ability to pee?
Who is grateful for the ability to walk?
Who is grateful for being able to breathe?
No one… until they can’t.
Being diagnosed with a condition changes everything, regardless of the illness.
And then, having a rare disease is an entirely different phenomenon. It is way more than just the diagnosis. No one wants to get a diagnosis of cancer or heart disease or diabetes. But when they do, they are most likely going to know other people in their lives, including family members, who have had these same diagnoses. We have a good idea about what it means to have one of these diseases and how these diagnoses are going to change one’s life. You are going to be seen by a doctor who knows what you have and has a lot of experience treating it.
None of it is good, but it is known.
Having a rare disease often means that you are going to experience so much more than just the diagnosis. You aren’t going to know people with the same diagnosis. You aren’t going to be able to think about what it means for you, how your life is going to change. There are going to be so many unanswered questions. It becomes very difficult to think about the future. Having a rare disease creates so many psychological and emotional challenges. And if you are a parent of a child with one of these rare disorders, the challenges are going to be magnified.
This experience is intensified by how rapid these disorders happen. Pauline was healthy one moment and was paralyzed within seconds. A mother put her healthy child to sleep and they woke up unable to move any part of their body. And then everyone goes through the process of the complicated diagnosis and apparent lack of information and experience by medical professionals. The most important question – am I going to get better? – isn’t able to be answered. It is hard. Getting one of these rare disorders can be psychologically traumatic.
There’s so much SRNA does to help a person deal with having one of these rare disorders. Our education, our advocacy, our medical professional network, and our physician and researcher training are fundamental to the work we do every day.
One of the least appreciated and most important things SRNA offers is a community that helps you go through your experience without having to do it alone. We understand what it means to have a rare disorder and all of what you are going through… because we’ve gone through this ourselves. SRNA was founded by people with one of these disorders and their family members. We created a community from the empathy we felt through our own experiences.
In so many ways, we’ve created a community that is going to help you through the challenges you experience every day. Through our website, social media, Smart Patients, our support groups, our quality of life camp, and our awareness events, we give you access to other people who know what it means to have one of these rare disorders.
We give you ways to think about what it means to get better. We help you think about what it means to make the most of your life, regardless of what your own recovery will look like. And we help you to understand that recovery is a lifelong journey. And we work to give you the tools to maximize that recovery.
We give you access to people from your community who will help you think about what is possible for you, what your future might look like, and what hope can mean for you.
We’ll help you meet people who have regained the ability to walk such that you can’t tell they were ever paralyzed, or who regained the ability to urinate on their own, or who went from having excruciating pain to not having anything but the most mild sensations.
And then we will introduce you to people like Jim, Maggie and GG. Jim has been a quadriplegic and ventilator dependent since he was twenty-one years old. He’s not experienced anything but the most minor recovery in the many decades since. Jim has lived a full and incredible life. It is most definitely a different life than the one he would have had were it not for transverse myelitis, but in so many ways, it has been a wonderful life. Jim wakes up every day and he does what he loves. He has done more than anyone to make a positive difference for the people in our community. Jim was recognized as the New Mobility Person of the Year in 1999 for his work for the quadriplegic and ventilator dependent community and for his work for the Transverse Myelitis Association (now SRNA).
Maggie is a quadriplegic who lives in a very small town. Since becoming paralyzed from the neck down, she’s raised two sons, fallen in love with a wonderful man, completed a college education, and gotten involved in disability advocacy work. She serves on her state’s disability task force and travels across the country representing her state and governor in this work.
GG was diagnosed with transverse myelitis and became quadriplegic while in her senior year of college. Since being diagnosed, GG has earned a master’s degree in public health and is nearing completion of her doctorate. She lives alone in a large metropolitan area, depends entirely on public transportation, takes care of two cats that she takes more photographs of than I do my grandchildren, and is surrounded by wonderful family and friends.
Jim, Maggie and GG have experienced some or no recovery from the most debilitating symptoms from these disorders. Jim, Maggie and GG have created a new normal for themselves, and they find ways to live their lives to the fullest.
We know that what you deal with every day with a rare disease is more of a challenge than most people could every understand and appreciate. Those of us at SRNA do understand, and we are working every day to make a difference in your life, to help you find the highest quality of life possible, and to do what we can so that you aren’t on this journey alone.