Living With a Rare Disease Letter

Dear Family, Friends, Colleagues and Physicians,

I have been diagnosed and live with a rare disease.

“Living with a Rare Disease” was a recent  theme for  International Rare Disease Day, co-sponsored by the National Organization for Rare Disorders (NORD) and the European Organization for Rare Disorders (EURORDIS). This designated last day of February each year provides an opportunity to focus on improved awareness of those who live with a rare diagnosis; but, for the patient there is awareness every single day. The key word is “living”….. beginning with the journey to obtain the diagnosis, the symptoms experienced for years and while seeing numerous physicians who have either very little or no knowledge of this rare disease. The symptoms and the diagnosis are often missed and dismissed! This causes confusion, frustration, and a feeling of hopelessness.

Please understand that living with my rare diagnosis doesn’t mean that I am not still trying to live my life with as much normalcy as possible. However, I spend a lot of my days frustrated with my physical limitations and in trying to find help from a medical community that is largely unfamiliar with my diagnosis. Sometimes I feel like they just want me to go away, and this is often expressed in referring me to numerous other physicians, who then refer me to many others!

At times, I may not seem like much fun to be around, but I am still “me”, often feeling a bit trapped inside this changed body with symptoms that are a mystery to my doctors and also to me! There are things that I can no longer do, and I’ve had to learn to cope with that and develop some acceptance, in order to focus on what I CAN do! I do worry about how the changes in me are affecting you. I do like to hear from you, talk with you and speak about things other than my medical issues; I like hearing about your life, work, family, activities and when I am around you, I enjoy being with you. Please understand that although I may look the same to you, and as if there is nothing wrong with me that you can physically see that it isn’t “in my head”. Please understand the difference between healthy and happy. When you have the flu, you probably feel miserable with it, but in a week or two you are back to normal. I’ve been living with my rare disease diagnosis and its symptoms for years; I can’t be miserable all the time. In fact, I work very hard at NOT being miserable. I am learning to cope with the “abnormal” that is my new “normal”.

With this new medical condition, it can become more confusing day to day; it is often like a roller coaster of changes. I never know from day to day how I will feel in the morning and how difficult the symptoms might become during the day. That is one of the most frustrating issues of living with my rare diagnosis and it makes planning ahead difficult. I have had to adapt to an altered life style. It’s possible that I may need to cancel a previous commitment to do something with you at the last minute; if this happens, please don’t take it personally. Sometimes I force myself to do things and then realize “I’ve overdone it”. I do have to re-prioritize my plans and activities constantly, because of my symptoms that persist and often exacerbate/worsen without warning. Please understand that if I seem irritable or more distant occasionally, it is because I am experiencing an increase in my symptoms. I have been experiencing a lot of change. Almost all the time, I am doing my best to cope and live my life to the best of my ability each day; I ask you to bear with me and accept the reality of the new me, perhaps less dependable and changed from the person you knew before this rare diagnosis.  I know that you cannot literally understand my situation, but as much as possible, I am asking for your understanding in general.

In many ways I depend on you. Sometimes I might need you to help me with tasks I can no longer accomplish on my own; you know me well enough to know I have always been very independent and that it is very difficult for me to ask for help. You can help me to keep in touch with the parts of life that I miss so much; you are my link to the normalcy of life.

I’ve asked for a lot of “understanding” from you, and I thank you for listening to my innermost thoughts on paper. It really does mean a lot to me that you care about the changed me. My head and heart are still the same, but it is my body that has changed, as well as my life as I knew it before. Sometimes it is the little things that make me aware of the changes this rare disease have caused. Thank you for trying to understand what I myself do not completely understand. I appreciate your love, concern and prayers. This new journey of learning to live with my rare disease has taught me a lot and blessed me in many ways.

Thank you for caring!
Author: Reta Honey Hiers, R.N.C.,Founder/President/Executive Director
Tarlov Cyst Disease Foundation
Contributor: Rare Disease Report
Note: If you are living with a rare disease, feel free to print this letter and share it as is, or edit it to make it your own and share with those you wish to have improved understanding of your diagnosis. I hope your path will be made easier with others’ increased understanding of you and your life with a rare diagnosis and that your efforts will bring earlier diagnosis, improved education, symptoms management options, treatment and perhaps a cure in the future.

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