Read the stories of people diagnosed with a rare disease later in life.
Marsha's thoughts on coping with a rare disease.
Disappointment and optimism are two sides of the same coin. When we are faced with a life-changing event like being diagnosed with a chronic disease, the universe can seem to turn end over end as easily as a penny is tossed. It is daunting and discouraging to be confronted with an unpredictable, unexpected health crisis and the growing realization that the life we knew will never be quite the same.
It is hard to feel normal and to maintain a positive attitude when confronted with the challenges and concerns presented by an acute medical condition. The need to discover the most appropriate and effective treatment options, along with scheduling the medical tests necessary to determine how to proceed, becomes an overwhelming task that requires enormous amounts of emotional, mental, physical, and spiritual energy. It becomes difficult to concentrate and focus on anything other than the immediate issue and what to do about it. It is hard to be patient and to believe in hope during the process. With so many questions to answer and so much to learn, it’s easy to feel lost and alone.
But help is available. I know this is true because it has happened to me.
I was diagnosed with a chronic disease called chronic thromboembolic pulmonary hypertension (CTEPH) in the fall of 2015. At the time, I felt a mixture of emotions ranging from fear, shock, and sadness about my condition to relief in finally knowing what was wrong with me. Prior to developing the symptoms of shortness of breath and fatigue on exertion, I had been a rather healthy person, and it seemed unreal that this could happen to me. Being told I have a chronic and potentially life-threatening condition is something for which I was totally unprepared and did not see coming. But I held tight to the hope that something could be done to help me. Along the way, I found I could draw strength from family and friends and from my belief in a faithful and loving God.
I never learned why I developed CTEPH and probably never will, but I decided soon after being diagnosed that it is not helpful to dwell on the “why” when no answers can be found. I believe the better question to ask is, “What do I do now?”
Because it is rare, I had never heard of CTEPH. I realized my condition was very serious and decided to be open with my family and friends about what I was going through and to ask for their prayers and support. There is a vulnerability that comes with sharing so much personal health information. The tradeoff for opening up is the love, support, and comfort that comes from knowing others care. The kindness of others made such a positive impact on my life and meant more than I can say.
I was fortunate enough to have good health insurance and am very thankful for that. I was referred to doctors who were familiar with my rare disease and could help me figure out my options. I learned all that I could about my condition by asking lots of questions and by using reliable internet sites from reputable sources like teaching hospitals and the Cleveland Clinic to research CTEPH treatments.
In 2016 I decided to have a complicated surgery called a pulmonary endarterectomy, a procedure with a high statistical cure rate for CTEPH. It was not an easy decision to make, and the procedure could not be performed in my hometown, but it seemed to be my only real option for survival. The surgery was major and the recovery was long and slow. Unfortunately for me, I was not cured. To say that I was disappointed is an understatement. Based on what I had read about the success rate and my suitability as a surgical candidate, I had hoped for a better outcome. It seemed like a lot to undergo without a cure, and the future seemed very uncertain.
But I was alive.
I decided that I would do everything in my power that I could to recover, regain strength, and remain hopeful. I faithfully followed the instructions of my doctors, who encouraged me to exercise and to gradually increase my activity. I was lucky to have many people who loved me and were praying for me. I prayed too for God to give me grace and strength to face and accept whatever would happen to me and to remove any bitterness from my heart.
Although I was not cured, the surgery greatly reduced my symptoms. It took months to heal, to be able to sleep through the night, and to regain a measure of strength and wellness. Little by little, my quality of my life has improved and my doctors and I are pleased and optimistic. I have been told I will have a future similar to that of many people who must cope with a chronic disease. Regular medical exams and ongoing follow-ups are a must. I manage my condition by taking a blood thinner and a medication to treat CTEPH and probably will do so for life. The CTEPH medication is very costly, but fortunately the cost has been covered via a patient reimbursement program provided by the manufacturer. Without this program, I would not be able to afford the medication.
Throughout the process, I learned how it feels to be told you are sicker than you ever dreamed you would be. I’m sharing these details because although this is not the life I would have chosen, it is the life that I am able to live. Life is a gift. I know how important it is to have hope and to keep on hoping and praying that all will be well, even when you can’t see how that will happen. I am learning that faith in God can be strengthened by challenges and that it’s OK to lean on the strength of those who love me. I have said many times that I still don’t understand the mystery of prayer and how it works, but I am convinced that it does work and that it makes all the difference in the world. The love of family and friends is the expression of God’s love made real in this side of heaven.
If you find yourself going through tough times, hang in there! Don’t give up when you must straddle the line between despair and hope. Learn everything you can about your situation and seek out the best treatment options for your care. For those of you who love someone who is coping with disease, remember that the smallest act of kindness offered in love is never wasted. We cannot know what we will have to face at some point in our own lives or in the life of someone we love. We cannot know how our stories will end, and that’s probably a good thing. But be assured there is help for hard times, and never underestimate the power of friendship, love, faith, and prayer.