Falling Into a Medical Abyss
Living with a rare disease is a little like being an orphan. But one doctor has helped me find a home.
Some days I wish I had cancer. I'm even tempted to tell casual acquaintances that I have cancer, because when I say "severe aplastic anemia" they look at me blankly, or they reply that their aunt Sheila has anemia or, worse, they say, "Thank God you don't have cancer." That's what the hematologist said after reviewing my bone-marrow biopsy: "The good news is, you don't have leukemia."
I run my uncle's internal-medicine practice, so I see cancer patients and survivors all the time. There isn't much that shocks or frightens anymore in this exhibitionist age, but there's one bridge that everyone still trembles before: cancer.
Yet during my first trip to the oncology ward—oncology because there are no wards for aplastic anemia—four successive roommates, all leukemia patients, returned to their lives after receiving treatment while I stayed and reflected on mine.
Aplastic anemia is a noncontagious disease in which, for unknown reasons, the body's immune system destroys newly formed blood cells in the bone marrow, causing life-threatening anemia and high risk of infection and hemorrhage. When you have a rare disease like mine, you don't fall through the cracks in the system—you fall through a gaping abyss. There is no money for what you have, no telethons, no support groups, no ribbons of camaraderie. Because there is no profit in developing and testing drugs for rare diseases, they've been lumped together as "orphan" maladies, much as real orphans are crowded together in one place to be more efficiently cared for. And the metaphor of being an orphan feels all too real, as if you're abandoned to dark corridors while mansions are constructed to treat diabetes and AIDS and Alzheimer's. When you're an orphan you envy people with families, even such horrific families as cancer.
But there's one glowing advantage to having a rare disease that perhaps redeems all the rest. You never have to wait for an appointment. There may be only a handful of specialists in the entire country familiar with your disease, and you may have to endure hardships to reach them, but they'll see you right away, and they won't have to look at your chart to remember your name.
After I was diagnosed last April, Dr. Jaroslaw Maciejewski, a Polish-born researcher at the Cleveland Clinic, offered me an appointment in three days, and even then apologized for not being available sooner. My parents drove me two and a half hours to the steel-and-glass structure on the Cleveland Clinic campus called the Taussig Cancer Center, because there are no buildings for aplastic anemia. As a child I had reveled in my nonconformity, but now, at 46, I wanted to meet people just like me. Instead I saw two floors of pale women in headscarves, and wheezing men with canes or walkers. Yet many of these beleaguered patients were in remission, and all of them, I realized, despite their obvious suffering and my deceptively normal appearance, might outlive me.
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Member Comments
Posted By: Mars2you2 @ 09/29/2008 3:35:13 AM
Comment: Mark. What a wonderful article. Thank you so much. I have dreams of someday be able to raise so much awareness for AA that it too will become as commenly spoken of as cancer. I have had moderate (not severe) AA for 11 yrs. now, and just in the past 3 years or so, our fine Doc's at NIH have found that my "rare" form of the disease is more than likely genetic!! Which poses the problem that I am unable to be treated with immunosuppressive therapies, because my DNA will keep reproducing this mutated genetic gene that is causing the Bone Marrow to fail. I do have a BM match with my brother, but there again, not "positive" because it is genetic that if i recieve his bone marrow that it might all just come back.... to add a little icing on the cake, my (soon to be ex) husband, does NOT believe that I am sick, because I don't "LOOK' sick, and he feels that it is just a case of a LAZY wife. Amazing... i know, I guess that is why I am divorcing him!! haha. He is military, so he was rarely at any of my doctor appt.'s & never made it to a single one of my transfussions... Thank God I have a wonderful support from friends and family. Although, I am still a bit of a medical mystery as to why my disease has not become more agressive, despite an almost non-existant ANC, and a BM cellulartity of less than 5%, plus the bi-monthly blood transfussions (my WBC lingers a high 2, and HBG high 7's low 8's) I function pretty well, and am grateful everyday that I am able to wake up and function as a semi-normal person.
I have been on disability for over 3 yrs., so I keep myself busy with Dr. appts. (of course) traveling back and forth to NIH (fm TX) and caring for my amazing daughter (that also has the mutated gene, but is not affected as of yet). Someday I will be healthy enough to raise that awareness like I'd like to, and make a difference like you have. Thank you again, and Godspeed.
Posted By: bjwcatlover @ 02/24/2008 8:22:10 PM
Comment: I, too, have SAA. I have said many times it would have been 'easier' to have breast cancer and cut it off! I had two rounds of ATG, first horse, then rabbit and got to enjoy over a year without transfusions. My counts were WBC 2.5 HGB 11.7 and PLT 94,000. Last month, my counts began to fall again. White was 2, hgb was 10.7 and platelets dropped to 73,000. I go again on March 4th, (IBMT in Indianapolis) and am afraid they've dropped even lower. Lots of faigue. I get very tired of people saying " you dont look sick'. Not that i want to look bad, but no one really believes that i have a life threatening illness because no one has heard of it. Keep the faith!
Barb, in Terre Haute, IN
Posted By: ahgreer @ 02/21/2008 8:45:24 AM
Comment: I wanted to let you know that you "hit the head on the nail" when you said it would have been easier to have been told you have cancer. I don't have what you have, but I do have a very rare disease called necrobiotic xanthogranuloma. I have only found 1 person that I talk with and she lives in Australia. I am a human ginny pig, but yet I have to pay for this. Seeing insurance companies don't pay for treatments that have not been FDA approved for something.
Anyways, I just want to commend you for your article, that was so well writen.
Living with nxg in Mississippi,
Angela