Finding out a diagnosis often takes time for a person with a rare disease. Typically there are several medical tests involved and being examined by more than one doctor. You may have to travel for a specialized procedure (such as a CT scan) that’s not done at the hospital near your home, or have blood samples sent to one of the few laboratories that does the test your doctor has ordered for you.
You may end up waiting a long time to see a specialist, or for those blood test results to come back from that lab, or to schedule a procedure. You may find yourself feeling impatient, frustrated, or even depressed.
Finally the day comes — you are going to meet with the doctor, review test results, and he or she will tell you the diagnosis. Your friends and family might think you would be happy to finally know. However, you might be feeling differently. These are some common reactions to finally finding out your diagnosis.
Here's an example: A friend of mine had an unusual spot on her face, and went to the dermatologist thinking it was a type of pimple or mole. Just looking at it, the doctor said, “It looks like cancer.” My friend started crying and said, “It looks like what
?” She had never expected that diagnosis. Sometimes you might get a diagnosis that is very difficult to hear, like a rare disease that has no cure, or one that is going to shorten your or your loved one’s life expectancy. You might be in such shock after hearing the diagnosis that you don’t hear much else of what the doctor says after it.
For people who are diagnosed with rare diseases, a common reaction after hearing the diagnosis is confusion. “I have . . . what is it again?” and “What is that
exactly?” are typical responses. You might not understand about your disease right away. It might take time to learn what a metabolic disease is, for example, and how it affects the body. Your friends and family will be confused as well, since they’ve never heard of what you have either.
I have heard from people many times who, even though they’ve been given a difficult diagnosis, are so relieved to finally know what it is. Now they know what to expect in terms of treatment, and have a better sense of what the outcomes might be for them. “I had all my plans on hold while going through this diagnosis,” said another friend. He added, “I’m still not making any long-term plans, but at least I know what I can do in the next few weeks.”
Grief and Sadness
For a serious diagnosis, especially a life-threatening one, grief and sadness may be very strong feelings. Grief means deep feelings of loss. You might feel this over losing your health, or your ability to be free of pain, or that you might not be around for future events, like your child graduating from college, or walking your daughter down the aisle at her wedding. You might also have feelings of, “Why me?” or “Why now?” You may question your faith beliefs and your own ability to cope with this illness. You may find yourself crying easily.
All of these feelings are normal reactions after finding out your diagnosis. You may experience one or all of them, and you may pass through different feelings at different times. For most people, talking with friends, family, a clergy person, or a counselor helps them cope with these feelings, and gives them a chance to discuss the diagnosis and how it may affect their life.