Rare disease Specialists

mother and daughter walkingNo matter how much you’ve prepared, no matter how many crises you’ve been through, you may still not be prepared for the “what’s next.” Unexpected reactions and rare occurrences seem to happen to us. Yet you have to function, you have to support your child to ensure they feel safe. You have to be an advocate and stay calm and rational, or at least appear that way. (Believe me, I’m ready for my Oscar by now!)

This summer, we entered an alternate universe. Let me take you on a tour.

1. Was the tumor cancer, or not? It was a bit like a Rodney Dangerfield routine. “It could be cancer … it’s NOT cancer … it probably IS cancer … it’s definitely NOT cancer … we won’t KNOW if it’s cancer until we take it out.” Wow. What to do with this information?

2. The surgery to deactivate the tumor goes fine, but my daughter’s recovery is much slower than expected. Eventually she is released from the hospital despite not feeling well. One day later we were called and advised to take her to our local hospital immediately. Routine blood tests showed that she was in kidney failure. We rush to our local suburban hospital ER. Despite my advocacy, no one seems to know how to deal with the issue or why it is happening. Eventually, we learn that she had a “rare” reaction to the contrast agent used for the testing and surgery.

3. My daughter receives dialysis and is in intensive care. Ten days later, she recovered enough to go home. They pulled the dialysis catheter out, and suddenly my daughter started talking strangely (very nasally) and had difficulty swallowing. When she drank, the liquid came out her nose. After several days of panicked calls with different specialists, she was diagnosed with a blood clot resting on a nerve, another rare condition.

Two more weeks, three emergency rooms plus another admission later, we had been in four hospitals in two months. And after all of that, we are on the waiting list for a liver transplant, hoping to get a call soon.

The point is: we recovered, and we’re prepared for what’s next. I’d like to share what I have learned along the way. Being able to plan and rehearse for an emergency (even if you don’t know what it will be yet) will make you feel less “at sea” if (or when) something happens.

Dragsbaek: 5 public health threats scarier than Ebola  — Longview News-Journal
Children died not from a rare infectious disease but from a vaccine-preventable disease that we didn't protect them from. 2. Pertussis: In 2013, Texas reported 3,985 cases of pertussis, or whooping cough — more than any other state in the U.S.

Popular Q&A

What is a rare disease specialist called?

There are a variety of names for doctors that specialize in rare diseases. An oncologist would specialize in the many types of cancer. !

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