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How to Survive in Rare Disease-ville

mother and daughter walking

By Amy Nadel

Last year I wrote about living the “rare disease” life — going from crisis to complication, dealing with new challenges and health issues as a matter of course. We are now in the midst of a serious health crisis. My daughter, 27, is waiting for a liver transplant, due to complications from her rare disease GSD1A.

We got the call in late June, after one of our routine visits to our “rare disease” home away from home, a hospital 500 miles away. An MRI showed “suspicious lesions” in my daughter’s liver that were growing rapidly.  Our doctor recommended strongly that we be evaluated for a transplant and do something about the lesions in the meantime. I know what “suspicious lesions” is code for, and I felt just like I did when she was an infant and we got the GSD1A diagnosis.  Shock … panic … speechlessness … this is not something I ever thought would happen.

I fell back on my crisis management routine. I called the doctor myself to talk through everything. I worked my Medscape network of colleagues to find out as much as I could about the best place to go. I talked to the transplant teams at four academic centers. I reassured my daughter and our family that “Everything will be OK, We will get through this, we always do.”  But I knew this was something quite different than anything we’d had to deal with in rare disease land.

Picture of Rachel

No 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.

  • A team approach is essential.  Keep all members on the team informed of all issues and treatment plans.  Make sure every team member knows the others, their  roles in managing the patient, and how to contact each other in case of emergency (beyond the “on-call” protocol).
  • Role of the primary care doctor:  If your specialist is also a generalist, you are very lucky – but also get your local primary care doctor trained and part of the treatment team.
  • Plan for unplanned scary events.  Know where the local hospital is when you go on vacation. Keep a days’ worth of meds in the car or in your bag, testing equipment, bottled water and whatever else you need for a day in case you have car trouble.
  • Get an emergency protocol from your rare disease specialist that gives guidance for emergency treatment for the patient with the rare disease. It should be very specific and include on-call numbers, case numbers, and any tests that need to be ordered to inform further treatment.  Put copies of it everywhere, including your car, handbag, on your phone, with your primary care physician, at the school, in your child’s backpack.
  • Have an updated medication list on hand at all times (put it on your phone and update it).
  • Have a medical alert bracelet and keep the file up-to-date.
  • Consider writing the history of your child’s disease as well as all relevant details in case you are not with them all the time (I did this each year when my daughter was in elementary school).  The nurse had a copy, one was in her backpack, and the babysitter had one too. Update as necessary.
  • When you’re in a crisis, plan on being the communicator and coordinator of care. Advocate in a calm, informed way without ruffling feathers. (Remember, you’ll probably know more than the doctor about your child’s disease.) Encourage collaboration with others who know you or your child’s condition well.  Practice with a good friend or family member to step through the process if needed. This is the best way to get things moving in the right direction.

When you’re not in a crisis:

  • Routinely email your team (including all specialists and primary care) about yourself or your child. Keep them in the loop. Update medication list as necessary.
  • Keep the team list current.
  • Work with your child to help them understand what to do in an emergency, and help them participate as they get older so they feel  empowered.

Most of all, know that however rare each of the diseases is, collectively, rare diseases aren’t so very rare. If you speak about this to almost anyone, you’ll find that their lives have been touched by something “rare” too.  Keep advocating personally but also to increase funding for research.  Join or start a parents group for rare-disease persons because finding someone in your town with the same condition is unlikely. I am thinking of all of you out there with rare diseases today, and I know you are thinking of my daughter and us as we wait for the phone to ring.

Image of Amy Nadel

Amy Nadel is the executive director of partnerships at Medscape and editor of Medscape Rare Diseases. Her 27-year-old daughter has glycogen storage disease type 1A (GSD1A) and ankylosing spondylitis (a type of spinal arthritis). Her 22-year-old son is a special-needs young adult.

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