Rare Disease Report

Do ER Doctors Know the Subtleties of Your Chronic Rare Disease?

MAY 12, 2017
James Radke
In early April, Noah Sweeney got pneumonia. 
 
Noah, a young adult with Gaucher disease type 3, and his mother Theresa, are no strangers to the hospital emergency room, nor are they strangers to the countless ways in which small disruptions in medical care can have catastrophic effects.
 
Pneumonia is not a small disruption, but for patients with Gaucher disease type 3 who are prone to seizures and respiratory problems, pneumonia requires hospitalizations. For anyone who has been to the hospital, trying to juggle the plethora of medications required for a rare disease patient, with the various differing opinions from different doctors on how to manage both the acute problem and the chronic rare disease, can be exhausting.
 
In some cases, it might be impossible.
 
During Noah’s recovery from pneumonia, he was given a dose of Depakote (divalproex) that was almost double what he normally takes. When Theresa learned of this, she quickly informed the doctor to the problem. The doctor on call responded by saying the Depakote levels were fine.
 
The next day, Noah was sent home as his pneumonia was seemingly under control. Two days later, Noah began having grand mal seizures and was back in the hospital.


As Theresa noted on her Facebook page, “I think we are officially in hell. Almost 24 hours in the ER and no beds available… It's exceptionally loud. He's in pain, and because he's so sleepy, ibuprofen is all they'll treat it with.”
 
Two days after that, Theresa wrote again.
 
“I left hospital at 4 am, was up til 5 and back at hospital at 9 to ensure his meds were correct. I haven't slept in over a week, and the last four days or so less than 4 hours each night, completely interrupted and two nights in an effing chair. I am exhausted, and feel it's not in Noah's or my best interest to bring him home today. Basically I was told tough… I don't have a nurse until Sat and it's Wed. Glad our health care system doesn't value our actual health.”
 
So, did the higher dose of Depakote cause every problem? Nobody will ever know.
 
The problem with managing a rare disease is that predictions are hard to make. That said, it can be argued that Theresa, a 20-year veteran of caring for a Gaucher disease type 3 patient knows more about the disease than an emergency room doctor.
 
Theresa has stated that almost every hospitalization for Noah has involved a medication error, and she has helpful advice for other rare disease caregivers – keep the lines of communication open and be diligent. 
 
"You need someone who can crosscheck with health care staff to make sure you're getting what you need,” she said. 


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