Journey to diagnosis: “They didn’t think to look for a rare disorder in such a small community.''
Looking back, Pierre’s short stature, his bruising easily and his unexplained stomach pain all pointed towards the diagnosis he would eventually receive. But it wasn’t until Pierre was rushed to the ER with severe and progressive abdominal pain that the pieces of the puzzle started to come together. He was 15 years old. It was 1995 when the doctor in the ER room raised concerns that Pierre had an enlarged liver and spleen. An ultrasound was ordered and showed gallstones. Pre-op blood tests were scheduled and Pierre was given an operation date to remove his gallbladder a month later.
Post-surgery, Pierre’s surgeon expressed concerns over not only the size of Pierre’s gallbladder, which was more than twice the normal size, but also the amount he bled during surgery. On inspection of Pierre’s medical chart, it was discovered that the surgeon had not been given the results from Pierre’s pre-op blood test. Pierre was sent home to recover from his surgery while they tracked down the results. Two weeks later, Pierre’s family received an urgent call.
Pierre was told his platelet count was very low and, fearing it was leukaemia, he was referred to a hematologist for a bone marrow test. Following the test results, Pierre was presented with the term that would soon become a significant part of his life: Gaucher disease. It was now March 1996, seven months after his admittance into the ER.
Pierre believes the length of his diagnostic journey was partly due to the population size of where he was living. Pierre explains,
In big cities with higher populations, doctors are exposed to more cases of rare disorders. Doctors don’t really think of looking for these rare disorders in such a small community.
Gaucher and bone pain: understanding pain levels
Pierre explains there are two types of bone pain: day-to-day bone pain, which Pierre learned to live with over the years and managed with medication, and bone crisis. Pierre explains, to those fortunate enough to have never experienced it, how a bone crisis can feel:
If breaking a bone is a 10/10 pain, then bone crisis is an 11.
For Pierre, a bone crisis could last anywhere from a few days to a week and sometimes even longer with pain levels so high it was impossible to sleep.
The difficulty in raising awareness for invisible symptoms like bone pain and fatigue: “I don’t look sick.”
Invisible symptoms such as chronic and severe pain and associated fatigue is often misunderstood and the burden underestimated. Pierre suffers from fatigue frequently as a symptom of Gaucher disease. Often, very active days can leave Pierre feeling exhausted, and his evenings are spent recovering.
Fatigue is something that’s really hard to explain to people. My immune system is constantly trying to fight my disease, but because it can’t get rid of it, the result is chronic fatigue. This is my normal.
To demonstrate just how misunderstood invisible illnesses are, Pierre shared with us the experience of a National Gaucher Foundation of Canada advocate, who was trying to have a newly approved treatment for Gaucher approved in Canada. The advocacy leader had met several times, unsuccessfully, with health ministers to fight for the approval of the new treatment. However, prior to one such meeting, the advocate had a bone crisis and rearranged the meeting to take place at the hospital where he had been admitted. The Deputy Minister of Health now saw him at his worst. “That’s what it took for treatment to be to be approved in Ontario. At every meeting before that, he had been viewed by others as healthy and his condition not treated seriously because he didn’t look sick.”
Early disease intervention: issues with meeting health requirements
With Gaucher, and in the case of many other rare diseases, access to treatments depends on the individual being eligible. This can mean that some people may be deemed “not sick enough” to benefit from new therapeutics, and this difficult balancing act must weigh up the benefits of early disease intervention and need for treatment.
In Canada, where Pierre lives, there are certain requirements and criteria that must be met in order for patients to start treatments. In Pierre’s case, he did not meet the criteria for some time; however, his bone crisis in 1998, meant his doctor was then able to champion his cause and successfully apply for treatment approval.
My Gaucher Expedition
To continue learning about Gaucher disease and patient support you can read the following articles in this Digital Spotlight here:
Rare Revolution Editor