Kate’s Story – Managing Kate’s Care

By December 2008, we had been heavily engaged with the medical community concerning Kate for about 6 months. When you think of the larger picture – and when I reflect on the last 5 years, really this was no time at all. Many parents who have medically complex and fragile children have been in this role for years. We were in the early days and had so much to learn. Both Brian and I were starting to feel the stress and pressure of trying to advocate for, manage and coordinate Kate’s medical care. There was increasing frustration at feeling like no one had ‘oversight’ of Kate, and that there was a lack of consistency between and among the doctors who saw her and who assessed her.  We knew we needed help and were trying desperately to advocate for some leadership over Kate’s case. In this regard we had many disappointments, but from those disappointments eventually came positive changes to Kate’s care, though these would take years to happen. We kept looking to her medical team for guidance on the simple coordination we were asking for. That December what did happen was a shift in leadership for Kate’s overall care to the community pediatrician she had begun seeing in August with support from our family doctor. We were not entirely satisfied with the plan, but at that time we had no other choice.

Kate still had a lot of irritability during and between her episodes and and the cause was still unknown. I know now – and I think I suspected back then – that this irritability was ranging between discomfort and pain. What I have learned is that there was a moderate understanding of pain in young children and an even lower propensity to intervene and treat for this pain. Babies and young children cry seemed to be the basic understanding between most doctors.

Kate’s irritability was pretty much constant, and would escalate at different times during the day. Both daytime and nighttime were bad – nighttime was worse because at 14 months she simply did not sleep. Kate woke about every 1-2 hours in distress and was very difficult to settle. Exhaustion does strange things to people, and new parents know this well. Usually you can count on light at the end of the tunnel after several months or a year. Kate carried on like this until she was 3.

We reported on the irritability and constant crying to her medical specialists. There were different theories ranging from GERD pain to simple sleep issues and a need to ‘sleep train’ Kate (that one didn’t go over well with me). Her neurologist did think that we could address this lack of sleep during episodes, as Kate was in particular distress during this time – i.e. there was no sleep happening at all. A sedation type drug was discussed and considered. We did end up with a Rx for it, but in the end we never did use it as we were worried about sedating Kate when she was so unwell and vomiting. Our instinct, our intuition kicked in – and this served us well for a future acute episode where the recommended sedation could have very well killed her.

The neurologist also had another drug treatment to offer based on the theory that Kate’s episodes with the vomiting were a type of migraine variant syndrome, which are apparently common for people who have mitochondrial disease. He  wanted to start her on medication for those symptoms – a neurological blocker type drug called cyproheptadine that has been used in children to treat migraine and cyclical vomiting.  The risks for this drug were considered low and we eventually did decide to try it.

Our meetings with Kate’s specialists in December were as outpatients and mostly around the possibility of mitochondrial disease. Things move slowly in the genetics and metabolics world. At that time (and still), we did not have much patience for waiting for test results to come back. Because mitochondrial disease was still speculation and based on the cluster of symptoms Kate was presenting with, there was really no discussion of treatment options. We were also given very little hope about confirming the diagnosis, and this marked the beginning of the rhetoric from some of Kate’s doctors that ‘many kids have no diagnosis ever’. To me this was unacceptable and I was firm in my position and our belief that a diagnosis for Kate was the most important thing to pursue next to keeping her safe from harm due to her episodes. We wanted to know what we could do to help Kate, we wanted to know if she could be treated, we wanted to know what we might expect to happen next, and we wanted to know what her future would hold.

Quote from UMDF

Mitochondrial diseases are difficult to diagnose.   Referral to an appropriate research center is critical. If experienced physicians are involved, however, diagnoses can be made through a combination of clinical observations, laboratory evaluation, cerebral imaging, and muscle biopsies. Despite these advances, many cases do not receive a specific diagnosis.

At that time (2008) there was no Canadian organization for mitochondrial disease, so we were referred by Kate’s neurologist to use the UMDF (United Mitochondrial Disease Foundation) as a reference/resource. I had been getting pretty good at ‘researching’ on Google and Wikipedia. There had already been several conditions that had been considered for Kate and I had looked into all of them to some extent so I could better understand the information the doctors were telling us. I had also started to research ‘second opinions’ and where we might seek them. We were early into the ‘diagnosis game’ with Kate, but being told by a couple of her doctors not to expect a diagnosis for Kate set off alarm bells for me. I started to gather information wherever I could about how to best help her. We spoke with our insurance company about pursuing something called Best Doctors and found we were not insured to seek out this service. We changed our insurance policy so we could access this service. I looked into medical communities, doctors and facilities that dealth with ‘rare diseases’. I researched ‘undiagnosed’ diseases and entered in everything I knew about Kate. I started with her conditions and looked at related links. I called the UMDF and shared our story, hoping they could provide more guidance on finding a diagnosis for Kate. I googled clusters of conditions, hoping the ever wise internet would string them together for me and find that related and elusive medical journal article that I was sure existed describing what Kate had. (To this end, I have over the years made a few suggestions to her doctors about what she might be suffering from, and they actually have investigated those.)

Kate had her 6th episode starting December 22nd. The symptoms were the same as they had always been: vomiting, crying, pain, uncontrolled shaking, intermittent fevers. She could not sleep and by the second day of the episode we were at CHEO for already scheduled bloodwork with metabolics. The suggestion from the metabolics team was a visit to the emergency department if her symptoms persisted into the next day – she wasn’t examined. The same day, Kate was seen by our family doctor who suspected a mild ear infection (if at all) and prescribed antibiotics. When antibiotics don’t provide relief in a couple of days, you can usually expect something else is going on. Kate’s episode continued until the end of December – and her recovery toward feeling more like herself (baseline as we call it), took another few days.

Julie

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