When you journey with a medically complex and medically fragile child, you meet an unbelievable amount of doctors, nurses and therapists along the way. At my count Kate has been seen and assessed by more than 100. That is just a ridiculous number for a 5 year old, or for anyone one person, and I have to take a pause as I write this. It chills me, and adds to the weight of realizaton at how ‘special’ my little girl is.
Some of these doctors are ‘transient’ and in Kate’s life for only a brief time – taking no real interest in her other than to get her through the current crisis. Others are more engaged, having really connected with our family and taken the time and interest to get to know us as parents and Kate as a child – not just a case. These are the familiar faces of the CHEO hallways and in our community who stop and say hello – and ask how Kate is doing. Others are specialists at other health care facilities that are still champions of Kate. And there are the doctors who are currently engaged directly with Kate’s regular care. At last count we were at 15 different specialists whom Kate sees on a regular basis between clinic appointments, admissions, regular community care and check ups, hospitalizations, and admissions. They are an incredible expert team who have come to work together in a collaborative way to care for Kate, manage her disease and her conditions, and to help us keep her safe.
One of these incredible specialists in Dr.C. I have to rave about him because over the last 4 years he has been an incredible doctor to Kate, and tireless and undaunted in investigating her disease. This post is about our first meeting with him.
Meeting Dr. C
During Kate’s first hospitalization due to one of her episodes, she was heavily investigated by the genetics and metabolics team who were working collaboratively to find an underlying cause for the medical conditions that were starting to pile up. We initially met the team of residents for the group, who were obviously ferrying information back and forth from the lead physician whom we had yet to meet. We were still in a state of shock and really not understanding the various roles and hierarchy within the hospital. We weren’t demanding to see anyone, we felt relieved that someone – anyone – was looking into and investigating what was happening to Kate.
On the day we were discharged from CHEO – after a 10 day stay – we met Dr.C, one of the principle physicians in the metabolics program at CHEO. He was accompanied by his senior resident who we had met with several times during Kate’s admission and had provided detailed information about Kate’s health, her history, our concerns, and had taken several blood tests and tissue samples. Dr. C was now here to visit us and discuss their findings and what they thought might be happening to Kate. This would mark the first time we sat with a doctor and discussed mitochondrial disease. It would be 4 more years until Kate had a confirmed diagnosis. At that time ‘mito’ was just another condition that might describe the cluster of symptoms that Kate had. We wrote down the unusual name, and I am sure I must have googled it at some point, but it was not something that was used to describe Kate.
My mom had arrived to Ottawa to provide us support both at home and at the hospital. We were starting to flounder – I would say with reservation. We were exhausted and scared. We had a 1 year old who was very sick and in hospital, and a 4 year old at home who was being juggled between parents. We hadn’t slep in a year due to Kate’s constant crying, GERD, and issues with hypotonia and feeding, and we were just now getting the medical attention and support we had been desperate for. My self employed husband was struggling to keep his new company up and running, and I had just come off of maternity leave and having not returned to work because of Kate’s health – I found myself no longer with a pay cheque. Friends were concerned for us, but not many people knew the extent to which our family had sunk it a major medical crisis. I don’t think I even recognized at the time the state we were in. I was simply trying to get through it – day to day. My mom was also an expert note taker – and a former nurse – so being free to talk with the doctors without constantly scribbling notes and questions was very helpful.
Dr. C started off by talking about the role of mitochondria in the body. That if these little parts of a cell were not working well, the body would have trouble making energy. He told us the metabolics team were in ‘middle clinical suspicion’ (on the fence) about whether or not Kate had mito.
Dr.C told us the tools to diagnose mitochondrial disease were very poor. There are 150-200 genes involved in mitohondrion functioning, and the most sophisticated test they had at their disposal currently was a muscle biopsy. Dr.C was reserved about muscle biopsy and said that it is really only helpful diagnostically if the ‘potential’ for mito is very high. He told us some mito biopsies come back normal even when the disease is present. His team had also sent Kate’s bloodwork away for microarray testing, and he estimated it would be 2-3 months before the results came back. Kate’s hearing loss was also another clue to the suspicion of mitochondrial disease and was being investigated genetically for a link – this testing would take 3 months. We began to understand that a diagnosis would take time. For us, the muscle biopsy seemed like an important piece of the puzzle and we felt strongly about doing this surgical procedure sooner rather than later.
When I look back on this conversation and our subsequent decision – more like insistence – that Kate have a muscle biopsy as soon as possible, I realize what Dr.C was trying to do. He was trying to warn us and prepare us. He knew that a muscle biopsy may not give us the information we needed about Kate. I think he knew, even at that time, that Kate would prove to be a much more difficult patient to diagnose than the current tests that were available. As her parents, our first reaction was ‘Yes’ to a relatively minor surgery that may give us the information we needed to diagnose Kate. To us diagnosise meant treatment and treatment meant a cure – and we were highly charged in that direction as any parent would be. We wanted to get Kate better. We wanted her to be ‘well’. We didn’t want ‘this’ to happen to her anymore, and now we knew there was something that might give us answers we wanted to do it.
Dr.C talked to us about Kate’s ‘cycles‘ or ‘incidents‘ – what we as parents were calling ‘episodes‘. Interestingly ‘episodes’ is the moniker that is being used to this day. I will also refer to her ‘episodes’ as her mitochondrial disease ‘cycling’ as we have days – weeks- sometimes months in between where Kate is episode free and doing well at her baseline. He talked about how these types of ‘episodes’ are common in children with mitochondrial disease.
We talked about a strategy to manage Kate’s episodes. We told Dr.C that to date we felt very alone an ill-equipped to help Kate. The strategy that we came up with was to have Dr.S, Kate’s community pediatrician to take the lead when Kate was unwell – or appearing with an episode. Dr.C would also communicate all tests and information this way. If things got worse or new symptoms presented, then Dr.S would call Dr.C to advise him and we would bring Kate to the emergency department where we would have Dr.C paged so that he could closely examine and monitor Kate during an episode. We had no response either way to this plan. At that time we didn’t know any better about the ‘inner’ workings of a hospital, how triage worked, how Kate may be managed at emergency, or how acute her episodes could become. Any plan, or sense of organized care for Kate, sounded good to us and so we left feeling like we were moving in the right direction.
In the next week, Kate had more bloodwork done and an EKG to assess her heart functioning. An echocardiogram was also done to provide a clear funciton of her heart – something that can be affected in many genetic diseases. To this day, Kate continues to have EKGs and echos annually as he rare from of mitochondrial disease causes cardiac myopathy. Something Kate is at high risk to develop. During that week Kate also had visual evoked potentials – basically an eye test to examine the functioning of her eyes. This test has been performed a couple of times and there has never been an issue.
We heard from the metabolics clinic and senior resident about Kate’s bloodwork and the progress on her various pending tests. A disturbing trend that they had noticed in Kate was an elevated metabolyte in her blood called alanine. This issue of persistently elevated alanine continued to be a problem for the first 3 years of Kate’s life. Combined with indications of reduced liver function and her episodes, the first mito condition of MELAS was mentioned to us. Instant googling from me, entered us into a world that I could never have imagined for our family. A world totally parallel to the life I thought we would have. The life I thought Kate would have. As we started to drill down into the possible conditions that might be affecting Kate and started to read more, we realized that our lives would never be the same.
Julie
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