Kate’s Story – Mother’s Day

May 7th, 2009 Kate is discharged from CHEO after an acute episode of Cyclical Vomiting Plus Syndrome. Kate was still not well, but she was stable and had been slowly recovering, though there seemed to be no reason to keep her hospitalized Brian and I both wondered if someone should follow her closely post-discharge. If so, when should she been seen and by whom?

May, 9th

Kate has still not recovered fully since her hospitalization. Kate began vomiting that morning and was lethargic and irritable. We weren’t sure of how to handle the situation. Kate had been discharged from hospital – and we assumed this meant she was recovering and did not need to be there. At the time we weren’t really considering a ‘relapse’ as this had never happened before with Kate. Typically her episodes had a recovery period (which was slow), and the next episode would be 6-8 weeks later.

As Kate was now being followed by palliative care, and they were facilitating her care within CHEO in the absence of any case coordination, we called the palliative care doctor on call. Dr.V. thought we should come to Rogers House for observation and have bloodwork done to ensure Kate was still stable and did not require hospitalization. Kate was placed on morphine to ease her discomfort, and I sat with her in the reception area of the House while we were ‘admitted’ to a room.

Rogers House is an amazing facility. It is supported by the Ottawa Senators Foundation and bears the namesake of a former Sens assistant coach Roger Neilson. It boasts 24 hour nursing care, ‘homey’ rooms for the patients, a playroom, kitchen – where meals are prepared for patients and families, sensory rooms, and a small garden area. It was decided that we should stay as a family in one of the suites, so that we could all be together while Kate recovered. To this day Jack still talks about Rogers House and the awesome bed he got to sleep in (a hospital bed with lots of bells and whistles). It was Mother’s Day weekend 2009.

Dr.S, Kate’s palliative care doctor came to see us the next morning and we had a discussion about Kate’s status and why she seemed to not be recovering. We talked about her ‘irritability’, and what I, as her mom, considered to be more than discomfort.  I was sure Kate was in pain, and I was determined to make the team understand that Kate needed help and more intervention beyond Tylenol which was what was being used to keep her comfortable.

Pain management and identification in young children was not a well-known phenomenon at the time and we have since learned a great deal about identifying pain in Kate. Young children cry, and in my opinion, their pain symptoms tend not to be acted upon in the same way as it might be for an adult by doctors. I can recall one night, after Dr.S came on as our pain management and palliative care doctor,  that Kate was in significant pain. I told the nurse she needed morphine, which was the drug we were using at the time to help alleviate Kate’s pain. You must remember that every time we arrived at the emergency department and were admitted to CHEO, we saw a new team of doctors and nurses who did not know Kate, and without a diagnosis it took time to bring them up to speed on what was going on with them. On this particular night, we had to convince the nurse to get the resident, the resident came 30 minutes later and also wanted to ‘discuss’ pain management. In the end Kate was prescribed morphine, but I was incredulous at the time it took and the discussions required. An adult in that state of pain would never have waited long for relief.

At one point we were given a visual pain chart to help us describe Kate’s pain, and we have used this often in her care and episode management. At one time in held a prominent place in her medical binder on the inside cover for easy referral.

A visual pain guide for young children and children who are non-verbal.

Kate is a non-verbal child and still cannot express herself, other than to cry, when her body hurts. We are working with her to help her learn to tell us where she hurts, and we are starting to use this pain guide to hopefully help her guide us on how bad her discomfort or pain is by pointing to the appropriate picture. It may sound terrible, but I take her frequent falls and bumps to the head as opportunities to talk about ‘owies’ and point to where it hurts. Kate is starting to model this back to me, and I feel a sense of hope that someday she’ll be able to tell us more about how her body feels.

We stayed at Rogers House for 3 nights as a family. The staff were very supportive and very capable of helping us by providing respite for Kate. However, it was very hard for me to let others care for Kate and console her when she was unwell. As her mom, I felt so strongly the need to be the one to comfort her. She was sick and needed her mom and I couldn’t let others take on that role. I don’t think it was any misplaced sense of responsibility, but it clarified for me that we might do better at home as a family in our own environment. It also made clear that I was not yet ready for respite care for Kate when she was unwell. It would be a long time before I could leave her when she was sick and still it is only for brief breaks.

May 12, 2009

Kate continued to be irritable, lethargic, and wasn’t back to being able to crawl, or scoot along the floor (her version of crawling). She vomited intermittently and had now been unwell without full recovery since March.  She continued to have difficulty sleeping at night, crying and moaning often. We did the best we could to comfort her, but as parents we felt so helpless. We met with Dr.S Kate’s consultant pediatrician to impress upon him again that Kate needed a better plan for her care and we was beyond waiting for differential diagnosis and investigation. We needed to expedite the referrals for a second opinion that had been discussed at the case conference. We also began to look into nighttime nursing care as the toll of endless nights awake and rocking Kate were taking their toll on Brian and I. We were physically and emotionally exhausted and there was no end in sight. Nursing care was difficult to access for a young child and there was much paperwork to be completed and agencies to contact, combined with my emotions around respite, in the end it did not come together for us and it remained to us to get Kate through the days and nights.

I felt charged to do something for Kate. I called her lead specialists at CHEO to let them know about the episode relapse so close to her hospital discharge. I called the specialists Kate had been referred to at Sick Kids and ensured their administrative staff were watching for the referral documents, facilitated incomplete documents, and ready to give us an appointment date as soon as possible. Dr.S and I worked on identifying another medical facility that might have expertise on rare and undiagnosed disease where Kate might also be assessed.  We began to collaborate on drafting letters to these facilities about Kate in an effort to enlist their assistance.  I also called CHEO Health Records and asked about having a copy of Kate’s complete medical file. I was advised Kate had a very large file and it might be best if I could be more specific about what I needed.  Several days later, with Kate still unwell and in my arms, I sat down in a small room and flagged the pages of her medical chart that I wanted copies of.

We were pulling together a determined plan to find someone who could help us find a diagnosis for Kate. I was convinced this was the only way to help her. If we knew what was wrong we could keep her safe.


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.