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

First Hospitalization cont.

Kate’s first hospitalization in November 2008 was very intense. There was an incredible amount of investigation into Kate and her health and more than several doctors involved. At one point the very deliberate and approachable medical team on the floor (attending and senior resident) were replaced by another team. What I have come to learn over the past 5 years, and recognized very early on, is that not all doctors are capable of providing the insight and support a family needs when their child is in a medical crisis. As I read back through my notes and see the mounting list of questions I had for the doctors, the attending physician would not meet with us. She would round and then have her senior resident speak to us. Despite our requests to speak with her directly, she never came to Kate’s room and we never met her – we only knew her as behind the scenes. I mention this because I have had a lot of experiences with doctors – good and not so good – and the one thing that is most essential to a family with a medically complex and medically fragile child is communication and showing that you give a damn.  If those basic tenants are there, we can work together – if they are not, I have big concerns.

November 19, 2008 we are still in hospital and meet with the senior and junior residents of genetics, they describe to us that they are conducting chromosomal type ‘carrier’ tests’ on Kate looking for abnormalities as a cause of the medical conditions that are being diagnosed. One of these tests is a microarray analysis which will be sent to the US. The metabolics/genetics team are using Kate’s hearing loss as a starting point for a possible chromosomal or genetic disease as certain types of disorders of the cochlea can be related to genetic diseases.  This would be our first of many experiences of sitting down with a geneticists and providing extensive details about our family health history. The team also examines Kate closely and body measurements are taken – including facial conformity. As Brian and I make phone call after phone call, and send email to family members asking them for health history and to let us know about anything unusual about health history of cousins, aunts, uncles etc., we start to wonder about how realistic it is that they will find out what is wrong Kate. Despite the multiple times we were asked for a detailed family history – nothing substantive was ever found. (I am sure I repeated that genetic history at least 5 times in great detail).  We needed family history on developmental problems, learning difficulties, seizure disorders, migraines, hearing loss etc. We felt like we were searching for a needle in a haystack.  When we were hospitalized and the flurry of investigation began, we felt almost ‘happy’. We thought we would get answers and be able to ‘fix’ Kate and make her well again. Doubt about that assumption was now starting to creep in. As the genetics team left the room, they mentioned in passing that they were also looking at thalassemia, but were likely dismissing it due to our racial background. They told us they would consult with metabolics and examine Kate’s blood lactate (which was high), ammonia, urine and blood gases – and if they should order any further specific tests.

That same day we met with neurology to review Kate’s MRI that had been done at the same time as her sedated hearing test (BERA). Neurology went through Kate’s history again with us. Asking for detail after detail about the last 12 months.

How does she interact with you?

What toys does she prefer?

Does she make sounds?

They asked us about her vomiting, eating, bowel movements, urine, crying (which was constant), sleep patterns, fever history, respiratory details, skin color during her ‘episodes’, rashes, growth, concerns with development, GERD, anemia, hearing, other illnesses, immunizations, allergies.

The questions were detailed and endless – and then neurology discussed with us the MRI findings: Kate had a delayed pattern of myelination of the brain. Myelin is the ‘white matter’ material that covers the brain that is essential for a normally functioning nervous system, but it is a symptom and not a diagnosis. You may have heard of it in connection to multiple sclerosis where plaques develop on the white matter thus impairing its function.

Kate’s myelin pattern was not at a normal stage of development, it looked more like a 5-6 month old, but it was unclear why. Gluteric acid urea was mentioned, as was mitochondrial disease. Neurology were interested in collaborating with the other sub-specialties to determine what this meant, and they told us they could not predict what would this mean for Kate’s future without a fuller picture.  They did feel it was an important piece of the puzzle to the investigation of what was happening to Kate and would require close examination and further tests by metabolics and genetics.

Having a functioning brain and nervous system is a pretty big deal for humans. We knew that this news was important – and we were confused about the non-specificity that the doctors were providing us with. We wanted to ask for more detail, instead we absorbed this information as we’d been absorbing things all day. Things were getting more and more confusing to us each moment and with each discussion with a specialist. The waiting game of trying to figure things out for Kate came with a ton of pressure and worry.

The neurology discussion was interrupted by metabolics who were back to schedule more tests for Kate. Additional bloodwork would be needed and an eye exam, ECG and UV light exam were also scheduled. (We now know the UV light exam was looking for porphyria among other things. Porphyria had been a question more than once). Kate’s blood was now being sent to McMaster University in Hamilton as the hematology team at CHEO had found something ‘interesting’ about her blood that required detailed laboratory follow-up not done in Ottawa.

Our discussion with neurology was not over, and the neurologist, Dr.D who is with Kate still, was joined by the consulting neurosurgeon. Something else had shown up on Kate’s MRI. Kate had a small dimple on her lower spine that had been detected during a physical exam by neurosurgery several months previous. A spinal syrinx  (or syringomyelia) could mean there is  tension on the spinal cord. The feeling at that time was that Kate was asymptomatic and that she was still too young to determine how the syrinx might impact her neurological functioning. What was interesting and different about Kate’s syrinx is that she had 3 small beads – which we have come to call her ‘pearls’ at the position of L3L4.  The team felt it was important to conduct a urodynamic study on Kate to see if her bladder was functioning with normal pressure which would be a first indication (in addition to bowel function) that there may be a problem. If all appeared well for the moment, Kate would be followed closely by neurology with annual MRIs and close monitoring should any changes be noted.

My notes at the end of that day capture my thoughts and where I was emotionally really well. Here is what I wrote:

If the myelination is delayed can it actually stop at some point and this is all she gets? Is the delayed myelination progressive – will she get worse? Is it reversible – can we improve it?

Is this just a ‘wait and see’ or can we do more? What other symptoms can we expect? What other systems might be impacted? What is the underlying cause of these episodes?

Is she in pain and we are not recognizing it?

Make a list of pending tests, current medications, doctors involved.  Organize a medical binder for Kate’s information.

What are her episodes, and what is happening, to her body fatal?

 

On November 21st Kate was discharged from hospital. The discharge notes outline the plan for further tests, investigations, and list appointments, We now had with several pediatric sub-specialties: GI, Audiology, ENT, Neurology, Metabolics, Developmental Peds, Hematology.

We asked the obvious question, “what do we do if this (the episode) happens again?”.

 

Julie