Recovering

Things are getting better here at home. As you’ve read, our fall has been not so great. Kate’s mitochondrial disease has caused several acute episodes that have required hospitalizations. It’s been a rough go – especially for Kate. I would say she turned the corner as of this last weekend – her energy has improved, she’s happier and more herself. Her colour and walking are much better, and she no longer carries the pinched look of discomfort on her face.  As a family we are getting back to our usual routine and Brian and I are catching up on all the things that get set aside when Kate is not well.

I know that people still don’t get Kate’s disease when they see her after she has recovered from an episode. “She looks great!”. “It’s so hard to believe she’s sick”. “So she’s better now?”. These are some of the questions that we are asked or comments made when Kate finally gets out hospital or medical day unit care after an episode. As I write this I do not want to sound ungrateful for well intentioned friends and acquaintances inquiring after Kate. I don’t intend to be – and I really do appreciate that people are concerned for her. But I am not sure what they see when they look at Kate. I am not seeing the same thing when I look into her pale and tired face, with that tinge of grey.  The active little girl who won’t leave her stroller to play and is constantly wanting to be picked up and comforted.  The happy little girl that sits quietly while others talk about her and around her.  The exhausted little girl that can’t muster the energy to play with friends at the end of her kindergarten morning, so instead sits and waits for me to arrive. The five year old that has enough brain damage from her disease to have caused profound developmental delays.

What I am learning from these comments is that Kate’s illness is also hard on the other people in her life – her neighbours, her (adult) friends, her champions. They want her to be ok, and by stating as fact that she’s ok, maybe it make them feel better about Kate’s recovery and disease. I also know that it is very hard to understand her disease and how chronically unwell she is and how sick she can get.  I know the intention is to buoy my spirits or make me feel better about Kate’s most recent recovery, but other times, it makes me feel like people don’t understand or appreciate that Kate is chronically unwell. I feel like I have to explain her illness and what happens to her, and the seriousness of it. I’ve come to realize through a lot of reading that this is standard territory for those living with ‘invisible’ diseases.

In the early days, I wanted to explain her disease to everyone I met and update them on her condition. I think I was also explaining it to myself, and absorbing the pain and loss a little more each time I told the story. Now I seem to hide from those conversations. I don’t want to explain anymore, I find it exhausting. I can pick up on the most recent part of the story, but to explain things from then to now, I can’t. And so I avoid the school yard, the local coffee shop, grocery stores when Kate is recovering. I shut down and cocoon.

 

I’ve been asked after this most recent episode what I need, what help we could use. I’ve thought about it a lot and wanted to be really honest about what help we could use. I have a really hard time asking for help from others. We have no immediate family close by to help us and I find relying on friends hard to do time after time.  I thought it would make an excellent blog post for my CHEO Moms and Dads gig. Another blogger mom beat me too it though. So I’ll thank CHEO mom blogger Ashley for the following tips on how to support a mom (or dad) while their child is in hospital (with my added comments in bold). I also want to add that this list also applies to the week or so after a child returns home from hospital, when they may not be well yet and the family is still under stress.

If you know someone that has a child in hospital – here are a few tips on how you can help:

  • child care (look after other children that they may have – and make it FUN! the kids need help too)
  • making meals (they still need to eat, but may not have time to make something healthy or the desire to cook, being able to heat something quick will help them a great deal)
  • if your close, you could offer to help with household chores such as laundry, snow shovelling, grass cutting
  • make a hospital package (a tote filled with snacks, drinks, magazines, books and GC’s to the hospital restaurants/coffee shops)
  • children can also use a ‘hospital package’; dollar store toys, stickers, videos, easy games (all age appropriate) can go a long way to helping a little one cope with the time in hospital
  • be company for them – if they need someone to sit with for a half hour OR if they want to grab a shower but don’t want their child alone, you could sit with in the room for them.
  • just being there. Call, email whatever you can…while they may not be able to respond immediately, knowing your thinking about them will help to lift their spirits
  • don’t be offended if they don’t take you up on any of your offers. It is very difficult to accept help sometimes, but the offer itself will be extremely appreciated (and keep offering because we may not say ‘yes’ right away)
  • sometimes we don’t know what we need, or don’t have the energy (or a brain cell to rub together) to have something specific in mind. In those cases, just do – there is always something that can be done to help others out.
  • offer to watch children and let the mom (or dad) catch up on sleep when they do finally arrive home

 

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