“How To Be A Good Guest”

NOTE: We have been home for just over 2 weeks from a close to 7 month hospitalization. This blog post has been sitting in my ‘draft’ since late August. It’s interesting now to read it and reflect on our experience of such a short time ago. I want to say that our family is very grateful to the excellent medical professionals who have taken care of Kate. This is unedited and unrevised. A raw reflection of hospital living.

 

Living in the hospital with your sick child is not something I would wish on my worst enemy.  It is a sad and lonely existence.  It is stressful, exhausting and scary.

You lose all control over your life in hospital: personal space, likes/dislikes, routine, and decision making. You are reminded almost daily that you are not in control, that your autonomy as a parent is no longer. That discussions and decisions about your child, you, and your family will often happen without your presence or input.

And you have no choice. Your child is sick. You need to live this life, sleeping on a small cot, being woken throughout the night because of alarms or lights, physically and emotionally exhausted, separated from home – family and friends, eating what and when you can, limited from going outside or fresh air, living with incredible stress among strangers, all while dealing with incredible stress and heartache.

And you always need to remember to be a gracious guest. Smile. Say Thank You (a lot). Guard your emotions. Accommodate any interruptions of medical staff to your room. Repeat your child’s story endlessly and readily. Expect to meet an endless stream of medical personnel. Try to greet everyone by their title – despite the fact that for months on end they will simply call you ‘mom’. Expect no routine. Be agreeable with waiting all day for 5 minutes with a doctor. And be vigilant about keeping you child safe.

 

Be. A. Gracious. Guest. 

 

Check your emotions at the door – AT ALL TIMES. An almost impossible task given the circumstances you are living, but a clear expectation by those whose ‘house’ you are visiting.

If you are lucky, you’ll work with a medical team who are compassionate, patient, communicative, flexible and transparent. Doctors and nurses who understand your journey and the stress that comes along with it. Professionals who aren’t jaded by working with endless little patients and endless upset and frustrated parents.

Let me warn you. This type of environment and medical team cannot be an expectationWe have been lucky for the most part.

Hospital life is a constant delicate balance about living out a working relationship that includes respect and civility, but in an environment that is created and controlled solely by the medical professionals, and for the parent, under situations of extreme personal stress.

 

House Guest Rules:

  1.  Be Clear About How Long You Will Stay

I don’t want to be here. I would prefer not to be ‘visiting’. I’m sorry, but we have no idea how long we will be staying. I am not in control.

2. No Surprises Please

After living 8 years with a child who suffers from an ultra-rare disease, ‘no surprises’ has definitely been taken off the table. We will surprise you daily. 

3. Choose The Perfect Gift

I will bring you coffee, tea, Timbits, a fruit basket, cookies for the night shift. We are grateful for all that you do for us.

4. House Rules Rules

We will do our best to adjust to your ‘rules’, but we would appreciate some flexibility and compassion about the fact that we are reluctant guests and that some ‘rules’  are not to the benefit of our child. But again, I understand…I am not in control

5. Be Appropriate

I assure you, I am a calm, rationale and appropriate human being 99.9% of the time. I hope you understand that this is an incredibly challenging and difficult time for our family, and I am doing my best to be appropriate. If I am not at all times, I hope you are empathetic and able to be there to support me.

6. Help Out

I will do everything I can to help out. Changing beds, managing my child, helping with meds, holding her down for procedures, interpreting for you and for her etc.

7. Entertain Yourself

Done. An endless supply of stickers, play dough, colouring, puzzles, dolls, toys, crafts to play with. I’ve updated my Netflix subscription as well, and found a few magazines and books to flip through.

8. BYO

If only! An occasional glass of shiraz in a beautiful wine glass shared with a good friend would be so amazing right now.

9. Leave No Trace

Keep our room neat and tidy. Check. We’ll likely leave a trace with you though. Kate is just too adorable to forget. 

10. Give Thanks

We are both grateful and we say thank you every single day.

 

As a patient-mom, I have lived more than my fair share of out-patient, in-patient, short and long term hospitalizations. I understand the medical system and I know how to navigate it – most of the time (it can be difficult and confusing still).

I am a good person, a good mom, and excellent patient advocate. My goal is to keep my daughter safe and well cared for, and I have clear expectations about how that is to be done. It doesn’t always fit with the ‘house rules’ of the medical professional I am working with. So I go back to my “etiquette” and do my best to get done what needs to be done in a collaborative and professional manner. Often times I am relied upon by these same professionals to help them understand my daughter better because of the complexity of her condition. But I am a mom. And I get tired and emotional and scared – and I am not always going to have the patience to say everything in my nice voice. I am not always the perfect “guest”, but I think I come pretty darn close. It comes with working within the imperfect environment of a hospital, and I think needs to be appreciated and understood by everyone involved in the care of a sick child.

 

Julie

 

 

 

 

Are You A Medical Professional?

You wouldn’t believe how many times I have been asked if I am a doctor. Honestly, it never fails that whenever Kate presents at the emergency department or is admitted to hospital that a resident, nurse or attending physician will ask me that question.  Truth be told, I find it a bit flattering and justifying. I guess I’ve grabbed on to the medical lingo pretty well. I can give a ‘coles notes’ on a rare form of mitochondrial disease in a succinct 5 minutes, and carefully expand my knowledge into a 2 hour soliloquy when necessary. I can spin and use all the medical terms that have been laid on me in the past several years, having absorbed them out a sense of urgency and absolute responsibility in looking after a medically fragile and medically complex child. The urgency of ‘understanding’ Kate’s disease and being able to speak clearly about it and in a language doctors and nurses would understand and relate to was particularly important when we had no diagnosis and no case coordination. I was it. I was her doctor for all intents and purposes. Yes, I was bringing her to the specialists who had the training, equipment and facility to further help her. But I was the expert on symptom identification and management at home. It was my intuition and gut instinct that had kept her safe and alive this far. I did feel like a doctor in my own right, a PhD in Kate Drury.

I have lived several lives as a mom with a medically complex and fragile child. When I first engaged with the health care system on Kate’s behalf it was with my trusted and well liked family doctor. I had no reason to doubt his advice to me and his impression of Kate, but what I did not appreciate from the outset is that it was I (as patient advocate) who was in charge and not him. I spent several months listening to inappropriate and incorrect advice before I began pushing for a new approach. This shift from a ‘passive’ patient to a proactive mom marked my first transformation brought on by my acute and intense health care experience. I was no longer dealing with the common cold, or a fevered child. I had entered new territory and a new approach was needed. (And to be perfectly honest, it wasn’t a huge leap for me as being proactive was pretty much in my nature).

Being proactive meant I started to ask more questions, and I did not take what I was told medically about Kate at face value. I wanted more information and I wanted explanations to support the medical advice I was being given. I asked for second opinions and I asked for referrals to physician specialists I thought would have more expertise in looking into Kate’s health status. I was polite and I was firm.

Looking back now I understand that my new life as the proactive parent of a patient was an evolution along a continuum of health advocacy and health care team membership. I moved along this continuum as I gained better understanding, awareness of my role in the health care system and with the health care team on behalf of my child, and recognized my need to be engaged fully in my child’s health care team.

As I moved along this continuum I began to keep a notebook and keep detailed notes on my doctor/patient/parent visits. I started an ‘episode log’ and kept track of all of Kate’s episodes – from their onset, to medications given – how many times she vomited – to additional signs or symptoms. I started a comprehensive medical binder that carried important, relevant and current health information regarding my child. I kept this binder up to date and used it often as a resource for sharing information between and among specialists. I started my own medical file at home for Kate. I copied all relevant medical information out of her chart and continue to this day to make requests of medical records at the hospital to keep this chart and information updated.  I bought medical texts and have read about physiology, metabolics, genetics and more in order to not be left behind while in detailed medical conferences with Kate’s doctors. I learned the acronyms and short form terminology for urinalysis and bloodwork results so that I understood what Kate’s results meant and could identify any important changes myself. I gained some medical autonomy.

I became an integral part of my child’s medical team and found I was often relied upon to provide insight, evidence, information to her team in order to facilitate her treatment. In the absence of coordinated care this was a significant burden, but in the context of a participatory and teamwork approach to medicine, it is integral and can be powerful.

In recent blog post, Susannah Fox talks about the term “e-patient” to describe people who are engaged in their health. While Susannah’s focus is on how we are engaged from the technological point of tracking our patient data and sharing it with our medical team – ideas that are really exciting – the sparks really flew for me when I read further about the term e-patient. Being an e-patient means (among other things) being part of collaborative teams that include patients making care coordination possible, patients petitioning to have their health care data readily available to them, patients having access to doctors notes directly, and where health care providers view patients as full partners.

e-patient  = Engaged Patient

I think I am lucky because I believe my generation, and those that follow don’t feel obliged to follow the former concept of being entirely deferential to the doctor.  Instead I ask questions, and I google and research medical terms and conditions. In some instances I have brought forward potential disease diagnosis for my child that have been further explored by the medical team. I am not bold or overbearing with our medical team, but I am forthright, and I am very aware that they are the experts and have decades of medical school and training, I don’t feel awed or passive when speaking with Kate’s doctors. I describe myself as an equal partner in her care with my own specific expertise and ‘credentials’. I am Kate’s mom.

Julie Drury, PhD in Kate Drury

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

Kate’s Story – Reprise

After reviewing my post last night, I went into my Kate file (a large filing box in the basement) and pulled out the journal I started after her first visit with the developmental pediatrician in July 2008. I am so thankful I have these notes. Not for the nostalgia, but to remind myself of the ‘story’ and everything we went through in the early days – and are still going through. As I read these notes I wanted to clarify a few things that I wrote in my last post and add a bit more detail.

  • Kate was being followed by a neurosurgeon at CHEO because of a head injury she suffered from fall. When she was examined it was noted that previous bloodwork showed a very low blood hemaglobin level (68 – normal is between 110-160). This was never investigated or followed up with by our family doctor – but it did become an important issue later on for Kate. It was in fact the developmental pediatrician who referrred Kate to hematology in September 2008 for follow up about her bloodwork.
  • Both the developmental pediatrican and the neurosurgeon were interested in doing an MRI on Kate due to her non-specific global developmental delay and sacral dimple that was appreciated during an exam.
  • During our first appointment with the developmental pediatrican, a social worker from the Ottawa Children’s Treatment Centre was present. She was there to help facilitate engaging the appropriate therapists for Kate. Suffice it to say whe was less than helpful, and being who I am, I quickly took the lead and took matters into my own hands. When I look back, Kate was initially on waiting lists for everything – including an Infant Development Worker. This worker never appeared – likely because by the time Kate was at the top of the waiting list she was no longer an infant. Because of the significant wait list for OT – which we really needed – I searched for someone privately and hired her to work with us immediately.
  • After that second hospital visit to CHEO, when we were sent home with a possible diagnosis for pneumonia that turned out to be false, Kate was not recovering well. We waited several days and finally returned to our family doctor for help. I was bit more insistent that Kate was unwell and we needed help, perhaps from a pediatrician. He disagreed wanting more information before taking any ‘next steps’.  Not to belabour the point – but there are multiple notes about our doctor ‘not being on top of things’ and me constantly communicating and asking for help. As I read, the feelings of frustration and anger surface again. We should have never been in the position we were left in to be the sole medical advocates for our child.
  • It finally came to me to find a pediatrician for Kate, and we are so lucky to have found Dr.S now who specializes in children with chronic medical conditions. You’ll read more about him in future posts, but let me say this – support, empathy, attention to a parents intuition, sound medical advice and care – that’s all I wanted for Kate and Dr.S continues to deliver on that to this day. We gradually and with finality withdrew from our family doctors care over the next few months.

I want to share with you my notes from that first meeting with Dr.S. Here is what I had written as my concerns re: Kate: development (weak upper body); comprehension (lack of any babbling); paleness; fatigue; eating/nutrition; sleeping (waking every 2 hours and crying every night).

Then I wrote what I would like in his role as Kate’s pediatrician: to have Kate followed closely; to have Kate examined regularly and thoroughly; to have the right questions asked of us; to have our concerns addressed; to know what else we should be looking at or examined re: Kate.

In those first few months there was a flurry of activity. We were waiting on a hearing test for Kate, and MRI, and more bloodwork. OT wanted to do a ‘feeding study’ to examine Kate’s gastrointestinal and swallowing function. We were supposed to be keeping a journal on Kate’s feeding (what and how much), and we were working with the OT to make accomodations to strollers, crib, high chair etc. to provide Kate better physical support to compensate for her hyptonia. We were dealing with a lot of investigation into Kate’s bloodwork (genetic testing, anemia and possible disorders of hemaglobin production). There were concerns about the contribution of Kate’s hypotonia to her ability to eat and swallow, and complications with aspirating her food. We engaged more specialists for Kate in the roles of dietician and an OT who specialized in feeding. There was so much information about food preparation and how to nurse Kate – it could make one crazy. I had forgotten how all consuming feeding had been those first 2 years. Kate is doing so well now with eating and eating all foods now – I had forgotten that at one time we thought she would never progress through ‘thinned’ baby cereal and would end up G-tube fed.

First Hearing Test

Kate had a hearing test at the audiology clinic of CHEO in September 2008.  This test was done at the age of 11 months in a ‘sound booth’ where Kate was to ‘react’ to sounds and demonstrate awareness through her reactions, e.g. looking at an animated animal positioned to the left or right of her.

When I read these notes and look back at it now, knowing what I know now about hearing loss, I can’t understand how there would be any expectation that there would any accurate information from such a test. Kate is almost 5 years old and she STILL does not perform well in sound booth tests for her hearing.

Needless to say the audiologist who performed the test was not ‘conclusive’ in her findings and wanted to have Kate retested in 6 weeks.

Despite the inconclusiveness of the hearing test, I felt that something was wrong with Kate’s hearing and was concerned about her lack of babbling. I asked our private OT if she might have the name of a speech therapist who could assess Kate. We met this PhD for an hour, paid her $150 and were told that there was nothing wrong with Kate’s hearing and that we should simply keep talking to her. I wish I had sent her the audiology report we received that confirmed Kate had moderate to severe loss only a few short months later.

Trying to stay on top of things…

We were started to panic about what to do for Kate and thought visiting an osteopath may help with her GERD, hypotonia, and constant crying. Kate really disliked these visits for the most part, but the last 2-3 minutes when a pressure point was engaged she would instantly calm. (What was that about?). We continued these sessions for close to year, and then eventually decided they were not what Kate needed.

In the meantime, Dr.S was trying to make it clear to us that Kate had some sort of neurological dysfunction that was affecting her in many ways. What was happening was serious and needed investigation. He also made the point that Kate’s condition may be something that remains undiagnosed and may impact her for the rest of her life.

  • Duration
  • Degree
  • Extent

He could be certain about none of these. It was the first time we had heard these words. Kate was 1 year old.

Julie

Searching For A Cure

Mitochondrial disease has been in the ‘spotlight’ this week as Mitochondrial Disease Awareness Week continues. I was inspired by an episode of CBC’s The Current that I heard this morning (see below), and wanted to take a moment to highlight the significant role research plays in trying to find good treatment options or a cure for mitochondrial disease.

Mitochondrial disease is very difficult to diagnose.  At the moment, prevalence is considered somewhere between 1 in 4000 and 1 in 6000. Mitochondrial disorders can vary greatly in presentation, from mild to more severe symptoms, which complicates diagnosis.  It is also difficult to pinpoint because the science is not yet sophisticated enough to identify the disease readily or easily. The good news is that this is changing at a rapid pace. A few short years ago, when my daughter began having significant symptoms, a muscle biopsy was performed to try and diagnose the disease. Two to three years ago this procedure was considered the ‘gold standard’ for diagnosing the disease – and in some cases still is. Now genetic testing has become much more sophisticated and many researchers are moving toward this area of investigating the disease for diagnosis. In our case, axiome genetic testing was performed using the ‘mitocarta’* which is essentially an inventory of genes with mitochondrial functions. Since KK was highly suspected to have mito, it made sense to focus diagnostic genetic testing there and to see if indeed there were any ‘funky’ genes. Once identified, the most suspicious genes were then compared to my DNA as well as my husbands, and voila – diagnosis.  This took a full year to complete, but even that timeline is changing.

Mitochondrial disease is also a key area of investigation with some major and reputable diagnostic facilities. In October 2009, we took KK to the Mayo Clinic in Rochester Minnesotta. We were searching for a diagnosis for our child and had hope that a major research and clinical facility such as the famous Mayo could help us. We came away with the same information that we had from our Canadian doctors – KK had ‘probable’ mitochondrial disease, possibly a phenotype of MNGIE (a type of mitochondrial disease) but they could not prove it. However, when we left Mayo we were asked if we would allow KK’s blood and tissue samples to be part of a ‘biobank’ they were starting for mitochondrial disease. We decided we would, and now this Mitochondrial Disease BioBank at Mayo* has grown to a very significant global program.

Today on CBC Radio (I”m an avid listener), The Current had a very interesting program on IVF (in-vitro fertilization) to help prevent the occurence of mitochondrial disease in parents who have had affected children. Three person IVF is a form of mitochondrial replacement therapy. The replacement comes from inside the egg of a donor.  The researchers are now looking into conducting human trials.  It is controversial, but what inspires me is that this type of research is happening. Scientists are looking for a way to help families like ours – to help children like Kate live a healthy and full life.

As Mitochondrial Disease Awareness Week continues, my hope is that awareness builds among the public and interest continues to grow within the research community. I hope that one day when I am asked ‘what is wrong’ with Kate I’ll be able to say, “She had mitochondrial disease, but now she is cured.”

* Mitocarta  http://www.broadinstitute.org/pubs/MitoCarta/index.html

* Mitochondrial Disease Biobank – The Mayo Clinic  http://mayoresearch.mayo.edu/mayo/research/mitochondrial-disease-biobank/

* Three Parent In-vitro Fertilization  http://www.cbc.ca/thecurrent/episode/2012/09/19/three-parent-in-vitro-fertilization/