Category / Mitochondrial Disease

by Julie

November 30th

Every night, before I went to bed, or even in the middle of the night if I had woken, I would check on my kids. Go into their rooms and watch them sleep for a moment. Hear their gentle breathing and sometimes put my hand on them to feel their chest rise and fall. Then I would settle back into my own bed and have a sense of warmth, safety, comfort, and feel that all was right with our world. If you can do this, you should.

 

Kate died on this date 2 years ago. I watch it creep closer on the calendar and I both wonder and dread what it will feel like. And now it is here. It’s a Thursday (not a Monday). It is cold and crisp outside. It’s a bright sunny day. Cars drive by. Kids walk to school. Brian has already left for the day, and Jack is off to school. The world keeps turning, and I ask myself the same question I ask every day – how is it possible that the world keeps turning?

My mind slips back to the few days leading up to Kate’s death, and as last Friday, Saturday, Sunday, Monday came and went, I found myself reliving and remembering the events that led to November 30th, 2015. I didn’t greet those memories and let them in, but I also didn’t try to shut them out. They are there and they were simply surfacing. I acknowledged them, and let them come and go. I may have even shared one or two in a trusted space.

There is a term used in the bereavement world called “grief bursts”. They are short periods of intense grief and sadness often brought on by a memory; auditory, visual, smell, touch. The feeling is intense and overwhelming. That would be the past few days for me. It’s not lost on me that I was a hot snotty mess at Bridgehead on Monday, or that I cried in front of peers on Saturday, or cried with a friend who had come to ‘check in’ on Sunday. To feel so much numbness and pain wrapped together today. I knew these days were coming and I tried to steel myself to the memories. It’s a ridiculous space to be in – to seem ‘normal’ to the outside world, to know that few friends  ‘get it’, to notice others who carry on, to try and function.

I work really hard every day to move through the thick dense fog that has become my way of feeling and sensing through the world. Some days the sun peeks through and there is light. Sensing and feeling become easier. Other days, most days, I sink and the numbness sets in, and I feel like I am moving through time and space at a fraction of time different than everyone else in this world. Like my world is shifted. It’s imperceptible to others, but it affects how I see things.

There is so much I want to share about what happened, about Kate, this journey, the coping (the not coping), what needs to change, what I understand will never change. There are so many words and sentences, paragraph rants rolling through my mind, wanting to get out and be shared. It takes energy, and I often don’t have it. It takes courage, and I am not there yet with sharing parts of the story and journey.

What can I share…

I am broken and that will never change. The ripped and shredded heart in my chest is scarred and maimed and bleeding. I place my hands on it. I can feel it. I try to nurture some healing toward it.
There is no cure – I am told – maybe time. Maybe.

I am hurt, and I am angry. And that story needs to be told another time in another space.

I live with intense regret peppered with shame and enveloped in grief. I want to turn the clock back everyday. I. Want. Her. Back.
And I can’t have her. And when I realize this, everyday, it stuns me.
I want to change the decision, the information, the conversation, the guidance, the momentum around the bone marrow transplant. I want another person to step up in the storyline, someone that would speak up – with authority – and state the reasons that this should not proceed. I want to shift the timeline to a point where I make a different choice, at any point along this journey, and where I allow myself to be scared, vulnerable, and upset, and can say No to those pressing us forward. Where I take that tour of the bone marrow transplant unit and say No. Where I sit around a table with 20+ doctors who I feel I am trying to educate about Kate, and say No. Where I sit in any one of the meetings and discussions about the bone marrow transplant and I remember how amazing Kate is, how we are coping, how fragile she is to any change, and I say No. Where I ask the question, “should we do this” and someone says No.

I want a chance to make another choice. I want to have learned from someone else, not others learning because of Kate.

I want to be able to go back and say No.

I want. And I can’t.

And it breaks me every single moment of every single day.

So there it is. Massive grief burst, but only a big wave amongst the smaller waves that I live with every day.
When I read about grief journeys, or hear about them, mine seems spectacularly far to the right on the spectrum. An outlier of intense pain, sadness, and intense regret.

Kate died at 10 p.m. on November 30th. Brian, Jack and I were with her. She didn’t look like herself, her hair only slightly grown back from her chemotherapy, face puffy and distorted from medication, tubes sticking out of her, oxygen shoved into her face. The denial of what was happening had been stripped away, but also remained. We sang to her, told her stories, held her hand, we told her we loved her. She was so intensely loved.

We watched our beautiful child die over 9 short months. She lived in isolation in a hospital away from home, she was poked, prodded, examined by strangers, put through painful procedures. Some people took great care of her, others did not. And she was endearing the entire time.

Kate was amazing. She was the best parts of Brian and I.

I marvelled at how happy she was, how much she loved, how much she was loved. She exuded an incredible light that came straight from her soul. You couldn’t meet Kate and not love her. The loss of that love is so wrong.

I want to take it all back Kate-o.
I’m so so sorry dolly.

by Julie

Kate Drury – One Year

Katherine Carol Irene Drury was 8 years old when she died. She was a beautiful green/blue eyed girl with soft blond hair, an impish grin that crinkled her nose, and a wonderful giggle. She liked princesses, Dora, Curious George, puzzles, play dough, singing, friends, school, chips, french fries, pasta, boating, pools, sledding, gymnastics and beaches. She loved to be outdoors. She hated ‘pokes’ for IVs or bloodwork. She was curious and made friends with everyone. She loved her van and doing any assortment of errands. She was deaf and had cochlear implants. She learned to speak and had sign language as well.

She was frequently sick and often at CHEO. She inspired doctors, nurses, researchers, the mitochondrial disease and SIFD community, her friends, family, neighbours, community, and people across the world.

She was a trailblazer when all she should have been was a child. Even in her death, people are still learning to be better because of her. 

 

Kate died November 30th, 2015 at 10 p.m.

I have no more words to describe what happened in those final days. I have shared what I can, sobbing as I wrote those 5 essays. So hard to write them.

I loved my daughter with all my heart. I still love her with all my soul. Brian and I are devastated at her loss. It feels surreal. Jack is speechless and extremely personal about his grief. ‘Ruined’ is how I describe myself. I often look at the calendar and think, one more day, week, month, year without her. I wonder about how long until I am with her again. I struggle every moment for composure. I work hard at putting one foot in front of the other.

Our lives are quiet, filled with too many hours. Kate took up so much space and energy. The void she has left cannot be filled, we have not been able to adjust. Her laughter, giggles, physical needs, medical needs, took up so much time and emotional space for all three of us.

I wake every morning and open her door and whisper the words, “Good morning dolly”. I close her door in the evening (at her bedtime) and sign “Good night Kate-O”. Her space is unchanged, her smell lingers, her room is a sanctuary for her spirit.

I talk to her. The conversations happen spontaneously and feel so real. She signs and speaks to me. “Miss you”, “Love you”, “Come”, “Jack”, “Papa”…”Sad”. They are her short sentences that have so much meaning.

I reply back to her; “Oh baby-girl, I miss you too”, “Yes dolly, I love you”, “I will come Kate-O, soon” (and she signs back “soon”), “Yes, Jack – Jack misses you too”, “Papa loves you”…”Yes, Kate-O, mama is sad. I miss you.” I feel she is confused about what happened and the veil of separation that exists between us. We are so close we can almost touch. She is happy and safe, but waiting for me.
And then, I feel some relief. I love when she comes to me. I love when I can feel her arms wrap around my neck, “Sq-eeez”, she says. Or when she visits with a beautiful sunrise of pink and purple. Or when she kisses my cheek and giggles. Or grabs my face in her hands and puts her face so close to mine. It feels real, there is a physical sensation, her presence is so strong and powerful.

She visits others, and those accounts of “Kate visits”, feel so real and are so beautiful. I am glad she is spreading her love.

Kate was a very unique child and spirit. Yes, I was her greatest champion and advocate, but I cannot take credit for what a force she was in this world. She was a gift that I was entrusted with.

Her death was a tragedy. It should not have happened and I will never forgive myself for the decision we took. I feared her disease taking her life unexpectedly. I wanted to help her live a full life and one that might have been less difficult. I became convinced this was the best choice to realize that. I could never have imagined this would be the end of Kate’s life, or been prepared for the circumstances leading up to her death. I had so much more to do with her, and she had so much more to share with all of us. She deserved so much more.

Thank you for your beautiful tributes today. Pictures, posts, messages…they are truly touching and I will read every one.

Julie 

by Julie

Running For A Reason #fightlikeagirl

A few weeks ago I was asked to interview for a local newspaper. The piece was focussed around International Women’s Day #IWD2016. It was an honour to be asked. It was a difficult interview to do. The author was limited to a 650+ word count and I wasn’t sure how she would tell ‘my story’ in that space. I think Bhavana (Gopinath) did a good job of condensing our 2 hour conversation. She describes me as a mother, advocate, and athlete. I think those three nouns describe me well. Here is what I might add to the article:

Julie is in an incredible amount of pain and lives most days moment to moment. She can’t seem to process the tragic loss of Kate. She feels the shadow of her little girl with her at every turn. Every morning she opens Kate’s bedroom door and says ‘hello’. Every night she closes it again and blows her a kiss  ‘goodnight’. Kate is there when Julie sleeps, and she is the first thing she thinks of when she wakes.

Julie finds peace and empowerment in supporting other parents to navigate and survive the complexity and frustration of a medical system, and community care that are not structured to support medically complex and fragile children like Kate. She wants to be a voice for change, and as she gets stronger she will continue to seek out the right opportunities to do that. Opportunities that are real, and where people within the system are dedicated to real change. 

Julie doesn’t want Kate’s death to be simply accepted. She would like to see learning happen, and the opportunity for growth of knowledge and skill in assessing, managing, and treating medically complex children.  She knows Kate’s death comes with a heavy lesson, and that one day there will be a better treatment for SIFD and mitochondrial disease, possibly even a cure. 

Julie runs because that is where she feels strong – and where she also feels pain. Her sweat conceals her tears. The burning in her lungs and in her legs reminds her of what Kate had to endure and her strength. She listens to music that inspired her all along Kate’s journey. Her running partners remind her of the people who have rallied around her family, and that she is not alone. Running in solitude gives her peace and the opportunity to live a few of the lessons Kate taught her – strength, endurance, living her best life.

 

On May 28th, 6 weeks after I run the 120th edition of the Boston Marathon , I will run the 42.2 kilometres of the Ottawa Marathon as part of Team MitoCanada.

This is one of my steps in building Kate’s legacy.

Team MitoCanada Ottawa will run in honour of Kate this year. Our trademark “Team MITO” shirts will be pink, Kate’s favourite colour. Over 100+ runners will participate in the 2k, 5k, 10k, half-marathon and marathon events to raise awareness and money for mitochondrial disease. All money raised at #runOttawa2016 will be presented on behalf of MitoCanada to the Children’s Hospital of Eastern Ontario (CHEO) Research Institute as they pursue research into SIFD and mitochondrial disease.

If you would like to participate as a runner, and help us fundraise toward our goal of $42,200, we would love to have you.

To donate to Team MitoCanada Ottawa Race Weekend, please visit my #runOttawa2016 fundraising page.

#fightlikeagirl

 

Running around the 5k race course at Ottawa Race weekend 2014.

Running around the 5k race course at Ottawa Race weekend 2014.

IMG_1520

Team Drury – Team MitoCanada Ottawa Race Weekend 2014

 

Julie

by Julie

A Month of Anniversaries

I wanted to share this blog post this past Saturday. It was the actual 4th anniversary of being told that Kate was diagnosed with SIFD. (Things have been a bit busy since Saturday).

November is also notable for Kate being diagnosed with hearing loss – and needing hearing aids, followed by her diagnosis 2 years later as being completely deaf. November carries a lot of emotional weight for me.

But this is about SIFD…

Kate suffered for over 4 years with an undiagnosed disease that caused multiple medical issues, and medical fragility. In the midst of an incredible diagnostic odyssey that led us to visit four different major hospitals in Canada and the US, and have Kate’s blood and tissue flown around the world, in the fall of 2011, our family (Jack included) did a simple blood test as part of FORGE (Finding of Rare Diseases in Canada), a genomics project led by Dr.Kim Boycott. The purpose of FORGE was to examine undiagnosed children suffering from rare diseases and see if they could identify the disease through national collaboration of physicians, scientists and researchers. In our case, our metabolics doctor, Pranesh Chakraborty, went one step further and collaborated internationally with a team from Boston to identify the TRNT1 gene that causes SIFD.

I’ve always said that I was waiting for the huge SIFD announcement. The national or international recognition of an ultra-rare – and devastating – disease to have been identified. But the sharing of the SIFD diagnosis for the first child ever, happened in a small consultation room at the Children’s Hospital of Eastern Ontario with two parents, their trusted physician, and his notes. It was a simple conversation, both Brian and I had ‘donated’ the same shitty gene to Kate and the result was SIFD. Our children had a 1 in 4 chance of inheriting this previously unknown disease.

Genetics is helping to identify these diseases more and more, and a new/novel disease discovery just isn’t news worthy any more. I can tell you that for the 7 families with children living with SIFD, and the 20+ others whose children have died from SIFD, it is huge and the anniversary of knowing is very significant, so we ‘celebrate’ the discovery of SIFD with quiet and personal reflection about that day and that conversation in the tiny consultation room with our metabolics doctor.

I remember the moment we found out about SIFD very well. It is one of those emotional memories that you can physically feel as you recall it. I thought I would feel so differently. I thought knowing what was ‘wrong’ with Kate would change everything. That I would be maybe elated or excited that we finally had an answer. Instead, I felt empty and numb – and came to the slow realization that there was monumental mountain of the unknown facing Kate and our family, and that we still really had no answers to help her. Nothing had really changed.

So here we are on the 4th anniversary of the discovery of SIFD.  CHEO released this little blurb a few weeks ago about it.

Teamwork solves the riddle of SIFD

If it takes a village to raise a child, in research, it takes team collaboration. Teamwork and new perspectives can rocket discoveries forward and help make incredible progress. At the CHEO, we see progress every day that directly benefits our patients.

Dr. Pranesh Chakraborty, a metabolic physician and Director of Newborn Screening Ontario, and his team partnered with clinicians and researchers at CHEO, to determine that mutations in a specific gene were likely responsible for causing SIFD (sideroblastic anemia, immunodeficiency, fever and developmental delay) in one of the young patients at CHEO.

Dr. Chakraborty’s lab, with the help of Dr. Martin Holcik’s Molecular Biomedicine lab, was able to rapidly kick-start the needed research – something neither could have done alone.

As one team, they were successful in their quest. And in 2014 they proved their hypothesis that the cause of SIFD is mutations in a specific gene. Their success came from teamwork not just across CHEO, but across borders. The CHEO team joined forces with researchers in Boston and clinicians around the world to make this discovery.

Like modern-day Sherlock Holmes, these researchers are medical detectives examining the clues in our genes to identify those which cause rare diseases. This kind of teamwork embodies CHEO’s values, and allows doctor and researchers to expand the field of medicine, and in particular rare disease research, at the pace they do.

 

Here is what I would add to this short article:

“And thank you to Kate Drury, a brave little girl, who donated her own genetic material so that this discovery could be made. A little girl carrying the weight of a genetic discovery on her shoulders. A little girl whose family never gave up to find a diagnosis for her. One of only 7 children alive with SIFD in the world today and the only Canadian alive with SIFD.”

 

Julie

by Julie

Home

I haven’t written a post specific to Kate in quite some time. I think the last one was when we had it hit day 110 and had already experienced many serious complications post bone marrow transplant. As I reflect back on that post, I can feel the raw emotion of those days. The exhaustion, fear, and anxiety. The crushing guilt of having made the wrong choice for Kate. Not knowing what the next week, or month, or her future would hold. Not knowing if she would survive, or come out of this entire mess intact.

And here we are, 7 months post bone marrow transplant, 219 days. I’m not sure much has changed. Except…

Kate is home.

She is not well, in fact she is still very sick. I think many people understand that when you are home from hospital you must be ‘well’ and ‘recovered’. Kate is neither. She is home because we fought hard to get her here. We saw her wasting away in a hospital bed day after day, and we saw no significant changes in her care or treatment, only unending complications. Any child in that environment would not thrive or survive. We could see the ‘shift’ happening in Kate – quieter, less enthusiastic, disinterest in getting out of bed, sadness and tears when her dad or brother visited and then left for home again. She had become accustomed to her little world of four walls and seemed resigned if not accepting that this was her world. She still had her smile and he chuckles, but a shift had happened.

 

The Shift

We received very difficult news about Kate in late August. Terrifying news. And we made a decision at that time that Kate would come home. As a child who required total parental nutrition (TPN), this was complicated. One of us had to be trained to manage her PICC (peripherally inserted central catheter), and the obvious choice was me because I was in Montreal with Kate, and most at ease with her medical equipment. Getting trained was another matter – we had been asking about ‘home TPN’ since July. We had been told that ‘yes, this was possible’, however, jurisdictional issues came into play as Kate was an Ontario patient in a Quebec hospital. It was not clear who would deliver the training I required and how they would address the issue of different equipment and set up. So we were delayed – again and again. Eventually it was our bone marrow transplant team at Ste.Justine who stepped up and provided ad hoc training during breaks in our daily hospital life. The home care team in charge of TPN training at Ste.Justine refused to assist us, or train me because of the jurisdictional issues, and Ontario would not let Kate come home unless I was trained. Our home hospital in Ontario does not do TPN training and we were given the option of transferring Kate to Sick Kids (who co-ordinate all TPN for children in Ontario) where we would have 2 weeks of intensive TPN training. I obviously said no to this as transferring Kate to another hospital was clearly not a safe option.
So, bedside training it was…sneaking away to a room to learn about pumps…reviewing heparinizing her PICC…antiseptic protocols…accessing the TPN to add some specific vitamins for Kate etc. It was a crash course and it was perfect (Thank you Karine and Martine!).

With TPN training ‘done’, now we had to sort out all of Kate’s complications, determine which medical team and specialist was the lead for what, outline an emergency care plan, outline a general care coordination plan, and have a comprehensive discharge planning meeting to discuss concerns or questions. Brian and I split that discharge planning meeting between us. He was in Montreal with our team of doctors and specialist there, while I attended the meeting in Ottawa with our team there. It was a typical multi-D (multi-disciplinary meeting) about Kate that we have done many may  times before, with about 20 people in attendance. After that meeting, a plan was beginning to come together.

 

Coming Home Would Be Complicated…

Kate’s bone marrow transplant was supposed to require 6-8 weeks in hospital. This would be followed by  a 6 month recovery in protective isolation at home, while her immune suppressive drugs were slowly weaned as her new immune system started to take form and recover. She had a perfect sibling match and was therefore at very low risk for unforeseen complications. She would be back to her life better and ‘healthier’ in 8 months to a year.

This was not the case for Kate.

Kate developed a serious condition post-bone marrow transplant called GVHD – graft versus host disease. Her GVHD recurred 5 times between April and August, and became dependant on steroids. This means even with careful reduction of her steroids, at a certain threshold of dosing – the GVHD would flare again. We also tried several types of immune suppressive drugs over the summer – hoping that we might find one that would be better at controlling the GVHD. Eventually, in August, the team at Ste.Justine took a very aggressive approach to the GVHD that was attacking and destroying Kate’s gastrointestinal system. By this time, Kate had not eaten orally with any kind of regularity, since mid-March. We had attempted several times to kick start her intestines with ‘trophic’ feeding through her NG tube of supplemental nutrition, and we would get to a certain point only to slip back into diarrhoea, nausea and vomiting. The symptoms of GVHD. We had at least 3 different discharge dates over the summer, that we would reach within days, only to slip back into the GVHD cycle. Then throw in a couple of courses of antibiotics for suspected infections, and a true blood borne infection that ‘stuck’ itself to her PICC line – requiring intensive antibiotics and the removal of her life sustaining PICC for 10 hours.

We were stuck and we felt like we would never get Kate well enough to leave the hospital.

Physically we could see Kate deteriorating further because of the prolonged time confined to a hospital room where she spent most of her day in bed. Kate wasn’t allowed to play in the hallways with the other kids, or go to the playroom, because of protective isolation – keeping her safe from others because of her immune suppressed state. She was allowed to roam the hallway on the third floor transplant unit – alone, but she tired of that trip pretty quickly.
Kate had also developed a tremor which we believed was from her medication. The tremor affects everything Kate tries to do independently – drink, dress, walk, play. The only time she gets a reprieve from it is when she is asleep and her body finally relaxes and does not shake. Muscle biopsies and scans did not show a specific cause for the tremor, but did now significant atrophy of her muscles and poor mitochondrial functioning (poor energy supply to her muscles). Combined with her significant weight gain from steroids, Kate was walking less and less.

In August, when we received very difficult news. I was home for a short weekend with Jack, maybe my fourth of the summer. Brief breaks where I could sleep in my own bed, change out my clothes from Montreal, enjoy the quiet of my home, and spend some time with Jack.
On that weekend, I received a call Friday morning from Brian and Kate’s doctors. I was asked to come back as soon as possible. I took Jack with me.

Kate had developed a very serious and unforeseen condition. We left our children with the nurses, and went to a meeting room with her lead BMT doctor and Kate’s nurse. We were given the details about what they had found after some diagnostic testing. We were told the condition Kate had developed was serious, and that given what they knew about her disease, she would likely die from it. We tried to be smart, to ask questions, to try and find the loop-hole or the error they had made in coming to this conclusion. Our doctor has kind eyes, and they are always full of hope. When I looked at him that day, I saw sadness – profound sadness for us and for Kate. In that moment I felt bad for him – that he had to take on this task. I asked him how many times did he have this conversation with parents?

He said, “too many times”.
I asked what we should do? What do we tell Kate? Jack?
“Kate is already showing you what you need to do” – he said. “You just need to follow her lead, she is going to show you the way”. “Just love her and follow her lead.”

Such powerful words. And true words.

And that was when we told the team we were taking Kate home. And they agreed.

 

And Now…

Obviously the epilogue to that moment is that Kate is doing much better. The condition she had developed stabilized to everyone’s surprise. It has not been ‘fixed’, but she is living with it and it is monitored regularly. We spent that weekend with our kids, loving them and playing with them. Taking them on picnics and taking pictures. We laughed and in the next moment we cried. Our hearts ached constantly, and we felt sick with fear – but we were focussed on ‘following Kate’s lead’ and she is a joyful and happy child, even when she is struggling.

On September 17th, we packed our van and left Kate’s room at Ste.Justine. I had joked with our nurses that when it was finally our turn to leave the hospital – as we had seen so many others do before us – I wanted a parade and balloons. Our entire team made that happen for us – cheering Kate on as she left room 2-12-23 for what we hope is the last time. (Since Kate has been gone, 4 weeks later, they still refer to room 23 as “Kate’s room” had haven’t had another patient in there yet.)

Home has been amazing – and exhausting. It has taken a lot of time and way too much energy to settle in. Issues with our TPN pumps, trying to set up a workable schedule with home care nurses and personal support workers, fighting to get Kate the rehabilitative therapy that she needs in place, trying to get back into a routine as a family after having lived apart for 7 months, and incorporating all of my new nursing skills and duties have been some of challenges we’ve had to meet.

I can honestly say that now, at week 4, despite being tired, we are finally feeling settled. Kate is doing well. She is happy and wakes every morning with a smile. She loves being home with her brother and we have seen a big change in Jack. He has carried an incredible weight for an 11 year old boy – not to mention the fact that he feels responsible for Kate has her bone marrow donor. I am happy to see them together again.
Brian and I are doing our best to keep medications organized and on time, prepare food for Kate (yes, she is eating again…slowly) according to antiseptic prep protocols, and keep our home sanitized and a clean environment for Kate. There is endless laundry, cleaning, and still sleepless nights from getting up with Kate every 2 hours – but we go for walks, we sit down to dinner as a family, Kate is living with us in her home and she is still here.

 

The moment I heard the news about Kate’s post-BMT complication in August.  I was in my car. Brian had asked me to pull over and he and the doctor talked to me together. On the phone I was calm, rationale, trying to pull the pieces together and find the way to push through. It is my natural state – find a way through for Kate. But when I hung up the phone and the news really hit me, I looked up. I looked up and I said, “I’m sorry!”.

“I’m sorry. I made the wrong choice. Please – PLEASE – don’t take her.”

“I’m sorry.”

I still feel that way. I may always feel that way. I am not sure we made the best decision for Kate. We have dug her into a incredible hole. But she is incredible and she may just have enough JOY and strength to climb out. She is that incredible.

Maybe in a year I will feel differently. Or feel profound relief and gratitude that she was not taken from me. That I got to keep her.

We are happy to be home. Joyful to be home.

 

Julie