Tag / SIFD

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

2016

Today is one of the hardest days since November 30th. On the precipice of 2016 and realizing Kate won’t be part of this coming year.

A good friend asked me if I would continue this blog. I imagine I will, but I am uncertain what it will look like and what I will write about. 2016 will be a year of change and finding a new balance in my life.

The past month has been full of sadness, pain, longing, regret, reflection, solitude, exhaustion…I think of Kate every moment of every day. I can feel her with me in everything that I do. Just as she and I lived our lives the past 8 years.

I am grateful for Jack. He is my anchor in all of the chaos of emotions right now. He needs his mom. That is a good thing for me. Yet another role for him that is too demanding – but he is wise beyond his years and he knows when I am sad and sidles up for a hug or to hold me (role reversal). Over the past 8 years, he has done so much, learned so much, and given up so much. And here he is – my little man – giving so much more of himself again while coping with the loss of his sister. Proud is not enough to describe how I feel about him. Awe maybe.

I am grateful to Brian. Stoic and kind. He gave me the gift of time with Kate after she passed. Respectfully allowing me alone to hold her and cuddle her and be with her over that night and into the next morning. He has let me grieve as I need to. Not questioning, not judging, nor hurrying me along.

Many of you wonder ‘how I am doing’. I am not doing well, but I am doing my best. I am moment to moment in my days. I don’t feel the need to explain why I can’t smile, or can’t find the energy to talk some days. I am grateful for the words of support from all of you. I am ok with this place of solitude combined with selfishness. I am doing what I need, when I need it. Nothing more. I am grateful to those who are holding vigil for me – who won’t let me be alone for too long.

The days are quiet and long. Kate took up so much physical, emotional, and intellectual presence every day. I hadn’t realized how much. I knew I was exhausted, but coming off of the constant lack of sleep, extreme vigilance, and adrenaline of caring for Kate has been physically and emotionally challenging.

Brian and I have a lot more time that we have ever had before. We’ve literally sat in the living room and stared at each other. We aren’t sure what words we should speak. What happened? Who are you? What do we do now? Someone should get up and do something, draw up a med, clean up vomit, change a diaper, do laundry, call/email a doctor…chase after Kate. I wonder how our relationship will be redefined over the coming months and years.

It feels like we are both waiting for her to come back – that we are simply having a little reprieve from the busy-ness of caring for Kate, like one of her Rogers House visit. We are are both waiting for her and to step into our caregiving roles again. We would both pick up that role again in heartbeat to be with her.  Then, like a heavy weight, the realization comes that she is not coming back. And the sadness hits again.

We have slowly emptied our house of medical supplies, medications and equipment. We’ve made gifts of treasured things to a few of her friends. Some things we still hold onto. Her room remains the same. Her favourite books, her puzzles, her Curious George stuffies and dolls, her clothes and sparkly shoes. I think that space will remain untouched for some time to come. It is a room I like to visit often – and sometimes I open the door in the morning just to say hello to Kate. I can see her there in her bed, hair tousled, face puffy from sleep, signing ‘Good Morning’. I can feel her presence in that room, and her ‘smell’ in her dresser drawers – and that is a good thing.

 

There are no words for the loss of a child. I’ve heard that said before by others. It is true. I was bold and confident in my belief that this would never happen to Kate. I believed in my heart that she would get through this. I believed she was different, that her strength and courage would pull her through. I believed if I was strong enough, determined enough and vigilant enough – I could pull her through. I was not naive in knowing this would be a very difficult thing for her, but I was shocked at her death. When she came home Saturday, November 28th, no one expected she would be dead 48 hours later. Not our strong and stoic Kate. I struggle with the worry that maybe more could have been done, and then remember the gift of getting her home, the shock of realizing she was dying, and supporting her in the last couple of days of her life.

Her death is a tragedy. It was not expected and it was not supposed to happen. I am still searching for the answers as to why.

She and I were a team. The last 8 years were an incredible roller coaster of love and determination. As much as I was her champion and supported her, she defined me, strengthened me, and helped me become the best version of myself. How do you lose and move on from a force like that in your life?

This is what 2016 will be for me. Learning how to move on, and if I can’t learn – then simply learning how to cope.

 

She was an incredible child. My own daughter.

8 years was not enough time with her. That is my biggest regret.

 

Julie

 

I invite you to watch Kate’s Celebration of Life Memorial from November 30th, 2015. 

 

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

 

by Julie

A Few Thoughts About Patience

I am tired of being told to be patient.

I’m pretty sure if I hear the word one more time, being directed at me in a syrupy semi-supportive/patronizing tone with a hint of caution from a person who knows little/nothing about me/Kate/or our story, I might just lose it on the next person I hear it from.

It’s been 5 months, and no one can seem to figure out how to get this GVHD under control. We’ve dealt with an 8 week BMT, a very poorly orchestrated discharge post-BMT, missed diagnosis, extremely stressful medical situations where we went unheard, mistakes were made, and Kate suffered as a result, and now the yo-yo back and forth two steps forward 5 steps back (and three steps sideways) of trying to control for a complication that wasn’t supposed to happen with no end in sight and a changing roster of people in charge of finding the solution to fixing it.

I am tired of being told to be patient. 

I do not feel patient and yet I wake every morning and focus on what needs to get done that day. What do we need to do to get Kate one step closer to home. What craft game story video iPad game sticker activity can we do that day together where I will need to dig deep to be engaged and patient within the four walls of our isolation room. What questions should I be asking? What plan can we make to get Kate better?

I am patient. I have been patient. I am patient because I have no other choice. And neither does Kate.

 

Being told to be patient and that ‘these things can take time’ is like telling a marathon runner that you have moved the finish line. Actually, not moved it, but hidden it and there is no MapQuest, or GPS, or map or even a damn sextant to find the finish line. (You even begin to wonder if the damn finish line even exists). Just keep running until you find it. Oh…and be patient. And that exhaustion and despair and frustration you feel? Just be patient. We have been so close to that finish line too many times.

Who ever coined the phrase ‘good things come to those who wait’ should be taken to an isolation room with an unwell child and locked in…and told to be patient.

pa·tience
/ˈpāSHəns/
noun
1.  the capacity to accept or tolerate delay, trouble, or suffering without getting angry or upset.

 

As of today , it has been 5 months. Kate is up and down. Feeling well for a few days and a glimmer of hope starts to grow that maybe, just maybe our patience has finally borne some fruit – only to be dashed again by the latest set back of loose/liquid green stool, nausea and fatigue. (You know that marathon finish line I mentioned? Think about having it in your sights…finally…only to have someone steal it away and move it again.)

We’ve been patient through the post-BMT phase with trialing 4 different immune suppressive drugs. Five attempts at steroid wean. Endless imaging and tests. Different doctors with different plans. Different nurses with different approaches. And not much has changed.

Kate has been patient.

Everyday is a test of patience amidst our exhaustion and fear and stress and hope for a good outcome.

Patience is wearing thin for both of us.

 

Julie