Posted by: searchingforsolidfooting | April 9, 2013

SIFD – A Novel Disease

nov·el

2 /ˈnɒvəl/ Show Spelled [nov-uhl] Show IPA

adjective

of a new kind; different from anything seen or known before: a novel disease
Different from anything seen or known before, that statement has been part of what has defined my daughter for most of her 5 1/2 years in this world. As I have written before in previous posts about our diagnostic odyssey to find a diagnosis for Kate’s rare and undiagnosed disease, she was always highly suspected of having mitochondrial disease. In November 2012 this was confirmed through genetic testing. We moved from the roller coaster of not knowing what Kate’s diagnosis was to being the only known case in the world. Now she is one of 11 known cases and though I have known the gene involved in this disease for sometime, we have not known much more about it. We have waited 16 long months for the first medical journal article describing this new disease to be published. On April 4th, 2013 SIFD officially entered the medical lexicon and family of known mitochondrial diseases. You can read the abstract here:
SIFD is an acronym for Sideroblastic Anemia, B Cell Immune Deficiency, Periodic Fevers and Developmental Delay. These are the main symptoms of Kate’s disease, the most homogenous, though there are many more conditions associated with it depending on the child affected. There is a spectrum of SIFD – more severe to less severe – Kate falls somewhere in the middle ground of this spectrum.
The medical description of SIFD and the diagnosis of 11 patients worldwide was the result of an incredible international collaboration. More than a year ago, recognition of a potentially new disease prompted the formation of an international collaborative group of physicians and scientists involved in treating and investigating these cases. Several medical and research facilities from the UK, USA, Canada, France, and Portugal were involved, including: Children’s Hospital of Eastern Ontario (CHEO), Boston Children’s, Royal Manchester Children’s Hospital, University Hospital of Wales, Universite Paris Diderot, Hopital de la Timgone Marseilles, Centro Hospitalar do Porto, and more.
Although the syndrome is considered rare, the “relative ease with which 11 cases have been identified” suggests many other children may be affected and undiagnosed. The diagnosis of this disorder requires intensive specialist investigations from several areas such as hematology and immunology. Similar to Kate, it will like present to many different specialists in many different ways. It will baffle most family doctors and pediatricians, and it will be the physician with a keen eye (and interest) who will suspect an underlying condition.  Awareness of SIFD and investigation into its underlying conditions is key to diagnosis for many children and their families, and this paper represents the first significant step in raising awareness. The authors have established a database and are excited about colleagues who may have similar cases contacting them.
The moment of hearing the news about the publication of the SIFD paper itself was ordinary and every day. We had an appointment with Kate’s hematologist and were discussing how Kate had been doing. He mentioned the research going on into her disease and that is was ‘good the article had been published’.  I looked at him quizzically – I didn’t know that the paper had been published and I had been waiting for it with much anticipation. Dr.K said it had been published the previous day in the medical journal Blood. He said I could read the abstract online. Of course I wanted more, I wanted to read the entire paper, and asked if he could make me a copy of the article. I wanted to read all about SIFD and absorb every bit of information I could. Let it sink it, then read some more so I could understand it further. I wanted to know this disease inside and out, to recognize it in a dark alley, to try to understand it better, and to figure out my plan of attack.
As I waited after our appointment in the hallway of the Medical Day Unit at CHEO, so many thoughts ran through my mind. This was a moment, it was huge in our lives, it was a NEW DISEASE, it was my child who was offering herself up to a worldwide medical community for scrutiny and investigation in order to not only help herself but others like her.  It was the end of an incredible journey and the start of something new and even more daunting – the hope – the glimmer of hope that we might find out something more about this disease. That someone somewhere would have the knowledge and expertise (and funding) to determine a treatment or a cure. That there would be other kids like Kate and that we would learn how this disease and impacted then and might know better what to expect with Kate. That we wouldn’t feel so in the dark about a disease that has had such an incredible impact on Kate’s life and ours.
Where were the fireworks? Where was the cake? The pageantry? The media outlets shouting high and low that  NEW DISEASE HAD BEEN DISCOVERED?
Dr.K came down the hallway a few moments later and handed me a 28 page double-sided document. I thanked him and made a casual comment about ‘where was the celebration about this new disease? this is very exciting’. He looked at me and said something like this, ‘having a new disease isn’t really a great thing’.
I understood what he meant – being rare is not a good position to be in – not that the discovery of SIFD isn’t exciting…still.
I stood there. My eyes welled up, not from his comment, but from the shear emotion and impact of the journey we had been on for more than 5 years, summed up into a 50+ page paper and a casual comment from one of Kate’s specialists.
I turned to a nurse who was standing in the hallway. A familiar MDU nurse who knew us casually. I showed her the title of the paper, “This is Kate’s disease. It’s a new disease. This is the first paper ever published about it. It’s very exciting”. She nodded and smiled and I could tell she had patients to get to. Really, what could she say?  So I put the paper in my shoulder bag and slowly walked out of the MDU, out of the hospital, across the parking lot and to my car. I shovelled Kate into her seat, trying to protect the paper from getting bent and torn and dirty. And as I got into the car, and sat there a moment – took a moment – the shock wore off and I started to cry. Big heaving sobs, huge tears, snotty nose – you know the full meltdown. It was over as quickly as it started, and I thought I would feel relief after a good cry, but it was only fatigue and a sense of feeling lost. I wanted to recognize this moment and I didn’t know how – I was losing my certainty that a NEW DISEASE was indeed a big moment. I felt sad that everyone seemed jaded about this moment, that it was just another day in science and medicine.
I’ve since shared the news with friends and family to mixed reaction. Those that get it really get it and are excited for us. Others see it as more news about Kate – good to news, but nothing to do cartwheels about Perhaps I have overloaded the airways with Kate’s ups and downs, progress and setbacks so that this moment seems equal in its importance to all others.
What I am slowly realizing is that the moment is mine. I have to celebrate myself and set off my own fireworks. It is special to me, and maybe to the other families of SIFD as well. I have to find the special way to celebrate and make this moment shine. I don’t need to convince others it is special. I need to see it in light of so many moments about Kate.
I will be re-reading the SIFD paper for many days and weeks to come. I’ll flood the social network airways with the news of #SIFD, hoping it is shared to the point of being important to someone else’s child and family.
I want to burn this moment into memory. And then wait for the next achievement.
Julie

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Posted by: searchingforsolidfooting | April 2, 2013

Girls Weekend

I have to admit that I was dreading it just a little bit. I was dreading being solo with Kate for 3 days, having no respite, not being able to hand over with her dad, or distract her with her brother or the busy-ness of family life. She had had a difficult couple of weeks with fatigue and irritability and I dreaded having to navigate 72 hours of just getting through the day. We have no family support nearby and so grandparent visits or walks to give us a ‘breather’ are just not accessible. I often joke about needing surrogate grandparents just to give us the much needed mini-breaks. This is not meant in offense to my parents – who, despite living far away, make efforts to visit often. But I watch other families with vast networks of family in the same city with absolute longing and wishful thinking – sometimes outright envy. They have ‘typical’ kids and get the regular breaks (ok, that’s jealousy there).  Thought bubbles start to populate my imagination…’maybe we should move closer to family’, ‘maybe our entire family will move here’, ‘maybe we’ll discover a long lost great aunt or uncle who will take a keen interest in Kate’.  Yeah, it’s not happening. So we do it solo and we try and get breaks where we can.

Despite dreading the long weekend, it actually turned out quite pleasant. My boys (the big one and small one) were off to a hockey tournament, and knowing this well in advance I made a plan for Kate and I. Really it was a list of activities both at home and as outings so that I had prepared ways to keep us occupied. More occupied, even if it was a drive in the car or a walk in the stroller, would mean less screaming/whining/irritability.

We did get off to a little of a rough start. Kate was having a poor day on Thursday. Poor energy and what I suspect was a big sugar drop during her auditory verbal therapy session that left her in a puddle of tears and anxiety and irritablity. Poor pet – a quick sugar fix pulled her back, but the day wasn’t the same.  Off to bed early and a movie for mom – no sense in stretching that day in any way.

The next 2 days of our girls weekend were lovely. Kate and I were both lucky that she was feeling well. She was ‘optimal Kate’ as I like to refer to it. Optimal Kate has good energy that lasts for most of the day, she is happy and calms easily, she is less irritable, she is communicative and makes better use of her ASL and verbal language skills, she doesn’t scream (maybe just squeals of happiness), she has good balance and can be relied upon to walk a bit more independantly without crashing and falling at any moment, or requiring the use of a stroller at all times (or being carried). And so the timing was perfect, I got optimal Kate all to myself and our girls weekend turned into a couple of days of really appreciating my little girl.

I find myself so mired in Kate’s care, management, coordination, advocacy – as well as raising my son and being a wife – moments to just enjoy Kate and to appreciate her don’t happen as often as I’d like. I don’t mean to say I don’t appreciate having Kate and that there are not day to day moments when we have fun and we bond and we play. But to have ‘mom and daughter’ time. To sing songs (over and over and over), to play dolls, to wander and walk with no timeline or particular destination, to have coffee and croissants (just the two of us) and to ‘chat’…yes, we did a lot of commjunicating about what she observed, who she saw, songs she wanted me to sing, pictures she wanted to look at, books I should read to her, how she loves to swim and jump…all at Kate’s level and Kate’s pace, but we did ‘chat’ – and it was lovely.

And so I kept her to myself quite a bit over those 2-3 days. I didn’t travel to the hockey tournament to see the final games (we won!) as suggested by my husband (likely worrying that Kate solo was getting tough based on previous experience), and I didn’t do much hanging with friends and their kids. I did things with Kate. I didn’t feel a need to escape or get away or a desperate sense of feeling fatigued and overwhelmed. Healthy Kate, ‘optimal kate’ is fun. I wish I had her more often.

I am going to plan more ‘girls weekends’ for Kate and I. Encourage my boys to get out and do their ‘boy things’. I hope we can recreate what was so special about this past weekend. Until then, I am going to work hard to hold onto really enjoying Kate, slowing the pace and sitting with her and really connecting with who she is and what she has to say in this world. She truly is a special little girl. Unique (obvious) and joyful – in spite of it all.

Slow down mommy and enjoy me.

I will KK my dolly. I will.

Kate and Julie

Kate and Julie

slow down mummy, there is no need to rush,
slow down mummy, what is all the fuss?
slow down mummy, make yourself a cup of tea.
slow down mummy, come spend some time with me.
 
slow down mummy, let’s pull boots on for a walk,
let’s kick at piles of leaves, and smile and laugh and talk.
slow down mummy, you look ever so tired,
come sit and snuggle under the duvet, and rest with me a while.
slow down mummy, those dirty dishes can wait,
slow down mummy, let’s have some fun – bake a cake!
slow down mummy, I know you work a lot,
but sometimes mummy, it’s nice when you just stop.
 
sit with me a minute,
and listen to my day,
spend a cherished moment,
because my childhood won’t stay!
~ R. Knight

 

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Posted in KK's MItochondrial Disease, Parenting a Special Needs Child | Tags: , , ,

Posted by: searchingforsolidfooting | March 28, 2013

Science – Genetics – Genome – Research

DNA

 

There are 4,000 known rare diseases in the world. Only 250 have known treatments or cures. How can science move faster to develop much-needed treatments and cures?

I may not have paid as much attention to this question and the possible answer 5 years ago. Now it is the question that sits in my mind and demands my attention day-to-day, moment to moment. Can we find a cure for Kate’s rare form of mitochondrial disease? What would it take to find a cure? Is there an orphan drug out there somewhere that would fix/correct the breakdown in the protein synthesis chain of the one gene in her body affecting her mitochondria from doing their job of creating energy so that she can live?

This recent TED TAlk from Dr.Francis Collins, Director of the National Institute of Health (NIH) gives some insight into how the human genome and recent advances in science may unlock the key to treatments for rare disease. What is needed now is the will.

Will = money, resources, engaged and motivated scientists, motivated pharmaceutical companies, flexible government policy.

http://www.ted.com/talks/francis_collins_we_need_better_drugs_now.html

 

In Canada, our recent federal budget just announced $150 million dollars in funding for projects in genomics and personalized health, a Genome Canada-Canadian Institutes of Health Research (CIHR) partnership.

Of particular interest to our family is that Dr.Kim Boycott, a CHEO neuro-geneticist, will lead the enhanced Care for Rare genetic diseases in Canada program. This program is a continuation of FORGE, the first comprehensive genetics research program to identify rare/novel disease in children across Canada. Kate was part of the FORGE program, and it is a credit to the research of Dr.Boycott and her colleagues, as well as our metabolics doctor (Dr.C) that Kate’s disease was finally identified.

Genetics, a few months of my Grade 12 science class and first year biology program at University. Who knew that the science of genes and their variations would play such an important role in our life.

 

Julie

 

 

 

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Posted by: searchingforsolidfooting | March 26, 2013

Coordinating of Complex Care

This blog post deserves a long and well written story. Unfortunately today is not the time for it. I don’t have the head space, nor the desire to sit at the keyboard (*gasp*), but I don’t want the opportunity to pass without sharing this recent news story on complex care coordination here in Ontario.

Coordination of Complex Care has many different titles and is supported in many different ways (or not at all) across the provinces and within Canada.  Comprehensive Care and Supported Care, are also titles used to describe the type of programs.

Coordination

These programs support children with complex and rare medical conditions. These children need support in the hospital to coordinate the large number of specialists involved in their care, coordinate their medically complex conditions, and also provide support in the community (nursing, community care access centre, therapies, OT, medical equipment). These are children with more than 5 different medical conditions, several specialists involved in their case, and technology dependant. They are children who are surviving challenging diseases and conditions identified in infancy and living longer thanks to advances in medicine.

When we hear ‘complex care’ or ‘care coordination’ we often think of the elderly population and the pediatric community is often forgotten or at best – overlooked. Although very small in number (less than 1% of children), children with medical complexity account for one-third of child health spending in Ontario (Dr.Eyal Cohen, Sick Kids)

These children are frequently hospitalized, and 25% experience readmission 30 days after discharge. They are high risk of medical error because of their medical complexity and gaps in care, communication and medical oversight.

Parents are left to step into the formidable role being left to them by the health care system. Overnight, parents of medically fragile, medically complex children become nurses, therapists, medical coordinators, and care coordinators. More than half of these families have a parent stay home and leave their career in order to care for their child. Financial problems, marital stress, sibling issues, poor health, and physical and mental stress overwhelm these families.

So the question is, What can be done?

I remember when we were having our most difficult moments with Kate’s health – and we had no one coordinating her care. We were crying out to anyone who would listen about the need for someone to be “in charge” of Kate’s case. Who could we turn to when things were not going well with Kate on a number of fronts? Her family doctor was simply over his head and had no idea how or where to get the ball rolling to help Kate.  Because of the siloed structure of our health care system, our pediatrician did not have access to Kate while she was in hospital, nor could he directly advocate for her with her myriad of specialists. There was a need to create a coordinated interdisciplinary team approach for Kate – and no mechanism for which to do it.

We were fortunate to be ‘in the right place at the right time’ as CHEO was just piloting their Coordination of Complex Care Program in March 2010. Kate was the first child admitted to the program. She continues to be part of the program 3 years on.

Here is part of that story:

http://www.capitalnews.ca/index.php/multimedia/#/kates-shadow.

 

Julie

 

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Posted by: searchingforsolidfooting | March 18, 2013

Lean In

Lean In - I saw this book title in Chapters yesterday. Unfortunately I didn’t have time to have a quick peek, but I have heard about this book in the media. In a nutshell it is a sort of a non-feminist manifesto about women taking charge of their careers and ‘leaning in’ to pursue their goals despite setback and/or ‘mental obstacles’. Having not read the book, I’m pretty ill equipped at commenting on it. At first glance and upon reading a few reviews, I’m not sure I’ll even give it a read. I’m not sure I am the right audience for it. Since Kate has been sick I have not been at work. My career has been effectively sidelined for a more important reason (although one that doesn’t pay as well financially). No amount of ‘surmounting the mental obstacles’ is going to get me back in the workforce at the pace I was going. And believe me, I’ve tried. So why even mention it?  What inspired this post is simply the title of the book, “Lean In”. That statement hasn’t left me for the past few days. Lean In. It’s a synonym for ‘one foot in front of the other’ or ‘just keep swimming’; two other powerful motivating metaphors for me.

Just keep moving forward.

So I’ve been reflecting on why ‘moving forward’ is such an important mantra for me. How does it serve to motivate me? As I look around me, I have set myself up in life to ‘move forward’ to continue to push through. When things get tough, I put my head down and I push through. I don’t look for a way out anymore. Is this a characteristic of the ‘special needs parent’? Has it developed or have I always had it – and it’s simply been challenged and honed even more?

I don’t often look at the awesomeness or the enormity of major challenges in their entirety anymore. If I did, I would feel daunted and worse, desperate. I would be overwhelmed and likely suffer a lot of anxiety. That is not to say I am not aware of the complexity of the challenge or how long it might take to get through, my former ‘policy wonk’ hat won’t let me forget to be aware of the ‘big picture’, but I don’t focus my attention there for long. And when we are in crisis, look out. I have the game face on and I power through. But that surge of adrenaline and focus is finite – and our experiences over the past 5 years have drained my ability to recover from those focussed efforts of intensity and coping with acute challenges.

Caring for a medically complex and special needs child is such a challenge. The enormity, complexity and unexpected obstacles of each day can be overwhelming. If I look at the bigger picture and consider all the things that have such an impact on Kate; her disease, her multiple medical conditions, her regular acute episodes, lack of treatment, no cure, progressive disease, uncertain future, whether she will live to be an adult, what her future holds…and more. The enormity makes me want to curl into a ball and hide in a corner rocking myself. It is overwhelming. It makes me never want to come out of my room. It makes me want to scream.

So I try not to face that enormity. I try to Lean In to the day and tackle what comes my way. Will it be a screaming day? Will she have good energy and we’ll be able to manage the small list of tasks I need to get done that day – or will she be so unwell she can’t go to school? Will there be good communicaiton or none? Will she have a seizure and school will call for me to pick her up? Will she need to go to the hospital that night or early the next morning? Will I be there for 3-5 days? Will the new medication work? Will I hear from the specialists about the bloodwork we are waiting for?

Yes, the questions are endless the enormity is huge. So I Lean In and I push through each moment and I get done what I can get done, one foot in front of the other, I just keep swimming.

And when it all goes off the rails, Kate and I sit and rock. And the best I can, I let it be and let the plans for the day slip away. Because that is all I can do.

There is a lot to be taking from Lean In. It is analogous to not giving up when faced when adversity. It is as simple as that. It’s really not a special recipe. I think I have always had that. My life with Kate has taught me to have that in spades.

 

Julie

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Posted by: searchingforsolidfooting | March 1, 2013

‘Celebrating’ Rare Disease Day

Written yesterday, February 28th Rare Disease Day

(from my iPad)

The irony of today’s events is not lost on me. Today is Rare Disease Day, and I was to travel to Toronto to be part of a symposium to discuss frameworks for complex care to support medically fragile and complex children. Instead, in true testament to the nature of Kate’s rare mitochondrial disease, I am at our children’s hospital with Kate waiting for a bed as she has been admitted because of an inflammatory cascades episodes.

Kate is diagnosed with a novel form of mitochondrial disease. The first person in the world diagnosed, and now thanks to international efforts of research and science, she is one of 10 known cases – and 1 of 4 children alive today with this yet to be named disease. Global expertise and science continue to collaborate to better understand this disease and to try to find a treatment or cure.

Kate’s disease is unpredictable and chronic. Both mean that life is never easy for Kate or for our family. We all live in the constant shadow of her disease, ready to react on a moments notice, ready to change the plans of that day as an entirely new one might be needed.

Rare Disease Day went unnoticed for the most part. There was no big celebration here in Canada. CORD (The Canadian Organization for Rare Disease) hosted a conference, but their media relations are poor and the I credible research and science and importance of rare disease awareness buildng went unnoticed by the media. In our way, Kate and I tried to raise awareness. I took to social media, and Kate…well Kate got sick and in doing so we educated a whole new group of doctors, nurses and technicians on her rare form of mitochondrial disease.

Kate is still in hospital, feeling crummy and still not stable enough to go home. In another wing of this same hospital and overseas and in the US, there are incredible scientists and doctoers trying to better understand Kate’s disease and to develop a cure. Though we have yet to meet most of them – and hope someday we will – we want to thank them for the work they do, for trying to save my daughters life. On this day that is dedicated to them and their patients I want to honour them.

Rare Disease Day 2013 – Rare Without Borders

Julie

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Posted in KK's MItochondrial Disease

Posted by: searchingforsolidfooting | February 26, 2013

In Honour of Rare Disease Day

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Since starting this blog, and over the past few months, I have been telling you Kate’s story – her medical journey as a ‘typical’ newborn, to an unwell infant, to a severely chronically unwell toddler and preschooler who has undergone intensive and extensive medical investigation and inquiry. I’ve shared with you some of the details of the first 2 years of Kate’s life. The unbelievable stress, worry and outright and absolute fear that Kate would succumb to her disease or suffer even more irreparable harm. It drove us. It drove me. I became Kate’s most intense medical advocate and researcher. I was determined to find out what was ‘wrong’ with my child.

After our visit to the Mayo Clinic, it became very clear to me that what Kate was suffering from would not be easy to solve. I had been told before by more than one of her specialists that it was quite likely we would “never have a diagnosis for Kate”. This opinion was presented to me as almost normal – just a run of the mill medical opinion. In my mind, I rejected it outright. I would find out what was causing my child to be so unwell and to suffer so much. I would find out what was wrong and I would help her. I would find out what was hurting her and I would find a way to treat it – at the least, or cure it – at the best. I would do that for her, and I was going to find the right people to help me.

Since our first days of intensive medical investigation with Kate, we have accumulated a spectacular team of no less than 7 different medical centers: CHEO, Sick Kids, the Mayo Clinic and the NIH Rare and Undiagnosed Disease Program, Texas Baylor University, and research facilities at McMaster Health Sciences Centre, Boston Medical Centre, and more, and we have more than 30 different medical specialists for her. While she is monitored regularly by all of them, she is monitored very closely by a few – and I count these closest physicians to Kate as some of my strongest allies. I have developed strong relationships with them. I have learned how to speak their language, and how to adjust for their different communication/medical delivery styles. I feel like we are part of an integral team, moving in one direction to solve an incredibly daunting question. What is making Kate so sick?

Over the first four years of Kate’s life she was investigated for more than 20 different known conditions. Twenty.

 

Some Facts About Rare Diseases:

  • 1 million Canadians suffer from a rare disease – this is 1 in 12.
  • 80% (500,000) are children
  • There are approximately 7,000 rare diseases.  About 50% of those are unknown.
  • There is diagnostic testing for only 150 rare diseases.
  • 25% of rare diseases take between 5 to 30 years to diagnose accurately.
  • 40% of rare disease sufferers have a wrong diagnosis
  • 50-70% never receive a diagnosis
  • The average cost of the ‘diagnostic odyssey’ for most rare diseases is $23,000 (Kate’s diagnostic odyssey was upwards of $100,000)

 

This past June, as part of my ongoing medical file on Kate, I created a ‘disease consideration pathway’ as I call it to help describe the testing that Kate had undergone over the course of her medical odyssey. These were the tests and conditions that I had made note of and could recall. I know there were more (less plausible in the end), and with every test, I hoped,  I truly secretly hoped that this would be it, this would be the disease and we could move forward toward treatment and a cure. Even after googling some of these conditions and understanding what ‘having’ them would mean for Kate, I still just wanted to know.

Kate’s tests involved many rare diseases that had ‘known’ genes. Therefore we could genetically test her for them. The tests for each of these conditions involved single gene testing and took weeks/months to complete and receive the answer back.

In the fall of 2010, when Kate was three, we agreed to a genetic research project that was going to do ‘genetic mapping’ and sequence all of Kate’s genes. A MitoCarta, or mitochondrial map had been developed, and it was theorized that the genetics team would map any genetic variants that might impact on the functioning of the mitochondrion or mitochondrial process. Unbeknownst to us, the project fell through.

In the spring of 2011, we signed on to a second project that would again identify genes for inherited disorders and congenital anomalies. The principal investigator was a neuro-geneticist from CHEO and the University of Ottawa who would be conducting genetic exome sequencing. Using a process called Next Generation Sequencing, she would be able to examine all 22,000 coding genes in a short time period (2 weeks), for a fraction of the cost required to test one gene at a time.

As I read through the consent form for this study we had agreed to be a part of, I remember how I felt when we signed the form. It was yet more paper to sign. It was yet another study to try to find out what was happening to Kate. I wouldn’t say I had lost hope, but I felt a certain amount of apathy at yet another test that would quite likely bring us no concrete information. But this time it would be different. Kate had become part of the FORGE study.

FORGE (Finding of Rare Disease Genes in Canada) was an incredible consortium style research project that created an extensive network of physicians and research scientists across Canada who would have access to next-generation sequencing in order to identify rare genetic diseases for many undiagnosed Canadians.

For several months I had put this genetic testing out of mind. We carried on caring for Kate, dealing with her multiple conditions, regular hospital visits, and hospital admissions. But then, in the early fall of September 2011 we received a phone call from our metabolics doctor. They had found something ‘provocative’ and wanted to further investigate. Details were not discussed with us, but we were asked to come in for bloodwork – all of us. And then we waited again.

Several weeks later, on November 13th 2011, we met with Kate’s metabolic doctor. He started to explain the type of testing that had been done and what they had found. They had identified Kate’s disease.

For me, there was a brief flash – a moment of euphoria - they had found it and now they could help her. And the moment passed quickly and our world – Kate’s world changed forever. This was a “novel” disease – a new and rare condition – so rare that Kate was the only known case in the world.

N=1

The specific genetic anomaly for Kate was an exact match to a recessive anomaly that both Brian had on the same gene. Being recessive, we did not ‘have’ the disease and have no symptoms, but our children would have a 1 in 4 chance of inheriting this recessive genetic disease. The extreme rarity of this occurrence could barely be quantified. Kate was literally 1 in 7 billion.

It wasn’t comparable to anything. It wasn’t understandable.

We left that meeting in a state of shock. I’m not sure I heard much else after hearing that Kate had an unknown/novel disease that no one else in the world had. I felt numb.

We went from the isolation of having a medically fragile and medically complex child with an undiagnosed disease, to having a child diagnosed with a disease so rare she was the only one in the world (that we knew of) suffering from it.

Where did we go next? What was the next step? Both of those questions were front and center for me, but I can’t remember asking them at that time.

 

As I read back on the consent form for the FORGE study, the following excerpt on page 3 grabs my attention:

Are There Any Possible Benefits?

“You may or may not benefit from participating in this study, however we hope that the information gained for this study will help doctors treat patients in the future”.

 

 

Julie

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Posted in Kate's Story, KK's MItochondrial Disease, Mitochondrial Disease | Tags: , , , , , , ,

Posted by: searchingforsolidfooting | February 13, 2013

Inspired by The Road

My friend Julie (Keon) at What I Would Tell You, writes with such imagery. It might be because her most recent posts seem to come to her in the wee hours of the morning – like dreams.

This Road, was posted this morning and really resonated with me. Full of imagery about the road less travelled. It reminded me of another post called Welcome to Holland that I read a couple of years ago and helped me to recognize - and maybe put into so many words – the journey we had been thrust into with Kate. Both poetic descriptions capture the journey of the special needs child. Where Julie’s differs is in adding that component of medically fragility, medical complexity and not knowing how long that road with your child will last, where the bumps might be, or when your ‘vehicle’ might break down.

 

As I read Julie’s post, my own thoughts expanded on the story:

I pictured cars humming along on the highway with little to no cares. These are well maitained, efficient, reliable vehicles – even high performing ones.  I picture people – not myself ever – care free, oblivious to what could have been or what could be. They are strapped in safely and out for a ride where they know the destination, the route and how long it should take.  (I find it interesting that I can’t picture myself this way. I wonder if I ever could have – and thinking about it a moment, I think I could and did. I haven’t felt that way for some time – in control.  I know now that I can never go back. Carefree, innocence, naiveté are no longer mine to enjoy).

Then, I picutre less reliable cars on bumpier roads (like Julie described- potholes, gravel, maybe narrow and winding – some steep climbs). These were the cars that were older, maybe not as well maintained – or requiring more maintenance. I had my grandfathers car in my mid-20s. Second hand following an accident with a dump trunk. Hole in the floor. Crack in the motor. This care would die on the highway with no notice. I once coasted to an off ramp when I lost all power. I feel stressed, frustrated, a bit angry at the damn car (arrrggghh!)

Then I picture dusty, abandoned, forlorn roads with not a traveler in site. The car is a broken down ‘clunker’ and you worry that at any moment it will break down – and then you wonder how you will ever get to your destination. The visual that comes to mind is the desert, and long abandoned roads. What I am doing in the desert, or how I got there, I can’t tell you. But I am there and I have no idea where I am going, where the next gas station is, or how far my car will get me. I feel a sensation of anxiety, fear, desperation.

Then I picture a band of weary travellers – backpacks on their backs – limping along – but still managing to help one another. Thirsty, tired, downright weary – and still putting one foot in front of the other. Forget the car, this is a bedraggled post-apocolyptic group, who are simply in survival mode. As the image comes to mind for me – I recognize this place. I have been here, more than once. Trying to survive, trying to get through each moment, worried about what the day would bring. I feel bone weary but strangely strong. I can put one foot in front of the other. I am too tired to worry, my energy has to be focussed on moving forward and enduring. I am concious of those around me – and they feel me as well – but we cannot string together a word to speak to one another. Our simple presence at each others side has to be enough.

 

Please visit Julie’s blog at What I Would Tell You. She’s a powerful mom, and writer.

 

Julie       (the other Julie)

 

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Posted in Parenting a Special Needs Child | Tags: , , , , , ,

Posted by: searchingforsolidfooting | February 10, 2013

A Little Pot of Yeast

Last week I had an opportunity to visit the Research Institute of the Children’s Hospital of Eastern Ontario (CHEO) to meet the team who have been working on Kate’s rare recessive genetic disease. This was a highly anticipated day as the research into Kate’s disease has gone on ‘behind the scenes’, but is so important to us as a family. What was extra special to the dedicated team of scientists working on Kate’s disease, was the opportunity for them to meet her. These are not ‘frontline’ doctors. They don’t work in the ER, in the clinics, or on the in-patient floors interacting with families and getting to meet the children whose lives they impact so incredibly. For them, meeting Kate was a pretty great moment.

 

The amazing researchers working on Kate's genetic anamoly. Searching for a cure. We love these scientists!

The amazing researchers working on Kate’s genetic anomaly. Searching for a cure. We love these scientists!

 

As I’ve described before in previous posts, Kate was the first person in the world diagnosed with a rare recessive genetic mitochondrial disease. The disease has caused a mutation of one gene responsible for mitochondrion functioning. We’ve been asked not to share the name of the gene as the first ever research and clinical description for this newly discovered disease is still pending medical journal publication. (Man, I can’t wait to share that with all of you!)

Through collaborative research with researchers in the United Kingdom and Boston, USA, there are now 10 known cases of this disease worldwide over the last 20 years of available data. This is a childhood disease, that is progressive and life limiting. Kate is 1 of 4 children alive today with this disease.

There is currently no known treatment or cure for Kate’s disease, which means her physicians are only able to practise cautious monitoring of her condition and management of her chronic and acute symptoms.

BUT….

CHEO is working hard to change this for Kate by conducting incredible research and collaborating with the international team of doctors and research scientists working on this disease. They are trying to find the cause of the protein deficiency which leads to reduced mitochondrion functioning in Kate. They want to cure her disease.

They are using yeast as the ‘vehicle’ in which to implant Kate’s one gene mutation. Yeast is interesting as it can grow with either both strands of DNA, or only one (we as humans – and most living beings – need both sets in order to grow). So Kate’s research team can isolate the one gene and study its mutation more directly.

My little girl. A little pot of yeast.

My little girl. A little pot of yeast.

When they have that figured out, they’ll move on to her skin cells and examine the one genetic mutation and how it interacts with all of the genes in Kate’s DNA. It is super-scientific stuff, and I am really not doing it justice in describing it to you. I’m also be cautious about sharing too much (cat out of the bag and all that….).  Really incredible. And it will change the lives of many more people than Kate as they are establishing a bio-repository of the knowledge they are gaining by researching Kate’s rare disease.

 

A repository of yeast being built by examining Kate's disease.

A repository of yeast being built by examining Kate’s disease.

To look at your child’s disease from under a fume hood, being grown in a petri dish is pretty incredible. It was a moment.

This month I am practising being thankful. I am thankful for Dr.H and his team at the CHEO RIT for all of their incredible work.

 

And a shout out to #whatifhc

What if laboratory researchers and scientists had the opportunity to meet the families and patients whose lives they are saving?

 

Julie

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Posted in KK's MItochondrial Disease, Mitochondrial Disease | Tags: , , , , ,

Posted by: searchingforsolidfooting | February 1, 2013

The Effectiveness of Hallway Conversations

My world with Kate is both small and huge at the same time. Kate doesn’t have many friends, she doesn’t go on regular ‘playdates’ or off to activities on her own – instead she goes to school where she mainly works one on one with adults, she has therapy with myself and adults, she has a respite worker, and she visits the hospital to be poked, prodded, examined, and intervened with. She spends a lot of her life waiting, being touched by others, being pushed in therapy, and waiting while I have dicussions about her with all of these people.

Because of Kate my world is complex and requires quick thinking, advocacy, patience, ability to communicate in many ‘languages’ (medical, therapeutic, educational etc.) – even to learn a new language (American Sign Language).

I take advantage of every opportunity to engage with the adults in her life be they medical case conferences about her, clinic appointments with one of her 15 different specialists, phone conversations with consulting medical specialists from around the world, scheduled therapy sessions, scheduled educational meetings (with teachers, EAs, LSTs, principal, Board representatives, placement and review committees), discussions about community therapeutic care, or even conversations with our local community centre to place her in a basic preschool swim program. Nothing in Kate’s life follows typical procedures or processes. Nothing is easy.

But sometimes what I find most advantageous are the unanticipated and unplanned ‘hallway meetings’.

Yesterday, I had to walk the length of CHEO from Kate’s afternoon auditory verbal therapy session to another wing of the hospital to sign paperwork from metabolics/genetics, and then head to the cafeteria for a casual meeting with CHEO public relations (more on the purpose of that meeting next week). In the course of that short walk, I met Dr.P (Kate’s metabolic/genetics physician) and we had a brief chat about Kate, how she is doing, recent symptoms, our planned meeting next week – then I ran into one of Kate’s formal social workers at CHEO from the neurology department (we are now with palliative care social work at Rogers House), we talked about Kate, how much she has grown, her diagnosis, how she’s feeling etc.  Finally, I reached my first destination and signed the required paperwork, and went to the cafeteria for my meeting. As we sat down, Linda the cafeteria lady came over to say hello – Linda is a kitchen worker at CHEO who has a Deaf daughter and she knows ASL. She has struck up a little friendship with Kate and always comes over to say hello, asks how Kate is doing etc. I finished my meeting and made a quick errand up to the clinic area of  CHEO where I ran into 2 of my favorite phlebotomists – these ladies can get blood like nobody’s business – they asked how Kate was doing and asked if they would be seeing her soon. When I arrived at my clinic destination, I ran into Dr.Major, Kate’s complex care pediatrician who we are overdue to have a clinic appointment with. She asked how Kate was doing, recent symptoms, how did our TO visit go, asked me to follow up about scheduling a clinic visit with her etc.

Without going on…I think you get the picture. Hallway conversations as spontaneous as they are, can be very effective.

- I got to touch base with Kate’s metabolic/genetic doctor about how Kate was doing (he hadn’t seen her in several months). We discussed the current research going into Kate’s disease. We touched base about a meeting he would be having about Kate with her doctors at Sick Kids. And we planned to have a clinic visit.

- I got to touch base with Kate’s complex care physician at CHEO, briefly mention some concerns about Kate and planned to make an appointment as soon as possible with her.

Effective and efficient.

Today, I had a very similar experience at Kate’s school. As they are getting used to Kate, and we are getting used to them getting used to Kate, there have a been a few hiccups along the way. The latest hiccup has caused a lot of stress in this house for the past 72 hours. I didn’t have time to meet today, but I let the principal know as I entered the school that I would like to meet. I walked Kate to class and ran into the principal in the hallway – and there we had an unplanned ‘hallway meeting’, and I think we got much more done than any other scheduled meeting I have had at Kate’s school. We were efficient (because it was unplanned and we both had places to be), it was effective (a credit to both of us), and because it was impromptu (not to say I hadn’t been giving things a lot of thought) the filters were off and I feel like we were very upfront with one another. We agreed to follow up ‘in clinic’ (i.e. her office with the other educational professionals involved with Kate).

I left feeling better. A hallway conversation can do that.

 

Julie

 

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Posted in Parenting a Special Needs Child | Tags: , , ,

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