How Did This Happen?

There has been a story out there in the news media for close to a year now about a young girl who was seized by the state children’s protective services in Massachusetts after a medical disagreement between parents, doctors, and two different hospitals. The Justina Pelletier story.

As with any story that has been filtered, and the details are not all there – citing privacy and confidentiality issues. But the details that are available tell a chilling story about abuse of power. A child with a condition that is not well-known or understood, a disease that has no standard treatment plan or cure, and a lack of consultation with her treating physicians, can be taken from her parents, taken off all of her current medications and treatments, and kept in the psychiatric unit of a hospital with little to no visitation with her family or friends, and the parents accused of medical child abuse.

Horrifying. Terrifying.

 

My visceral reaction is disgust at the doctors and staff who did this to this young girl and her family. I am astounded that there will be no repercussions to any of them for the trauma they have caused this young girl and her family. But my instinct kicks in, and despite the questions I have about what these doctors were thinking, and how could they do this, I start to think of our own situation.

Rare. Unknown. No standard treatment. Many specialists involved. Many medical institutions involved.

I wonder if this could have happened to our family when we were searching for a confirmed diagnosis for Kate.

Could this happen to other children who are rare, without a confirmed diagnosis, medically complex, medically fragile, or perhaps to parents who are not savvy about how to ‘behave’ within the system.

I am a strong advocate for Kate. I feel that I am part of her medical care team and have an equal voice at the decision-making table. I voice my opinion. I appreciate the doctors opinions, but I also take into account my own knowledge and expertise as the expert on Kate. That is patient engagement and patient and family centred care right? Am I naive about the rights that I have to make decisions as her parent?

What makes the Justina Pelletier case hit home for me is that Justina has mitochondrial disease. A disease that few know about, where little research is done, where donation dollars and support don’t flow, where the medical community is still learning, and where there are few experts.

How does something like this happen?

How could the system change so it doesn’t happen again?

 

Julie

Mitochondrial Disease Awareness Week September 15-21, 2013

Mito week

MItochondrial Disease Awareness Week is September 15-21, 2013.

It’s a time for mito to be recognized, to raise awareness, and often a time for many fundraising events for mito to be held as well.

Mito is suspected to affect 1 in 6000 people. Mitochondrial diseases are difficult to diagnose and there is no treatments or cure.

I’ll be messaging (on FB), tweeting @solidfooting and blogging (here) about mitochondrial disease this week. I’ll also be changing my porch light bulbs to green ones – LIght Your Porch Green – in honour of those living with mito and those that have left us. I invite you to do the same.

Here is Kate’s mitochondrial disease story as told on her Caring Bridge site:

At 4-6 months of age, I started to notice that Kate’s motor development was behind and that she did not seem to be paying attention to sound or making normal baby babbling noises. She was not reaching typical developmental milestones for her age and was still very floppy, as a newborn would be. Kate was also experiencing other health issues such as chronic anemia and episodes of unexplained illness and fever. I also noticed that she did not appear to be responding to my voice or to sounds from her baby toys. The first few years of Kate’s life she cried all the time and she barely slept. My days were spent holding her and trying to console her the best I could.  Our GP did not seem to have any answers for us, and was at a loss of what to do.  Several trips to the emergency department only resulted in long waits and being sent home with little information, or investigation, and no change in Kate’s status.

When Kate was 9 months old, at the urging of a pediatrician friend, we engaged a consultant pediatrician to help us begin a broader investigation into Kate’s health.

In November (2008), Kate was hospitalized at CHEO for ‘irritability’, fever, and cyclic vomiting. This was the fourth time Kate experienced the symptoms which we have come to call her ‘episodes’ . It was during this hospitalization that an intensive examination of Kate began diagnostically.
The ‘episodes’ began in June 2008 and have increased in frequency and intensity.  The pattern is typically the same;  vomiting, intermittent fever, she stops drinking and eating, discomfort/pain, irritability, extreme lethargy lasting 7+ days. She has very little strength or energy and is unable to perform the skills that she usually does, like walking, talking, eating, It takes Kate 1-2 weeks to ‘normalize’ after a typical episode. The acuteness of these episodes began the investigation and diagnostic odyssey into Kate that lasted over four years. Kate has been hospitalized countless times and has undergone many invasive tests – MRI, CT, bloodwork, urine, lumbar puncture, gastric tests, ultrasound, x-ray, muscle biopsies, bone marrow aspirate. She has become a human pin cushion.

On November 7th, 2011, Kate was diagnosed with a rare form of mitochondrial disease called SIFD. Sideroblastic Anemia, Inflammation, Periodic Fever and Developmental Delay. This is a recessive genetic disorder that has no treatment or cure. To date there are only 15 known cases, 4 of these children (including Kate) are alive today.

At 13 months, Kate was diagnosed with permanent sensorineural hearing loss caused by her mitochondrial disease. In February 2010, after symptoms of additional hearing loss, it was determined that Kate’s hearing loss has progressed and is now severe to profound in both ears.  After very careful consideration due to complications from anesthetic, Kate received bilateral cochlear implants at the Hospital for Sick Children in Toronto in November 2010.  The implants were activated at CHEO on December 13, 2010. She is undergoing intense therapy to teach her to listen and speak.

Since 9 months of age, Kate has had more than 30 ‘episodes’ requiring multiple hospitalizations.  Kate has been seen by doctors at The Children’s Hospital of Eastern Ontario (CHEO), Sick Kids in Toronto, McMaster Health Sciences Centre, and The Mayo Clinic in the US.  Her blood and tissue have been studied at research institutions around the world. We have experienced what the medical literature calls a ‘medical odyssey’. Kate is also responsible for the diagnosis of several other children, bringing closure to other families who were searching for a diagnosis.

Kate is now part of the Coordination of Complex Care pilot program at CHEO to help coordinate her care and better manage her episodes.  She is also a palliative care patient at Rogers House.

Kate’s medical condition includes: – Global developmental delay – delayed myelination on MRI – Sensorineural hearing loss (profound) – Cyclical vomiting + and hemodynamic instability with episodes of unexplained fever, illness and pain – Sideroblastic anemia – Nephrocalcinosis and hypercalciurea  – Chronic constipation – Immunodeficiency (Hypogammaglobulinemia) – Post-anesthesia complications – Spinal syringomyelia (syrinx) – Osteopenia – Pili Torti – Ataxia – Weakness and Fatigue

When Kate is feeling well she walks independently, she loves to ‘swim’ and go to her gymnastics class. She loves to go on bike rides, riding behind mom in a trailer. She is communicating with gestures, sign language, and a few words.  She attends kindergarten at our local school thanks to the support a one on one educational assistant, and resources that allow her regular rest periods.

Many of Kate’s days are compromised by severe fatigue. We manage Kate’s energy by limiting her exertion and conserving the energy she does have. Kate cannot walk long distances and she uses a stroller to get around (soon to be a wheelchair). She wears and AFO brace to steady her right leg, and on days when her ataxia is particularly bad, she will wear a helmet to protect her.

Kate also has wonderful periods of feeling ‘well’, where her disease seems to be less aggressive and where her physical abilities and energy seem more typical. These are wonderful days, and we are excited when they stretch into weeks or months.

It is sometimes exhausting to relay Kate’s story as it is complex and ever-evolving.  We are keeping family and friends updated on her health and diagnostic situation via our journal entries on this site.

Thank you for visiting and for your well wishes, support for our family, and positive thoughts and prayers for Kate. She is a beautiful, loving, intelligent and stoic little girl, and deserves the best this world has to offer.

Julie, Brian, Jack and Kate

N=1

beach solitary

 

Walking alone – trailing my feet through the sand – feeling the sun on my back – letting the ocean lull me, calm me.

Alone with my thoughts – pensive. Taking a moment in time – this unexpected, unplanned, unanticipated, unwanted time – to breathe, consider, exhale.

Enjoying the solitude, and then realizing. I am alone.

JD 2009

 

As you may know from reading this blog, Kate has a rare form of mitochondrial disease called SIFD, which stands for sideroblastic anemia, immune deficiency, fever, and developmental delay. At the time of diagnosis, after an incredible diagnostic odyssey, Kate was N=1. Within several months of sharing the information about the recessive genetic disorder that causes this disease, 14 more cases were found, spanning the last 20 years. Only 4 of those children are alive, including Kate and none are in Canada.

Although mitochondrial disease is the broader diagnosis for Kate. Being diagnosed with a mitochondrial disease is similar to being diagnosed with ‘a type of cancer’. There are many different types of the disease under this very broad disease definition. Finding out who you are and what your mito is within that broad description is something only few mito families ever achieve.

When you are a parent, whether of a disabled child, a child with an acute illness, or a typical child, you seek out community. You naturally gravitate toward the park, playgroups, coffee shop seeking the moms like you – getting little sleep, carrying a baby, worrying about typical baby and toddler issues. Parents of children with medical conditions need this community even more, and support groups and very strong advocacy groups have started out of necessity to get important services in place, but also as a means for families to connect, share their stories, support one another in navigating the health care system, and support one another in navigating and understanding their child’s disease. It is group think. It is parallel thinking rather than going it on your own, and it is important to families survival and ability to get through the ‘dark’ times they will inevitably have.

I remember the early days with Kate, the first 2-3 years of feeling absolutely isolated. Struggling with her health issues, navigating the beast of our medical system – mainly alone, trying to stay on top of her ever evolving medical conditions in the absence of a unifying diagnosis. I wanted and needed a community to connect with. I wanted to share with another mom the struggles I was going through, to get advice, to learn from what they had learned, and to have a shoulder to lean on if it was there. Within the first 18 months and into her second year we had a social worker assigned to us, but it was clear her role was mainly to assist with funding related questions and less about supporting us.  The isolation I felt was difficult for me. I am not an introverted person, I still hung around with my mom friends in the school yard, and would share what was happening with Kate, but none of them could relate. They were sympathetic and offered words of support, but they were not living it, and could not understand what I was going through. (To be honest, I wasn’t even sure what I was going through).

 

What I really wanted was another mom (or dad) whose child had the same disease as mine and not knowing what disease my child had, I felt that would never happen for us.

 

When Kate was finally diagnosed with SIFD, I was excited. We had crossed a threshold and there was now possibility of better understanding how to treat her acute episodes, research could get started to look for treatments, a cure might even be possible at some point since the gene that causes SIFD had been identified. I was looking forward to connecting with other families, hearing their stories, reaching out, and sharing information about how their child’s disease was managed. For many reasons, this did not happen. None of these children were in Canada, the one other child who was died within a short time of being diagnosed. Some of the families did not want to connect, and physicians weren’t always great at facilitating families getting in contact. This all changed for me in April 2013 when I received a phone call from a Canadian doctor. He had a child he had been treating, who has SIFD, and he wanted to speak to us.

I was stunned, and excited, and hopeful. This was the first time a doctor had reached out to us personally, and not through our medical team. He explained to us that this child had suffered undiagnosed for over a year, the child had been sent to the NIH (National Institute of Health Rare Disease Program in the US) for further investigation. At the very end of the visit, just before returning home, a doctor who was aware of Kate’s case saw similarities and considered the same diagnosis for this child. After genetic testing, it was confirmed that this child also had SIFD.

What then transpired was what I had been searching for, a family to connect with. The family wanted to connect with us, they wanted to share stories. We emailed several times and had one long phone conversation, sharing our experiences about our children, remarking on similarities and noting differences. Their child’s disease was more severe than Kate’s and as a result different interventions were being tried. Our medical team learned from those experiences and as a result Kate’s acute treatments changed. I could now say, “the other SIFD family”, and even though we were now only 5 families worldwide, I somehow felt like we were part of a group.

A few weeks ago, after a brief email silence, I heard from the mom. Her child had passed away due to complications from SIFD.

I was stunned. Heartbroken for her and the enormity of the loss of her child.

I rationalized that her child had a more severe form of SIFD, but nonetheless I can’t help but think of how and when this disease will further impact Kate’s life. I felt fear and shock and a deep sadness.

I feel alone again. At the same time, I feel even more determined to reach out to the other 3 SIFD families try again to share with them and establish some connection. Not a connection about mitochondrial disease, hospital navigation, special needs, medical fragility, schooling, therapy, deafness, funding, special equipment etc. I have built up that community in spades, and am grateful to the friends I have in those communities.

I am grateful for the gap they fill for me, for the frank understanding they have of the life we lead, and the compassion they have for the things still to come. For what they share with me. Thank you to those reading this – you know who you are.

I still feel the need to have that connection to SIFD, for others who have Kate’s disease. Who can talk about the treatments they have tried, the research underway, and the uncertainty of this disease. To see myself reflected in their journey. To share that bond no matter how tenuous.

 

Julie

My Greatest Strength (?)

I have an uncanny ability to forget things and I have started to think of this as a strength.

It was never glaringly apparent to me before, but more obvious to me now as the mom of a child with a rare disease who has seen my young daughter go through more things medically than anyone else would see in a lifetime.

Don’t get me wrong. I do remember things. I have ‘snapshot’ images from my youth, I remember stories/situation/anecdotes of things past. I have strong memories of my first days of Grade 3 as a new student to the local elementary school, I remember ducking out of the Grade 6 vaccination schedule (I hate needles), only to be taken to the public health nurse by my dad some few days later.  I remember details about my wedding, pregnancies (oh the nausea!), and delivery of my children. Many of my memories are so vivid that I feel I could reach out and touch them – that I can sometimes even still feel them (like that very first marathon I ever ran and the last 8 kilometers). And I can function day-to-day and I remember meetings and appointments (thankful for my calendar), and I can function at work and remember important tasks/to do’s (if they are written down). Technology has been a huge help as well and I am a consummate list maker and post it note sticker.

An elephant never forgets!

An elephant never forgets!

I remember a lot about the journey (so far) with Kate as well. I remember great detail about stressful ED visits, medical discussions about her care and management, treatment/medications/care protocols that we are constantly trialing, setting aside, trying again (but in a different dose this time), visits for second opinions, third opinions, fourth opinions. I remember hospitalizations and particular conversations in the wee hours of the night with nurses, medical students, residents, staff physicians, specialists, technicians, pharmacists etc.

What has become clear to me though is that I categorize and prioritize these memories, and that I don’t remember everything. Some memories are much more present to me and able to be recalled easily and with excellent detail, while others have to be coaxed from me – usually by my husband or someone else who collect memories and seem to forget (or file away) nothing.

I am often amazed by other parents – fellow bloggers – who can tell a particular story about events past with such vivid detail and description. Could I do that? Yes, if I had my notebooks to refer back to, and took a lot of time to reflect on the moment, to really tune in to the memory to truly recall what it was all about, and maybe asks others who were there what they remember. So yes, I can say ‘yes’ but with careful reservation, because I honestly don’t remember everything in great detail. Conversations with my husband will remind me that there are many things I do forget – things I have simply not held onto that he remembers vividly and clearly. (He has a real skill there – often noted by others).

There was a point in the past few years where my short-term memory for usual life events and information shared by others, I was unable to retain. It almost became a bit of a joke, that people who knew me would ensure they followed up with an email as I would forget details of conversations or phone calls. I would also excuse myself in certain situations when  would repeat a conversation or forget one that had happened only just recently – having forgotten the topic had already been discussed, but recognizing on the persons face that yes, we had indeed talked about such and such before. I have even come to the point of excusing myself in advance, telling people, “You know I will forget this”.

Interestingly enough, people seemed to understand. I simply explain that my ‘brain is full’. I have so much ‘Kate’ information in my head that there is room for nothing else. Not only is there ‘room’ for nothing else, any attention to creating new space for short-term memories is taken up by the persistent buzz of thinking about Kate all of the time, even when I am not thinking about her consciously.

It’s true, even when I am not thinking about Kate thoughts about her are constantly present. I am forever analyzing her status – how is she feeling – is she well – does she seem pale – was that a tremor or an absent seizure – does she seem more fatigued today than usual. If I am not analyzing her status, then I am thinking about her care management – did I make the order to the pharmacy for her medications – how much of her other medications do I have – have I followed up with occupational therapy, physical therapy, auditory verbal therapy, orthotics – did I cancel the appointment with neurology and reschedule – when was the last time she was seen by developmental pediatrics and should I make an appointment. And on it goes.

Then there is the decision-making – impossible to do with a child who has an extremely rare disease as there is never enough concrete information and the variables you have to consider when making medical decisions are like moving targets. It takes a lot of space in one’s mind to consider – reconsider – decide (somewhat) – backtrack – search for new information – weigh everything again – consider – come up with a new way to consider etc. (you get the picture).

So I have come to the realization and conclusion that NO WONDER I HAVE NO SPACE IN MY HEAD. There is nowhere to store anything in there at the forefront. Anything that is stored that is marked ‘non urgent’, goes to the back of the bus and hopefully I can recall it when prompted. My short-term memory is taken up most of the time. It is FULL.

Some might consider this normal and not a big issue. Of course there are ways around it – write things down (I do) – be very organized (show me a special needs mom who is not!) – double-check everything (check!) – have friends follow-up with email or a phone call (they do).  What makes me think about my ‘fine-tuned’ memory is what other memories are getting caught up in my ‘not remembering’. I am prone to forgetting about special and important moments too. Am I holding onto happy moments or am I equally forgetful of those? Is my focus on moving forward and pressing on affecting my memory and ability to reflect on happy past? Am I not living enough in the past?

Is this a bad thing?

I don’t think it is. I’ve come to consider my memory retention as perhaps a bit of blessing. While I am forever change by the incredible events and journey related to caring for Kate, I don’t carry with me memories of every single moment – at least at a conscious level. I am able to prioritize and keep focus on what is relevant and important for her medically in the here and now. This helps me to stay focussed and makes me an even better special needs mom to Kate, a better care coordinator and medical advocate for her. At the same time I wonder if it offers me a certain amount of protection or insulation from the painful memories that I do have – and are sure to cling to me in some way. Maybe not remembering it all is a safer way for me to be able to take it all in – over and over –  as happens with a child such as Kate. I know that we have all been through a lot of trauma, and that the soul needs time to heal and distance from the memories, and maybe that is what my mind is doing – prioritizing and protecting. There is often some light joking about ‘post traumatic stress’ among the medically fragile, medically complex parent community. Some of the events we have had to deal with alongside our children have marked us forever. So yes, maybe it is protection – this memory like a sieve that I have. I’ve learned to cope with it and appreciate it – and am starting to wonder and believe if it might be one of my greatest strengths.

 

 

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