In Honour of Rare Disease Day


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.


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”.





  1. Julie, again thank you for sharing. Not knowing is scary and uncertain. We have embraced not knowing what our son has (as all test come back negative), as he is showing improvements. We found it hard to advocate and fight for more testing when everything comes back negative, but he has no regression, but slow improvement. I admire your resilicence and determination.


  2. Julie, Thank you for sharing your very moving story. I am hopeful that the medical community will embrace new, more powerful methods for diagnosing rare diseases to reduce diagnostic odysseys such as yours.


  3. Thank you for sharing this, your child’s welfare comes first but please do your best to educate your friends, family and colleagues on the power of genetic testing, specifically via Next Generation Sequencing, as a “disease diagnostic”. It’s scary to most people and we, as a society, need to move beyond the nefarious scientific stereotypes that are out there. Your child is just one of the first of what will be a long line of successful disease identifications. The genie is out of the bottle as they say. The only thing that stands in the way is societies embrace. Thank you and best of luck to you and your family.


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