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

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