{"id":61823,"date":"2021-03-17T12:34:38","date_gmt":"2021-03-17T16:34:38","guid":{"rendered":"https:\/\/www.ottawahospital.on.ca\/?p=61823"},"modified":"2021-04-01T12:14:05","modified_gmt":"2021-04-01T16:14:05","slug":"patient-gets-life-changing-diagnosis-thanks-to-open-science","status":"publish","type":"post","link":"https:\/\/www.ottawahospital.on.ca\/en\/healthy-tomorrows\/patient-gets-life-changing-diagnosis-thanks-to-open-science\/","title":{"rendered":"Patient gets life-changing diagnosis thanks to Open Science"},"content":{"rendered":"\n

When Jenna Keindel was 16 years old, she was diagnosed with muscular dystrophy \u2013 a diagnosis that would change the course of her life not once, but twice.<\/p>\n\n\n\n

Muscle biopsies and years of progressive muscle weakness in Jenna\u2019s shoulders, hips and neck led doctors at The Ottawa Hospital to believe she had limb-girdle muscular dystrophy (LGMD)<\/a>, a rare type of muscular dystrophy with numerous genetic subtypes.<\/p>\n\n\n\n

\"Jenna
Jenna Keindel received a new diagnosis that changed her life, thanks to Open Science.<\/em><\/figcaption><\/figure><\/div>\n\n\n\n

However, doctors couldn\u2019t identify the exact gene that was causing the disease \u2013 so the LGMD diagnosis was their best assumption. Without an exact genetic subtype, Jenna and her doctors couldn\u2019t predict how the disease would progress over time.<\/p>\n\n\n\n

\u201cBecause there are so many variations of limb-girdle muscular dystrophy, my doctors couldn\u2019t tell me what to expect other than my muscles are going to keep getting worse and unfortunately, there\u2019s no cure,\u201d explained Jenna, who is now 40 and living with her family in Shawville, QC. \u201cThe only missing link to my diagnosis were the genes.\u201d<\/p>\n\n\n\n

In the years that followed her diagnosis, Jenna\u2019s muscles continued to weaken and eventually she began using a wheelchair. And the search for a genetic subtype continued.<\/p>\n\n\n\n

Finding a new diagnosis in an unlikely place<\/h2>\n\n\n\n

Jenna became involved in several muscular dystrophy Facebook groups. There she found peer support, resources and general information, and occasionally members would share links to new studies or research on muscular dystrophy.<\/p>\n\n\n\n

In January 2019, Jenna\u2019s trusted friend, who also had LGMD, posted a research article in one of the groups that caught Jenna\u2019s attention.<\/p>\n\n\n\n

\u201cIt said, \u2018Limb-girdle muscular dystrophy mimics autoimmune disorder.\u2019 I read it and it sounded like my story,\u201d said Jenna.<\/p>\n\n\n\n

\u201cIn Jenna\u2019s case, it is quite profound that the availability of that article changed the course of her diagnosis and her subsequent treatment and overall quality of life.\u201d<\/p><\/blockquote>\n\n\n\n

Jenna immediately sent the article to Dr. Jodi Warman, a neurologist at The Ottawa Hospital who has cared for Jenna for many years. While the autoimmune disorder didn\u2019t quite fit with Jenna\u2019s medical history, Dr. Warman was happy to order the test.<\/p>\n\n\n\n

To their surprise, Jenna tested positive for the autoimmune disorder \u2013 and not just positive \u2013 highly positive.  <\/p>\n\n\n\n

\u201cI was shocked,\u201d said Jenna.<\/p>\n\n\n\n

A renewed sense of hope<\/h2>\n\n\n\n

With the new diagnosis, Jenna\u2019s life changed course once more. But this time, Jenna felt a renewed sense of hope for the future and had a clear treatment plan that included immunosuppressants. She is looking forward to starting physiotherapy at The Ottawa Hospital\u2019s Rehab Centre.  <\/p>\n\n\n\n

\u201cI\u2019m not going to get worse, which is good because before I was just declining\u2026 There\u2019s potential for improvements and muscles that can get stronger,\u201d said Jenna. \u201cIf I have to use a wheelchair but can even just stand to reach for a box of cereal on the top shelf, and then sit back down, that would be tremendous to me.\u201d<\/p>\n\n\n\n

Open Science: Making research accessible to everyone<\/h2>\n\n\n\n

Jenna accessed the study that changed her diagnosis, and life, thanks in part to a movement that\u2019s gaining momentum in the research community: Open Science.<\/p>\n\n\n\n

Open Science is both a movement and a practice to make the research process more transparent and ensure its findings are accessible to everyone. Through adopting Open Science practices in their day-to-day routine, researchers can make their studies more reproducible, accessible and transparent. Practicing Open Science includes creating detailed research protocols, and making the data and results of research studies, including research papers, publicly available.<\/p>\n\n\n\n

\u201cI\u2019m grateful for open science for pointing the study towards me, so my job now is to advocate further and encourage others to do the same thing.\u201d<\/p><\/blockquote>\n\n\n\n

Historically, those looking to access research have faced numerous obstacles. Limited data sharing and inaccessible records, highly technical language and publication of findings behind paywalls are just a few of the challenges that have kept research from being shared with the wider research community and patients.<\/p>\n\n\n\n

The motives and benefits for pursuing Open Science are many.<\/p>\n\n\n\n

\"Dr.
Dr. Kelly Cobey is a Publications Officer with The Ottawa Hospital\u2019s Centre for Journalology. She spends her days consulting with researchers, giving seminars and helping to develop policies and partnerships that promote Open Science. <\/em><\/figcaption><\/figure>\n\n\n\n

\u201cFrom a research integrity perspective, Open Science practices embed transparency. It allows us to track a research project from start to finish. We can actually have evidence that researchers got ethical approval, collected data and we can actually see that data,\u201d explained Dr. Kelly Cobey, an Open Science expert and Publications Officer with The Ottawa Hospital\u2019s Centre for Journalology<\/a>. \u201cAnother perspective is from the reproducibility view. Open Science allows researchers to replicate what other researchers have done to see if the finding is robust. With data sharing, you can replicate the analysis to see if results match up. In the absence of open data, there\u2019s no way to do that.\u201d<\/p>\n\n\n\n

How The Ottawa Hospital is investing in Open Science<\/h2>\n\n\n\n

While Open Science practices are still in the early stages of adoption in institutions across Canada, The Ottawa Hospital is taking major steps to invest in supports for researchers. <\/p>\n\n\n\n

As a Publications Officer, Dr. Cobey helps researchers at The Ottawa Hospital, CHEO and the University of Ottawa Heart Institute navigate the complex processes to publish their research. She spends her days consulting with researchers, giving seminars and helping to develop policies and partnerships that promote Open Science. <\/p>\n\n\n\n

Data sharing among researchers can lead to innovation and discoveries more rapidly than it otherwise would. In health care, it could mean faster access to treatments or cures for rare diseases<\/p><\/blockquote>\n\n\n\n

The Centre itself, which opened in 2015, is believed to be the first of its kind in the world. \u201cIt\u2019s exceptionally rare to have that built-in support for publishing and Open Science practices,\u201d explained Dr. Cobey. \u201cThe Ottawa Hospital is a step ahead in that we recognize Open Science\u2019s value and have created core resources for researchers to use. We are working to create a culture change so that Open Science practices become a norm rather than an exception\u201d<\/p>\n\n\n\n

The Ottawa Hospital can support resources like the Centre thanks to generous donations to The Ottawa Hospital Foundation<\/a>.<\/p>\n\n\n\n

\u201cI\u2019m grateful for Open Science\u201d<\/h2>\n\n\n\n
\"\"
Jenna has now started treatment for her autoimmune disorder, which includes intravenous immunoglobulin.<\/em><\/figcaption><\/figure><\/div>\n\n\n\n

Perhaps the most significant benefits of Open Science practices are experienced by patients.<\/p>\n\n\n\n

Data sharing among researchers can lead to innovation and discoveries more rapidly than it otherwise would. In health care, it could mean faster access to treatments or cures for rare diseases. Additionally, the simple act of giving patients access to research means they can become more empowered in their care.<\/p>\n\n\n\n

\u201cIn Jenna\u2019s case, it is quite profound that the availability of that article changed the course of her diagnosis and her subsequent treatment and overall quality of life,\u201d said Dr. Cobey. \u201cIt\u2019s truly incredible that she\u2019s regaining muscle ability that she was losing everyday.\u201d<\/p>\n\n\n\n

\u201cHad I not seen the article, I don\u2019t think I would be on this new path,\u201d said Jenna.<\/p>\n\n\n\n

With treatment underway and a proper diagnosis in hand, Jenna now focuses on encouraging others with muscular dystrophy to engage with the research that\u2019s currently available \u2013 whether it\u2019s just by sending it to their doctors for consideration or taking a new test.<\/p>\n\n\n\n

 \u201cTo finally have a piece of paper that led me to a new path that within six weeks was like, \u2018Here\u2019s your diagnosis, and by the way you start treatment,\u2019 to have that hope is tremendous,\u201d said Jenna. \u201cI\u2019m grateful for Open Science for pointing the study towards me, so my job now is to advocate further and encourage others to do the same thing.\u201d<\/p>\n\n\n\n

Learn more about Open Science<\/h2>\n\n\n\n

Are you interested in learning more about Open Science and how The Ottawa Hospital is trying to make sure our research is conducted with transparency and patients like Jenna at the forefront? Tune into our Facebook Live event on March 30 to hear from Dr. Cobey and others who are working to push the Open Science movement forward.<\/p>\n\n\n\n

Event details:<\/h2>\n\n\n\n