Meet Jaclyn: Scientist, Affected Individual and Advocate

Updated: Feb 6


Jaclyn Prystupa was always interested in science. In school, biology was her favorite subject, and the Saskatchewan Science Centre was one of her favorite places to visit. Yet it was Jaclyn’s love of horses that led her to study genetics and genomics -- and it was her CMD diagnosis that sparked her to research her own condition.


Jaclyn is currently the SELENON-RM Patient Advocate and Digital Consultant at the Beggs Laboratory at Boston Children’s Hospital (previously was the Research Technologist there). We met with Jaclyn to learn about her work, her insights, and her thoughts about how other affected individuals and families can be partners in CMD research.


Cure CMD: How did you ultimately refine your interest to focus on genetics?

Jaclyn: My interest in horses is ultimately what led me down the path to working in the field of genetics and genomics. After completing my Bachelor of Science degree in Agriculture, majoring in Animal Science, I was not quite sure what I wanted to do next. At that point I had only taken the required genetics courses needed to complete my undergraduate degree. Fortunately, I came across a posting for a Master of Science project that aimed to investigate the genetic diversity of pony breeds. While I did enjoy the few undergrad classes in genetics I took, it was ultimately my love of horses that pushed me to apply for the project. Working on that project I developed and expanded my knowledge in molecular, conservation and population genetics. I suppose the rest is as they say, history, and I have been working in genetics and genomics ever since, and over the years I slowly shifted from animal science into horticulture research, and now congenital myopathy research.


CCMD: Can you tell us about a turning point in your work?

Jaclyn: I can say that getting diagnosed with a neuromuscular disorder in my mid 20s most definitely resulted in a turning point in my career. That diagnosis essentially set in motion for me to start looking at ways for me to use my skill set to help with neuromuscular research. I moved from my hometown province of Saskatchewan (Canada) to Ontario (also in Canada) where I further increased my knowledge and laboratory skill sets in genetics and applied genomics, as well as concluded my diagnostic odyssey resulting in the diagnosis of a SELENON-Related Myopathy (RM). I then began learning everything I could about this rare myopathy in my spare time. Eventually, I was able to attend the International Conference on SEPN1-Related Myopathies in 2017 as a patient advocate. Later at the end of 2018, I joined the Beggs Laboratory at the Boston Children’s Hospital where I currently work as a Research Technologist on their SELENON project.

CCMD: Tell us, in lay terms, about the recent SELENON-RM survey. What were some of the findings that interested you most?

Jaclyn: This survey was developed in part as a response to patient advocate suggestions from the 2017 International Conference on SEPN1-Related Myopathies. The online study entitled “The SELENON (SEPN1/Rigid Spine) Related Myopathy Study on The Effect of Diet & Lifestyle on Symptom Severity in Affected Individuals” is a collaboration between Cure CMD and the Beggs Laboratory at the Boston Children’s Hospital, and was launched at the end of 2019. It is still currently accepting participants.


The goal of this study is to understand if diet and lifestyle can help explain some of the wide variation observed in symptom severity and/or time of symptom onset in SELENON-RM affected individuals. Well we are still in the process of analyzing modules from this study, I can say that the findings that interested me the most so far were presented as a poster at the World Muscle Society (WMS) 25: Virtual Congress (held September 28 - October 2, 2020). Specifically, though I was not surprised that age influenced perceived activity scores, I did find it interesting that there was such a difference in perceived activity scores between female and male participants. It should be noted that the number of participants for this analysis was relatively small, so future research and analyses should involve trying to increase the number of participants to further help refine the relationships between gender, age, diet, and BMI and perceived activity and pulmonary scores in SELENON-RM affected individuals.


CCMD: What's next for you and your work?

Jaclyn: As mentioned previously, we are still in the process of analyzing all the modules from the SELENON-RM study. With that said, the goal will be to complete this in the near future, as well as hopefully increase the number of participants enrolled in this study. I am also currently working on a draft manuscript that will involve some more analyses of additional modules from the survey and will hopefully be completed soon.


CCMD: What is the most surprising thing about your job?

Jaclyn: I find it surprising how fast technology changes in the field of genetics and genomics. I look back on the technologies used while completing my Master of Science, finished just under a decade ago, and how much has changed since. These changes in technologies have ultimately made it much easier for us to help diagnose various rare genetic disorders including the SELENON-RMs, and in turn also help with our knowledge and understanding of this (as well as other) rare neuromuscular disorders.


CCMD: What keeps you going back to work every day?

Jaclyn: The quest for knowledge. There is still so much we do not know about the SELENON-RMs, as well as the end goal of having a treatment or cure. It's like the ultimate puzzle, and I think that both my skill set as well as my unique perspective as a SELENON-RM affected individual can really help researchers put a few more of the puzzle pieces in place.


CCMD: Do you have hobbies or things you like to do in your free time?

Jaclyn: After 20 years of horseback riding, I can still say that I try to make time to ride twice a week. Though it may not be at the same level I rode at years ago prior to my diagnosis, being in the saddle is still my happy place. I also really enjoy spending time with family and friends. My dog has also been my constant companion with moving both across provinces and international borders. In addition, prior to current world events, I also liked to travel, and will hopefully be able to do that again soon.

CCMD: Any thoughts for families affected by SELENON/SEPN1, and how they can be partners in research?

Jaclyn: First, for those that are affected by a SELENON-RM: Do not let it hold you back. My diagnosis may have affected my ability to walk long distances, but make no mistake, I have travelled further and farther in life because of it. Find your passion in life, whatever it is, and follow it. You may have to do some creative thinking, or find unique ways during the process to achieve your goals, due to the diagnosis, but that is ok. The victory will be sweeter in the end. The diagnosis is a part of you, but it by no means defines who you are.



Jaclyn's poster as presented at the The 25th International

Annual Virtual Congress of the World Muscle Society (2020)



Audio supplement: Overview of SELENON-RM and initial study results from the SELENON-RM Study on The Effect of Diet & Lifestyle on Symptom Severity in Affected Individuals


Learn more about SELENON/SEPN1 Join the Congenital Muscle Disease International Registry

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