AUGUST 17, 2022
Can Trikafta help those with rare mutations?
Welcome to the first edition of Breathe Easier! Here, you’ll meet the community member who named our newsletter, read about a research project that is looking at the potential of Trikafta to help rare cystic fibrosis (CF) mutations, meet Nicki who lives with cystic fibrosis and credits exercise to helping her stay healthy, Cystic Fibrosis Canada’s new board members and more! To make sure you don’t miss out on upcoming editions, sign up for the newsletter today!
Get to know the super mom behind the name Breathe Easier
“Breathe Easier comes from the fact that everything with CF and my son has always been about ways to make him breathe easier. I would describe a newseltter named Breathe Easier as the feeling of ease that comes from knowing you can easily access information that you can relate and contribute to.” -Gillian Maramieri, mom to Matthew, 10, who has CF. Gillian submitted the newsletter name through Cystic Fibrosis Canada’s community consultation program, Elevate.
When I was about 18 weeks pregnant with my youngest son Matthew, who is now 10, an ultrasound showed my baby had an echogenic bowel. After further ultrasounds and genetic testing, I was advised that he most likely had cystic fibrosis, and shortly after Matthew was born, we had blood tests to confirm.
I remember when the doctor walked into the NICU at SickKids and said they needed to speak with me. My mother and I were escorted to a small room where several other specialists were waiting. They advised me that Matthew had cystic fibrosis and sat and waited for a reaction. I remember the first words out of my mouth were:
“Ok, now what do we need to do?”
Exploring the potential of Trikafta to benefit those with rare CF mutations
Dr. Christine Bear is an award-winning researcher at the Hospital for Sick Children (SickKids) in Toronto, who recently received funding from Cystic Fibrosis Canada to pursue her research study, Multi-site collaboration to validate use of patient-derived nasal cultures for expanding access to CFTR modulators. Dr. Bear hopes to find a way that Trikafta can be used for CF patients with mutations other than the most common F508del mutation. Through the use of nasal cells, there could be evidence that Trikafta can improve lung health for those who have been denied access due to their rare mutations. Read more about Dr. Christine Bear’s contribution to CF research.
Cystic Fibrosis Canada is proudly able to support this research thanks to a generous grant for basic science research from the Sarah Gordon Sutherland Memorial Fund. Our sincere thanks to the Gordon family for making this work possible.
Exciting developments shared at the Cystic Fibrosis Foundation’s research conference
A five-day research conference hosted by the Cystic Fibrosis Foundation (CFF) revealed some exciting new developments in CF research.
Program Director of Research Dr. Paul Eckford, who was there to represent Cystic Fibrosis Canada, reports that interesting genetic research is underway, including RNA approaches, efforts to understand and control regulation of the CFTR gene, restoring the airway via corrected stem cells and a variety of methods for genetic correction of CFTR. Researchers are working on developing technologies that may help make gene therapy a future reality. A team is even working on 3D printing of airway cells!
Of course, researchers continue to work on modulators, including the important work of determining how they can work in people who have rare mutations.
An overview of CFF’s research strategy noted that median survival in the U.S. today is 50 years. Over the last 20 years, the number of people in the U.S. with CF who are married or living together has almost tripled; four times as many people have a college degree; and many more are having families of their own. There are many success stories, but still much work to be done.
There are many outstanding research questions and emerging priorities. As in the U.S., finding ways to help people who can’t benefit from Trikafta is a key priority for Cystic Fibrosis Canada’s research team. Stay tuned for more on this, and our other priorities, as we launch our new research strategy early next year.
Does exercise play an important role in CF care?
Exercise provides an important benefit for all individuals but especially people who live with cystic fibrosis. Exercise capacity is a marker of fitness and longevity, and being active helps our overall muscle, heart and lung function. Although exercise is not a replacement for physical therapy, it can greatly help to assist in the strengthening of muscles as well as improving moods and mental health. This can allow people to be better able to comply with therapies.
How often should I exercise and what counts?
Cystic fibrosis physician, Dr. Larry Lands, suggests that “It’s really important that exercise is enjoyable. It should not be work or another therapy.” The recommended amount of exercise per week for children is 60 minutes a day for 5 days a week and 150 minutes per week for adults. This exercise should consist of moderate to vigorous activity. Moderate activity means you’re breathing hard but you’re able to still talk and sing, whereas vigorous activity means you should only be able to talk in short sentences. It’s also recommended that children include flexibility and coordination activities such as throwing and catching a ball. As your exercise habits increase, don’t forget to adjust your protein intake, continue to hydrate and replace your salt levels.
Read more from our Ask the Experts Webinar on Exercise and CF including the importance of posture, how to exercise with a PICC line or VAD, if exercise can replace airway clearance, grants available to help cover the cost of equipment and so much more!
Nicki’s Fitness Journey: How CrossFit Changed my Life with Cystic Fibrosis
During my second year of university, my health took a serious hit. I went from 95% FEV1 to 65% FEV1 and was no longer able to play sports. As an athlete, I was devastated. For several years I struggled to do treadmill work, circuit training and walking. I had to figure out how to get exercise back in my life. Exercise is like air to me. I need it to live. I knew that for me, exercise was extremely helpful for my airway clearance. I had my first CrossFit training session in 2013 and my life was changed forever.
Learn more about Nicki’s fitness journey, how she stays motivated and what has worked for her.
Introducing Cystic Fibrosis Canada’s New Board of Directors Members!
An exciting change for the Board of Directors and the organization is the recruitment of new board members and the inclusion of a board member who lives with cystic fibrosis. We are thrilled to welcome four new members to our Board, whose professional portfolios, skills and unique experiences make them an integral part of our success.
Marie-Pier Emery – Montreal, QC
As a person living with cystic fibrosis, Marie-Pier has been involved with Cystic Fibrosis Canada since her childhood, first as a volunteer and spokesperson, and more recently as an advocate. She is a Senior Associate at the law firm of Borden Ladner Gervais LLP, where she focuses on employment law and human rights, including harassment and discrimination. Read more about Marie-Pier’s professional achievements.
Stephanie Nerlich –Toronto, ON
Before becoming a marketer, Stephanie worked closely with people living with cystic fibrosis at Camp Couchiching. She has remained passionate and connected to the cause. Today, she is responsible for all Havas Creative Network agencies in North America and serves as the Global Client Officer to support Havas’ portfolio of global and large regional clients, driving integration and ensuring client-centricity is at the core of the group’s growth strategy. Read more about Stephanie’s professional achievements.
Vincent Hamel – Montreal, QC
Vincent shares his life with his spouse who has cystic fibrosis. A finance executive, he is the Chief Financial Officer at Felix & Paul Studio. He has successfully tackled numerous challenges with respect to the start-up, transformation, acquisition and optimization of businesses. Read more about Vincent’s professional achievements.
Dr. Chelsea Jalloh – Montreal, QC
Dr. Chelsea Jalloh is not only a proud Auntie of an energetic 6-year-old living with cystic fibrosis, but also a provincial advocate and active member of the Manitoba Chapter of Cystic Fibrosis Canada. Chelsea completed her Bachelor’s, Masters and PhD in Education at the University of Manitoba. For over 15 years she has worked within the fields of community health and education with a particular focus on groups experiencing health inequities. Read more about Dr. Chelsea Jalloh’s professional achievements.
Q: Are there any medication considerations I should keep in mind this summer?
A: Yes! Many medications are temperature-sensitive, so it’s important to keep all drugs at the recommended temperature, away from light and sources of heat or cold (e.g., windows, automobiles, and appliances). Be sure to store items that require refrigeration promptly, but do not freeze them (e.g., by placing them on a freezer pack).
Enzymes should always be kept at room temperature, which is generally 15° to 30°C. You can check out our Cystic Fibrosis Summer Care Tips resource to learn about taking fluid breaks and other ways to prevent dehydration in kids and infants; how to manage allergies; what to do when poor air quality makes breathing difficult; and how to find a local CF clinic while you’re travelling – just in case. We also share some friendly reminders about wearing sunscreen and calibrating your salt intake.
We want to hear from you!
If you have questions or topics you’d like to see in the next edition of Breathe Easier, please email us firstname.lastname@example.org.
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