I'll never forget the phone call from Isla's pediatrician informing us that Isla's newborn screen was positive for Cystic Fibrosis. After a 14-month diagnostic journey that included multiple sweat chloride tests, repeated blood draws, and genetic testing, we learned that Isla carries two mutations of her CFTR gene. One mutation is very common and disease causing, and one is less common and of varying clinical consequence. Neither Ken nor I had any idea we were CF carriers.
Today, Isla is diagnosed with a Cystic Fibrosis Related Metabolic Disorder (CRMS). What does this mean for her? According to the Cystic Fibrosis Foundation, "Although the future health of someone designated with CRMS remains unclear, there is a higher risk of experiencing problems in the airways, sinuses, intestines, pancreas, or the reproductive system. In some cases, evolving signs and symptoms, new information about disease-causing CFTR mutations, or changes in sweat chloride concentration levels may ultimately lead to a CF diagnosis." Isla is followed by our local CF clinic; This means she has repeated clinic appointments assessing her growth, conducting throat cultures, and monitoring sweat chloride concentration to assess whether her disease has progressed enough to warrant treatment.
I first became familiar with Cystic Fibrosis when I met a dear friend, Jennifer. A fellow military spouse and absolute CF warrior, Jennifer has inspired me more than I can possibly articulate. Throughout our 15-year friendship, I have observed how the disease has impacted her ability to breathe, to digest food, and to create a family. We've had countless conversations about the impact of CF on her life and the lives of everyone who loves her. I have always participated in Jennifer's fundraising efforts to support the Cystic Fibrosis Foundation. I never fully realized that those funds would contribute to the development of medication that would not only drastically improve and prolong Jennifer's life, but will also be a treatment option for Isla when and if she needs them.
My family is so fortunate. We recently celebrated Isla's fourth birthday. She presents as a healthy, growing, thriving, ornery and energetic child. She is an absolute joy to all who know her. However, other families are less fortunate and are significantly impacted by the disease. There are approximately 30,000 Americans living with cystic fibrosis. They are moms, dads, sisters, brothers, daughters, sons, and friends who struggle every day just to breathe. I walk for them. I walk for Jennifer. I walk for Isla. I walk for Isla's future children (should she choose to be a mother!), who will be CF carriers.
Incredible medical and scientific progress has been made, but there is still no cure for this devastating disease and many lives are cut far too short. We’ve come so far, but there’s still so much work to do. I will not stop striding until a cure is found!
YOUR SUPPORT MATTERS! Together, we can make CF stand for Cure Found. Please help me reach my fundraising goal!
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