Cystic Fibrosis is a progressive, life-shortening, genetic disease that affects the lungs, pancreas, and other organs. There are close to 40,000 children and adults living with Cystic Fibrosis in the United States (and an estimated 105,000 people have been diagnosed with CF across 94 countries), and CF can affect people of every racial and ethnic group.
Dolly was born with two very rare gene mutations and no known history of Cystic Fibrosis on either side of her family. The combination of her gene mutations, 1717-1G->A and W1282X, make her one of five people in the world with this combination. While it is known that the mutation 1717-1G->A is commonly associated with pancreatic insufficiency, little is known about the combination of both or how they will manifest/progress over Dolly’s lifetime. She is currently expected to live to her fifties.
Amazingly, due to incredible research and medical advancement over the past 10-20 years, the life expectancy of those with CF has increased from teens to 50s and continues to increase with the development of new drugs. The development of so-called “miracle” modulators is much to thank for this improvement. Modulators have been referred to as “cure” drugs and the lives of those that can take them have improved dramatically. 90% of people with CF are able to take modulators. They are now able to graduate college, start families, and have grandchildren of their own. It is truly a miracle.
Unfortunately at this time, due to the nature of Dolly's mutations, she is unable to take modulators and it is unknown if or when she will be able to… Obviously, as her mother this breaks my heart but I am hopeful that the medical advancements will continue to improve and soon she too will be able to gain access to life-changing modulators. Her doctors have a positive outlook on her future and I lean on them greatly for their care and support. Dolly’s Daily Routine
Dolly has a busy day with medications, vitamins and therapy. She takes Creon, a type of pancreatic enzyme, with every meal to help her absorb nutrients from her food. She also takes DEKAs (fat-soluble vitamins) twice daily and her therapy includes two rounds of ten minute sessions of Percussion therapy (CPT) and uses a nebulizer daily for about 15 minutes to receive Pulmozyme; both help with clearing of the lungs and loosening thick, sticky mucus.
Currently, we do Dolly’s percussions manually, but around Dolly’s second birthday, she will be big enough to be fitted for a vest that will do the CPT for us at which point we will be able to consolidate her CPT and Pulmozyme treatments, gaining back precious family time in the process.
The More You Know…
I share this not to garner sympathy or to ask for donations, but simply because knowledge is power and sharing is caring. Dolly is a happy kiddo and is part of an amazing and loving family. The future is bright and if nothing else, I ask you to please take a moment to find gratitude in your day and tell your family you love them.
IMPORTANT NOTE ON ATTENDANCE AT FOUNDATION EVENTS:
Updated July 5th, 2023
The CF Foundation is committed to ensuring the health and wellbeing of individuals attending Foundation events. Individuals attending CF Foundation events must abide by the Foundation's Event Attendance Policy www.cff.org/attendancepolicy, which includes guidance for event attendees living with cystic fibrosis.