James' Journey

Our Great Strides Story

On April 1, 2023 at age 21, our son James received his Cystic Fibrosis diagnosis. What first felt like devasting news quickly became clear that is was actually a blessing. How can learning your child has a life-long chronic disease be a blessing?  Because it was finally an answer to the health issues he’d been having throughout his life, and especially for the past three years.

CF is the result of a defective gene that causes the body to produce unusually thick, sticky mucus that clogs your airways and can lead to life-threatening lung infections.  The mucus also obstructs the pancreas and stops natural enzyme production that helps the body break down and absorb food.  More than 10 million Americans are unknowing, symptomless carriers of the defective CF gene. When babies are born to a couple where both carry the defective gene, their child has a 25% chance of having CF. It is most commonly diagnosed just weeks or months after birth.

James didn’t have typical CF symptoms at birth or throughout his toddler years.  By the time he developed symptoms in elementary and middle school, he was far beyond the typical age of a CF diagnosis, so no one suspected CF or tested him for it.  During the last 3 years, James experienced more serious issues like pancreatitis, an emergency appendectomy, and the removal of his gall bladder. His chronic cough that had been diagnosed as allergy induced asthma in middle school became much worse, and he began losing weight.

Shortly after being diagnosed, we learned James was a candidate for the newest breakthrough CF medication, TriKafta. Within two weeks of starting TriKafta, his lung function dramatically improved, and he literally stopped coughing! He had been living with compromised lung function for so long that he said “I never knew my normal was so bad.” He also began taking 3-5 enzyme pills with every meal so his body could begin absorbing food correctly and he has gained 15 lbs. since his diagnosis.  He sees his CF care team four times a year for a 4-hour appointment to assess his medications, lung function, weight and digestive function, and many other issues that can arise in a CF patient. James is feeling very positive about his health and is working fulltime. 

The majority of adults living with CF were diagnosed at birth.  Most have been in and out of the hospital for weeks and sometimes months at a time throughout their lives to receive IV antibiotics to treat life-threatening lung infections or to address other complications resulting from the digestive tract affects of CF.  Despite being on the new medication James is taking, many have a lung function of only 30-40% since their lungs have suffered irreversible damage from continuous infections. Existing antibiotics are proving ineffective for some of these rare bacterial infections.  5-10% of people with CF can’t take Trikafta due to having a rare genetic mutation that doesn’t respond to that type of medication. Many have already had a double lung transplant in their early adult life, but that doesn’t cure CF and creates a myriad of other health risks and requires many more medications to ensure their bodies don’t reject their new lungs. 

The goal of the CF Foundation is to find a cure for CF.  Over the last 50 years, the medical breakthroughs that have significantly increased the life-expectancy and quality of life for people living with CF have been nothing short of miraculous.  It’s all because the families of children with CF and the physicians who treat them partnered with the CF Foundation to raise funds for research for better treatments.

The CF Foundation is the leading driver and funding source of genetic research showing such great progress towards a cure. And now our family is joining all those who came before us in the fight to find a cure for CF.  We invite you to join us by making a donation to our Great Strides team today to help ensure one day in the near future CF stands for CURE FOUND.

THANK YOU for joining us in the fight for a cure for James and all those living with Cystic Fibrosis!

**If your employer has a matching gifts program, please make sure to get your gift matched.