Rowlingwiththepunches

Rowland is an active little boy who is so happy and outgoing. He just started going to school in January part time and when I dropped him off two little boys yelled, “Rowland’s here!” and they all started playing together. The teacher came up to me and tells me “Wow, Rowland has only been here three weeks and he is the most social little guy. He has so many friends.”

While pre school has been a success so far, it has been challenging for me as a mom to let go of control- to get to a place where I felt comfortable sending Rowland to school. I think a lot of moms can relate– I had been home with him 2.5 years and was the primary person doing his daily routines. With Cystic Fibrosis, however, the daily routines include an intense medication regimen that takes about one hour in the morning and one hour in the evening. Since CF is a disease that affects many organs of the body including lungs and the GI system, we do something called the airway vest clearance system that shakes his chest to break the mucus up in his lungs and uses the nebulizer where he inhales two medications to prevent lung infections from occurring. In addition, Rowland has GI issues as the result of CF so we give him three medications through a syringe in the morning and evening to help with these issues. At the end of the treatment routine, we give him a medication called Trikafta, a modulator that prevents the underlying cause of the disease. Trikafta is the reason I became comfortable sending Rowland to preschool. Trikafta has become a “miracle drug” for some people, but not all, living with Cystic Fibrosis. In 2010, the average life expectancy for someone living with CF was in their thirties. Today it is in the 50s. People living with CF who had been in and out of the hospital are no longer needing to go to the hospital. It truly is an amazing medication. After a battle with our insurance company, we are so thankful Rowland received access to Trikafta at the age of 2. CF is a progressive genetic disease so once damage has been done, there is no going back. Getting my son on Trikafta at 2 before any significant damage has been done is so important and will improve his life expectancy. I am so thankful to the donors who came before us who raised funds for the CF Foundation. The CF Foundation has funded researchers who figured out how to make a medication like Trikafta and I am forever grateful. While I’m still fearful of certain germs my son could get at pre school, that fear has certainly decreased thanks to Trikafta.

The work the CF Foundation does however is not finished. Trikafta is not a cure and about 10% of the Cystic Fibrosis population in the United States either cannot benefit from Trikafta or does not have access to Trikafta. At Miller Childrens in Long Beach where my son goes, 20-25% of the CF population are not currently taking Trikafta– in part because there is a health inequity that exists due to racial background and the CF population at Millers is very diverse. People that are Black, Hispanic, or another race/ethnicity other than white are less likely to have access to a modulator like Trikafta. The reason why is because there are over 2000 CF variants or mutations that exist and Trikafta was designed for the most common mutation which has a higher prevalence in people with European ancestry compared to other ancestral backgrounds. About 90% of babies CF conditions are caught on the newborn screening that is done on all infants. We unfortunately had a false negative newborn screening due to my son’s two rare mutations– one mutation has only been found in Ecuadorian populations. My son had trouble gaining weight and so we advocated for a sweat test which is a test used to diagnosis CF and we received his diagnosis at six months. In fact, my son technically shouldn’t have access to Trikafta due to his two rare mutations. His mutations are not on the approved FDA list of mutations. Our team at Millers fought hard to gain access for my son. We know Trikafta has worked for my son. When he was little before he started taking Trikafta he used to vomit nightly due to gastroparesis a complication of CF. It was absolutely awful. We had to take him to the ER because he wouldn’t stop vomiting and had vomited dried blood. At one year he was hospitalized for pancreatitis due to high lipase and amylase levels which is an indication the pancreas is inflamed and not working properly. When Rowland started Trikafta, he stopped vomiting at night. At three months post Trikafta his amylase levels went to normal levels. Pre Trikafta they had always been triple what they should have been. It is working for Rowland, however it is not designed for his mutation. Some individuals cannot tolerate the side effects of Trikafta and others have two CF mutations that unfortunately just will not respond to the drug. 

My point is, we need a cure and we are now closer than ever to finding one. The CF Foundation is an amazing organization and I have felt so supported by them as we have navigated this diagnosis. I feel so much hope for Rowland’s future and it is because of the CF Foundation’s commitment to helping all people living with CF and ultimately to find a cure. Please consider walking with us at the Huntington Beach, Great Strides walk or making a donation to support Rowland!