Cystic fibrosis is a progressive, genetic disease that causes persistent lung infections and limits the ability to breathe over time. In people with CF, a defective gene causes a thick, sticky buildup of mucus in the lungs, pancreas, and other organs. The average life expectancy is 40.
PRA’s Laura Denkers is very familiar with CF. Her twin sons, Riley and Wyatt, were diagnosed at birth. She shares her family’s story:
When were your sons first diagnosed?
At birth, with newborn screening blood work.
When did you first suspect something was wrong?
They were 3 months early in a high-risk pregnancy, so it was very difficult to determine what GI and lung complications were from prematurity vs CF so we had many doctors, a few surgeries and just did all the treatments we could.
They were in the NICU for 3 months constantly having infections that set them back to breathing and feeding tubes. They had a lot of struggles gaining weight, passing stools and just trying to eat while breathing. It took 3.5 months and a few surgeries till we could take them home. We were very close with the NICU nurses and doctors and they assured us most preemies have similar struggles and that the CF wasn’t as severe as it could be. They made all our follow up appointments, one of which they called the lung appointment and that was a terrible appointment. They drilled in the life expectancy which then was only 30 yrs old… I wasn’t even 30 yet! They also gave us the full regiment of medicine for CF without doing further testing. Eventually we questioned that and were much more comfortable at another clinic.
What advice would you give another parent who receives this diagnosis?
With the newborn screening they are catching so many at birth with this disease. Starting to see a CF doctor accredited by the foundation early on will save their life. We are so lucky to have managed this from the beginning.
Where do you find support?
We just get through each day, there isn’t really time to stop and think about it. I also noticed quickly that my kids -- even though the disease is progressive and I know it will get worse -- right now, they have only been hospitalized once since we brought them home and for CF it is common to need it more often. Many support groups have lost their loved ones and I’m not ready to face that either.
Are you involved in any CF related groups or participate in any fundraising efforts?
The boys had preemie health issues along with the Cystic Fibrosis and it took years to get their growth and health under control. But once things seemed to be manageable we found ourselves in Lake Anna, VA with very little businesses and lots of opportunity.
With two close friends we started a tax exempt nonprofit called Travel Lake Anna. We wanted to find a cure for our kids while bringing people to Lake Anna, where we find our peace. We started planning our first festival and it quickly became much more. We now attract ~2500 people to each event with 50+ local businesses benefiting from the crowds.
Since we started we now do Lake Anna Brewfest and Wine by the Lake each year and have raised $10,500 for the Cystic Fibrosis Foundation, and $2,000 to the Lake Anna State Park to add in a handicap kayak loading dock so more people can enjoy the lake.
The CF foundation has invited us to assist executing a new Brewers Ball in Charlottesville that has now raised over 100k in the last two years, so these events have led to other ways we can help expedite research for a cure.
Many people here in the Charlottesville, Virginia PRA office have helped with those efforts. PRA has done a 50/50 raffle and the winner donated her portion right back to the CF Foundation as well. PRA is also in contact with the CF Foundation’s director for opportunities that may align.
Tell us about your children’s health journey. Have they been in clinical studies?
So far they have only been in one study. It’s a sibling study to track health of siblings with CF so they can learn and document that even in the same family and same genes that the symptoms and severity vary.
We spend roughly one hour twice a day doing therapies since they were only a few months old to help clear out their lungs, and they take many other medications daily. It’s a constant struggle to fit activities into our lives, but we have a wonderful support system of doctors and families. My husband and I decided we had to do more to expedite a cure because we hate how much time and suffering our kids have had to go through.
Tell us about Kalydeco and what is encouraging to you about this therapy?
Just a few weeks ago we received an email from our CF doctor’s office that the FDA approved Kalydeco for patients with the specific gene mutations our kids have. Since we have been going through the process to see if we can get it approved.
We couldn’t be more excited to have a choice. We never thought this would be in front of us so soon. They still refer to this disease as an invisible disease and we do forget the severity since our day to day treatments seem so normal to us. The lack of long term data on this medicine has me questioning if this is the right thing for our kids to start them on genetic altering medicine while they are still growing and developing… But then our doctors and their history remind us that each cold brings us further along in the disease and that is probably worse to wait. We are so grateful and excited to try a medicine that may replace our other treatments and extend their lives.
The unique mechanism of action of Kalydeco revolutionized CF treatment by addressing the underlying cause of the disease, a genetic defect in the gene encoding for the CFTR protein. Due to this mutation, patients develop a thick and sticky mucus in the respiratory, digestive and reproductive systems. Kalydeco works to keep CFTR proteins at the cell surface open to facilitate the transport of salt and water through cells, improving hydration and mucus clearance. (In gating mutations, the sodium channel does not open as it should.) It can now help an estimated 10% of the people with Cystic Fibrosis. https://cysticfibrosisnewstoday.com/kalydeco-ivacaftor/
This drug has been proven to correct the mutated genes so that it can actually have the body working properly. My kids are on so many medicines for each part of the body because each deficiency needs specific attention. With this the hope is to come off the other medicines. Also, some problems the kids have especially with their GI tract haven’t been able to be fixed.
Are you encouraged by recent research? What are you hopeful for?
I still hope that there is a cure to not require any medication for my kids and that way I don’t have to worry about long term effects. I want them to have long healthy lives.
Editor's note: Sadly, Wyatt and Riley had to stop taking Kalydeco because of the side effects. Their family isn't giving up hope or their mission, though -- this past weekend, they held another festival that raised money for the CF Foundation.