I wanted to write an informational blog post to educate others about Cystic Fibrosis and explain a bit about Maddox’s specific CF story. I hope this page can serve as a living document and can be used and re-used and updated as the landscape of CF continues to evolve. This is a lengthy post, but I included headers if you were interested in certain aspects. 

Cystic Fibrosis: Medical and Biological Background

Cystic Fibrosis is a progressive, genetic disorder that affects the lungs, pancreas, and other organs. It is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene which causes the CFTR protein to be dysfunctional. When this protein is dysfunctional, it is unable to move chloride to the cell surface. Without  chloride to attract water, the mucus in various organs become thick and sticky. 

Clinical implications of this in the lungs include mucus clogging airways and trapping bacteria leading to increased infection, inflammation, and more. In the pancreas it causes buildup of mucus which prevents the release of digestive enzymes that help the body absorb food and key nutrients which can lead to malnutrition and poor growth. 

Overall symptoms of CF include persistent coughing, frequent lung infections, poor growth, shortness of breath, difficulty with bowel movements, and more.  

For more and continually updated information on the background of CF, please visit: https://www.cff.org/intro-cf

Knowing all of this, in order for a person to have CF, they have to have two copies of mutations of the CFTR gene. 

Think of your genetics as various recipes for all kinds of different molecules that combine to work together to make you, you. 

Let’s use the example of chocolate chip cookies. If the recipe you had for chocolate chip cookies left out the flour you wouldn’t have very good cookies. Or if it left out the part to preheat the oven, the cookies would never bake. Or maybe the recipe left out the step to combine the ingredients – now those wouldn’t turn out to be edible chocolate chip cookies at all. It may be a silly analogy, but it works the same with our DNA. With cystic fibrosis, the CFTR gene has a recipe that just doesn’t quite produce the correct CFTR protein needed. This leads to a faulty cell regulator that doesn’t allow the correct levels of Chloride in and out of the cell which, as mentioned above, causes the sticky mucus around these cells to form. 

If you really want to nerd out and learn more at a molecular level, here’s a good place to start: https://www.cff.org/research-clinical-trials/basics-cftr-protein

Maddox’s CF Inheritance Story

So, in Maddox’s case – Adam and I both have a mutation that we passed along to Maddox. We discovered all of this when I was pregnant with Maddy. I elected to get genetic testing which is offered and optional while you are pregnant. Through this testing (via blood draw) I found that I was a Cystic Fibrosis carrier. I remember thinking “What is Cystic Fibrosis? I’ve never even heard of that. And what does it mean that I’m a carrier.” I quickly educated myself and learned a bit about CF and discovered I’m a carrier of a mutation that can cause CF, and the reason I didn’t know what it was was because it can be passed down for generations without any clinical signs when you are only a carrier. It could have come from either side of my family. Many people could be CF carriers, it is more common than you would think. You just wouldn’t know it (like Adam and I didn’t know) because again, being a carrier means you only have one mutation of the CFTR gene which leaves you virtually asymptomatic. I also learned that just because you’re a carrier does not mean your child will have CF. Actually, both parents need to be carriers or have CF for any chance of your child getting CF. “Phew!” I thought “There is no way that Adam is also a carrier. So there is no chance Maddox will get CF.” Adam got his blood work done to check to see if he was a carrier too and we got the phone call that he too was a CF carrier of a different mutation. Our hearts sank. As I mentioned, a child has to inherit two copies of the CF mutation in order to have CF. It doesn’t matter if they’re the same or different mutations, he just has to get one from each parent. The chances of this are 1 out of 4 when both parents are carriers. We thought these were pretty good odds – only a 25% chance of Maddox getting CF. I underwent an amniocentesis at about 16 weeks pregnant to extract Maddox’s DNA in utero to see if he had CF (inherited both mutations), was a carrier (inherited only one mutation), or didn’t get CF (inherited neither mutations). 

I’ll never forget getting that phone call on February 13 when we were told Maddox inherited CF. Probably one of the hardest days of our lives. In time, I may write a post sharing some of the heartache, grief, and overcoming of this news. 

Maddox’s CF Mutations 

The two mutations that Maddox inherited are the DeltaF508 mutation (from Dad) and the 621+1G > T mutation (from Mom). Don’t worry about those complicated scientific names. All you need to know is that the mutation he got from his mom is a very rare mutation and the mutation he got from his Dad is the most common CF mutation – this is actually great news because this is where a lot of research and medical interventions are happening (more on that below!). 

There is only so much you can learn and predict from specific mutations. Everyone is different and regardless of mutations, CF presents itself differently in everyone. So, we didn’t know how it would present itself in Maddox and we are still discovering that. CF is a progressive disease so we will continue to learn how this looks for our little boy. 

Maddox’s CF Symptoms and Treatment 

If you have been following the blog you already know that Maddy is pancreatic insufficient. What does this really mean and why? As mentioned previously, it means his pancreas doesn’t provide the enzymes needed to break down and absorb nutrients. So in his case, we give him enzymes before he eats. Right now we mix it in applesauce (with some salts that his body also needs) on a little baby spoon, but in the future we will be able to mix it in his baby food and eventually he will be able to take it in pill form on his own. This is likely something he will have to do every time he eats for the rest of his life. 

For more information please visit: https://www.cff.org/managing-cf/digestive-tract 

Other than that, as mentioned in previous blog posts, we do manual airway clearance or “chest PT” twice a day with him to break up the sticky mucus in his lungs and prevent infection. This is something we do with a little instrument now, but in the future (probably around 1 year old), he will get a vest to shake up this mucus for him. 

For more information please visit: https://www.cff.org/managing-cf/chest-physical-therapy and https://www.cff.org/managing-cf/high-frequency-chest-wall-oscillation-vest

In addition to a CF multivitamin that Maddox takes daily, those are the treatments he is receiving as of now. We know that there will be more treatments in the future for him as his disease progresses.

Risks 

Now that you have a bit of background on CF and where Maddox currently stands, I wanted to share some ways we, as his family and community, can help protect and support him. The main thing is just being ultra aware of your own sickness and trying not to expose Maddox to it. We know he will get sick, but with any chance we can protect him from it, we would like to. As you’ve read, it’s just a more difficult road for him when he does get sick and may at times cause permanent damage to his lungs. 

Some other ways we can protect him are keeping him away from stagnant water. This includes small ponds, some pools, hot tubs, water parks, and sometimes not well cleaned bathroom and kitchen sinks. 

The reason being is that these things, among others, have higher levels of waterborne bacteria. Maddox is more likely to get infections from this bacteria (called Pseudomonas) than we are. It is also more difficult for him to clear these infections due to the sticky mucus, leading to increased and spread infection and at times permanent damage. 

For more information please read: https://www.cff.org/managing-cf/infections 

CF Today: Trikafta and Beyond

I want to end on the incredible news happening right now in the CF landscape. There is a medication called Trikafta, they’re calling it the “miracle drug”, that just got approved for 2 years and older. It is the closest thing there is for a cure. In order to be eligible, you must have the F508del mutation which, as mentioned previously, Maddox has! We are looking forward to this. He will likely continue on his enzymes but this will help significantly with any pulmonary symptoms that may emerge. For more information please visit: https://www.cff.org/managing-cf/cftr-modulator-therapies and https://www.cff.org/managing-cf/medications

As we continue to navigate and learn about CF, we keep in mind that it is still only a part of who Maddox is. It doesn’t define him or us. We are continually working on balancing protecting him but not isolating him; being careful but not paralyzing ourselves with anxiety; acknowledging CF but not letting it rule our lives. We hope as you are reading this, and are such an important part of Maddox’s village, we can all work together to attain this delicate and sometimes tricky balance.

At the end of the day, I try to rest in these words that God whispered to me in a moment of distress a few weeks ago: “Use your wisdom, be his mama, then let me protect him.” How wonderful and how powerful.

“He will cover you with his feathers, and under his wings you will find refuge;” Psalm 91:4