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Is Your Child a Cystic Fibrosis Carrier? You’re Not Alone.

When Leo was only 2 weeks old, I received a missed call from his pediatrician, like, the actual doctor. My firstthought was “quick panic, think of anything and everything that could be wrong with your NEW baby and sob about it.” That lasted about 10 seconds, and then I listened to the Doctor’s voicemail…

“This is Leo’s doctor… his newborn screenings came back and there was one test that came back inconclusive. I highly recommend you schedule an appointment with the pulmonary department.” 

Ok, that doesn’t sound too bad, right? I mean, Pulmonary Department? What does that even mean? 

Well, as soon as I put the phone down, my ringer went off again.. this time it was a call from Danville. 

Now, I don’t know about you guys, but whenever I receive a call and it says Danville, PA on the caller ID, I automatically assume it’s someone calling me from the hospital. Cus, you know, they have that huge hospital and many people have to go there if they’re going through something really serious. 

Anyways, so I let it go to voicemail like I mostly do when I receive a call from a number I don’t know (too many scammers out there, and honestly, it’s getting really serious, so no one should be answering calls they don’t know. Seriously, if you do that, STOP before it’s too late! If it’s important they’ll leave a message). 

So, they do end up leaving a voicemail and of course, it’s about Leo *crying face*. 

And this is what they say..

“Hi, this is blah blah from the Pulmonary Department at Geisinger in Danville calling about Leo. We need to talk about a few things and get Leo scheduled to get tested..” 

Ugh. Obviously I was sobbing uncontrollably at this point because ONE, I had just given birth and my hormones were through the roof, and TWO, there’s something serious going on and my new baby is in the middle of it. 

So, after a couple of minutes of that, I gather myself and give this person a call back. 

She says that Leo’s newborn screenings came back and the results from the Cystic Fibrosis (CF) test were abnormally high…

OMG. What does this mean? Does my baby have CF? What even is it? I mean, I knew it was something bad, but I didn’t know the extent of it. 

The lady talked and talked, but I didn’t pay any attention because I was lost in thought. 

Basically, I had to bring Leo down to Danville (about an hour drive) to have a sweat test done in order to find out if he had Cystic Fibrosis or if he was just a carrier of it. Most likely, he was going to be one of the two. 

***Skip this part if you already know about CF and what it means to be a carrier. 

About CF: Ok, so for those of you who don’t know, CF is a genetic disease. It “causes persistent lung infections and limits the ability to breathe over time” (About Cystic Fibrosis). With CF, it’s possible to live a normal life. However, the average life expectancy is about 38 years. If you have CF, then both of your parents have a copy of the CF gene. Meaning, the parents are carriers of the CF gene. 

What it Means to be a Carrier: 
In order to be a carrier of the CF gene, one of your parents need to be a carrier, as well. As a carrier, you do not have the disease, nor do you have any of the symptoms that comes with CF. You literally are ONLY the carrier. 

If you want to do any research on the subject via internet, you should only read what’s on the CF foundation’s website. There’s a lot of false information floating through the web. 


*****

So, the sweat test was pretty simple and took about an hour. 

But of course anything that has to do with a public place and a baby has to be stressful. 

As soon as we got to the hospital, Leo starts crying because he’s hungry. My fiancé goes to grab the formula out of the diaper bag and … wait for it…. we (me) forgot the formula! Can you believe it?! We forgot the krabby party secret formula! Oh wait… that’s not this. 

Remember, we live over an hour away, so it’s not like we can just run home. So, we kind of just hope a binky will do for now because we’re next in line. 

WELL, the binky did NOT suffice and Leo was letting everyone know. 

We go into the room where Leo’s test was going to be performed and after about 10 mins of constant crying from Leo (and me on the inside), we have no choice but to send one of us (daddy) to the closest store to get formula. 

ANYWAYS, we get the formula, Leo eats, and the test is completed. Now we have to walk 5 miles (not literally) to the opposite side of the hospital to get to the pediatrician’s office to find out the results of the test. 

The moment is finally here. We were about to find out if my baby had CF or was just a carrier. 

At this point, it was extremely difficult to hold it to get together emotionally. I did have a minor break down when a CF representative finally brought us into the office and told us she would be right back with the results. 
5 minutes later the representative and a doctor came into our room. As soon as I saw the doctor I was just like, oh no it’s going to be bad news that’s why they brought the doctor in .. 

The woman must have noticed the anxious look I had on my face because she immediately hit us with the thumbs up and said LEO IS ONLY A CARRIER. 

Omg. 

What a relief. 

They gave us the option to test us both to see which one of us had the gene, but we declined. We didn’t need to know. 

So, what exactly does this mean for baby Leo? Well, like I said before, he will not see any CF symptoms as he is only a carrier. However, when he gets older this will have to be something we will need to talk to him about because if he has any children they will have a risk of being born with CF. 

Of course for that to happen his significant other will have to have the gene as well, but they might not know that they have it, just like we didn’t know that one of us was a carrier. 

Thankfully, our story has a happy ending with just a slight risk in the future, but it makes me think about the others that had to sit in that same room and hear the opposite…

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