Sharing Our Story | Cystic Fibrosis Scare

Dustin & I received some amazing news today that I wanted to share. But in order to share this, I thought I would finally share the story of Gavin's health scare. Some people know, some people don't, but while it's still somewhat fresh in my mind, I figured I would write it down and try to get the details just right. Just a warning: this is very honest. I'm not going to hide how scared I was. So here goes...one of the most horrible 2 months of my life...

Gavin Lee was born on March 14th, 2014 via a successful (and beyond amazing) VBAC (vaginal birth after cesarean). He was a perfect 8lbs 3oz, 21.5 inches long. 

One day I'll share his birth story, but we'll save that for later. When Gavin was 4 days old, he had his first check-up with his pediatrician. His biliruben levels were extremely high...aka...he had a pretty bad case of jaundice. Off to the hospital for blood tests, and then a home health company brought us his little light bed. I was devastated that I couldn't hold my 4 day old baby, but there's also no reasoning with a new mom. Your emotions are all over the place...I would have cried over a stubbed toe. ;)

Enjoying my 1st day on the light bed.

At 5 days old, we headed back to the hospital to check the blood levels again. His levels needed to be under 12 in order to get off of the light bed...when we started, they were at 19. After a full day on the light, the 2nd blood test showed the numbers dropped to 17. So another day on the lights. 

Look at my champ sleeping through the foot prick. 

 After each blood test, we had to go back to the pediatrician's office to discuss the blood levels & give him another exam. Like I said, this was day 2 of Jaundice, but our 1st time seeing our actual pediatrician. When he walked in, he immediately asked us to sit down and talk. Cue heart dropping into stomach and panic mode setting in.

"Well, everything else on his initial newborn screening came back good, but there was an abnormality we need to discuss. The newborn screening now tests for diseases that we didn't use to test for, and we now screen for Cystic Fibrosis. It appears that Gavin tested positive for 1 genetic mutation of the disease. "

Excuse me? What are you saying? Am I hearing this right?

I looked at Dustin, and he seemed to be processing about the same as me...not at all.

He then went on to tell us that the good news is, it is only showing one genetic mutation. He felt very confident that it was either a false positive or Gavin was just going to be a carrier. 

Now before I go any further, I'm going to attempt to explain how this all works. I understand it completely, but trying to explain it can be a bit tricky.

First of all, Cystic Fibrosis is a life-threatening disease that affects the cells that produce mucus, sweat & digestive fluids. In a normal person, these fluids are all thin & slippery, but in someone with CF, the mutated gene causes them to become thick and sticky. So instead of acting as a lubricant for ducts & passageways, it ends up causing blockages in areas like the lungs. It blocks the tubes that carry air into the lungs, which ends up affecting your ability to breathe normally. It also blocks tubes that carry digestive enzymes, which leads to a whole other ballpark of digestive issues. People with CF have a much greater quality of life than previous decades, but it is still life-threatening with a life expectancy of about 40 (a dramatic increase from even 20 years ago). 

In order to be diagnosed with CF, you have to inherit one mutated gene from your mother and one from your father. So my immediate thought was...Christian doesn't have CF or a gene mutation, so there is no way Gavin is going to have the actual disease, right?! Well, the doctor read my mind. Here is where it gets "science-y"...each person has 2 copies of the gene. IF both of us had a mutated copy, our Punnett Square, or potential offspring...would look as follows...

The small f is the mutated gene. So 1/4 of our children would be completely healthy, inheriting 2 healthy (FF) genes. 2/4 of our children would be carriers (big F, little f) and 1/4 of our children would have the disease (ff). I hope that makes sense. So Christian could be our healthy child, and Gavin was either a carrier of the disease or had the disease. IF Gavin was just a carrier, the only thing we would have to worry about is whether or not he marries and has children with a carrier. 

That concludes your CF science lesson for the day. Back to the story...

So the doctor told us that he felt very confident that Gavin was just going to be a carrier. HOWEVER. Excuse me? There's a however? There is some new science showing that it is possible to only have ONE mutated gene, and still end up with a mild case of CF. This is because the CF gene is constantly changing, and there are mutations for which they can't even test. 

The next step, after processing all of this information, was to head over to Kosair's Children Hospital in Louisville to have a salt chloride...aka...sweat test done on Gavin. People with CF have a high salt count, so this tests the level of salt in your sweat. Normal people will have a salt count less than 25. People with the disease will have a salt count higher than 60. 

So we took our 7 day old baby off to Kosair's to have his sweat test. They hooked him up to an electrode for 5 minutes (the longest 5 minutes of your life) which caused his sweat glands to start overproducing sweat, and then had us bundle him and wait for 30 minutes. If they collected enough sweat the first time, then we just had to wait for them to send the test off. Thank GOD she got enough sweat the first time, because I think I would have lost it if we had to repeat the test again. She told us she should have the results back the following Tuesday. More waiting.

In the meantime, Dustin and I were upset, but our doctor felt so confident that he was just a carrier, that we honestly weren't too worried about it. We were also waiting on the results of his latest Jaundice levels. This was Friday, March 21st. The good news, we were cleared of Jaundice! His levels were at 11.7...no more light for us! We got home about 1:30pm from the hospital when Dustin's phone rang. It was the pediatrician. Dustin answered it, and I knew immediately, it wasn't good news.  

Dustin was on the phone for a good 20 minutes with the doctor, and the entire time, I just held Gavin and cried. I prayed. I cried. I prayed. How am I going to do this? How am I going to raise a child that is so fragile? What will this do to Christian to have a sick brother that constantly needs our attention? How am I going to possibly bury my son before he turns 40? How is this happening to us? Angry. I was so angry. It was hard enough that we tried for so long to conceive him. Now he was sick? After all that work getting this sweet baby here with us, and now he's sick? Those are just faint hints of the thoughts crossing my mind. I was devastated. I was devastated for Gavin. As a mother, all you want is your child to be healthy and happy. I was so sad thinking of all of the things he was going to miss out on in life. Constantly watching his healthy older brother do things he isn't able to do. He can't have children. He can't play sports. Constant doctors visits, hospital stays, avoiding public places to avoid things like the common cold...common things that could kill him. A whole life I envisioned for my brand new baby suddenly left. I was sad for my husband. I was sad for Christian. I was sad for myself. My family. All of these thoughts before Dustin even got off of the phone with the doctor.

Once he finally hung up, he lost it. To watch my husband, my brave, tall, handsome, strong husband bawl like a baby in our kitchen, nearly killed me. He finally walked over to me and told me the news. He started with: it wasn't as bad as I was thinking. His sweat test wasn't over 60. Ok.... However, it wasn't under 25, either. His results were inconclusive at 37. The doctor told him that we all needed to step back, and start looking at this from a different approach. It is possible that he has CF, but we just don't know yet. 

We needed to make an appointment with a Pulmonologist. They usually take a couple weeks to get in, so we called right away. The first available appointment they had was April 8th. So until then, we wait. He gave us symptoms to look for...no weight gain, excessive crying, salty skin & to keep an eye on his stool. And oh we did. I've never talked about & examined poop so much in my life.

The morning of April 8th came, and we walked into the Pulmonology office. It was gut-wrenching. All of the children had face masks on. Was this our future? I just wanted to pick the brains of all the other moms in the room, but I didn't. I sat quietly, holding my almost one month old baby. When we were called back, the nurse said his oxygen levels were fantastic. A good sign. His weight gain was also great. Another good sign. She also said he was the cutest baby she's seen in quite some time. Well, duh. ;)

The first thing the Pulmonologist said when he walked in was, "Well, what are you doing here?" Um, hoping for you to tell us this is all a bad dream and our baby isn't sick?! We told him Gavin's story, and he started with, well, here in Kentucky, we do things a little differently.

Apparently, in Kentucky (we live in, gave birth in & see our Pediatrician in Indiana), they don't do sweat tests on babies that young, because they can be faulty. The earliest they do a sweat test is 2 months old. They also immediately repeat the screening to make sure there isn't a false positive. So he told us he wanted us to set up a second sweat test for 2 months old and to have a full genetic test performed, to look for a second mutation. The initial newborn screening only tests for the 40(ish) most popular gene mutations. The full gene sequence tested for all 1600 genes. That test took 6-8 weeks. So that's right, more waiting. 

We went to have his bloodwork for the genetic testing done that same day. We set up the 2 month follow-up and sweat test for May 13th. Three days before my birthday. That was the day we would FINALLY have the answers. This was either going to be an amazing or devastating birthday for me. 

The weeks before his 2 month sweat test dragged on so slowly. It all started to feel like a dream. We had his stool tested once, and it came back that he digesting his nutrients properly...another great sign. All of these great signs, no family history that we're aware of...we started to let ourself feel optimistic. We researched until we were blue in the face. We talked about how we would handle life if he was sick. Science is so amazing. There is so much for kids with CF, that it just isn't the death sentence it used to be. Life would be hard, but we would be okay. Our family would be okay. I would be okay. 

Going into our second sweat test, I was nervous, but held it together. No matter the outcome, we were going to get through it. Immediately after our sweat test, was the Pulmonology appointment, where we would hopefully have the results of the test waiting for us. We still hadn't received a phone call about the genetic testing, but it had only been 6 weeks. 

Sweat, baby, sweat!

The results weren't in at our appointment, so the doctor talked to us about everything we had already researched. He made us feel more at ease that no matter the outcome, Gavin would be okay. He was mid-sentence when he looked down at his computer and said, "Well, I have a genetic testing result here. It's been back since May 1st (2 weeks ago!!!!)...have they not called you on this?" Umm, no. Obviously not. Oh my God. This is it. What does it say. WHAT DOES IT SAY?

After what felt like an eternity, he read through it silently to himself and then told us, the full genetic testing of 1600+ genes only showed ONE mutation. 

Excuse me while I do a happy dance and cry and sing and hug you.

"Are you sure?! So he only has ONE mutation?" 

"Yes, I'm sure. A mutation on the most popular gene...Delta F508."

Try to remember, you're still not in the clear. We still need the sweat level to be below 25, but this.is.HUGE.

So we left there half excited that he only had one mutation, and half nauseous because we knew at any minute we would be getting the call on his sweat levels. 

We were at Target when we got the call. Did I mention I LOVE that store? Sweat level was 16. SIXTEEN. Did I mention that's my lucky number?! SIXTEEN, you are fabulous. That was it. After 2 months, Gavin was completely cleared of having Cystic Fibrosis and we could start enjoying life with our new baby.

I know not everyone's CF story ends like this, and my heart pours out to those parents. This incident raised so much awareness of the disease to our entire family. We have started donating to the foundation and I still keep up with a couple blogs of CF moms. 

However, our journey didn't quite end there. We also had to figure out who the culprit was behind the mutated gene. Was it me? Was it Dustin? Or was it the more problematic option...both of us? Like I said before, there was a chance we were both carriers and Christian was our 25%, Gavin was our 50% and if we have a third, he could end up our other 25%...with the disease. Did we want to take those chances? Would we be okay stopping at two boys and Gavin being our last? We've both always dreamt of a big family. We decided we needed to get tested. I was going to go first, and if I was clear, then we knew Dustin was the culprit and he didn't need to be tested. 

Last week, I got my test results back. I couldn't believe it. It was me. This mutation has been passed down in my family for years without us knowing. Sneaky little CF gene.

I immediately called my parents to let them know that somewhere in our family, there's a CF gene floating around. Let the family testing begin.

So now, we had to have Dustin tested as well. This was it. If he is a carrier as well, we've played with the odds twice, and we were done. Gavin was it. Was I ready for Gavin to be it?! 

Today, we got that answer. Gavin doesn't have to be it. Dustin is not a carrier. We are in the clear. No CF for this family. 

So I'm a carrier of the disease. Gavin is a carrier of the disease. We will have to tell him when he's older and he'll have to tell his wife. And that's it. Our CF journey ends there, and I couldn't be happier. I'm so thankful it ended this way. 

Gavin, you are an amazing miracle, and we love you more than you'll ever know. We worked like hell to get you here, and went through hell during your first 2 months, but you are worth every.single.second.

Thank you so much for reading. I debated on sharing this story, but before this scare, I didn't even know what Cystic Fibrosis was. I would love to bring awareness to this disease and hear other people's stories. 

For more information on Cystic Fibrosis, visit their website here.

To donate to the cause, visit here.