Our CF Story

Bryce Jones was born on July 22, 2008. He was a sweet tiny little baby weighing in at 6lbs 8oz. He was our smallest baby, which isn't saying much since all my babies were under 7lbs. He was a skinny baby...like real skinny, but we didn't think much of it. He also spit up all the time as in he would eat and then projectile said food across the room! He also had very foul smelling poops, especially for a baby who was being nursed. I had quietly wondered to myself about these things, but never put a whole lot of worry into them. I figured it was because he was a boy and I was use to having girls.

 Long and skinny!

On Monday August 11, 2008 I received a phone call from the front desk of our Pediatrician's office that would start us on a journey of why Bryce wasn't gaining weight, would spit up all his food and had foul smelling poops. It is a journey that has forever changed our life and outlook on life. During that phone call I was told that I needed to call Children's Health Care of Atlanta (CHOA) and make an appointment for Bryce to have a sweat test. I was told that his newborn screening test showed that he had high IRT levels. I asked what a sweat test was and was told it's a for Cystic Fibrosis (CF). I then asked what CF was (I had heard of it, but had no idea what it was) and was told that when I called Children's they would answer any questions that I had. I was a little confused when I got off the phone since I didn't really know what the girl was talking about. The phone call came in around 4:20 and by the time I helped Jordyn in the potty and got settled to call it was a 4:45. Well...no one was answering the number they gave me so in the mean time I decided to Google CF. After reading about CF I started to panic and ended up leaving a few messages at any number associated with cystic fibrosis at CHOA.

  The first of his breathing treatments. He was about 3 months old.

The next day I received a call back from the lab to set up the sweat test. The appointment was made for Friday August 15th at 9:00 am. At this point after talking to my mom, my dad and Bryan's mom I started to feel a little better since no one knew of any family history with CF. Around lunch time I was sitting in line at the bank when I received another phone call from CHOA. This time it was from a pediatric pulmonary nurse who worked along side a GI doctor that specialized in CF. She was chatting me up and talking to me in what seemed to be a foreign language saying THREE times in our conversation that "they suspect Bryce's results will be positive". I couldn't get past this statement because I was like why in the world would this lady tell me this. She had said some other information about his DNA and that I am a carrier of CF and blah blah blah. So I get off the phone with her and the conversation we had starts to sink in. Again I start to panic. At this point I wanted to know how they knew all this information and how she knew I was a carrier because I have never been screened for CF and neither had Bryan. I didn't understand the genetics of CF at the time so I was VERY confused about how they had all this information about us when we had never had any testing done. 

Bryce received his vest when he was 11 months old. 

Bryan and I were thrilled that we didn't have to do hand CPT anymore!

From there I called the pulmonary nurse back and left her a pretty aggressive voice mail because I just wanted someone to explain to me what in the world was going on. I didn't hear back from anyone until Wednesday when the nurse called me back to apologize. She said somehow a step in the communication chain was skipped. Normally when people talk to her they have been briefed by their pediatrician already. Well...I never received a call from an actual doctor. The call I got was from one of the front desk workers, who couldn't answer any of the questions I had anyway. After much apologizing the nurse said that our doctor was supposed to call us and explain to us what was going on so we could ask questions. She then got off the phone with me and called our pediatrician's office to tell them they needed to call "a very panicked mother". Within 15 minutes the phone rang and it was our doctor's office. This is the where I finally got some sort of information as to what in the world was going on. Interestingly enough I was talking to a doctor I have never even met; our regular doctor didn't even call! Actually I never heard from her during this whole process one time. Needless to say we don't see her anymore!

What I learned in the phone call with the pediatrician was that after newborns are screened in the hospital - heel prick test - the blood is sent out for all sorts of test - one of those being for CF. It wasn't until January of 2007 that they started testing for CF, which I think is crazy since approximately 10 million people are carriers of the CF gene...90% of carriers don't even know they are carriers. The IRT levels on Bryce's test came back elevated with 2 abnormal genes. If it had come back with only 1 abnormal gene then there wouldn't have been such a fuss made, but since there were 2 the red flags went up.

On Friday August 15th Bryan, Bryce and I headed to Children's for his sweat test. The test isn't painful and took about 45 minutes to complete. I was really nervous that the test would hurt him, but it was pretty harmless. He actually slept through the majority of it. Once we finished up with the sweat test we headed across the street to meet with Dr. P who is the GI doctor for the CF care team at CHOA Scottish Rite. The pulmonary nurse I spoke with on the phone was also at the meeting. You know something is up when a doctor and a nurse who don't normally work on Friday want to meet you it's probably not the best news. We knew this information going in, but at that point I just wanted to talk to someone face to face and have them answer questions.

 Darth Vader likes to do the vest too!

Bryce ended up not sweating enough to get results because he was so skinny, but even without those results they were 95 to 98% sure he had CF due to him having those 2 abnormal genes. He was officially diagnosed a few weeks later after the stool samples we collected were tested and showed what we had feared. We ended up going back for a 2nd sweat test a few weeks after the firs one for insurance purposes. The 2nd sweat test resulted in a positive test, which meant we knew with 100% certainty that Bryce indeed had cystic fibrosis. Bryce's gene mutations are DeltaF508 (most common mutation) and G551D (rare mutation). He is considered pancreatic insufficient meaning his pancreas does not work; therefore, he has to take synthetic pancreatic enzymes before he eats food. This will be ongoing for the remainder of his life. He started taking enzymes when he was 6 weeks old and within a week we could tell they were working as he started to fatten up and not look so skinny. It took Bryce 3 years to reach 50% BMI and is currently holding steady at 65% BMI, which is excellent for someone with CF. This has not been without a whole lot of continued work as he is not the best eater.

Oh you know...blood draws. No big deal.

Bryce is 9 years old now and is thriving despite the horrible complex disease he has. He is very compliant with his treatments and medications. We make sure that his CF is top priority so that one day when it's time for him to take control of his care he will continue to feel the same way. So far Bryce has shown a mild case of CF. Most of his issues thus far have been GI or sinus related. He has had very little lung issues. The disease can turn on you without notice so we never let our guard down. No two cases of CF are the same and no two patients will have the same care plan. As time goes on you figure out what works best and go with it. We are so thankful that Bryce is on minimal medications as far as CF goes. If you can believe it, his minimal is taking at least 15 to 20 pills a day. He does breathing treatments, nasal rinses and nasal sprays as needed. There are times where we can go months without these treatments and other times we do them numerous times per day. Two days after his 6th birthday he started on a new medication called Kalydeco. This is the closest thing we have to a cure right now...note that it is NOT a cure, but it is definitely a game changer. The fact that this drug works with his rare mutation is pretty amazing since there are over 1600 CF mutations. We like to look at it as winning the CF lottery!

 Kalydeco!

That little bottle of 60 pills contains one month of medication. 

It comes with a price tag of over $26,000 per month. Yes, you read that correctly. 

You would never know there was anything wrong with Bryce by looking at him, but his insides can be a mess. CF is considered an invisible disease since all the damage it does is inside the body. Bryce is fully aware that he has CF. He knows he is different from others in the fact that he has to do vest treatments daily and take medications, but other than that he is just like any other kid. Despite all the extra stuff he has to do to maintain his health he is the happiest kid I know. He always has a smile on his face and never...not once has he felt sorry for himself. That's not how we roll around this house. It is what it is and we deal with it head on. We aren't shy about Bryce having CF. If anything we are pretty forthcoming and upfront about it.

Bravest boy I know.

Just a little history on CF: 

When 2 carriers of CF have children they have a 25% chance that the child is not affected at all, a 50% chance that the child is just a carrier and then a 25% chance you will have a child with full blown CF. It took us 9 months to work up the courage to have the girls tested as we were told there could be a small chance they had CF too. The results were interesting to say the least. Sydney is a carrier of the DetlaF508. The DeltaF508 gene came from me. The only reason we know which gene came from who is because Bryan's siblings both got tested and are both carriers of the G551D mutation. Test results showed that Jordyn is a non carrier. And Bryce, well the cards weren't in his favor as he has CF. I find it interesting that we have one of each.

 

Bryce is a darn good keeper!

There is so much more to cystic fibrosis so if you would like to learn more please visit the CFF.org website. 

Each year we head up a team at the Atlanta Great Strides walk in honor of Bryce called: Team Bryce Bryce Baby. Our fundraising efforts for this are on going so if you would like to donate or join our team we would love the support! You can click HERE to find our walk page.