We went back and forth about drafting this post and sharing our story dozens of times. One moment it felt too intimate, too personal, and the next moment it was real, it was us, so why hide it? Once we came to the realization that our story and our journey could help others, raise awareness and possibly be the place where someone feels comfort in an otherwise confusing and frightening reality, we knew that it was our purpose and that we had to share.
When we found out we were pregnant with Carmine, we were over the moon excited, like all parents are! We definitely thought we were having a girl because I craved fruit and felt nauseous, which are apparently signs of a girl! So when we learned at the first visit that we could do a blood test to find out the gender at only 10 weeks, we immediately decided that we’d do the test and end the guessing game!
The doctor informed us that the test to learn the gender was “bundled” with some other tests – down syndrome, cystic fibrosis, and other disorders. We told the doctor that we didn’t care to learn if the child had Down syndrome (we didn’t know what the other things were), because it wouldn’t change anything for us.
I remember having my blood drawn for the test while Oliver and Freddy played around in the doctors office trying to keep me distracted so I didn’t pass out. It was in September, and we were heading out that same week for our anniversary celebration with our family.
The weekend of celebrating was perfect, and on the drive home, I got a call from the doctor’s office. The nurse said that she had the test results, and I immediately told her not to tell me the gender! I explained that my mother would be in the office this week to pick up the results so she could plan a reveal. The nurse understood, and assured us that the other tests turned out negative- meaning we were in the clear.
Phew! Not that I was really worried, but as an expecting mama, you always have a little voice in your head worrying that something is wrong.
It felt like weeks passed, and I received another phone call from my doctor’s office while I was at work. The nurse said that I needed to come into the office to talk about some test results, and asked whether Freddy and I could come in the next morning, as he would need to have some blood drawn as well. My heart immediately began pounding so loud it drowned out the voice on the phone and my mind starting racing with every horrible thing imaginable.
You never have to come into the office to discuss good news, only bad.
The doctor briefly explained on the phone that I had tested positive for being a carrier of a rare genetic disease and that we needed to rule out the possibility of Freddy being a carrier as well. I was in such shock, that I didn’t even write down the name of the disease. I knew I had never heard the name before, but for some reason I just sat, frozen on the phone. Disbelief.
The next day, as I sat on the exam table and Freddy sat nervously in a chair by my side, we learned how rare this disease is, and how unlikely it was that Freddy also carried this rare gene because of his ethnicity. While 1 in every 29 Caucasians carry this gene, only 1 in every 46 Hispanics carry this gene.
The disease is Cystic Fibrosis. Don’t google it. It will only scare you.
I remember my heart sinking and my world collapsing on me when our doctor very delicately said that people with this disease often don’t live beyond their 30’s, and that they need lung transplants and constant care to stay healthy, and alive.
At that moment, thirty years of my unborn child’s life flashed before my eyes. I saw him in pain. I saw him suffer. And I felt completely helpless. Why? What had we done?
I know my face revealed the horror that I was feeling, because our doctor quickly tried to reassure us that Freddy would not likely be a carrier of the gene and, therefore, our child would not have the disease. You see, in order to be born with cystic fibrosis, both of your parents must be carriers of the gene.
We were also reassured by the fact that Oliver didn’t have the disease – even though there is a 1/4 chance each child born to parents who are carriers will have the disease, we figured that Oliver’s excellent health was a good sign.
Everything else the doctor said was kind of a blur, and I kept having to stop myself from thinking of the horrific tragedy of losing my child I hadn’t even met yet.
After our talk with the doctor, the nurse drew some blood from Freddy and we sent it off with our good vibes.
That’s what we decided. We were not going to think of the negative. We were going to put only good thoughts out into the universe. We were not going to worry ourselves over something that is nothing. We were fine.
Admittedly, we googled. And we cried.
But then we returned to our vow to stay positive and not put negative energy into the world.
So in a positive direction, we planned the “we are pregnant” reveal photo shoot with my sister! We found the most perfect little cactus track suit for Oliver, and decided on a succulent/cactus theme! Truthfully, I had let the worry slip away and barely thought of the “what if.”
That is, until my phone rang again. It was the nurse. Only this time, she didn’t have the doctor there to speak to me. She just wanted us to come in the next morning to discuss results. I died. Literally, part of me died. I recall nervously joking with the nurse that we all know what this means don’t we…. I prayed she’d say I was wrong, but she didn’t. She just agreed by her silence.
Panicking, I asked if I could speak with the doctor and explained how my night would be an eternity without the opportunity to speak with the doctor and learn what she needed to tell us. Although I knew – I knew it wasn’t good – somewhere in my naivety, or positivity, I believed she just wanted to tell us the good news in person.
After making an appointment, and I believe calling back after speaking with Freddy and my mom, the nurse informed me that the doctor would call me after her rounds.
I was relieved that the doctor would be calling, but even more devastated because if it were good news, she would have let the nurse tell us then. No need for the call, right?
On the ride home, Freddy and I discussed the inevitable news we were going to receive. Freddy wanted to cancel our reveal shoot. At first, I agreed. No way could we pose and pretend to be happy with this looming. But then I was angry and disappointed with us. Even if Freddy is a carrier, and our child does have the disease, he is still our child. We are still so blessed. We are still so excited to share our news. I insisted that we do the shoot.
When I got home, we scurried around the house to get prepared for the shoot- both on the verge of tears and wanting to scream with anger. Then the phone rang. We stood in our closet with the phone on speaker while our doctor explained that Freddy is one unique fellow! With his heritage, it is crazy how he is a carrier. A million questions raced through our heads, but we just listened and soaked it all in.
Options. She wanted to discuss the next steps.
We knew the next step – to test the baby to see if he actually had the disease. This can only be done by having an amniocentesis, i.e., sticking a large needle into my stomach and taking out some amniotic fluid for testing. Ever since I can remember, this was the ONE test I vowed never to have done. It can lead to complications, including miscarriages, and my family experienced this first-hand when I was growing up. My immediate response was No!
And this never changed. No matter how many people told us that the statistics were better now, and how common the procedure is, I didn’t budge. And honestly, the result wouldn’t change a thing. This was our baby and in the end, it didn’t matter – we just loved him.
We had two choices: do a procedure that could put our unborn child’s life at risk for the opportunity to have 6 months knowing our baby has a disease that we cannot prevent or help in any way, or do nothing and go 6 months not knowing whether he does have the disease, while staying positive and praying for the best – we chose to pray.
The days and weeks passed, and eventually we barely googled it, barely discussed it, and mostly just prayed. It was easier that way. When I would talk about it I cried, and then I felt guilty like I was putting bad energy into the universe.
I remember one discussion I had with a friend about it, where she said that if our baby did have it, there was no better family to handle it – with all of the love of our family and friends, the child would be so cared for and surrounded by love and we would be so supported in our journey. This could not be more true.
It’s like my mother always said when life was rough: “God never gives you more than you can handle.”
As some of you may know from our post, I had a c-section with Carmine. Not only was the decision based upon the fact that I had already had one with Oliver, but it was also based upon the advice from my doctor that it was best to have the scheduled surgery so that we could ensure that all the necessary doctors and nurses were working in case the baby needed extra attention at birth due to lung complications associated with CF.
The day came to have our little Carmine, and everything was seamless. Our beautiful little boy came out breathing perfectly and there were no signs of anything being abnormal – he was eating great and thriving! And this didn’t change! We took that as a very good sign that he did not have the disease! No NICU for him, no lung problems, nothing.
For any parent reading this, you probably remember that your baby had a PKU test done at the hospital. It’s the test that requires the nurse to scrape the bottom of the baby’s heel and place blood on a piece of paper with little circles on it. This test looks for several abnormalities, including CF.
In addition to the hospital PKU, the pediatrician’s office normally does another test at the one-week check up. Well, lucky Carmine got three of them!
After our one-week check up, where he was gaining weight and looking super healthy, we got a call that the PKU results came back “inconclusive”. I wasn’t quite sure what that meant, but I stayed positive and chalked it up to the nurse possibly not getting the blood in the circle correctly.
Per the doctors request, we were back at his office the next morning for another heel scrub. Needless to say, Carmine did not like me for that one! The doctor said he’d call with the results, but remained positive given Carmine’s growth. You see, CF patients have difficulty gaining weight and maintaining a healthy weight due to their inability to absorb the nutrients from their food.
It was two weeks after Carmine was born, and Freddy had gone back to work. Therefore, Oliver was at school and I was home with Carmine recovering and just loving our time together.
On a Wednesday morning, I got a call from the doctor saying that the PKU results came back, and the CF gene was showing up.
Since we knew we were carriers, this was not a huge surprise. As the doctor put it, this confirmed what we already knew. The question now, however, was whether he actually had the disease, or whether he was simply a carrier like Freddy and I. To make this determination, it was necessary to have a sweat test done. The doctor said to come by his office to pick up a packet that would explain everything, including the test results and how to schedule the test. He still remained positive and hopeful that everything was fine.
Luckily, I had just received the ok from my doctor to drive, so after attending Oliver’s chapel performance at school (where he played the part of the sweetest Jesus ever), I headed straight to his office to get these documents.
Once they were in my hand and I was back in the car, I immediately called the Hospital to schedule the sweat test. Not sure how it happened, but I got the sweetest hospital employee on the phone who walked me through the test and even spoke to me about the “what if!” With her, this entailed telling me how her daughter has severe asthma and sees Dr. Nakamura (the pediatric pulmonologist Carmine would have IF he had CF), and how she absolutely adores the doctor and would follow him anywhere! What are the odds?
Although I obviously still remained positive, there was comfort in knowing that even with the worst outcome, we were in good hands.
Luckily, we were able to get in first thing the next morning. I didn’t see any point in prolonging this (any more than it already had been) and wanted to finally know one way or the other. Freddy was still working (and after reassuring him a million times that he didn’t need to take off work), so my mom and I went to the hospital for the sweat test together.
When we arrived, the sweet hospital employee welcomed us and even chatted with us for a bit. She was really awesome and eased both of our minds – or at least made us laugh for a bit in this not so lighthearted time.
The sweat test was painless, and Carmine just seemed annoyed by us if anything. The nurse prepped his skin and put a small device on his arms that caused him to sweat. She then attached a circular tubing that collected his sweat. The sweat would then be tested for salt.
People with CF sweat out salt, so the test is a very accurate way of determining whether a person has CF or not.
I recall kissing Carmine’s forehead before knowing whether he had CF and tasting salt on my lips, yet ignoring it because I didn’t want to put any negativity out there.
The test was roughly an hour in total, and the nurse told us that they would receive the results that same day and inform our doctor.
It was later that Thursday afternoon and I was nursing Carmine in bed. The phone rang and it was our doctor.
This phone call was supposed to be the one that left us relieved and thankful. However, the moment the doctor spoke, I knew it was not the case. He said the test was positive for CF, and that he had spoken to Dr. Nakamura’s office, who would be contacting us.
My heart sank and I just listened as he spoke and my eyes welled up with tears. When I finally had to respond to his information, my voice cracked and I couldn’t control the tears.
We hung up the phone and I just sat there for what seemed like forever. I held Carmine so tight and tried to gather my emotions before calling Freddy and my mother.
After making those calls, which were the hardest phone calls I’ve had to make, my phone rang again.
This time it was Dr. Nakamura’s office calling to set up our appointment. The woman on the phone was very nice and after scheduling us for 10am the next morning, she informed me that the doctor said “please do not google it! We will discuss everything tomorrow.”
Easier said than done. Being that I had already googled it a million times since we learned of the possibility, I was able to refrain for one night. My mom and Freddy, however, were researching the internet like kids drafting a research paper at 2am the night before the due date!
There was definitely a reason he said not to google – the internet is filled with devastating information.
Thankfully, the next day provided a much more uplifting picture of our future.
From the moment my mom, Freddy, Carmine and I arrived at the doctors office, I had a good feeling. The walls of the waiting area, every hallway, and each of the patient rooms were covered from floor to ceiling in artwork. Whether it was a Mickey Mouse painting or a abstract colorful canvas, it created such an interesting and bright environment.
We saw the nurse first and she was super informative and truthful.
“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. In the lungs, the mucus clogs the airways and traps bacteria leading to infections, extensive lung damage, and eventually, respiratory failure. In the pancreas, the mucus prevents the release of digestive enzymes that allow the body to break down food and absorb vital nutrients.”
Well, that sure is a mouthful. And is definitely a hard reality to face. We listened as she explained the disease to us and millions of questions raced through our heads – will he live a normal life? do we need to seclude him so he doesn’t get sick? can he attend normal school? can he even be around his brother?
We were mostly quiet and listened, until she explained his treatments that would begin immediately. He would need to take an enzyme pill before every meal. I asked how long this would be necessary, and her answer was short: “his entire life.” I don’t know why this hit me so hard, but the tears just wouldn’t stop after receiving that answer. I think it was the first time it hit me.
I had just been going to the appointments and doing the tests and showing up when I was told to, and that was the first time it was real – my son has a disease that will not go away. A disease without a cure.
Ugh. Even typing it now is difficult to do without tearing up.
After the nurse was finished with us, it was time to meet the doctor. He is incredible! Although he deals with children battling a chronic illness every day, you would never know it! He was positive and bright and exactly what we needed!
He reassured us that Carmine would live a normal life, and said to let him run outside with his brother and play soccer and enjoy his childhood! This was shocking to us as we envisioned having to keep him in a bubble. He also explained why he advised us not to google the disease. The statistics found online stating that CF patients only live to their 30’s are outdated. Those patients diagnosed in the 70’s and 80’s didn’t have the benefit of the advanced research and medicine that those diagnosed now have. He actually said that Carmine was lucky to be born when he was and to be diagnosed so early (2 weeks), because his body will begin benefiting from the medicine and it won’t be playing catch up!
In fact, he even said he’s hopeful that they will find a cure in his lifetime! AMEN!!!!!
I will make sure I do everything in my power to help that happen!
So for now, we do 1 1/2 enzyme pills before every meal, sneak salt packets into his diet, give him a multivitamin every day, and do a breathing treatment with chest pounding 1-3 times a day (depending on how his lungs are doing).
Being the to-do list type of person I am (maybe controlling), when we left the doctor’s office I needed some way to take back control of this. So I organized it all. I bought a vitamin tray which helps us divide the enzymes for his correct dosages. I stocked up on apple sauce, which helps him take down the little capsules, and I got a wipe off board for the pantry walk where I keep track of whether Carmine received his correct treatments each day. For me, it helps to feel in control. The disease is not running our lives, we are running it.
And honestly, I can’t imagine going through this without family and friends. We tried to keep it hush until we knew more information so that we could answer people’s questions, but once we started telling family and friends, the support was so incredible!
My bestie Amanda brought over homemade applesauce and even bought small containers so I could take them on the go! Everyone who knew was constantly checking up on him, making sure we were ok and bringing food to comfort us. My sister came with me to one of his doctor’s appointments so she could learn more and constantly sends me information she finds on people living normally with the disease.
Our village is amazing! We think of this disease as a minor inconvenience and something totally manageable. At first, it was devastating and felt like the end of the world, but now I know that we can handle this. Our precious little one (who is currently napping in my arms) will be healthy and happy! His life may not be just like everyone else’s, but that’s because he is special and meant for greatness.
With only 30,000 people in America with the disease, I’d say they are more than special!
So you may be wondering why this post is called Sixty Five Roses. Well, when doctors explain the disease to children, it’s easier to say 65 Roses, as opposed to Cystic Fibrosis. This is what we’ve taught Oliver, and he is such a big help when his brother does his treatments. That’s him below holding Carmine’s Nemo nebulizer.
If you search #sixtyfiveroses on Instagram, you can explore other strong CF patients’ journeys.
May was CF Awareness month, and it was the goal to get this posted during that month. Life happens, and that post didn’t happen, but I hope that this post helps educate anyone who has never heard of CF (like us) and helps give hope to other parents dealing with a diagnosis. If you’re thinking of having children, I recommend getting tested so that you can determine whether you are a carrier. Knowledge is power.
For more information on CF, visit the website for the CF Foundation whose mission is beautiful: “We will not rest until we find a cure!”
I know that one day Carmine will be featured on that website for making history as the healthiest CF patient ever!