June 16, 2011 was one of the happiest days of my life.
It was the day my beautiful daughter, Anna Rose, was born. She was (and still is) the most beautiful and perfect little girl I could ever imagine! I may be a little biased but what mom isn’t?! Anna was alert, happy, nursed well from the start.
Looking back, the only clues that Anna might have cystic fibrosis we had at birth were the presence of meconium and she was still going to the bathroom after she was born. That started the trend of Anna going to the bathroom A LOT.
I can distinctly remember the moment the next day when the nurse came to take her for her newborn screening. She told me, “we’re going to take Anna to get her newborn screen, its just a heel prick and we’ll get some blood to screen her for a number of conditions. Don’t expect to hear any result because they only tell you if they find something. No news is good news!” and I thought, OK great! Why would anything be wrong with her?
I had not one reason in the world to be concerned. My husband and I have no family history of any kind of genetic conditions and we have a supremely healthy 3 year our son (Jack). Our first week with Anna was a good week for the most part. She went to the bathroom constantly which concerned me but anything I looked up about it said that going to the bathroom after every feeding was normal in a breastfed newborn. I thought that things seemed different than when I had Jack because I couldn’t remember him going that much but I brushed it off.
I remember about 5 days after she was born my grandparents visited and within an hour I had changed her diaper around 5 times and she would constantly go AS I was changing her. Also, while she was going she would make a grunting sound. Her stool was very liquidy so it seemed strange that it was causing her problems. A couple of times her stool was completely liquid and it seemed endless, I would go through diapers just having to put one after another underneath her. I tried to look up information about the noise she was making while going and the consistency and everything else that was concerning me and webpage after webpage assured me it was all normal newborn issues.
A week after her birth we went in to the doctor for a weight check. Anna was a very big baby when she was born weighing 9lb 7oz. A week later she weighed 8 lb 3 oz. To me, this was very concerning because Jack (who was 9lb 2oz at birth) lost maybe a few ounces in the hospital but started gaining pretty much right away and was back to birth weight very quickly. I wasn’t used to a baby losing weight. It shocked me and made me feel like something was wrong with my milk and my nursing. The pediatrician told me everything was normal, I even explained to her everything about Anna’s bowel movements and stomach issues and she said it was all typical and gave me a speech about how baby’s stomachs work, emptying right away when full. I left feeling OK and obviously trusting a pediatrician knows best.
At 4 o’clock that afternoon a call came from my peditrician. I considered not answering thinking it was an appointment reminder but at the last second I did and was surprised to hear our doctor on the line. She told me she had some news about Anna’s newborn screening. She said that it came back saying it was possible that she had cystic fibrosis.
That feeling I got as soon as she said it is one I’ve felt before but not many times. It was complete paralysing fear, a wave of shock washed through my body and everything tingled. I felt lighthead for a split second and my felt my breath completely leave my body. It was without a doubt the worst moment of my life.
My brain started searching for anything I know about cystic fibrosis. I knew I’d heard of it but couldn’t place it, my mind immediately went to other conditions like cerebral palsy, muscular dystropy, will she be able to walk? What does this mean? How is this happening? What is her life going to be like?
I had all of these thoughts in about a 10 second time span. I asked the pediatrician to please give me more information. She said that it’s a lung disease and that’s pretty much all she would give me. I couldn’t help myself and started rattling off more questions.. is this serious? do people die? I dont understand. How likely is it that she has it?
All she told me was that she needs to send us for a sweat test to check for CF, that yes it is a very serious condition, and that there are a lot of false positives and with no family history she felt it was unlikely that she would have it. She even said that the last family she sent for the sweat test the results came back that the baby did not have CF. I hung up the phone and I already knew, I felt it somewhere deep in my heart that she had it but I wanted not to. My first reaction was obviously to google cystic fibrosis. The first thing I read was that it was a life shortening illness with a life expectancy of 37 years old.
I had to fight myself to not immediately throw up.
I called my mom and my husband and cried my eyes out, nearing a panic attack. They were concerned but both took the stance that it was unlikely and they didn’t think she had it and so on. After the phone calls I just held my baby, looking at her and crying, thinking “she’s perfect, how could this be?”
The next week was the worst of my life. There was so much waiting… waiting to hear back from insurance, waiting to hear back from scheduling at multiple CF accredited centers, just waiting. In the meantime, I drove myself completely crazy.
I spend every spare second online reading about CF (exactly what they all tell you NOT to do as soon as you get into a center) and analyzing everything going on with Anna. I could see similarities with what they were discribing as problems from CF but for every CF point there was a non CF counterpoint like green stool can mean too much foremilk and not enough hindmilk for the baby.
I couldn’t take it.
If we wouldn’t have found out the news on that Thursday it would have been to much to bear, I truly have never felt worse in my life than before the diagnosis. The Wednesday before her appointment at the pediatrician Anna was outside for a little while, I had spent the past week licking her like a lunatic to see if she tasted saltly. I thought she did but everyone else would say no, I couldn’t tell if I was being overly sensitive or what, not to mention I had no idea how salty normal sweat tasted.
Well, that Wednesday was the first time when I had my mom lick her too. She looked at me and I saw it in her eyes, she agreed she was excessively salty. It almost felt better knowing someone believed me but worse at the same time that this was a real possibility. The next morning was her next appointment at the pediatrician. All I wanted was to hear she gained a lot of weight, I knew if she gained a good amount of weight I might be able to start believing she might not have it.
She gained only 4 ounces. I thought it was horrible, but apparently it could be considered normal. The very lowest end of normal, but normal. My husband tried to cling to that but I knew it wasn’t good enough.
I was finally fed up and demanded some kind of information. We’d been in the dark driving ourselves crazy for a week, I needed to know what was going on. Our sweat test was scheduled for the next day but it wasn’t good enough. I asked for copies of her newborn screening. I wanted to know her IRT level and I wanted my son’s results as well to compare. The doctor wouldn’t discuss them with us but printed copies. She handed me Anna’s results and I saw it plain as day, IRT 109. DNA showed 2 copies of deltaF508 mutation. I had read enough to know that two copies CLEARLY meant she has CF.
My doctor had these in her hand the whole time and actually told us it was unlikely. I couldn’t believe it. I said to her “this means she has it, doesn’t it? It obviously means she has it” She said she couldn’t comment on the results since a company does the testing she doesn’t know, etc.
Either way, I had gotten my answer. My daughter has cystic fibrosis, homozygous deltaF508. Jack’s screen was normal.
Obviously, my first order of business was to then google “Homozygous deltaF508″ … It said it is commonly thought of as the most severe mutation. I cried and cried and called my mom and cried some more but as strange as it sounds that night was the best night I’d had in a while. It was still full of tears but the uncertainty was gone. My mind shifted from fear and disbelief to resolve to keep her healthy. I became empowered because instead of questioning, the truth was put in my hands and while I would never want her to have this condition, she does, and now we know why she can’t gain weight and why her belly hurts and we can do something about it.