Anna Rose is Born

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.

Comments

  1. Nikki Grothouse says:

    I know Im not a mom yet but I can relate to how you felt when you found this out. I felt the same way when I found out I had cancer over the phone from a nurse at my surgeons office. She’s lucky to have strong supportive parents.

    • Thank you so much, Nikki! Finding out bad news like that in that kind of a way is definitely a tough and horrible situation that most people don’t have to deal with. Knowing someone who understands that feeling means a lot to me. Thanks for posting this! You are a really strong person, I’m glad to have seen that all your recent cancer screens have come back healthy and we’ll be thinking of you since I know you have a lot to deal with in your health and it is really hard being in that world with many doctor appts and everything that comes with it.

  2. I just read through all of your posts… your story broke my heart. I will keep you, Alex and your lovely family in my thoughts and prayers and will certainly keep reading and be cheering you on through life’s adventures. Best of luck to little Anna, she’s definitely tough like her mama!

    • Thank you SO much, Alexis! And a special thank you for being the first official contributor to my Great Strides campaign! My first 25 was from Alex haha. We really appreciate your kind words and are very happy that you’ll keep reading our story as we live it.

  3. Lisa Dixon says:

    Hi Kate! My daughter Charlotte Rose was born July 10th 2011, the day after we brought her home from the hospital is when we got the call saying she tested positive for CF. I remember feeling and thinking the exact same things you described, wanting information but just being told to wait for our appointment. Of course I too googled it…horrible idea…but what do you do?? I remember finally demanding information and answers while still trying to hold on to hope that maybe it really was a false positive, but I knew it wasn’t. I was right. When she was a week and a half the sweat test confirmed CF. Charlotte has 2 copies of df508 too. It was nice to just have an answer. We are so thankful we have such a great CF team. Charlotte is having a little trouble gaining weight but besides that she is doing great! We also have a 3 year old son who does not have CF his name is Jett. Payers to your family and thanks for sharing your story!

    • Hi Lisa! Thank you so much for this comment! I wanted to make this blog to raise awareness and to keep friends and family informed but more than anything I hoped to connect to other CF parents. Our stories sound remarkably similar! I’m so happy to hear that Charlotte is doing so well and I’d love to keep in touch as both of our stories continue. Email me anytime! Kmmusso@gmail.com

  4. Hi! Tks for sharing your story. I have a 2 yr old daughter chloe that was diagnosed with cf at 16 months. No family history ect. We were pretty devastated as well but there were so many signs. She went from the 50th percentile in weight down to the 3rd before she had her sweat test and she was eating a huge grocery bag full of food everyday. Shes still only up to the 10th % right now 6 months later so that awesome youd daughter was put on enzymes so early! I figured out she had cf 2 months before she was diagnosed as she was extremely salty and I made the mistake of googling that symptom and she had every single one of them. Noone else would believe me though. She was going through 10 to 11 diapers too and would go in between when I was changing her. Anyhow glad to know she is doing better! Our daughter is doing good too but she’s just getting over a cold. Boo i hate the winter months now!

    • Thank you for your comment Annie! I can’t imagine having 16 months of Anna not diagnosed because you’re right there are so many signs! In a way I sometimes wished for that baby time not knowing so that I could just focus on all her exciting baby things because I was SO focused on the CF from the start but I’m sure you were too even though she wasn’t diagnosed because especially the weight gain causes so much worry. Even though getting the diagnosis is hard I’m glad they eventually diagnosed Chloe because having a diagnosis is comforting when you just want them to get better. And I’m sure that percentage will continue to grow with her on enzymes! It is probably tough too because 2 years old is such an active time! I worry about Anna’s weight dropping a little then because of it. All of the symptoms you said you saw with Chloe are classic CF and I know it’s so hard when it seems like no one believes you! Even though it’s not ideal to have CF I’m so glad that you are on a good path for her (and you) now, because worry and googling can drive you crazy! I hate the winter months too! I’ve always been excited for spring and summer but never nearly as much as I am this year. I’m so over flu season! I hope Chloe continues to get better and if you ever want another CF mom to chat with my email is kmmusso@gmail.com or facebook me, Kate Becket. Thanks again for reading and commenting!

  5. My CF-er was born June 16, 2011, too! I have a little boy and we live in Chicago. He was diagnosed on June 28 after the newborn screening came back positive. If you’d ever like to email, feel free. I know very few CF parents with children this age.

    Erin

    • Hi Erin! Thanks for reading and commenting :-) this is so crazy that Anna and your son have the same birthday. I’ve been lucky to meet son great CF moms recently through the blog and its been great to have people with CF babies to talk to. I’d love to get to know you so expect an email from me! Talk to you soon

  6. Heide Ettinger says:

    OMG Kate….I just read this blog of yours because of Anna’s event info that you posted. I, first of all, don’t understand how I’ve gone all this time missing the fact that your baby girl has CF, and 2ndly would like to offer you my condolences and congratulations in the same breath. Your story brought tears to my eyes…I can’t imagine finding out my child has a debilitating genetic mutation…for that, I am so sorry you and your family has had to know that pain. But, I want to congratulate you for being so awesome and becoming proactive about it, rather than just being pessimistic. I honestly don’t know how I would feel or act if I were in your shoes, but I do know that you are much stronger than I would ever be. Knowing you for as long as I have, I just have to tell you how proud I am of you for all that you’ve overcome as a woman and now as a mother, especially a mother of a special needs child. You are so beautiful inside and out, and you and Anna are truly blessed to have each other. God knows what he’s doing when he gives us our miracles…I’ve found that he only gives the most special children to the strongest, most deserving parents. Both of my kids are average, healthy toddlers…but I do have twin 12 year old nephews with severe cases of Cerebral Palsy. I see what my sister in law, and the rest of the family endures along with those boys on a daily basis, and it takes so much work! I’m just so glad to see that you have such a huge support system and you are going above and beyond to find the best possible care for Anna. She is such a beautiful baby! I don’t know how much help I can be, but if there is anything I can do to help with your event all the way from North Carolina, please let me know! I make hairbows and bowholders, so if you need money for fundraising, I can maybe help by making CF awareness bows (or just regular bows &/or bowholders) that you can either sell or raffle off? Just let me know! take care girl! I’m so proud of you! Give Anna kisses from me! We need to get together and catch up the next time I come home to PA!

    • Aw Heide! Thank you so much for much your kind words and for reaching out to me. The crazy thing is that I always think the same about you! I always think what a great mom you are and I have no idea how you do it on your own during the times that Danny is away. I really admire you as a mom, you’re incredible and your family is beautiful! I definitely hope we can catch up next time you’re in town, let me know!

  7. Hi. I’m a mom of 4, sitting on a basement futon, doing what they say “don’t do” when you’re waiting for the test results to tell you if your little one has CF. We should get our results tomorrow, regarding our littlest guy, James. I came across your blog in a search to read something less clinical than all the googled webmd sites, you know?

    Thank you for sharing your story. Regardless of the outcome of the phone call I get tomorrow…I’m glad I found your blog and “met” your sweet girl.

Leave a Reply to Monica @ The Writer Chic Cancel reply

*