I believe most people have a few moments in their life where details of the day are etched into their minds like handprints into wet cement. The moment passes but the prints are there. You can think back to exactly the way you felt, relive each emotion as if the moment is still in your grasp. The moment lives. It exists as it did from the start. I’m about to celebrate the anniversary of one of these moments – really a series of these moments – which has changed so much about my family and how I look at the world today. As we begin to celebrate the holidays it’s on the forefront of my mind. The moment started with me and a phone call in front of our Christmas tree…
Three years ago my husband and I were about to receive the news that we were genetic carriers for a disease called Cystic Fibrosis. I was just about to enter my second trimester of pregnancy with our second child. Until this moment in life I don’t think I could have even answered the question, “What is Cystic Fibrosis?” But there
I was 3 months pregnant with a one year old, arriving home after a successful trip to the mall for his first hair cut and Christmas shopping, realizing that I had a missed call from my Obstetrician. We’d become aware a few weeks earlier that I carried a mutation for Cystic Fibrosis (CF) and had been waiting the results of my husband’s testing. Upon learning I was a carrier I turned to Google to learn more and was immediately thrown into a rabbit hole of complicated and terrifying details about this life shortening genetic disorder. One figure kept me calm though and I choose to focus on it – only 1 in roughly 25 people carried the mutation for CF. Since both parents needed to be carriers for a child to be at risk (at which point the child would have 1 in 4 odds of inheriting both genes and being affected) it seemed unlikely that lightning would strike our family twice. So I stepped back from Google and assured myself that the odds were in our favor. The late in the day call directly from my OB though – it made my heart sink. I dialed the office number and was patched right through to her. She took a deep sigh and I heard the word “unfortunately.” I sat in our living room with the Christmas tree lit and my toddler dancing in front of me as I held the phone to my ear. My husband was a carrier as well. She was offering an apology for the news and discussing next steps and testing options and I was sitting on a couch surrounded by Christmas cheer, busy falling deeply into my life changing moment.
As it turns out, at almost 2 and a half years old our child has still not been given a diagnosis of Cystic Fibrosis but he has also not been given a clean bill of health. And so we find ourselves firmly in the world of grey diagnosis. Over the last three years I have received a very intense education on CF and genetics. Until recently CF was seen as a clear-cut childhood diagnosis based on immediate symptoms and confirmed with a “sweat test.” In the last few years more is being learned about the underlying malfunctions that cause the disease and with later diagnoses being given more and more often, CF can now more easily be explained as a spectrum disorder, with classic/early presentations of the disease representing the more severe end of the spectrum and later presentations and/or less mild symptoms on the other end. It’s not an all or nothing like they once thought. After our son was born we received confirmation through genetic testing that he had in fact inherited both mutated genes and we began the testing involved to confirm a diagnosis, namely a sweat test which as its name implies is a test where they stimulate sweat glands and collect that sweat to determine the level of chloride present. While my son has two mutations that are known to cause CF, he also has a negative sweat test, which is the gold standard for diagnosis. That leaves him in the diagnostic parking lot called CFTR-Related Metabolic Syndrome (CRMS). Children diagnosed with CRMS may remain relatively healthy. Others will develop enough symptoms to be diagnosed with CF Related Disorder but not enough for a full CF diagnosis. Some will go on to be diagnosed with Cystic Fibrosis. And for children with CRMS, there is no official end date for when symptoms may appear. The only thing we can do is wait and watch to see if/how/when disease manifestations will appear.
As the reality unfolded, that he would be living in this diagnostic limbo as we waited to see if symptoms appeared, my anxiety shot through the roof. Every time he coughed, every runny nose, every odd diaper – were these “normal” baby things or where they CF things? When he needed steroids to clear his bouts with croup. When he had a lung infection and then a few months later another lung infection – what did this mean? His weight gain stalled. He got a sinus infection. He was running out of breath easily. Coincidences? All of the unknowns felt like bees buzzing back and forth inside my head. There was no peace from it, just noise and confusion and so much terrifying unknown.
The emotional side of having a child with a grey diagnosis has been a larger battle than I could have anticipated: Fear, guilt, confusion, loneliness topped off with obsessive Googling. Most of the time my overarching emotion is relief that he does not have classic symptoms but the constant waiting and watching weighs on a person and many times I have found myself just hoping he’ll finally have something happen so we can diagnose him and move forward, only to fall back to immediate guilt when I realize that in that logic I am wishing for a life altering diagnosis. I think it goes without saying that I don’t really want him to be diagnosed yet it is exhausting waiting for the other shoe to drop at all times. While I wait I continue my never-ending research. I frequent forums. I email researchers. I try to busy myself in some way that can make me feel like I am doing something for my child other than waiting with him. But ultimately it stands that all I can do is wait with him. Wait and hope that everything I am putting him through is for nothing.
Through this all he has continued to be monitored closely by his CF Team. Despite not having a CF diagnosis at this point all precautions are made to assure that any medical issues that may be related are caught early. He has regular blood work as well as fecal testing to check for malabsorption. He has had four sweat tests – all of which have remained negative. He’s had x-rays, a CT scan, a bronchoscopy, endoscopy and an infant pulmonary function test under sedation. We began nebulizers, inhalers and CPT (chest physical therapy). This leads to a whole new level of concerns trying to find our comfortable balance between proactive treatment and overreaction. Are we doing enough? Will we regret not doing more? Are we doing too much? Will we regret the procedures and the pokes and prods we put him through? At only 2 years old I cringe to think of the number of times I have had to hold my child down while he fights against me for another blood draw or throat culture. The look of betrayal from your child when you hold them against their will as they fight against the anesthesia mask is something I could not be prepared for no matter how hard I tried. These are things that parents across the world are being subjected to as their children suffer from various maladies and I know this is not unique to us but when you aren’t sure if your child actually has a life shortening illness or whether they are simply going to be prone to manageable issues, the question of risk versus gain becomes increasingly heavy in one’s mind. As a self-described control freak one of the hardest emotions surrounding a grey diagnosis for me has been the desire for there to be resolution. For all of this testing to mean something other than, “we still don’t know.” And that’s been a trying thing to overcome. The unknown has always been my kryptonite and currently the unknown lives deep within my sweet child as a part of his questionable DNA. With every test that leaves him undiagnosed being a positive sign yet still not a definitive, never a definitive, the idea of closure feels unreachable.
For the last 2 years we have been standing in this transitive state between life shortening genetic disorder and healthy child. Each passing day is simply a part of our new normal and I don’t know what differences my child would be experiencing in his life without his grey diagnosis. I like to believe that these moments are building him into a tough warrior who regardless of a diagnosis sheet is firmly aware of just how strong he is and how hard he can fight. Other days I try to downplay the impact this has had on us because I worry that once he is old enough to ask questions I will have no way to explain the complexity of the situation. If I can barely grasp it in my 30s, how can I expect him to understand it when he’s only 5 or 6? What we do know from his testing is that he most certainly has some type of lung disease. His airways are inflamed. His lung function is much lower than one would expect from a “healthy” child – but these alone do not warrant a CF diagnosis. So we continue with the inhalers. We continue his multiple visits to a CF clinic each year. We meet with his pulmonologist, his GI doctor, his respiratory therapist. We do cultures. We discuss lung function. We adhere to cross infection guidelines. We fundraise for a cure in case he might need it and because so many of the people we now rely on for support and guidance DO need it. We do our best. And we hope..
I’ll always be able to think back to the day our life took this crazy left turn towards this grey diagnosis. I can see my toddler’s wet hair from his cut. I can remember stopping at See’s Candy for chocolates with my only worry being how much of it I would eat before Christmas. I can picture pulling into the driveway and seeing my husband’s car. I know where I was standing when I took my phone out of my purse to show him pictures from the day only to see the missed call. I can recall the exact position I was laying in my bed when I finally let the tears fall that night. I can remember every fear that ran through my head. I remember it all like a movie playing before my eyes. The most mundane details mixed with the most raw emotional expressions all concreted in my mind like that handprint in the sidewalk.
This is a story I could write over and over and always have more to say. How do you end a story that is still being written? All I can fall back to is the mantra I have been telling myself for three years now…Hoping for healthy, planning for happy. Oh my, and is he happy.
November 30, 2016 at 6:39 pm
Beautiful! I pray for his healthy and I bless you three for his happy.
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November 30, 2016 at 8:07 pm
This is exactly how I feel. Scared to tell family and friends and so unsure of the future. I do need to think like you. Pray for the healthy, plan for the happy. Thank you for sharing.
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December 1, 2016 at 7:13 am
It took some time before I began sharing the news of his diagnosis. It is an incredibly complicated concept to grasp and even more so to try to explain. One of the many reasons I felt compelled to share our story here is so that others that are living in the same limbo might feel less alone in their worries. ❤
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November 30, 2016 at 8:14 pm
HUGS!! Thank you for sharing B’s story so far with us. You’re an amazing woman and mama. You both are so strong!
December 1, 2016 at 7:14 am
Thank you, Connie. It is so nice to have so much support from my June family!