“I knew parenting would be overwhelming, all-consuming, but I never expected this. Five hours after our sweet Sawyer was born, the doctor on call rushed into our room and woke us from a dead sleep. She said, ‘Your baby is breathing a hundred breaths per minute and still isn’t getting enough oxygen.’
We lived in a rural town at the time, so they needed to life flight her to a children’s hospital two hours from us. I was numb. I didn’t understand. Was this a nightmare? Can I wake up from it yet? What was wrong with her? Why can’t she breathe? I need to be with her. Someone figure out what’s wrong with my perfect baby! My husband and I said goodbye to her shortly after, not knowing if we’d ever see her again, not knowing if she’d survive.
Over a month went by in the NICU and still no answers. Doctors ran every sort of tests they could think of. Specialists evaluated her. They put her on multiple antibiotics and, still, no results. She eventually improved, but there was still no diagnosis.
The pulmonologist sent her home hooked up to an oxygen tank as she still couldn’t breathe. She was a pretty typical newborn aside from the fact that she wore a cannula twenty-four seven. She stayed on oxygen for about two months. There were a few mild developmental delays along the way, but nothing severe. Doctors always reassured us everything was fine. We tested her for a few chromosomal disorders as a precautionary because I just always had this unsettling feeling, you know? A mothers intuition.
Her medical file literally read, ‘Unknown respiratory issues at birth.’ We wanted more kids, where do we go from here? Sawyer was constantly getting respiratory infections and we couldn’t seem to get to the bottom of it. At one of our appointments, we spoke to our pulmonologist and he mentioned we could get testing for a common genetic lung disease as she was showing some symptoms for that. We tried to get her tested, but our insurance denied the test as they didn’t see it necessary. I went to court, I fought with every ounce of my tired self. They still wouldn’t cover this thousands of dollars test. The judge denied it, I fell apart. I felt hopeless.
In the meantime, we got pregnant with our second because the pulmonologist assured us the lung disease was treatable. If on the off chance she had it, the odds of our second having it was unlikely. After consulting doctors and specialists, we decided to make an appointment with a geneticist. Maybe the judge would like his referral and he could plead our case?
I’ll never forget the day we met the geneticist. I was annoyed. He took one look at Sawyer and said he wanted to do some tests to ‘complete her file.’ Do you know how many times she’s been poked and prodded because some doctor decided they could solve the mystery of our girl? A lot. You want to know how many times those doctors actually gave us answers? Zero. My husband and I obliged. We held her down for another blood test, we put another urine bag on her; it took six of us to hold her down for x-rays. We did all the things. I felt so angry leaving that office, but praying it would help us achieve our ultimate goal: answers.
The worst day of my life was on June 16, 2016.
I was at work, six months pregnant and dealing with heartburn, when I saw the doctor’s office was calling. I naively answered. I quickly realized I shouldn’t have. He carefully and tenderly told me the devastating news. News that broke me, broke our family. Our sweet, perfect, little girl was dying. As I sit here, writing this, I feel like I may throw up.
Three years later and saying she’s dying still seems unfathomable. As if that fear wasn’t enough, there was a one in four chance that our unborn son would have the same terminal illness. In that moment, my hopes and dreams of my little girl were crushed. I didn’t want to call my husband to tell him. I didn’t want to know if my son would be affected. I wanted to crawl in bed and never come out.
He informed me she had what was called Sanfilippo Syndrome. It is basically like Childhood Alzheimer’s. She doesn’t produce an enzyme needed to breakdown the toxic waste in each cell and, the older she gets, the more her body and mind will fade away. Two days after my son was born, we had him tested. He isn’t affected by Sanfilippo Syndrome, thank God.
Three months later, we fought to get into a clincal trial, our one chance at life. She was the sixth person in the world to be treated in a gene therapy trial. We don’t know if that was a cure; we get asked all the time and we just cannot say.
So, how is Sawyer? How are we today? We live knowing each day is a gift from God. We spend our days spoiling her and giving her the absolute best life. We’ve since relocated to a bigger city to give her better therapies. She lost her speech. She is now having hip problems, but still loves to jump on her trampoline. Yes, we have a full-size trampoline in our apartment living room. We don’t like to look to the future because we know what’s coming. We live in the present and take our days one minute at a time.
We never saw ourselves as special needs parents, but we were thrown into being advocates for this rare disease. We are a part of an amazing foundation (Cure Sanfilippo Foundation) that funds ACTUAL clinical trails for more kids to have a chance at life. We believe with everything in us there will be a cure in this lifetime. We fight to fund research that’ll ultimately wipe this disease off the map. We trust God and know He is faithful even if the immense pain. We love our girl so much, no child should proceed their parent in death.
The hardest reality about Sanfilippo is a constant state of grief. It’s always wondering: will today be the last day she walks, will she recognize me tomorrow, will she wake up? Living with grief is unbearable, for all of us but then I see how much she fights on a daily basis and it gives me strength. I see what she has to overcome and through it all. I know we can wake up everyday and face it all again.”
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This story was submitted to Love What Matters by Brittany Meyers. You can follow her journey on Facebook and Instagram. Submit your own story here and be sure to subscribe to our free email newsletter for our best stories.
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