Noella’s Diagnosis Story
We got a diagnosis & it’s definitely not what I expected. Often I find myself fearing the very worst and hoping for the very best. I never give much thought to circumstance that happens in the middle. There are so many possibilities sitting in that middle ground of scenarios, its hard to imagine any of them being true for you.
Noella has been diagnosed with 18q Deletion Syndrome. That’s just one name for it… there a many…but the general discussion is all the same. She is missing a portion of chromosome 18. It’s categorized as a rare genetic disorder, occurring in an estimated 1 in 55,000 newborns.
All of the things we consider her “symptoms”, or the things that make her unique, are tied to this diagnosis. And while part of me is relieved to have the answers, it’s also a little heartbreaking. Not because it will be hard on us, but because it will be hard for her. And as her mom, I don’t want it to be hard for her. I want to be able to protect her from everything but this isn’t something I can protect her from. She will struggle. She’ll have to fight harder than the other kids. It’s not something any parent wants their child to go through.
I cried for 3 days. Heart wrenching, tears flowing, yelling at myself and at God, crying. My heart literally broke for the “perfect” future I planned for. A future where we don’t sit in waiting rooms, or contemplate parental testing. A future where people don’t ask why she doesn’t match other kids her age, developmentally. There are still nights I stay awake begging God to continue to show me light in this. To clear my doubt and anger when it comes flashing back. Because I’ll be honest and admit that I was angry at God. So hurt. And so angry. And while I’m acutely aware that much better people get much worse news, I was still so upset with God. I had no right to be and yet I questioned everything.
Then my best friend sent me this quote, “God is still in control despite our pain, turmoil, and complication. There is a pattern when God works. He has a plan for our lives and despite our unfaithfulness, brokenness, and fear, His perfect will is still accomplished, because He is and always will be in control.”
And that’s when I fought for my faith. I knew that even though this is how He chose to make her, it was with intention and without mistake. Because the Creator of the Universe does not make mistakes. He made this whole world that we get to live in, the sun and the moon and the stars included, and yet He still knows my name. And He knows her name. That’s the God I have chosen to rest in. To trust that He alone will carry us out of this storm.
As a mother I know that testing and finding out if there was a diagnosis was the right thing to do. As a Christian I know that all though we pray over the hands of the doctors here on earth, God is the Great Physician. He alone knows who she’ll be, what she will accomplish. I will always advocate for her that no doctor will place a ceiling on what she’s capable of.
This is only the beginning of this journey… Noella’s journey fighting against a rare genetic disorder. My hope in sharing her story is that God’s glory would be revealed. That quite possibly, someone somewhere needs to read these words and know they are not alone. The world feels messy and confusing and hard right now. And I know there are others dealing with diagnosis’ of their own. I’m grateful for the gift of light that Noella is during this time. I wouldn’t trade this life, with this sweet baby, for anything. It is so unbelievably comforting knowing that the Lord was intentional with creating Noella and choosing me to be her mother. It truly is the greatest honor.
We knew that our Noella Jo was special in her very own way. Strong-willed, sassy, sweet, cautious. What we didn’t know was that she was 1 in 55,000.
