Over the next few days you will learn about each type and how it presents. Our daughter had Early Infantile Krabbe.
Our daughter, Tori, first lost her smile at five months; she never got it back.
Nerves control everything – even smiling. We treasure the smiles from our sons so much more because of this.
We have seen Krabbe babies of every color. While it is most prevalent in Scandinavian and Jewish populations, it exists in every race.
When Tori became symptomatic with Krabbe it looked like reflux. Her doctor started her on meds but they didn’t work. That led to a hydrocephalus theory that led to a CT scan that led to an MRI and correct diagnosis.
I moved from CA to PA, married a Pennsylvanian – we both carry the same genetic mutation (30kb deletion). We were told that the odds of that happening were incredibly rare given the distance between us. We were clearly meant to be. ❤️
This fact is one of the major reasons why we firmly believe that Krabbe should be included on every Newborn Screening test. We had no idea that we carried this fatal mutation – no one does unless someone in their family has been affected or they’ve had genetic testing.
Oh, how we wish we’d known…
I often see moms post about how sad they are that their babies are not newborns and tiny anymore, or sad that another year has gone by, and perhaps I could have related to that feeling a few years ago.
But, I just can’t relate to it now. I realize that my perspective is different than most, which is why I feel like I need to share it, especially this month.
I’m not sad that our boys are bigger, or that they are continually learning and doing new things. I doubt that I will ever look back with tears and want to go back to those newborn days.
I’m thrilled and delighted that they are ABLE to get bigger. That they are ABLE to grow and learn. Why am I delighted?
Because Tori wasn’t given that opportunity. Because Krabbe robbed her, and us, of a normal childhood. She stayed little, like a newborn, for her entire existence. She never learned to talk, walk, laugh, play.
We would do anything, anything, to have her here today, in full five-year-old glory.
And it is with that perspective and passion that I write, parent, and live.
I am truly overwhelmed with gratitude, amazement, and joy with every new milestone reached, and I don’t look back at their newborn pictures with sadness (disbelief that they were ever that small, amazement at how far they’ve come, but not sadness). Part of that is because newborn twins are seriously challenging and I don’t want to go back to that phase, but it’s mostly because of Tori, our precious baby girl who was taken from us too soon. I LOVE watching them learn and grow as healthy little men.
What makes me sad is that there are babies born each year with a treatable condition but that their ZIP code determines whether they have a chance to live or not.
What makes me sad is that families like ours, families with so much love for their children, have to say “see you later” to their child and be separated from them until we get to Heaven.
I fight for Newborn Screening for Krabbe because I don’t want anyone else to go through what we’ve experienced. I want babies born with Krabbe to have the same opportunity for life as any healthy baby. I want their parents to be able to see their children achieve typical milestones. I want their children to grow up.
I know motherhood is challenging and it’s easy to be frustrated. I get it. I have my moments like anyone else. However, in those moments I remember that not every child gets to grow up, like my Tori, and I remind myself that I have so much for which to be thankful.
I pray that you can do the same. ❤