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.
Tag: Leukodystrophy
Krabbe Awareness Month: Day Eight
We have seen Krabbe babies of every color. While it is most prevalent in Scandinavian and Jewish populations, it exists in every race.
Krabbe Awareness Month: Day Seven
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.
Krabbe Awareness Month: Day Five
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…
Krabbe Awareness Month: Day Four
As Tori’s Krabbe progressed, we were amazed at the abilities she lost – such as sneezing.
Our nerves control everything in our body – even things we had never considered, like smiling.
Krabbe Awareness Month: Day Three
Krabbe is caused by a missing enzyme that the body requires. Amazing how one little thing can mean life or death. Our bodies are so intricate.
Krabbe Awareness Month: Day Two
Our daughter, Tori, was diagnosed with Krabbe at 6.5 months of age. We watched as she became merely a shell of who she had been and as she lost nearly every ability until she went to Heaven at 20 months of age.
It didn’t have to be this way, as you will learn this month.
September is Krabbe Awareness Month
Each day in the month of September you will be seeing a new image with facts about Krabbe/Leukodystrophies as we do our part to increase awareness about these diseases.
Please share these posts/images on social media using the hashtag #MakeKrabbeKnown
September is also Newborn Screening Awareness Month, so we will be posting about that as well.
Feel free to ask any questions you have! We’d be happy to answer.
So much gratitude to our friend Mike of ArtisticDork.com for making these images and for being willing to make updates and changes for years now. If you are in need of graphic design work, please check out his website!
Let’s #MakeKrabbeKnown because #WhiteMatterMatters ❤
Even So, Joy 