My Stripes by Susie DeJesus
When my firstborn daughter Vivianna was six months old, I saw her doing these strange “pumping” motions with her arms and legs. I knew deep down that something wasn’t right. I mentioned it to my husband, and he chalked it up to being something babies do. But I couldn’t shake the feeling of something bad. My maternal instincts were on full blast, screaming, “SOMETHING IS WRONG!” I did a quick google search, and I became panicked with fear—my baby was having seizures.
We rushed Vivianna to the hospital on Valentine’s Day 2019, and it was confirmed that these motions were seizures. Throughout 2019, doctors kept telling me she will probably grow out of it, not to worry, blah, blah, blah, but I just couldn’t let that uneasy feeling go—I needed more answers!
I became pregnant with my second daughter, Carmella, and saw a wonderful genetic counselor, who I view as Vivianna’s guardian angel. She gave me a pep talk and ignited the fire for me to fight the healthcare system! My insurance kept denying the genetic testing requests. I took matters into my own hands and was able to get in touch with a neuro-genetics team at another hospital who did the test for FREE! Through that test, we received the diagnosis of GLUT1 Deficiency Syndrome, a very rare and lifelong disease that is treated with a medical keto diet. The earlier the diet is initiated, the better the prognosis for the child to develop on a normal path. Imagine if I just went with the doctors said and hoped that she would “outgrow” this?
It just goes to show that as RARE MAMAS’ Nikki McIntosh said, a Rare Mama’s stripes are unique, brave, fiery, and ferocious!
Guest post by Susie DeJesus, GLUT1 Deficiency Syndrome Advocate, and Rare Mama to Vivianna
@keto_kid_viv