Valentine’s Day was another hard day of being a parent but not in the sense that my child was disobedient or that I was left to clean a messy home all by myself… I long for those days now.
No, yesterday was hard on my soul. I was heartbroken to learn that my child has multiple devastating genetic mutatiosn that are partially responsible for her onset of Epilepsy. Two of the mutations are known but confounding and then she has 1 mutation that has not been mapped by science. This leaves us with hardly any answers and lots of new questions particularly regarding her life and longevity.
To learn that a partial source of Scarlett’s issues are not because of the TBI but linked to these genetic mutations was jarring. Our whole life was based on this. Could we have got her help sooner if her previous neurologist and team were more aggressive?
This news broke me down. I was in a tailspin. All the compose I maintain and receive “compliments” on went out the window. I was the very definition of “Hot Mess.”
My heart was broken on Valentine’s Day. St. Valentine, the Patron Saint of Epilepsy.
Irony at it’s finest.
I ugly cried for hours. HOURS. I cried so hard I could hardly open my eyes. I have never cried that hard in my life.
Through the darkness a sliver of hope remained on one of the mutations (the gene that they believe to be the most devastating) was only a single deletion rather and a double deletion- which is considered terminal.
I believe that we have one of the best (if not the best) Epileptologists in the world and after speaking with her she was able to put our mind at ease that our Sweet Girl is an anomaly and not necessarily in a bad way. Yet, she advised us to begin the Modified Atkins Diet (MAD Diet) immediately to help support her mitochondria and hopefully stave off the seizures. We met with a dietitian that same day and began the diet the following day. We were also advised to meet with a Geneticist as well as a doctor that specializes in Mitochondria. Those appointments are pending.
Many people have asked us already, just want exactly is the MAD diet. The MAD diet is basically the “Mainstream” Ketogenic Diet that everyone is on. However, for those with Epilepsy there is a lot more at stake. Meaning, if you, a non-epileptic, fall out of ketosis, the only thing that happens is that you have to work to get yourself back in. If my child falls out of ketosis, she increases her likeliness of a seizure- so not good, right?
So what does this involve? For our sweet girl, strict control of her macros. They don’t joke around either. We had to change more than just her food. Did you know there are carbs in lotion, shampoo, conditioner, deodorant, and toothpaste, just to name a few? Ya… we didn’t either. There is a definite learning curve and I will discuss what we have learned and are doing in another entry.
Thank you for reading.