I'm Mariah…Texas native and Colorado Transplant. Introverted nerdy engineer who still loves to sip some wine and play cards against humanity with friends. Lover of all fur-babies, but especially my two crazy pups and mischievous cat. Wife to my favorite human who will forever make me laugh with his childish goof. And…most importantly…mom to Emma and Abby. The two little humans who completely changed my life's trajectory in the hardest, craziest, yet most beautiful way.

Emma was the surprise we got as we were planning our wedding, which worked out perfectly because she made the most beautiful flower girl. And little did we know then that our journey with her would be full of surprises. When she still didn't take a bottle well or make eye contact at three months old, we were concerned but optimistic. Whether a blessing or a curse I don't know, but I tend to air on the side of, “every little thing, is gonna be alright". But Emma quickly made it clear that she had different plans for our journey. I vividly remember looking down to find my sweet girl pale and dusky, she was not breathing. My world froze as panic set in, and my next clear memory is of hearing the doctors explain that she had a seizure from a catastrophic form of childhood epilepsy called Infantile Spasms. We would start her on a dangerously high dose of steroids that we would inject into her leg each day. There was a chance the medication would work, and a chance that it would not. She may recover from these seizures, or she may never walk or talk. And with that, my parenting journey became a nightmare. It hurts to say it now, but I wanted a do-over. I loved my child so hard that I couldn't imagine seeing her suffer. And my fear was all-consuming. A type-A planner by nature, I no longer had any idea what my future looked like. I mourned the death of the child I thought I was having, and the loss of the life I had planned. 

But in the deepest and darkest moments of your life, your strength grows and shows you what you are made of. I remember the unstoppable tears and falling to the floor and crying out in grief. But I also remember the endless hours I spent googling therapies. The amateur research I did into this devastating disease. I remember feeling something building inside of me…the determination to fight for my child. 

After time we transitioned from feeling pain, to feeling okay, and finally to feeling happy again. We learned that while our world looked different than we had anticipated, we were happy in our little family bubble. Our Emma wasn't able to communicate with us the way we had expected, but her eyebrows raising and her dove-like coos spoke volumes. We loved watching her unique personality grow, and with her we grew into a family that loved a little more deeply and cherished moments a little more humbly. 

And eventually we felt like it was the right time to grow our family. We were excited to add another precious baby and felt confident that since all genetic testing had come back normally we were safe in doing so. We welcomed our Abby to the world almost two years to the day after her big sister was born. She was feisty from the get-go and my heart grew in a way I didn't know was possible. 

We learned a lot from our medical journey with Emma, and one of the most instinctual lessons was seeing a seizure simply by a roll of her eyes. So when I saw that same eye movement in Abby, my heart stopped once again and I felt a dread wash me. The kind of fear that you feel physically. The sadness in the doctors eyes when they had to tell us for a second time that our child was devastatingly sick, I almost felt worse for them in that moment for having to carry the weight of such bad news. The next few weeks were complete déjà vu. We mourned, we felt immense anger, we cried, but eventually we felt that same deep down determination to fight. 

With both of my daughters now being given the same diagnosis, there was no doubt in my mind that it was genetic in origin. Something in our DNA had caused this, and that meant it had to be possible to find out what. And doctors agreed. All of a sudden insurance was willing to pay for the most extensive genetic testing available, something they refused to do when we had only one sick child. And I sought out research programs that may be interested in figuring out what was going on in our family. After blood pokes, piles of paperwork, and months of waiting, we got a diagnosis. THAP12. Mark and I had each passed down a broken copy of this gene to both girls, resulting in a completely broken gene and devastating disease in Emma and Abby. And this news came with a cherry on top…Emma and Abby were the first and only two known people in the world to have this condition. Our family had accidentally discovered a new genetic disease. We had won the lottery in the worst way possible.

I didn't know what to do with that news. I wanted to fight - having the name of a gene was a starting point. But who would want to cure a disease that affected only two people in the world? That was crazy. I felt like I was crazy. But as much as I tried to bury my curiosity, it never went away. I finally gave in to my fears and decided I had to face the challenge. In the summer of 2020, amidst a global pandemic, I launched the Lightning and Love Foundation. I felt like a little kid playing "grown-up". I put together a website, started fundraising, and pretended like I knew what I was doing. But one foot in front of the other and I started getting interest and compassion from scientists. Kind strangers believed in our story enough to contribute some funding. Little by little the pieces came together. And now, not even a year later, I'm still blown away by the progress we have made.

We have Zebrafish models having seizures and abnormal brain MRI scans. We have mouse models that don't even survive until birth, indicating the importance of THAP12 for basic survival. We have cell models and international research collaborations and use terms like “brain organoid” and “Induced Pluripotent Stem Cells.” We are really doing it…we are making our way towards a genetic cure and hopefully a healthier life for my babies and for all those in the future that may be diagnosed with this disease. 

And while we wait for genetically engineered mice to grow and cells to culture in labs…we snuggle. Emma rides horses in Hippotherapy and Abby builds strength in her stander. We have Disney dance parties and play with bubbles in the yard. We laugh hard, we cry hard, we live life as any other family does, with wonderful highs and difficult lows. 

Emma and Abby may not be the children I imagined I would have, but they are the children the world knew I needed. They are here to change not only my life for the better, but to change the world for the better just by being who they are.

I'm proud to say that even though lightning may have struck twice for my family, we are thriving (not just surviving) thanks to a whole lot of love!

To learn more about Emma and Abby, follow @lightingandlove on Instagram or visit www.lightningandlove.org!