The rare disease world is hard...Unexplainably hard.
It’s any parent’s worst nightmare to learn their child has a diagnosis, especially one that affects less that 620 people per million. Add an “ultra” to the beginning of their title and you join a club of 20 or less people per million. But what about those children who are paving the way for brand new diseases; the children with not one, but two “ultra’s” on their title. The children who will have research papers written about them and who’s DNA will be literally studied under a microscope. The children’s doctors will tell them there is nothing to be done and researchers will turn them away from their labs for lack of community base and funding. This is the community the Lightning and Love Foundation aims to serve - Children who suffer from ultra-ultra-rare genetic disease.
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The foundation was created when “lightning struck twice” for my family...
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Laying in bed almost three years ago, trying to get the energy to get up, I just understand why I was so tired. Something just wasn't right. Well two little pink lines later and our world changed forever!
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Emma Hart Gillaspie was born on October 24th, 2016 with the most amazing full head of hair. She was the most beautiful thing I had ever seen. Nothing could have prepared me for the joy I would feel becoming a Mom. But life threw us a brutal curve ball when three months into our parenting journey we noticed some strange “crunching” movements episodes where she would stop breathing.
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An ambulance ride and overnight EEG later and we were sat down for what was to be our first diagnosis day.…Infantile Spasms. A catastrophic form of epilepsy known for “Little Seizures, Big Consequences”. We started treatment immediately and were reassured when it initially worked. But Emma relapsed quickly. Then another medicine helped…then another relapse. And on and on. Each medicine we tried had worse and worse side effects. The steroids we pumped into her little body made her so swollen that liquid oozed from her stretched skin. Her immune system took such a beating that she ended up with pneumonia that took her a two-month hospitalization to recover from. And we still have yet to meet a milestone. But from these hardships came a strength and love that I never knew existed. Before Emma I didn’t realize how much weight I put on things that mattered so little. I didn’t know how much excitement I would feel at the tiniest bits of progress. I didn’t know what it meant to fight until I watched her fighting for her life. Emma still struggles. Her life is hard. But she is SO LOVED and I know she can feel that.
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A year and a half into our journey, and after extensive genetic testing all came back normal, we were excited to start growing our family.
Abby Elizabeth was born October 16th, 2018. Almost two years to the day after Emma. It was another love at first sight moment. My heart grew with love in a way I didn't believe was possible. At 6 weeks old, we saw an all too familiar movement that made our hearts jump. Surely these were just typical baby movements. All babies crunch their body in half involuntarily, right? Even admitting our concern and saying the words out loud took every ounce of bravery I could muster. I wanted to look the other way, pretend it wasn’t happening, make it go away. It was impossible for this to happen a second time! But an ER visit and another overnight EEG confirmed our worst fears. Lightning had struck twice. Abby was diagnosed with Infantile Spasms…our second diagnosis day. Our experience with Emma taught us a lot, and there are so many things I would go back and change about the treatment protocol the doctors used. I believe its Emma's gift to her little sister that we learned how to better and more aggressively treat and therefore Abby has been less affected.
I thought a fire had been lit inside me after Emma was diagnosed, but having two daughters go through this turned that little flame into a full blaze. I've been full steam ahead ever since trying my best to navigate the world of genetics and ensure we do everything possible to give these precious sisters, and all those living similar journeys, the best life possible.
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I welcome you to follow along as I openly (an often vulnerably) tell our story and fight like a mother for a CURE.
I believe that HOPE should be possible for all children battling rare genetic disease, no matter how many “ultra’s” they have on their title.
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All my love,
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