‘I think it’s happening again.’ I tried to bury my fears, but couldn’t deny it. Lightning had struck twice.’: Sisters diagnosed with ‘ultra rare’ infantile spasms, ‘They share a deep connection’

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“Those two little pink lines took us by complete surprise. I mean… we were planning our wedding. Not exactly the best time to find out we were also having a baby. But that didn’t stop our excitement. We were going to be parents, and we felt that thrill to our core. We were filled with dreams about our baby… seeing those first steps, and hearing those first words. The sports games or dance recitals, the transition into teenage years. Eventually, watching our children have families of their own, and our turn at spoiling grandkids. The future was bright, and it started with the perfect baby that was unexpectedly growing in my belly.

Courtesy of Mariah Gillaspie

I loved being pregnant. I fully admit I was one of those annoying women that never had morning sickness and bragged about how ‘easy’ the experience was. I know… I’m rolling my eyes at myself. And I did ALL. THE. THINGS. I decorated the perfect Pinterest-worthy nursery. I soaked up every ‘oooh’ and ‘ahhh’ at my baby shower as I held up tiny outfits and posed for pictures, holding my baby bump. I bought all the best quality baby gear and read Einstein books out loud to my bulging belly… because, obviously, my baby was going to be a genius.

Then, our sweet Emma was finally born with a head full of beautiful dark hair thanks to her father. She was our gentle sweet spirit and was happiest snuggled into my neck. Those first couple of months as a family of three were heaven. We were so darn happy. We watched as our newborn became more awake and aware. We watched as she started to coo, and gave us that first coveted smile. We watched as she started wiggling, and kicking, and trying to roll. But we also watched as she didn’t reach for toys like other kids her age. We watched as she didn’t make eye contact or even really notice we were there. And then… we watched her stop breathing, turn blue, and crunch her entire body in half. Something wasn’t right. This definitely wasn’t part of the parenting dream we had envisioned. What the heck was going on?

Courtesy of Mariah Gillaspie

I found myself as a brand-new mother in the back of an ambulance for the first time. Needless to say, these memories are a bit of a blur. I remember sitting in an Emergency Room pumping breast milk while doctors came and went, privacy an abandoned luxury. I remember seeing my 3-month-old daughter being poked and prodded, as doctors performed their tests. As I desperately searched their faces for a clue for what might be going on. I remember my heart sinking as I overheard one doctor say to another, ‘Their situation is very concerning.’ We were admitted for an overnight hospital stay and an EEG to measure our baby’s brain waves. I remember taking pictures of Emma with all the wires coming off of her head, sending them home to my parents with upbeat texts trying to calm the panic. I didn’t sleep that night. The waiting was absolute torture.

Courtesy of Mariah Gillaspie

My husband was running late to the hospital the next morning. A group of doctors came into the room and sat me down by myself. Their faces were so sullen, and yet this naïve, first-time mom was still hopeful. I remember my husband pushing into the room at the last minute, just in time to put his arm around me as the doctors got down to business. ‘Catastrophic infantile epilepsy’ was the term that sticks out in my memory. The official diagnosis was infantile spasms (the crunching movement) and focal epilepsy (the periods of not breathing). Treatments were available, but they were dangerous, and it was a toss-up of whether or not they would work.

I remember our nurse holding me in a tight bear hug as I bawled my soul out into her chest. She let me cry for a bit, then shook me by the shoulders telling me, ‘Alright, mama, now it’s time to be strong, it’s time to fight for your baby. And she needs to eat, so go pump.’ She was right, I will never forget her comforting hug or her loving but stern encouragement to pull myself together for my daughter.

Courtesy of Mariah Gillaspie

Once home, we started giving our 3-month-old injections twice a day, a poke in the leg, and a prayer it would help. We had been told that prognosis could range from slightly delayed to never walking or talking. There was no way to know where we would land in that spectrum. We had been sent home with shattered dreams and heavy hearts. Our future was completely unknown.

Courtesy of Mariah Gillaspie

That first year was hard. We would try a treatment, and it would work. We would celebrate and feel encouraged… then Emma would relapse. We would try a different treatment, it would work, then she would relapse again. We were stuck on a roller coaster of emotions…. having hope one minute, and the next seeing another seizure and having our hearts break all over again. Our marriage was full of arguments, and our personal emotions were full of anxiety and stress. I split my time between desperately googling stories of positive outcomes, and bawling my eyes out from the fetal position on the floor.

My mom moved from Texas to Denver to help take care of our girl. My parenting was taking a back seat to my grief and mourning. It wasn’t my proudest time. I remember my husband telling me, ‘It’s not like she’s dead. We still have our baby.’ While that was true, and while I still hold some guilt for the way I handled that time, I was mourning the loss of the life I had dreamed about, and of the parenting experience, I had anticipated. To me, it felt like a death.

Courtesy of Mariah Gillaspie

That year, we spent my daughter’s first birthday in the ICU. Along with Halloween, Christmas, New Years, and my thirtieth birthday. This was our new normal. Over time, we got used to the hospitalizations, the appointments with specialists, having therapists in and out of our home every day, and all the medical equipment that had to find a place somewhere in our 780-square foot house. Our daughter couldn’t hold her head up, she didn’t make eye contact, she couldn’t use her limbs purposefully to reach for toys, and she ate completely through a tube in her belly. The developmental gap between Emma and other kiddos her age grew, and on outings they would comment on how big my ‘baby’ was, not realizing she was already a year old. I used to lie about her age, telling people she was much younger to avoid questions on why she wasn’t walking or talking.

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But also over time, we started smiling again. We started laughing again. Our new normal became a beautiful, be it unique, life. And while it may have been different than most, it was ours. We were happy in our own little family bubble. Emma was perfect in her own way, we were proud of her for her ‘inch-stone’ accomplishments, and we cherished every bit of her special self. And with this progress towards acceptance and positivity, we decided to give in to our desire for another baby. We wanted to grow our family.

Courtesy of Mariah Gillaspie

It wasn’t that we needed ‘saving.’ We truly cherish Emma for exactly who she is, and we’re proud of her beyond belief. But a second child gave us excitement for a parenting experience we hadn’t yet had. It was going to be a bright light in our sometimes-dim reality. Our new addition was going to boost the energy of the family and be motivation and encouragement to a big sister. Looking back, what a burden we put on this tiny unborn child making its home in my belly.

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Abby Elizabeth was born almost 2 years to the day after Emma. She didn’t have that signature head full of hair, but she had the same sweet face and made herself just as comfy snuggled into my neck. She was perfect, and my mom heart grew bigger than I knew was possible. And once again, though our dreams may have shifted along the way, we were back on track. Imagining a future full of hope and health and happiness.

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It didn’t last long though… those naïve dreams. We were learning life doesn’t always go by your plan, and curveballs could be launched at you at any moment. We had done genetic testing; it had come back normal. Doctors told us it was a less than five percent chance it would happen again. During my second pregnancy, I had never once felt nervous, because things like that didn’t happen to us… at least, not twice. It was NOT going to happen again.

Meredith Moran Photography

But there was an eye roll I couldn’t deny. An eye roll I had seen hundreds of times before in Emma, I was now seeing in Abby. At first, I hardly let my conscious mind admit it. I tried to bury my fears and chalked it up to paranoia. A reaction to the traumatic experience we had with Emma. But as the eye rolls continued and crunching movements started, I had to say it out loud. I told my husband, ‘I think it’s happening again.’

Courtesy of Mariah Gillaspie

I remember the family pow-wow. I sat numb and defeated on the floor of the nursery as we figured out what to do. Our pediatrician had ordered an EEG for later that week, but the waiting was torture, and if Abby was having infantile spasms, they needed to be treated as the emergency that they are. We reluctantly packed a bag and headed to the ER with our 6-week old baby.

Courtesy of Mariah Gillaspie

Another overnight EEG, another diagnosis, and another ‘worst day of our lives,’ it was confirmed. Emma and Abby had the same disease. Lightning had struck twice. My husband later told me he knew the moment the doctor walked into our room that we were getting bad news. Her face full of sympathy told us everything we needed to know.

Courtesy of Mariah Gillaspie

I knew we were at a crossroads. Either give in to the grief and pain, wallow in the self-pity, and live in survival mode. Or pick ourselves up, make the best of an awful situation, and fight like a mother for our children. The answer was obvious. We started our mission to figure out what was causing this disease in our girls. We pursued the most extensive genetic testing available. And while the results came back technically inconclusive, they had been able to isolate a gene that was suspicious. We had our first clue! Both copies of the THAP12 gene were broken in Emma and Abby, one bad copy passed down from me, and one from my husband. But the caveat… Emma and Abby are the only two known cases IN THE WORLD of this gene causing disease. Doctors let us know there was nothing known about this gene, and that we would have to wait for science to catch up. Their ‘Good luck’ as we walked out the door felt like a kick in the gut.

Courtesy of Mariah Gillaspie

But hell hath no fury like a mother on a mission to save her children. Waiting for science to catch up just wasn’t an option. My daughters were suffering every day, I didn’t have time to wait. I decided I had to take things into my own hands. I would have to force science to catch up. And thus, The Lightning and Love Foundation was born. I got to work raising funds, contacting every scientist I could find, and attending every genetic conference available. I drank countless cups of reheated coffee behind my computer screen trying to parse through research papers that seemed to be written in gibberish. With a lot of determination and a decent amount of luck, we made progress. We now have a genetically engineered Zebrafish undergoing EEG’s and MRI’s across three different countries. Our THAP12 mice colony is being bred as we speak, and skin samples from our family are being turned into cell models for research.

Thinking about how far we still have to go is enough to send me into a panic. Somedays, I swear I must be totally crazy. I’m fighting to cure a disease that affects only two people in the world! I have no choice, I’m fighting to save my children’s lives. Whether we are successful or not, I don’t know. I do know there are lots of kids out there just like ours, and if we can move science along a little faster, if Emma and Abby’s lives can help make a positive impact for other children with ignored and ultra-rare diseases, then it’s our responsibility to use our experience to do just that.

Meredith Moran Photography

I sometimes wonder why this happened to us… not once, but twice. But then I look at the sister bond Emma and Abby share, and it all makes sense. Thanks to what we learned in our medical odyssey with Emma (through the ups, but mostly of downs), we have been able to treat Abby’s disease more aggressively. We learned which treatments work, which ones don’t, and how to advocate for out-of-the-box methods no one would agree to for Emma, but that doctors were willing to try for Abby because… well… I insisted. We did for Abby what I wish we could have done for Emma. If only we had known then what we know now.

Courtesy of Mariah Gillaspie

Thanks to her big sister, Abby doesn’t suffer from the same severity of seizures Emma always has. Thanks to her big sister, Abby has maintained enough cognitive ability to eat by mouth. Thanks to her big sister, Abby has the strength to try to roll, to briefly lift her head on tummy time, and to inhale deeply enough that she can breathe. Thanks to her big sister…

Courtesy of Mariah Gillaspie

But without Abby, if Emma had never had a little sister with the same disease, we would have NEVER been able to isolate a gene. We would NEVER have had a jumping-off point for research. We wouldn’t have a foundation, or Zebrafish, or have heard of the gene THAP12. We would still be trying to treat symptoms rather than fighting for a genetic CURE! Without her little sister, Emma wouldn’t have hope for a dramatically better future.

Emma’s sacrifice of being first is helping her little sister live a less affected life. And Abby’s sacrifice of having the same disease is helping her big sister have hope for a cure. There always had to be two. The world needed both Emma and Abby. These sisters share a deep connection, a bond of an ultra-rare journey, one only shared by two people in the world. And we as parents, get to be their voice. What a privilege.”

Courtesy of Mariah Gillaspie

This story was submitted to Love What Matters by Mariah Gillaspie. You can follow her journey on  Instagram and Facebook. Submit your own story hereand be sure to subscribe to our free email newsletter for our best stories, and YouTube for our best videos.

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