Emarie’s Story 

Sarah, Emarie’s mom, says, “Emarie, a spirited and energetic three-year-old, is the youngest child in our loud and large blended family of 6 kids!” She has great verbal skills, a strong memory (which gets us in trouble at times) and loves swimming and playing with her siblings.

Variant: c.5588_5589del (p.Leu1863Argfs*9)

History 

Emarie was born a perfect, healthy baby of a full-term pregnancy. She hit all her milestones right on time, trying to keep up with all of her older siblings…until she was 2 1/2. 

In June 2021, Emarie had her first “episode” (I use that term because we had no idea what happened or what it was at the time.) She had been having a perfectly normal day. We were about to go swimming at a friend's house when, as she was running around, she fell on her stomach. Being a very energetic little girl, falling was nothing out of the norm for her, and this was just an ordinary fall -  nothing concerning - so I expected her to cry a bit, then wipe her tears and jump in the pool. As I held her, she went limp! Now, since she was born, she would stop breathing for a few seconds and kind of turn red when she cried hard. I would blow in her face and she would come right back. We had her checked by the pediatrician who said it wasn’t anything abnormal and she would grow out of it. But when I blew in her face this time, she did not start breathing again. This time was very different. I was terrified. She turned blue, was completely limp, her eyes were rolled up and frozen to the right and then she vomited. I thought she was choking so I put my finger in her mouth, her jaw locked on my finger and I knew then this was very serious. My friend called 911 and we began CPR on her until EMS arrived, which felt like an eternity. The ambulance took us to the ER where they did a CT scan of her head, took chest X-rays and the doctor gave her a full workup. Her vitals were stable and she slept for about three hours, then woke up asking for ice cream. We were discharged and told that it was just a freak thing that should never happen again. She seemed perfectly back to normal, until five weeks later to the day when it happened again. It was another typical day for her…she hadn’t been sick or seemed like anything was off until she woke up from a nap and it looked like her tongue was numb, she couldn’t hold her head or arms up and her pupils were huge and eyes couldn’t focus. I called 911. She vomited and lost consciousness and began to turn blue. Dispatch recommended I do CPR until EMS arrived. Again it felt like an eternity waiting helplessly while my baby was lying lifeless. When we arrived at the ER her vitals were stable and she seemed to be sleeping. They did a chest X-ray, labs, and a full workup. Everything came out normal but the doctor said her ears looked red and he thought she might have a bilateral ear infection. He prescribed amoxicillin, sent us home, and told us she had a febrile seizure and that she should not ever have another one. Her temperature never got above 99 degrees. As we were leaving, the ER doctor informed me that I was overreacting and that kids have seizures sometimes, and even though it may seem very scary, they are usually harmless, and I didn't need to call 911 unless she was unconscious for over 5 minutes. I informed him we live 18 minutes from a hospital, but he stood firm in his advice. As my husband, Clinton, and I left, I had that gut instinct that something else was going on with our baby, and I wanted more answers. At this point, Clinton had never seen Emarie have an episode. By the time he made it to the ER, she looked like she was sleeping. So, of course, it seems as though the doctor was right; maybe I was overreacting?

The road to answers:

With our amazing pediatrician’s help, we started searching for a pediatric neurologist. It was heartbreaking to hear, “We can schedule to see her in 3 months” because she seemed “fine.” We reached out to family and friends, desperate for someone to see her sooner. It was a true blessing that our friend/heart surgeon pulled some strings and get her into a neurologist who scheduled an EEG and MRI in El Paso, TX the following week. We have never been thru anything like this with any of the other five kids so we didn’t know what to expect. Both the EEG and MRI results were normal. We saw the neurologist the day after these tests. He said, “I’m not sure what category to put her in, so I recommend putting her on Keppra for epilepsy.”

We declined that option because we were too scared to start her on any drugs without knowing what was really going on, as it just didn’t make any sense. We went home to continue searching for answers when Emarie had another episode five days later. Thankfully we were in town, so the EMS arrived fast, and the ER doctor was able to see her eyes frozen up and to the right. She administered Keppra and Benadryl for what she called her eyes' “oculogyric crisis” and recommended continuing with those drugs until we could see a neurologist. We were lost and confused and still felt like we had no clue as to what was really happening with Emarie. We were scared of the unknown possible side effects and how she would react to this, but we were convinced that the risk of her continuing to have these “unknown episodes” was more dangerous than the side effects of the medication. However, she was affected by "Keppra rage," so the neurologist put her on another AED, which made her look "drunk." Still, she stayed on it until we could get into Children's Hospital, Colorado. At our first appointment, the doctor recommended genetic testing for an epilepsy panel. We had no clue this was an option but were happy to try anything. Two weeks later, her results came back positive for a pathogenic CACNA1A Variant, loss of function.

Emarie had another EEG in Denver in March 2022 that showed seizure activity during sleep. The neurologist also feels that the episodes she continues to have every 4-to six weeks are related to episodic ataxia. Still, she is not ruling out that she could be having a seizure due to her loss of eye control.

Emarie seems to struggle when she gets really upset and cries hard. She also seems to go downhill quickly when she isn’t feeling well. She also falls a lot, which we thought was due to her being so busy and active, but we have noticed she gets dizzy easily and that seems to throw her off quickly. She is a very strong-willed little girl, and it is tough to get her off a specific topic when she is determined to do or have something. We have also recently noticed she likes to “pinch” with her thumb and pointer finger. She constantly will pinch the tops of people's hands and shakes; it seems satisfying to her, especially when she seems nervous. We have learned so much over these past 10 months and we are doing our best to identify triggers and document them as much as possible. And at the same time, question, “Is this a side effect of the medication or CACNA1A?” This has been a particular struggle for me as I want to just wrap her in a bubble and protect her from anything that could possibly cause an episode. Thankfully my husband and all our support system continue to encourage me to just take a deep breath and allow her to live her life without fear. Easier said than done some days for sure!

Therapies

It was only recently that we were able to get Emarie screened by PT, OT, speech and cognitive therapy for DD preschool. When I first started to look into therapy, they thought I was a little crazy because she doesn’t seem to need any therapies. Thankfully we have been encouraged not to take no for an answer and advocate to set her up for success now and not wait until we might see deficits later. We feel very blessed that the school diagnostician and several therapists have gone to the CACNA1A Foundation’s website and watched webinars. As a result, they ask great questions and have thought of suggestions based on what they learned about those with CACNA1A variants. We cannot wait to have her IEP next week and get her started, as I know they will do great things with her!

For Those Newly Diagnosed

I had no clue what the diagnosis meant and wasn’t sure if this was a good thing or not. I began researching and honestly felt lost and confused. Our genetic counselor at Colorado Children’s Hospital recommended looking at the CACNA1A Foundation’s website. I was immediately relieved. We weren’t alone! We had access to information that was easy to comprehend. It only took one email to the info@cacna1a.org on the website to receive a phone call where Lisa, the President, gave me plenty of time to ask questions, lots and lots of them! I can honestly say the connection to this Foundation has truly changed our lives. We now have access to families/doctors/research opportunities, events, and unlimited resources. My goal is to join forces with these incredible moms who have poured the last two years of their lives into creating and building this life-changing Foundation. For anyone newly diagnosed or just still seeking more, I highly recommend reaching out to get plugged in. I promise they will welcome you with open arms and support you in any way! There is so much hope and possibilities for our CACNA1A loved ones' futures. All we need to do is join together!