Our sweet Ellie Kate has kept us on our toes from the very beginning. When I was 20 weeks pregnant, I had a scheduled sonogram that ended with my OBGYN referring me to another doctor for a Level 2 Sonogram. They believed she had clubfeet and wanted to get a closer look at her heart and brain. This was a nerve-wracking appointment that ended with just being told she had club feet. We could handle that! We would soon find out we would be dealing with much more.
On March 15, 2017, EK decided to make her appearance. I had a quick and easy C-Section. After I reached the recovery room, I tried feeding her without success. I didn’t think anything of it until they told me she was being taken to the NICU to monitor her blood sugar. They said she could come out once they regulated her to a more comfortable level. While in the NICU, she began having what they thought were tremors, and her heart rate and oxygen levels were dropping. She was airlifted to Children’s Hospital in Dallas, TX, at two days old. While in the helicopter, they treated her for seizures because she had a pretty intense episode. After my husband and I made the 2-hour drive, we arrived at the Children’s Hospital NICU to see our sweet girl having an EEG done. They saw what they believed were seizures, but nothing showed up on the EEG. We were in Dallas for five weeks- 5 weeks of endless tests and blood work, various specialists, yet still no explanations. Finally, Ellie Kate was sent home with the following diagnoses: Seizures, Developmental Delays, Clubfeet, Hip Dysplasia, Heart Murmur, and Hypotonia. Even with these diagnoses, we still didn’t know the bigger picture. Every test that was done came back normal.
Our family has finally reunited again, and Ellie Kate’s big brother finally got to hold her for the first time! Life was beautiful, and all seemed well. However, it wasn’t even a week of being home before we saw these seizure-like episodes return. After her first trip to the ER in September 2017, she was driven by ambulance back to Children’s in Dallas. This was when she had her third EEG. We began to feel frustrated and helpless. Ellie Kate was on seizure and reflux meds and received PT, OT, and ST. By this point, she had 5 EEGs, an EKG, a CT scan, MRI, a Microarray test, Epilepsy 134 Panel, an X-ray, and many other lab tests done. It seemed as if we were stuck in a rut.
In July 2018, we switched to Texas Children’s Hospital in Houston for a second opinion. They hit the ground running with us! They immediately said we needed to have the Whole Exome Sequencing test done to have a deeper and more thorough look into her genetic makeup. Insurance has not been on our side, so this took a lot of fighting and advocating on our and our Genetic Counselor’s ends. In October, we were finally able to have the test done! Throughout this whole process, Ellie Kate was still experiencing these episodes. The gap in her developmental delays was growing. She is still non-verbal, drinks formula from a bottle, and eats puréed baby food. She has now added Sleep Apnea to her list of diagnoses at this point.
Fast forward to Wednesday, February 13, 2019. We received a message that her WES test results were in, and they found a diagnosis. According to the results, there is a mutation in her ATP1A3 gene; her specific mutation hasn’t been documented before. My husband and I were ecstatic to have an actual answer finally! We obviously would have loved a different solution, but a huge weight has been lifted by having an actual diagnosis. Her having AHC makes her 1-in-1,000,000- which we always knew was special and unique!
So what is a day in the life of AHC like? Ellie Kate’s episodes consist of her eyes ticking back and forth or just one eye going off to the side. She either has one arm get stiff, or her whole body will tense up. Then, she will go from that to being completely lifeless and limp. She turns grey, and projectile vomits multiple times on her bad days. Every episode, no matter how mild or severe, consists of labored breathing and wheezing. She has had 911 called four times for her. We are used to these episodes, but every time is so scary. It is not fun to watch and to feel so helpless.
In these moments, we snuggle, brush her hair (it seems to relax her!), and sing. Once she is asleep, she is better. If she doesn’t rest from it long enough, she typically returns to one when she wakes up. Unfortunately, she does not get completely better until she is asleep for the night, and the next day is like nothing ever happened! A common factor has appeared to be stress, but many things stress her out. Her ability and mood to be able to do things come and go. She has really good days and then really bad days. She is still working on rolling over and holding her head up, and she is a babbling machine!
Most importantly, though- she is a huge blessing! Her smile lights up a room; she is so infectious! My husband and I, especially our 5-year-old son, have already learned so much from her. We would love nothing more than to help her become successful in whatever way God has planned for her. God chose us as her parents for a reason, and I will not disappoint her! With that being said, we need your help. Unfortunately, alternating Hemiplegia in Childhood is a rare disorder, so that means a lack of funding is available.
There is no cure at this time, only medicine to try to help with the severity and frequency of these episodes of temporary paralysis. Your donation can give these precious children hope!
Psalms 46:5 “God is within her, she will not fall”