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 to have a Level 2 Sonogram. They believed she had clubfeet, and also 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 clubfeet. 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 made it to the recovery room, I tried feeding her without any 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 once they regulated her to a more comfortable level she could come out. While in the NICU, she began having what they thought were tremors and her heart rate and oxygen levels were dropping. At two days old she was airlifted to Children’s Hospital in Dallas, TX. 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 being done. They saw what they believed were seizures, but nothing showed up on the EEG. We were in Dallas for 5 weeks- 5 weeks of endless amounts of tests and blood work, various specialists, yet still no explanations. 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 what the bigger picture was. Every test that was done came back normal.
Our family was finally reunited again, and Ellie Kate’s big brother finally got to hold her for the first time! Life was wonderful and all seemed well. 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 of 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 meds and reflux meds, and she was receiving PT, OT, and ST. By this point, she had 5 EEGs, an EKG, CTscan, MRI, Microarray test, Epilepsy 134 Panel, X-ray, and many other lab tests done. It seemed as if we were stuck in a rut.
In July of 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 make-up. Insurance has not been on our side, so this took a lot of fighting and advocating on our end and on our Genetic Counselor’s end. In October we were finally able to have the test done! Through out this whole process Ellie Kate was still experiencing these episodes. The gap in her developmental delays were growing. She still is non-verbal, and still drinks formula from a bottle and eats puréed baby food. She has now added Sleep Apnea to her list of diagnoses at this point as well.
Fast forward to Wednesday, February 13, 2019. We received a message that her WES test results were in, and they found a diagnosis. There is a mutation in her ATP1A3 gene; her specific mutation hasn’t been documented before according to the results. My husband and I were ecstatic to finally have an actual answer! We obviously would have loved a different answer, but a huge weight has been lifted having an actual diagnosis. Her having AHC makes her 1-in-1,000,000- which we always knew she was special and unique!
So what is a day in the life of AHC like? Ellie Kate’s episodes consists of her eyes ticking back and forth, or just one eye going off to the side. She either has one arm get really stiff, or her whole body will tense up. She will go from that to just being completely lifeless and limp. On her really bad days, she turns grey and projectile vomits multiple time. Every episode, no matter how mild or severe, consists of labored breathing and wheezing. She has had 911 called 4 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 goes back into one when she wakes up. She does not get completely better until she is asleep for the night, and then the next day is like nothing ever happened! A common factor has appeared to be stress, but a lot of things stress her out. Her ability and mood to be able to do things comes and goes. 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, and especially our 5 year old son, have learned so much from her already. 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 let her down! With that being said, we need your help. Alternating Hemiplegia of 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”