Ava2

Ava’s Story

Ava arrived by natural childbirth at 38 weeks on April 9, 2007. Born a seemingly healthy 7lb 4oz baby girl and scoring nines on her Apgar screenings, we quickly settled into the joy of our newest family member.

During her first day of life all seemed fine, until we noticed a stiffening motion course through her tiny body. The day nurse assured us it was infant gas. Ava was our second child, and we were eager to get her home and start our new family of four. By the grace of God, discharge paperwork was slow to be completed, so we had to stay an extra night in the hospital. It was that night that Ava’s night nurse noticed her stretching movements, and at 4 AM, entered my room to tell me they had placed her in the NICU for clinically diagnosed seizures. My world stopped and all focus shifted to finding strength to manage care for my little girl, whom just hours earlier I had kissed for the first time.

After a few tests, we were given the option to send our baby girl to Texas Children’s Hospital in Houston, TX. We graciously accepted, and our two-hour drive behind the ambulance is one I will never forget. The transport team was amazing, and we knew we had made the right decision.

Upon arrival at TX Children’s, the on-call NICU III neonatologist was not as convinced there was anything wrong with our child and said she “looked too healthy to be here.” After capturing her seizures via EEG, he accepted the fact our daughter was not well. By this time, she was having multiple seizures every hour, but they did not fit the standard patterns of other neonatal seizure disorders they were accustomed to treating. Numerous diagnostic tests were run, including MRIs, EEGs, spinal taps, and genetic and metabolic tests. The doctors could not find a physical cause for Ava’s seizing. There was nothing more they could do for her and she was thriving, so we were sent home after a month’s stay. While Ava’s seizures decreased with medications, they were still occurring multiple times a day.

We started occupational therapy immediately. Physical therapy and speech therapy (for feeding) were soon to follow. Before turning one year old, Ava had good seizure control with a single medication, Trileptal. Even once the seizures were controlled, Ava would continue to develop at a very slow pace.  Our monthly specialist visits included neurologist, ophthalmologist, genetics, ENT, and developmental pediatrician.

Despite years of repeat testing, we could not find answers for why Ava was not reaching her developmental milestones. With the help of her continued therapies, she eventually would walk independently (age 3) and speak her needs (age 6). At 7 years old, she still struggles with intellectual disabilities, low muscle tone, weakness, vision impairment, sensory processing, and coordination to name a few. One area our girl has ALWAYS excelled would be her sweet, happy disposition towards life.

After taking a two-year break from searching for answers, we decided to pursue the Whole Exome Sequencing test being offered by Baylor Medical via TX Children’s Genetics clinic in 2013. It was a six month wait for results with only 25% chance of finding a diagnosis. We were beyond words when Ava was diagnosed with KCNQ2 Encephalopathy just shy of her 7th birthday. Her geneticist told us this was a fairly new genetic development and a match that would not have been relatable to her clinical symptoms just a few years earlier. While it does not change how we serve her needs, it does mean hope for future treatments to improve the quality of life for all who strive to overcome this disorder. I am so very proud of my girl and her accomplishments to date.

Thank you, Jack’s Army, for leading the charge and promoting a better future for our children!