Molly's Story

[dropcap]O[/dropcap]n July 30, 2009, Molly was born at Baptist East Hospital in Louisville, Kentucky. Molly was breech, so she was delivered via a very uneventful, standard Caesarean birth. Initially, Molly seemed a perfect 7lb, 21 inch bouncing baby girl, and we were overjoyed with our now family of five.

During her first night, Molly became very sleepy and lost interest in breastfeeding. On the 31st, she started shaking, but the nurses thought it was just low blood sugar because she was not eating well.  Around Noon that day, Molly had her first documented seizure and was immediately transferred downtown to Kosair Children’s Hospital. Her labs, MRI and CAT scan all came back normal, but the seizures didn’t stop.

A regimen of Phenobarbital, Keppra and Dilantin was started, but the seizures kept coming.
Molly spent nearly a month highly sedated from the medication and on a feeding tube in the Kosair NICU while the doctors tried everything they could to get the seizures under control.  Some days were better than others, but the wonderful, caring people we met during our stay at Kosair helped us every step of the way and has become a phenomenal network.

Molly finally got to come home September 3, 2009 with a diagnosis of KCNQ2 mutation, with the hope that her seizures would stop and she would develop normally. The first six months of Molly’s life were spent in and out of Kosair trying to control the seizures.  Molly's EEGs continued to show seizure activity, so her Neurologist weaned her off Dilantin and Keppra and started the medication Trileptal.

When Molly began having delays in her development, her Neurologist and Geneticist started looking into other genetic mutations because most children in 2009 and before that were diagnosed with the KCNQ2 mutation did not exhibit the delays she was presenting.

We started seeing other specialists outside of Kentucky and visited The Cleveland Clinic where the Neurologist we met with discounted the KCNQ2 mutation as well and tested Molly for other mutations and syndromes. This continued until the fall of 2013 when we decided to do receive gene-sequencing test on Molly, my husband Chris and myself.  The results came back in May 2014, with de novo KCNQ2 mutation only.  After additional research, our Neurologist confirmed that there are more severe cases that present with significant developmental delays.  That very afternoon we found a new support group in Jack’s Army!

Molly continues to get therapy both at Harmony Elementary and The Kids Center in Louisville, Kentucky.  She continues to struggle with feeding, but can eat a mashed/puréed diet.  She is not verbal or mobile.  She has Cortical Visual Impairment and has had surgery for her Strabismus.

Molly is a beautiful addition to our family.  Without her presence, I wouldn't have met some of the most wonderful nurses, doctors, therapists, special education teachers and special needs parents in the world. Along with our family and friends, these individuals are truly are lifeline and support.

Molly allows me to see the ability in her disabilities every day, and I thank God for that gift.