Emma’s Story

On October 5th, 2012 in the early hours of the morning our precious Emma was born at Caldwell Memorial Hospital in Lenoir, North Carolina. I had a scheduled c-section for 5 days later but she decided she was ready to come on into this world. She weighed a healthy 7lbs 15oz and was 20 inches long.

I couldn’t see what all was going on because of having a c-section so when I didn’t hear her cry at first I got a little worried. Then after a few minutes I heard her cry and instantly felt relief. They handed her to me and she had a head full of beautiful brown hair and the cutest chubby cheeks. She was the most beautiful little girl we had ever seen. It’s hard to explain though, but when I first saw her I had this feeling that something wasn’t quite right. I don’t know why. She looked perfect and they said everything was fine. I guess it was just my mother’s intuition or something! But I just kind of kept it to myself because I thought maybe I was just nervous because I was starting over again with a newborn. My son was 11 when she was born so it
really was like starting over.

We then got back to the room and got settled and they brought her in and the nurse suggested I go ahead and try to breastfeed her. She would have trouble latching on and when she did
she would suck once or twice and then immediately fall back asleep. We tried a bunch of different ways to try and alert her but we couldn’t get her to arouse. We could get her to eat some but very little. She just kept constantly falling back asleep. The next day came and we had family and friends come to visit. Everything seemed fine except her extreme sleepiness.

That night on her second day of life the nurse took Emma into the nursery so we could get some rest and then a few hours later our life changed in a instant. I will never forget that day for the rest of my life. The nurse came in and said there is no easy way to tell you this
but your daughter had a seizure and she stopped breathing! We were in total shock to say the least. She said we are going to have to transport her to Catawba Valley Medical Center to the NICU. So they came in and explained what all was going to happen and they said they would take care of her until we could come too. We weren’t able to go with her because I had to wait for my doctor to discharge me. So we had to just wait while she left alone without us. It was so scary.

A few hours later my doctor came and discharged me so we could be with her.When we arrived she was on a breathing machine and hooked up to all these wires and tubes. Very scary sight and totally different than when we last saw her. Once minute your new baby is fine then the next minute it’s a totally different situation.. They had ran numerous tests on her. Blood
work, MRI, CT scan, spinal tap, EEG and more. All were initially normal except for the EEG. The EEG didn’t show seizures but it was abnormal from the very beginning. We stayed at that
hospital for 8 days and they couldn’t figure out what the problem was. All the tests they ran were completely normal.

So then they transferred us to a specialized Children’s Hospital. Levine’s Children’s Hospital in
Charlotte, NC. We were just hoping we would get some type of answers since she was being transferred to a more advanced bigger hospital. There it was more testing with still no answers. Emma was still very very sleepy and still had an abnormal EEG. She wasn’t still having seizures according to the EEG but we could not get her to wake up hardly at all. When she did wake up for a few moments her eye movements were uncontrollable. They would like jump around in her head and she couldn’t focus or look at anything. She also still would not wake up to eat so she had a feeding tube in her nose. One of our goals before we could leave the hospital since her seizures were under control was to have her take a bottle. Finally after a little over a month she started to wake up some to take the bottle but then she would make some forward progress with it and then she would go backwards. So she would get the tube out and then have to get it put back in. Finally after 2 1/2 months in NICU she was taking the bottle and we could head home, but still with no answers as to what caused all of this.

It was right before Christmas when we got to go home. We made it home one week before Christmas. We were all so thankful to be home for the holidays. We had tons of follow up
appointments within the next few months. We then got referred to Duke hospital when Emma was about 8 months old and they did the whole gene sequencing on Emma, my husband and I. We got the results about 3 to 4 months later that she had a de novo KCNQ2 gene mutation. We were like what?? Of course we had never heard of it and neither had the geneticist really. He had heard of maybe a couple more cases but that was it! So we still felt lost. When asked what that means for her future, what to expect next. We just heard “we really don’t know.”

So when I got home I immediately starting Googling trying to find answers. That’s when
I found a Facebook Page created for a little boy in Canada that has the same condition, Mike’s Fight. I messaged the page and they told me about the Jack’s Army and the parent Facebook page. So I joined the Facebook page and Jack’s Army and they have both been such a blessing. Finally we felt like there were actually other people out there that understood. We finally didn’t feel alone after about a year.

Emma’s seizures were sill under control but she still slept a ton and wasn’t really making any developmental progress. She then started having infantile spasms when she was about 7-8 months old. She was on numerous medications to get them under control but nothing really seemed to help her and if did help her some it would literally make her sleep for close to 24 hrs a day. She finally we think just outgrew them when she was a little over a year old but they really set her back even more than she already was. Then because of her constantly sleeping from the medications now she wasn’t able to wake up to eat so she had to get a g-tube placed a month before her first birthday. We were scared at first to do it but it has truly been a godsend for her. Without the feeding tube she may not still be with us here today.

Emma is now close to 3 years old. She is not able to sit up, walk or talk yet but we are not losing hope that some day she might! And if she doesn’t that is ok too. We just want to help her in every way that we can. She is much more awake now and her seizures are under control. She works so hard in all of her therapies every week and we are so so proud of her! Her smile is so amazing. It will make anyone’s day better and light up the whole room. We just try to take
everyday one day at a time and just give her the best care and all the love that we can. She is such a blessing to our whole family. We are all so thankful for this foundation and all of the work they are doing to find better treatment and/or a cure for all of our precious children. Thank you from the bottom of our hearts!!