Why do I want you and others to know about KCNQ2?
KCNQ2 typically presents with seizures during the first week of life.
You need to know about KCNQ2 because if someone you know has a newborn that begins having seizures, they need to know that genetic testing for KCNQ2 should be done.
It could be the difference between life and death for a child to receive the immediate and proper treatment.
(The above photo was found on the KCNQ2Cure Facebook page. Check out their page for more information as well as fundraisers you can participate in.)
March 1st begins KCNQ2 awareness week. For any new readers, my youngest daughter Afton has KCNQ2. This is a genetic abnormality – for her, part of her gene is deleted.(Above: Afton at the children’s hospital & less that two weeks old.)
I decided not to tell her story today because a lot of you have heard it. If you have questions about her history, feel free to leave comments or questions at the end.
Today I want to do a brief introduction of her and what our life is like with KCNQ2.
Before we start, I want to explain to you that most KCNQ2 children have some degree of developmental impairment involving one or more of the following domains: motor, social, language, and cognition.(This is Afton on her way to her first day of the PIP program. It is a local program designed to help kids with delays prepare for Kindergarten.)
Afton is delayed in all of the above, but she is mildly affected compared to so many kids.
Afton is 3 1/2 years old.
How did you know something was wrong?
Afton had her first seizure at two days old and five hours after we were released from the hospital. She was diagnosed with KCNQ2 when she was 6 months old.
How did you react to the diagnosis?
A nurse called me from our neurologist’s office. She explained that Afton had a genetic mutation called KCNQ2. She didn’t know much about it, but the dr mentioned something about it being benign. She said I could google it, and if I wanted the dr to call me to talk further she would.
That’s how most people respond when I tell them that.
But here is the truth: we have lived in two states since Afton was born.
In Mississippi, Afton had a very seasoned pediatrician. I had a very seasoned OB. She was at our local ER with three different drs on three different occasions. She was in the ER at the children’s hospital multiple times & admitted multiple times. During those times I don’t know that we ever had the same general dr or nurse.
She saw the neurologist team there and had two different pediatric neurologists while in Mississippi.
In Georgia, her pediatrician is part of a large practice. We have been through the ER twice here and admitted twice. Her neurologist here is the only pediatric neurologist in our immediate area (so she has a lot of patients.)
In all those visits and all those drs and all those nurses, I have never met one that has ever even heard of KCNQ2.(Currently they have confirmed 700 cases of KCNQ2 in the world. The more people know about KCNQ2, the more people will test for it and they expect that number to increase.)
What does Afton like to do?
She loves music. As a matter of fact, a lot of KCNQ2 kids love music.
She has always had a love for books too!
She is a fan of Shimmer & Shine, Mickey Mouse Clubhouse, Dora the Explorer, Peppa Pig…all the usuals.
She loves being outside and especially jumping on the trampoline.
She likes to take a bath too and go to the swimming pool even though she can’t swim yet.
What is the hardest thing about her diagnosis?
Every day is different, so I’m sure the answer would change from day to day.
But most often I think the hardest part is that KCNQ2 robs me of some simple joys I expected to have with her.
For example on Sunday mornings when service is over and I go to pick her up from the nursery, I see toddlers running up to their moms. They yell “mommy!” They smile and give them a big hug.
The other day my sister was asking her son if he wanted a frozen pizza. His little sister who is just a little younger than Afton responded that she wanted a Frozen pizza – with Elsa and Ana and Olaf!
Those things I hate we’re missing out on.
What are your biggest fears for her?
But I don’t let that in.
It would drive me nuts.
I have never dealt with real fear or anxiety before, but when Afton was a baby I realized I was becoming crippled by fear.
I had found her once having a seizure early in the morning in her crib. It was much more violent than the ones before, and I didn’t know how I could ever sleep again.
I didn’t want to go anywhere or do anything after that. I would sit and watch her nap.
But I had Alexa too, and I realized very quickly that I wasn’t going to be any good to anyone like this.
I remember walking into Afton’s room and speaking out loud declaring she was a child of God. He had complete control over the situation and not me. I was going to trust Him and not live in fear.
Of course there were moments, but that was a turning point for me. It was freeing! So from then on I began to live a day at a time.
I couldn’t change the past and I would only plan for the near future when it came to her. I don’t let my mind wander more than a year or two down the road because worry sets in. Also a lot can happen before that time comes.
My greatest fear now though is that she continues to grow into this beautiful young lady, but her mind and abilities don’t.
I hear all the time that “she’s beautiful!” “You wouldn’t know anything was wrong.”
And while that is kind, you can imagine how dangerous that could be as well. But like I said, I don’t go there.
What are your hopes and dreams for her?
I pray multiple times a day that God will offer her complete healing! Complete – like I want him to heal her gene. That might sound crazy, but I figure if he can raise Lazarus from the dead and give Sarah a baby in her 90s, he can heal Afton.
I don’t know what God’s plan is for her and I pray that God will give me a heart to accept whatever that is. I also know that he knows the desires of my heart, so I figure why not pray for those things as well.
I want her to grow up and get married and have kids without the worry of passing on KCNQ2.
I want her to be a warrior for Christ.
I want her to be an example of how powerful God is.
I believe she can bring others to Christ even if his plan for her is not to be healed.
I just want her to enjoy life….to be happy and feel loved. 💜
I hope and believe we are doing a good job at that already.
For more information on KCNQ2 and how you can help support research go to http://www.kcnq2cure.org.