Thursday, May 31, 2012


Finally falling asleep at 6am.
Sleep......This is something that has not come easy to me.  For unknown reasons my sleep patterns had been extremely erratic.  Over the last 4 weeks I have started to develop a pattern.  Every night Mommy and Daddy get me to bed and somewhere between midnight and 2am I wake-up screaming, inconsolable for most of the time and usually stay up until 6 or 7am. The problem this causes is that I now want to sleep when my therapist are scheduled so it makes for a constant battle trying to make sure I don't fall asleep during my PT/OT, which happened twice this week already.  I'm scheduled to go to the sleep clinic at Children's next week.  While there is a part of my non-sleeping that has become behavioral, the doctors are again concerned.

Mmmmmm.  Frozen french toast stick.

Teeth.....Just like my brother I'm a drool machine.  It is crazy how much of that stuff comes out of me on any given day.  I'm teething like any other baby, but the problem is I want to chew on my hands ALL the time.  This does not go well for my therapist.  We have had to put OT on hold for awhile since I am not showing any interest in toys or using my hands to play with much of anything (I'm more of a fan of chewing on my hands and clapping).  I have however started using my hands to try and self feed.  My Speech therapist is so proud and I have even started trying to hold my bottle on my own.

Working hard on holding my bottle.

Eyes.....Even though I have had two eye exams that felt I had no vision impairments my OT and pediatrician both feel there is a good chance I have severe nearsightedness.  My past eye exams have been relatively brief with no dilation so I'm back off to Children's (seems to be my home away from home these days) for an extensive workup.  We are hoping that some vision issues would explain my lack of interests in toys and that with glasses I will begin to progress with my fine motor skills.  If not then we are kind of at a road block and hope that with time I develop interest in interacting with toys.

Working on putting weight on my arms and knees.
Hanging with Ms. Kelly in the backyard.

With all the testing done over the course of the last 10 months we finally got a call that the genetic team at Children's found a genetic abnormality.  KCNQ2 is the gene location in my brain where the abnormality is located.  Daddy has been working hard in researching and came across a family who has a little boy who suffers from an abnormality in the same location.  His family has started a foundation "Jack's Army" and has located a doctor at Baylor who has taken "this gene" on as his cause.  He is working on trying to find a cure for this potassium voltage-gated channel abnormality.  This makes me one of only a few children in North America that suffer this abnormality.  

About KCNQ2

What is KCNQ2?
KCNQ2 is a gene involved in the proper functioning of a potassium channel in the brain. Abnormal changes, or mutations, in the gene are associated with seizures. KCNQ2- related epilepsies represent a spectrum of conditions from mild to severe. For over 10 years, mutations in the gene were associated with a mild condition called "Benign Familial Neonatal Convulsions" or BFNC. Babies with BFNC have seizures that begin shortly after birth and then stop within several months. Development is usually normal. BFNC may run in families, as the name implies.
Researchers recently identified different mutations in KCNQ2 that are associated with a severe form of neonatal epilepsy namedKCNQ2 encephalopathy. The severe form is always associated with moderate to severe developmental problems, but fortunately most information available regarding KCNQ2 refers to the mild form of BFNC.

How is KCNQ2- related epilepsy diagnosed?
Diagnosis depends on careful review of the clinical history, the examination of the patient by a pediatric neurologist, and an electroencephalogram (EEG or brain-wave test).  In all cases of KCNQ2 encephalopathy, seizures begin shortly after birth and the EEG is initially abnormal.  When babies begin to exhibit symptoms, their doctor will send tests to determine the underlying cause.  This may involve MRI of the brain and examining samples of blood, urine, and cerebrospinal fluid.  If other treatable causes are not found, testing for KCNQ2 mutations may be done.

What is the Treatment?
At this time, there is no specific treatment for KCNQ2-related epilepsy.  Once babies are diagnosed, they may be given medications to prevent seizures.  If medications are not effective, sometimes other treatments such as steroids or a special “Ketogenic diet” may be tried.  Intensive therapy is essential to achieve the best developmental outcome possible.

What is the prognosis?
Of patients reported in the medical literature, prognosis appears to be variable. Seizures may eventually come under control with medication. Most, but not all, children will have fewer or no seizures after approximately age 3 years, but developmental delays will become more evident as the child grows older. In the majority of KCNQ2 cases reported in the medical literature, the child is slow to speak and is dependent on caregivers.  Early diagnosis by genetic testing may avoid unnecessary evaluations for other causes.  Hopefully, specific treatments that lead to a better outcome may be discovered in the future.

My favorite thing....hanging with my big brother.

Wednesday, May 9, 2012


What a ride this past year has been.  Wednesday, May 2nd was my birthday.  I decided to spend it at home with Mommy, Aunt Destin, and Uncle Widg and my therapists.  It was a day high in moment celebrating everything we are thankful for and the next remembering the sudden change of emotion a year ago in the hospital from joy to devastation when we found out I was having seizures.

Children's Hospital 1 week old.  Aidan's first poopy diaper assist.

Saturday was a better day.  We celebrated my Birthday with those who are an integral part of my recovery and have been an ongoing and constant support for my family.  It was wonderful day.  I was surrounded by so much love.  Marmee and Papou were in town and all my therapists were able to join.  Aidan and Mommy fed me my first taste of Chocolate cake (Aidan wanted me to have chocolate with blue since he says he is tired of seeing pink.) 

Check out my rockin dress that Aunt Destin made me

mmmmmmm cake

Oh yes.....Aunt Destin made a hat to go with the outfit as well.

We met with my pediatrician for my one year check-up and things seem to be going well.  I am 22 lbs and solid.  My tummy issues are improving on a special formula which I will have to remain on for a year.  I am slowly adding new foods to my diet, trying to stay off baby food while finding finger foods I can eat with my low tone in my face.  I continue to work on sitting which is slowly improving and I might even pass trying to crawl and try going straight to standing as I am NOT a fan of putting weight on my arms.  Daddy is had at work with my doctors constantly researching to find anyone who might have an idea of my disorder.  I continue to have therapy 5 times a week which keeps me on my toes, but I am up to the challenge.

Many people have been emailing Mommy for updates since we have not been updating the blog as often.  Mommy and I decided we will do monthly updates to keep everyone up to date on my progress.  Again thank you to everyone for all your positive thoughts and prayers we are so lucky to be surrounded by such amazing people.

Tuesday, May 1, 2012

May Day....

After getting settled and back on track from our trip to Louisiana normalcy returned.  Well not really.  I was pooping great while in La....maybe it was the humidity.  After a week back in Denver My tummy trouble slowing have been coming back.  We are still trying to figure things out.  I'm not quite back on track with my sitting as I was before the antibiotics but am making progress.