It’s
been a while since I blogged just because life gets in the way. Let me break down the past few months.
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Christmas
was great. We enjoyed all the family
time and fun. Peyton seemed to enjoy her
toys this year and we found out she likes shiny wrapping paper. It was really nice that she was so much more
aware this year and loved having her family around her.
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Seizures
– we have had some ups and downs but the bottom line is that she continues to
have them, sometimes one a day, sometimes 10 a day and on one really awful day,
she had close to 70. We recently
completed the wean of Phenobarbital and she did really well with it and we are definitely
seeing her ‘wake up’ more and more. She
is alert a lot of time and is tracking things much better than before. Her co-ordination is better than it was and
she tries a lot harder to grasp at things like her bottle, her spoon, and her
toys. She gets frustrated sometimes and
cries and we think this is simply because she wants to do things that her body
will not allow her to do.
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We
received a call a few weeks ago from the Genetics Department at Chapel Hill
Children’s Hospital - Peyton has been invited to participate in a study where
they will look at her genetic make-up.
It is called Whole Exome Sequencing (WES) This is a paragraph from the NCGenes website
that describes what the study is about.
“Technological developments in the field of
genomics now afford the opportunity to define the complete sequence of an
individual's genome in a rapid and affordable manner. Such "whole genome
sequencing" and its simpler corollary, "whole exome sequencing"
(WES), have already established themselves as powerful research tools. The next
step in the evolution of this technology is its direct application in the
clinical arena to realize improved human health. Yet the translation of
sophisticated genomic technology into the clinical sphere is complex and
presents many challenges involving the technical, logistical, psychosocial and
ethical realms.”
Our purpose in wanting to
participate in this study is to hopefully gain more information about Peyton’s
condition and what caused it. We realize
in the grand scheme of things that it really does not matter, but knowing what
caused this is going to give us some closure maybe or just give it a name. Her neurologist has always said her condition
is most likely due to some underlying undiagnosed genetic variance so this is a
wonderful opportunity to gain some helpful information for Peyton and hopefully
for other children in the future who may have this same genetic variance. We go tomorrow for her appointment with the
geneticist and to have her blood drawn. She
will be in the study for four years and it will basically consist of several
phone interviews over the course of the next few years and her case will be
revisited annually to see if further testing has become available. We will be able to go back in 3 to 4 months for
a follow up appointment to get results from the tests they do. We are quite anxious to get whatever
information we can. Please say a prayer
for us as we travel to Chapel Hill tomorrow.
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This
past Sunday, my dad, who is a pastor at a local church, invited my family to
come and speak about the joys of raising a special needs child for Pro-Life
Sunday. We were very honored that he
asked us to come and in thinking and reflecting over the past two years, I realized
how much more joy we have had than heartache.
Sure, we have had lots of hard, trying and scary days, but by and far,
the good days have far outweighed the bad.
Peyton has brought so many positive things to our lives and we sometimes
forget all the good and focus on the bad.
It was a good experience for our family and allowed us to reflect on all
the things we have to be thankful for and how God has blessed our family with
the gift of Peyton.
The rest of the family is doing well. Both kids are enjoying school and both are having a really good year. I had the flu a few weeks ago and Super Dad took care of everything while I quarantined myself for a week. Thankfully, no one else got infected and we have all been well since then. Here are some current pics….just a hodge podge of this and that.
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