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Tuesday, April 8, 2014

Isla Rose Update

 

  First off, I want to thank each and every one of you that take the time to keep up with our Isla Rose, encourage us, lift us up in your prayers, your thoughts and your hearts.  It has meant so much to us over the past 9 months since finding out about her condition.

It has been a while since I have been able to update everyone on Isla's condition. The reason for that is simple, no answers…..not until three weeks ago when we got a call from the Genetics Counselor at Duke Medicine.  Douglas and I have had many sleepless nights and discussions over dinner or waking up in the middle of the night just to talk about things that were wondering on our mind but we never, for a minute, lost our hope.

You may recall THIS post, where I explained that Isla's first genetics testing results revealed that she had one variant of unclear significance in the CRB1 gene.  Since testing of the 19 genes associated with LCA did not provide a definitive explanation for Isla's eye findings, additional testing was pursued.

On December 22nd, 2013, we got a call from Duke and they requested that additional testing through the Retinal Dystrophy Panel through Casey Eye Institute.  So, of course we accepted.  We then scheduled Isla an appointment with the Levine's Children Center to have several tubes of blood drawn and sent out to The Casey Eye Institute in Portland, OR. 

Over the past 4 1/2 months, they investigated 110 other genes associated with retinal dystrophies besides LCA, which can present similar symptoms. The Retinal Dystrophy Panel did not identify any other genetic variations which would provide explanation for Isla's nystagmus, low vision, possible blindness, abnormal ERG and clinical diagnosis of LCA remains unclear. 

In a nutshell,
our genetic counselor told us in two words
Results:  Inconclusive

We may not ever know the answers for Isla's loss of vision.

At that very moment of what would seem like terrible news to most people, I felt somewhat relieved. I know it sounds weird or maybe even a bit crazy to some people who are reading this but I felt like this was the answer I needed and had hoped for. Maybe it was part of me not wanting to accept a specific diagnosis, or maybe because all this time we keep thinking she is different from what they are categorizing her in. As a parent, you want answers.  Answers that will ease your mind but I truly feel OK with the answers (results) we have for now even though the summer morning in July while standing in the eye doctor getting results for the first time that our daughter was "blind" still crosses my mind. We will continue to have lots of questions run through our minds and try to understand what is going on with Isla's eyes but for now we are putting all of our focus on raising her as normal as possible and getting her the best therapy and help she needs to help her thrive and develop.

Our next steps:
There are a group of colleagues in the Division of Medical Genetics that are currently enrolling patients for a new research study for additional genetic testing, known as the "Whole Exome Sequencing" so we are currently heading to Duke in June to learn a bit more about this study and to get Isla enrolled. We are excited to learn more about this study and I will keep you posted after our visit and when we get things get started.

We are scheduled to see her regular eye doctor at Charlotte Eye, Ear, Nose and Throat to find out if she will need to start wearing her glasses again.  They will be the same cute little pink Miraflex glasses she wore before but more than likely a new prescription lens to help increase her vision while exploring around!

How is she doing now?
Some of this news may be redundant to those who follow me on Facebook or even Instagram but for those who don't, Isla Rose is doing great.  Her Nystagmus seems to be decreasing but sometimes when she gets overly tired during therapy, it seems to want to start up and she tends to put her hand over her left eye, which is a common LCA trait.  She also tries to turn her head in the most awkward positions so that she can "see" some of her toys, lights or just anything in general she's trying to focus on {she's earned the little nickname, Little Owl}. 
She has vision therapy weekly and pediatric theraplay twice a month. We focus on visual stimulation and also teaching her how to move her body in ways to help her thrive, crawl and eventually walk. Just over the past week, she has conquered both crawling and pulling up to stand and just over the weekend she started to pace back and forth from side to side while holding on to the couch or our leg. We're pretty sure she'll be walking by her 1st Birthday!!! We are so proud of how far she has come.  

Every day, I believe and trust His plan for her.
It hasn't been an easy road knowing that our daughter may or may not see like we can, but I will tell you this....I believe our daughter's vision has has improved along the way and I don't want to think about any of the negative or the possibility of her losing it as she gets older...I just want to soak in these moments of what she is accomplishing and hope that her vision does continue to improve.

I often dream of her standing at the waters edge and turning back to look at me. There's a lot I dream about her but I could write a book about all those details!!  When it's just she and I here at the house playing and doing our thing, I sometimes just sit back and watch her. Watch how she uses her hands to find and feel her way through things.  I giggle at how she smells everything and of course puts things to her mouth to taste test and how she throws it to the side or behind her if she doesn't like the way it tastes, feels or smells.....all her senses are quite amazing.  She knows when someone is standing in the room before they even speak to her. One thing we are working on is getting her use to being around people she doesn't know. She is very sensitive to people and voices she is not familiar with and at times it frightens her. We hope that's just part of a phase she's going through. It's all a learning process - for us all.

Exciting News Update:
 I would like to announce that we are getting ready to kick off our team "Isla's Eyes" for the the second year in a row at this years Charlotte Vision Walk.

Details:
Team Name:  Isla's Eyes
Date: October 18, 2014
Registration: 9:00 a.m.
Walk Start: 10:00 a.m.
Location: Symphony Park, South Park Mall, Charlotte
Walk
Chair: Trent Scovell, Bank of America-Merrill Lynch

Stay tuned in for more details! 
Our team would love your support again this year and we would love to see you all there.

  



"Walk by Faith, Not by Sight"



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