Bergen Taylor Hightower

Friday, October 24, 2014

Isla Rose Update

On Wednesday, Isla had her eye checkup with her doctor at CEENTA. Because Isla has not been wearing her glasses or the patch (ortopad) over her right eye, the next step is to use Atropine Treatment Drops in her "good eye" (which is her right eye) once a week. This drop basically blurs close-up vision in the better seeing eye. This encourages use of the eye with the poor vision and improves vision (if any) in that eye over time.  We have had mixed feelings about the eye drops.  Mostly because we feel that taking away or blurring what vision she has in her good eye will only delay her in ways she's just starting to gain so much confidence in.  But we want to do what's right and best for Isla's eyes so today we start using the drops. 

Also, we received the results back from Casey Eye Institute via her eye doctor at Duke for the additional testing taken place last month that we did to look for a second finding in the CRB1 gene.  This follow up testing (what they call "deletion/duplication" testing) ended up being normal. The testing was still only able to identify one finding in the CRB1 gene, and this still does not provide us with an explanation for her eye findings that cause her low vision. We will now proceed with the whole exome sequencing study I had talked about  a few months ago. 
Test Results
Results:  No Indel Mutations were identified.
Interpretation:  Isla does not posses a detectable indel mutation in the CRB1 Gene.
Prognosis:  Inconclusive

What could seem very frustrating for others has been somewhat acceptable answers for Douglas and I.  The "not knowing" and the "inconclusive results" still keep Douglas and I remaining hopeful for Isla's future. So for now, we are grasping each and every precious milestone she makes.  She is way exceeding any expectations we had originally had when this diagnosis was given to her nearly 14 months ago. And if you follow me through my Instagram and Facebook ventures, then you have seen these little moments we are so very proud of.

Stay tuned for updates on how Isla is doing with the new eye drops!

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