Bergen Taylor Hightower

Monday, December 23, 2013

Isla Rose: Update On Her Recent Diagnosis

Every time I sit down to write an update on our sweet Isla Rose, my heart just bursts with so much emotion. Why?  Because when I look at my beautiful baby girl, things seem to be so perfect, SHE seems so perfect when in reality, she cannot see like you or I can.  Truth is, we are not sure what she can or cannot see right now. We feel and think by her every day actions that she can see LIGHT and COLOR and that is enough to fill our hearts with gratitude.  Every day, she is changing and learning with those precious little hands of hers and we are adapting to what her lifestyle will be and as she grows we will face new obstacles, some not so easy, but we will give it our all, keep our faith, believe and continue this journey in finding a cure for her.
It has been 9 LONG weeks of waiting for answers from her blood drawn for genetics testing.  These samples of blood were taken back when we had her ERG done at Duke Medical. To make a long story short, all of our genes come in pairs. We get one copy from our Mother and one copy from our Father.  In LCA, both copies of the gene that is involved have a disruption that makes each of these gene copies "not work".  This means that in individuals with LCA, they have no working copies of the involved genes. 
The testing that Isla Rose had done looked at 19 genes that cause LCA, including a gene called CRB1.  Mutations in both copies of any of these 19 genes cause LCA and Isla's testing was only able to find a difference in one copy and that was the CRB1 gene.  At this time, they do not know if this difference is truly an error (mutation) AND she has an error in her other copy of the CRB1 gene that they just cannot find with their current testing or if she truly only has this difference in one copy of the CRB1 gene and her other copy of the gene is normal, meaning that this result may be a red herring and not the explanation for her symptoms.
In testing right now, they are able to find mutations in about 60% of individuals who have LCA and this is based on testing like Isla Rose had (ERG) as well as symptoms that she shows in her every day life (like her eye rubbing, nystagmus and behaviours that prove this).  This means that the other 40%, their LCA is caused by a diagnosis that has not been tested or found yet....a new type of gene.
With all that said, Isla Rose is still "labeled"  under the following:
1)  She has LCA caused by two mutations in the CRB1 gene but can only find one of these mutations with their current testing abilities.
2)  She has LCA caused by a gene that they don't know about yet.
3)  She has another condition along with LCA that is causing vision error (mutation).
Because of the results and unanswered questions we have, Douglas and I wanted to pursue any and all testing that they can offer so last week we got clearance to take Isla Rose to Levine's Childrens Hospital to have more tubes of blood drawn so that we could have it overnighted to Casey Eye Institute in Portland, OR for more testing.  Testing that will look for other retinal (eye) dystrophy's along with her LCA.  As we wait another 6 - 8 weeks for possible answers, we pray that we find more asnwers and in every prayer....a cure. So that one day, our Isla Rose can see.
Don't be afraid,
for I am with you.
Don't be discouraged,
I will strengthen you
and help you
I will hold you up
with my victorious right hand.
Isaiah 41:10


  1. I love this verse from Isaiah. I've recited it many times to remind myself that He is in control! All things are possible with God and everything is under his feet. You and your husband are so brave. Praying that God would touch sweet Isla Rose :)

  2. My heart goes out to you and your sweet family. We have gone through similar tests to find out a diagnosis for Finn. Some days it's just so hard but what wonderful gifts from God we have been blessed with. Isla Rose is such a sweetheart and my prayers are with your family! If you'd ever like to chat my email is