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Day of Joy

November 4th, 2022 at 07:26 pm

Today is a day of Joy and I have been blessed.  About a year ago my DH underwent genetic testing and was confirmed to have a specific mutation that he inherited from his mom, which lead to his retinitis pigmentosa.  This mutution is inherited in an autosomal dominant manner meaning that any child we had would have a 50% chance of inheriting it and having RP.  

When we had children 13+ years ago we had no idea what the mutation was and there was no way of knowing.  Testing was not advanced enough to genetically screen and find the mutation.  Fast forward to now and due to advances they knew where to look and last Christmas his diagnosis was confirmed.  He had been told since around age 12 when the dr was able to observe the RP phenotype.  

The fact we were told 13 years ago we would know around now, meant we've been waiting on pins and needles.  We've been waiting to see if any dr would be able to look into our kids eyes and tell us if they had it.  I know my DH has been worried, especially as he has aged and things have become more difficult for him.  The greatest fear and worry for a parent is the healthy and well being of your children.  

So a few months ago we were approved that insurance would test our kids for the mutuation.  We actually had been ready to pay out of pocket but the eye dr suggested we try insurance and she turned in the paperwork.  

It turns out both our kids are negative for the mutation.  They each had independently a 50/50 chance of having the mutation and being positive for RP.  So for DH to have two children not inheriting the mutation is amazing.  I had tears of joy when the dr called me.  

What a wonderful day.

6 Responses to “Day of Joy”

  1. Wink Says:
    1667594572

    WOW that is fantastic news!! I am so glad for your family. This is most certainly a day of joy!!

  2. Petunia 100 Says:
    1667601866

    That is joyful news, all right. Congratulations. Smile

  3. rob62521 Says:
    1667658364

    That is amazing news! So glad the insurance would pay and that you received good news on top of it!

  4. Laura Says:
    1667673191


    This is wonderful news! So happy with the outcome for you and your family!

  5. CB in the City Says:
    1667682001

    That is so wonderful!

  6. Fern Says:
    1668528659

    That's wonderful news!

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