Spring Updates

We have been very busy since our last post for Rare Disease Day in February.


We received the great news on March 18th that Katherine Belle’s skin biopsies show no signs of INAD.  The one abnormality appears unimportant as other similar cells were normal.  Although many metabolic diseases show no abnormalities in these tissues, all “normal” findings are big for us, particularly when negative for the dreaded INAD.  All test results for 2014 have been positive and none have indicated that she has INAD.  She continues to enjoy her weekly physical therapy and occupational therapy sessions.  She now has a new walker with a pelvic stabilizer and we are in the process of ordering ankle braces for additional support.



She is scheduled to have a hearing test the second week of April in Lexington, and a spinal tap, a follow-up MRI, and see a genetic ophthalmologist in mid-June at the Cleveland Clinic.

In the meantime, our family is preparing to put our house on the market so we can move into a handicap accessible home.  We are very thankful for friends and family who’ve watched Katherine Belle while we clean, organize and tackle all things required for selling a home.  Now, we just need to keep it clean with an active toddler …





She has enjoyed the home selling process, especially helping me “stage” our house and pick flowers from our yard.





Katherine Belle is as happy as ever and has turned into such a big girl.  She sings her ABCs, can count to ten, loves Dora, Blue’s Clues and mermaids.  She continues to adore her bunnies and loves seeing all the Easter decor when we go to the store.




After a long winter, we are ready for spring, sunshine, and spending more time outside sans snow.


She is eager to use her new walker and see how fast she can make it move…


Oh, and she just got her first passport picture, which she took very seriously.  I think she looks like a future Secretary of State?  

Although she mostly laughs and smiles, she occasionally acts like a normal two-year old (she’s just so darn cute when she pouts!).


Finally, she’s enjoying another great basketball season.  This is her second Final Four and she’s really excited about the Kentucky Wildcats bringing home another banner.


Good luck to the Kentucky Wildcats in the NCAA Final Four Tournament!



6 thoughts on “Spring Updates”

    1. Yes, Katie! Isn’t that a hoot! I asked her to lift her chin and stare straight ahead, so she took it all very seriously. I told her she could smile and the lady taking the picture told her she didn’t need to smile. She opted for the serious face. 🙂

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