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. Happy Spring!