Today we met with a Medical Genetics physician at Mayo Clinic who confirmed Gracie's DNA tests came back positive for Sotos Syndrome. The DNA mutation is a new one that hasn't been seen, or at least, documented previously. Sotos syndrome patients have motor delays as well as learning deficiencies. Some need lifetime care and support, others catch up in mid-childhood and go on to lead productive lives and have families. Time will tell. You don't ever treat Sotos Syndrome, you just treat the symptoms that come up along the way. We have Gracie plugged into all of the special needs areas already -- early education, physical therapy, developmental and behavioral pediatrics, and of course neurology. We meet with our pediatrician in early January to figure out when to add speech therapy as well. We also had Gracie's weight checked, she is now 30-1/2 lbs. Her blood pressure was also a little higher than normal, but not too worrisome at this point. We were at the clinic from 9:30 a.m. until 1:30 p.m. Jeff, Gracie, and I were all tired.
Gracie's tummy continues to swell from the steroids and her voracious appetite. After our trip to the clinic, I made a trip to the store to buy her new clothes. Mostly smock type shirts so that she is comfortable. I felt like I was squishing the poor girl into her clothes. I'm told this will subside once the steroid injections are complete.
Gracie had a pretty good day. We're still seeing quite a few spasms, I just keep reminding myself that we are not at the appropriate dose of the new meds yet. We are slowly increasing them, so won't be at full dosage for two more weeks. We keep hoping they will be the answer to our prayers.
Gracie continued to say "mama" more today. This does my heart good!
Love to all,
Lisa, Jeff, and Gracie
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