We made the trip up to UCLA yesterday to have Jenelle seen by the Genetics Department. Our first consultation was great, and much better than I anticipated. We spent over an hour just giving information about our medical and family history. Jenelle was quite the charmer as usual, and they all agreed she was very cute. (I’m biased of course!)
They took some blood and will be testing her thyroid levels and for a genetic disorder called Rhett’s Syndrome. From my own research on the Internet, I found that Rhett’s Syndrome is caused by a genetic mutation error that typically affects only girls who begin to develop normally but then suddenly regress to the point of losing skills such as walking, talking and eating. Some of the typical characteristics of a girl with Rhett’s are one with attractive features, uncontrolled seizures, and they do not use their hands. Jenelle does not fit the profile of the “typical” girl with Rhett’s Syndrome, but they are finding as they test more kids like Jenelle that there is a type of “atypical” form of Rhett’s that would fit Jenelle’s characteristics. It is something we have suspected for a while, but never actually tested. We will have those results in 4 weeks. We go back on Thursday to see Dr. Shields for a routine follow up and should have the thyroid results at that time. If the test for Rhett's is negative, we may consider getting a muscle biopsy to rule out mitochondrial disease.
I’ll update again once we have some test results. Thanks for the continued prayers and positive thoughts!