Thursday, June 21, 2007

Genetic Test Results from UCLA

I received a call from UCLA today and they had the results of the genetic testing for the Atypical Rhett Syndrome gene for Jenelle. Remember, this is from our blood draw on January 3? The test results were negative, meaning that Jenelle does not have the atypical form of Rhett Syndrome. We have already ruled out the typical form of Rhett Syndrome, so safely we can rule out Rhett Syndrome completely.

While once again we are left without a real "diagnosis" for Jenelle's issues, we have also ruled out another possibility. We will meet again with UCLA Genetics when we return to see Dr. Shields in August and we'll go from there. At this point, Jenelle has literally been tested for almost everything possible known to the best experts in genetic disorders. We are simply going to have to wait for science to catch up with Jenelle and for a new genetic condition to possibly test for, or for progress from stem cell research and gene therapy. UCLA says they may just keep in touch with us annually, or if a new symptom occurs, or if Jenelle begins to regress. As I've said before, the up side of Jenelle being "undiagnosed" is that her potential remains unlimited. So this is good news.

In other good news - Today marks 2 years since Jenelle's last hospitalization! If you had told me two and a half years ago that we were close to our last hospital stay for a while (knock on wood) I wouldn't have believed you. As Jenelle continues to improve, we can only sit back and enjoy how far she has come!

Last night, our city had its opening night for "Concerts in the Park". These are free, fun events where everyone takes a picnic, some wine, and the kids run free. A year ago, Jenelle could barely sit up at these events.

Last night... she was dancing!





Thanks for the continued thoughts and prayers. I'll keep you posted.

3 comments:

Danielle said...

Happy 2 Years!! ;) She deserves to dance! I am silently dancing over here ;) Kiss her for me!

Special Needs Mama Prof said...

Oh the highs and lows. Thank you for the picture. I love to see her on her feet!

Ben & Bennie said...

Hooray for Jenelle! And even had you known the disorder she has a life ahead of great quality and potential!