Today we received Elise’s genetic testing report. A large panel was done looking for two things: first, detect genetic variations to determine to diagnose Rett Syndrome; second, to look for other anomalies or variants in different genes.
It was determined that there are no genetic causes or genetic faults detecting Rett Syndrome. Though Elise exhibits Rett-like syndromes so clearly there is no genetic sign of RTT. There is an outside chance she can still be diagnosed with RTT based on her physical and clinical presentation of Rett-like symptoms.
The large scale test found a change in Elise’s SYNE1 gene. This variant in the gene was not matched in the genetic database.
What does that mean?
Imagine a fingerprint database. While looking for a match to a fingerprint the database is searched to find that match. Essentially, this variant in the SYNE1 gene has not been detected; so there is no matching genetic fault in the genetic database. Therefore, there is no way to interpret what it means.
The technology to look at genes and find problems has outpaced doctors ability to name, diagnose, understand, and to help. Simply put, we don’t know what our little girl has and for the time being there doesn’t seem to be many answers out there as she is now the first one in the genetic database with this type of genetic anomaly.
After the results, Ez and I had a genetic test to determine if one of us are carriers to help piece the puzzle together. We will likely travel to meet with genetic specialists and we will keep praying and hope that you will to.
Synopsis: Elise has a genetic issue with the SYNE1 gene. Because it is rare and has not been detected previously doctors can’t diagnose or give any type of prognosis. For now, it appears Elise does not have Rett Syndrome. So that is what we know for now. Perhaps more will come in the coming months or years.
We love our little girl! Good thing she is so cute :)
I LOVE being a mom to my 5 kids; one with special needs. There is no greater joy than being a parent! I love each one individually but this blog will mostly focus on our daughter with special needs and our journey with her. Thanks for reading!