22Q Results....

I am NOT a carrier of 22Q.
This means that Gabby's 22Q/DiGeorges is likely a De Novo result.

In asking the Genetecist what this result means and what this means for Gabby, they said the following:

"What we currently don't know is whether the deletion is something Gabby's father was born with which she inherited from him, or if the deletion is the result of a brand new genetic change (not found in all of the cells of either parent) that was present only in the egg or the sperm at the time of her conception. Either way, this is not the type of genetic change that could be caused by medication use and is something that Gabby was born with. It is either a brand new change in Gabby, or something she inherited from her father"

So, Gabby's genetic condition is likely the result of what is called "De Novo" which means it is something that just happens.

Gabriella-Marie

Born: June 25th 2009

My First Child (Who did not result in miscarriage or stillbirth) She has 22Q Deletion Syndrome (DiGeorges) She was born with an underdeveloped left ventricle that was fixed in utero. She also has a Heart murmur, Atrial Septal Defect and PFO (which resolved in 12/5/2018). She also has Aspergers Syndrome (High Functioning Autism, Level 1 Autism ect.), Sensory Processing Disorder, DMDD, ODD, ADHD-Combined and several other behavioral and physical health issues. She is my CHD and 22Q Warrior. She is my world, my life, my meaning for existence. She has my attitude, combined with her fathers stubbornness. She certainly shows us that she will accomplish anything and everything.