Gabby was born June 27, 2008. She seemed like a typical infant to everyone but me. I had a strong feeling there was something not “wrong” with her but different. We didn’t realize her screaming for hours at a time and not keeping her milk in was because she was allergic to milk and soy. We went through several formulas until it was confirmed by allergy testing. That was just the beginning of her medical obstacles. She developed normally up until 6 months old. Then everything started being very delayed.

She had her first tonic-clonic seizure soon after her second birthday. She had been having absence seizures before that but they weren’t recognized as such until her first EEG in Nov 2010. She had lots of spikes and an absence seizure while doing the EEG.  Her neurologist ordered some labs which I was not prepared for the answers at our two week follow-up. We go in and he sits down and explains she has epilepsy then says she also has an extra part of chromosome 22. He continues by saying it’s really rare and there is very little information. She has 22q 11.2 duplication. It is similar to the deletion also known as DiGeorge Syndrome. With this diagnosis has come many, many more.

She has had a gtube for over a year and a half now because she in the summer of 2011 she all of a sudden stopped walking, talking, eating and drinking. She was continuously being hospitalized for dehydration. Finally we got the gtube and nissen which has literally saved her life. It was meant to use along with her still eating by mouth. She continued to eat and drink only tiny amounts so the tube was great. It was great because not only could she be nourished but could also take all of her meds. She was on a few different ones and refused to take them by mouth. She had trialed a few different ones to control  her seizures. Some worked for a short time and others not at all. That’s when I realized her epilepsy (myoclonic-astatic or doose syndrome) was not going to be so easy to control. We sought a second and even third opinion. We finally have a combination of meds that are controlling them pretty well. She still has seizures but nowhere near as many as before.

She still continues to fight many more battles.  In Sept 2012 she went into respiratory failure and septic shock. The doctors said no way would she make it and I needed to go ahead and make all the final decisions on what I did and did not want done to save her. And they were willing to do as little or as much as i wanted but would make sure she was comfortable as possible. She was placed on a ventilator and slipped into a coma. She continued to fight her way through and after a few days the doctors removed the ventilator but she still wasn’t strong enough and if had to be replaced. It was in for a total of two weeks and the next step was a trach. When they removed the vent she able to sustain herself. They all said it was a true miracle.

She did not get the trach placed after all. But the doctors believe that it will happen again and the outcome may not be as good. Gabby continues to amaze me every day. She is the strongest person I know and is my hero. She has fought through so much and smiles along the way. She doesn’t let things get her down. She has such a strong bond with her big sissy Elizabeth that most will never know. They have so much love for one another. I look at them and I see hope, true love and so much more. Gabby has the biggest smile and big brown eyes that will make anyone’s day better and brighter. She has the sweetest laugh of any I have ever heard! I am honored to be able to call myself her  (and Elizabeth’s) mom!!

Thank you for allowing me to share Gabby with everyone.