On Thursday morning we had our cardiology appointments. Ali started her day with an echocardiogram and an ECG. The echo revealed 5 developmental abnormalities of her heart. All are minor and just something to be watched. They are however markers for Chromosomal abnormalities. She also wore a Holter Monitor for 24 hours to see if the SVT is still there but we won’t have the results for a while.

On Thursday afternoon we met with the Geneticist. This is where the news gets pretty bad. The doctor is now leaning away from Noonan as a diagnosis in favour of a related chromosomal abnormality that is much, much worse. I’m not going to go into detail because the screening is not complete and to be honest I don’t feel like sharing this information about Ali right now but it’s so, so scary. We took Ali to have some blood drawn and it was sent to another hospital so that they could do a karyotype (look at her chromosomes)and give us a better idea if she has this specific condition but the results will take months. In the meantime she will be followed as if she does have it because it would require really close monitoring in some areas.

Today we met with our pediatrician for the first time. He seems like a very proactive doctor. He’s quite concerned about Ali and he tried to prepare us for what may be coming which I appreciate but I kind of wish he had sugar coated things.

I feel crushed.  I’m so devastated and blindsided.  I feel like we’ve lost everything and are now left with a totally new reality.  How did this happen?  How could things suddenly go so, so wrong? What did we do to deserve this?  What did Ali do to deserve this?

Ali is not a “typical” child and from the sounds of things there is a pretty good chance that she may never be. We need to be prepared for her to face some pretty major challenges through out her life. Oh my god.  Where do we go from here?