Ali had an appointment with the pediatrician today and things went really well. He was pretty negative the first time we saw him and he left me feeling pretty devastated so this was a welcome change.

Although he still feels that she has the chromosomal abnormality that we were told about on our last trip to the city (I’m still not willing to say what syndrome it is ), he said that developmentally she is way ahead of where he would have expected her to be at this point! We are so proud of our little bobean for proving what she’s made of!  I know she’s a fighter, I can see it!

The karyotype results for the syndrome are still not available and we don’t expect them to be for quite some time but Ali is doing amazingly well at this point and hopefully she proves everyone wrong about the syndrome as well!

She is still totally NG tube fed, we’re not making much progress on the bottle feeding unfortunately but we’re still practicing and hopefully she’ll learn to drink from the bottle soon.

Allison’s weight gain is very good right now, right on track for an infant of her age. He growth lengthwise is not great though but it’s not a major concern at this point , although that is a symptom of the suspected chromosomal abnormality.

Thanks for reading and sending all the positive thoughts!

We’re experimenting with a bunch of new bottles right now too and we may start thickening her formula to see if that helps at all.

It’s such a long process and the lack of progress in terms of bottle feeding is really frustrating a lot of the time but we are taking joy in the progress that Ali is making in other areas! She has smiled a few times now and has spent some time just hanging out on the floor kicking her feet and cooing.  She also continues to work really hard on her occupational therapy and is making little improvements all the time.

We are blessed to have such a brave little fighter for a daughter. We love her so much and to see her finally enjoying some of her life is enough to make us keep right on fighting with her.  I have a feeling it’s going to be a long fight.

trying to smile. I was pretty sure she was smiling a bit but not
positive until now.  This morning I said good morning to her and
she looked me right in the eyes and gave me a huge grin! If she had
teeth I would have seen them all! That is a huge milestone for an
infant and she did it!  It was the most beautiful smile I’ve ever seen and it was such a relief.  I wonder if this is how all the milestones will feel? It feels so, so, so amazing, probably because we weren’t sure it would happen?  Take that developmental
delay!
Allison is still working very hard to learn to drink from her bottle.  Such a roller coaster.

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?