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?

We arrived home on Saturday evening after a long journey. Our ride home ended up being longer then expected because Ali seems to have a very low tolerance for her carseat and we had to stop every 20 minutes or so because Ali was having trouble breathing. About 10 minutes from home she decided to pull out her feeding tube too which made Mommy very happy!

We arrived home, I put the feeding tube back in, Jason picked up Madi and we all went to bed. Since then we’ve done nothing but run around the house like crazy people.  It is absolutely nuts.

Ali has had some difficulty adjusting to the formula that we were sent home with. It’s a powdered version of the hospital formula but she found the liquid hospital version easier to tolerate. The liquid version isn’t available for use at home so we’re working with the concentration and volume to try to find something that works for her. As a result of the formula issue, Ali has lost some weight and she throws up all the time.

We’ve started working with the genetics nurse to gather information about our family histories. Ali will be having a full genetic work up. Specifically they are looking for “Noonan Disease” but they’ll also be ruling out any other conditions.

We have started the process of teaching Ali to feed from a bottle. I don’t have any great successes to report but I can say that Ali is eager to try to drink and she seems to really enjoy the feeling of the bottle in her mouth, she just has no idea how to swallow her milk!

Ali has her first group of appointments scheduled in the city. We will be going on February 18th and 19th to meet with the feeding team (nutrition, feeding therapist, nurse), her new pediatrician, her geneticist and her cardiologist. She will also be having an echocardiogram, and ECG and a Holter Monitor test.

Thanks to everyone for all your support. Reading your kind and encouraging messages has meant so much to Jason and I. We will update again when we have time.