After being sick for what seemed like forever (I think it was 8 weeks), including an infected G-tube, the flu, a cold and two bouts of really scary croup; Ali finaly got better and right now I would say that she’s the best she’s ever been!

Now, we are able to push Ali’s tube feeds WAY faster then ever before. We have her taking her milk in an hour as opposed to two hours before she got sick. That’s a huge step because to be able to feed orally for nutritional purposes she has to be able to tolerate her food way more quickly.

She is extremely interested in feeding orally. She even goes as far as to open her mouth when we are eating as if to say, “Hey, where’s my food?”.  She loves, loves, loves Cinammon and chocolate. I feed her baby rice cereal with tonnes of cinammon and/or chocolate grated on it and she smiles and giggles as she has her tastes. Is she swallowing? I don’t know. I think that she swallows a bit of the food but most of it still comes out and drips down her chin or she uses it to blow bubbles. Whether or not she actually swallowing a lot of food isn’t that important right now.  We have so much that we have to work on before she can feed orally as a source of nutrition but the fact that she clearly loves to have tastes and wants to eat is awesome!!!!

Ali had a pediatrician appointment today. The bad news is that she has lost more then a pound since her last appointment because she was really, really sick! The good news is that her doctor is very, very impressed with her cognitive development. He said that we should always aim high for Ali because he thinks that she is going to do very well with this syndrome!

Physically things are okay but she’s still not sitting independently or even close to being mobile. She has a huge desire to move around the room when she’s playing and she does roll to get toys or to look at things but she’s reluctant to “barrel roll” (probably because she hates being on her tummy). I hope that her desire to go places will win eventually and soon she’ll be rolling all over the place. Today she moved herself about two feet by wiggling and squirming on her back so that’s another option for motion I guess!!!

So anyways, right now Ali is doing very well. She’s a happy, happy little girl and she’s learning new things all the time!

When Ali was less than a week old, she was given a drug overdose in hospital but even after the drugs cleared her system she struggled. When we finally took her home it was scary. She wasn’t growing.  She couldn’t even tolerate enough formula to grow. Feeding her was horrible, she would gag and throw up and scream. We now had some idea that maybe the drug overdose, although horrible, wasn’t the cause of her feeding intolerance and delays, maybe something else was going on.

Very few people know this but I had always wondered about Ali. Something in my heart had always wondered if this was a child with extra challenges. The night she was born I just had a feeling that something wasn’t right.  But that was a feeling that I just put out of my head and ignored. The drug overdose made it easier to ignore that feeling for longer but some things you can’t avoid forever and this was one of them.

In February we met with a Clinical Genetisist and she was very worried for Ali. Two simple words changed our lives forever; Costello Syndrome. That day still haunts me because I had feelings that I didn’t know I was capable of.  I felt like my child was gone, lost forever and that she’d been replaced by this new baby that I didn’t know at all. That day is never far from my mind, I can honestly say that that was the most horrible day of my life.  It’s a day that I wish with all my heart I could forget but thankfully, I can also say that from that point we learned to deal with our new reality.  While I’d do anything I could to change this reality for Ali, she is my baby, she is the same baby she’s always been and I wouldn’t trade her for anything.

Over the past year Ali has exceed our expectations in every way. She is incredibly stubborn and determined. When she wants to learn a new skill she fights with everything she’s got, when she doesn’t want to learn a new skill she also fights with everything she’s got! 
This little person is truly amazing. She has the silliest smile I’ve ever seen , she snores like a full grown man and she makes hilarious little sounds when she’s trying to express herself.  Ali would spend hours laying on the floor with both feet in the air staring at her toes if we’d let her and if you start to sing. “Patti cake, Patti cake, bakers man…” it’s her feet that start clapping, not her hands. Ali loves to be nuzzled.  She giggles when we kiss her neck and smiles and sticks her tongue out when we turn on Country music.   She also plays a mean xylophone piano!  Ali has just learned to clap her hands and to use the sign for “more”, she can’t help but clap and sign “more” like a crazy baby whenever she gets excited!

The reason I’m telling you all of this is because Ali has taught me a much needed lesson over the past year. A syndrome is just a syndrome, it doesn’t define a person. Ali lives with Costello Syndrome and because of it she has many obstacles to overcome but she’s not limited in what she can do.  The sky’s the limit for our little peanut.  Sure, Ali will probably always be different but what I’m confident in is that she will be the best person she can be.  While some people who look at her may see a baby that is severely delayed, all I see is my child and how beautiful she is.

I’m not going to say that it’s been an easy year because it hasn’t. Ali spent 6 weeks in the hospital when she was born.  Since then she’s been hospitalized twice for surgery and she’s had four trips to the emergency room.  She sees six specialists regularly and has occupational therapy every week.  She has tumour screening every three months. I still feel sad every day for what she’s lost and for what may come in the future. I’m no longer waiting for that sadness to go away because I am fairly confident now that it never will.  But Ali has also gone from being a virtually blind, hypotonic infant to learning to hold her head up, roll over, hold her legs up in the air and reach, grasp and shake. She can track well with her eyes and she loves to watch what is going on in the world around her. She sits up and stands with support and is tolerating her feeds well and growing fabulously. She is also the most stubborn little thing that I have ever had the pleasure of knowing and I love her for it. She has come so far in a year and I am excited to see where she ends up in the next year and in many years to come.

At night when Ali and I sit together and snuggle in the rocking chair I often have to fight back tears. When it’s just her and I in the middle of the night, it’s hard not to think about everything that she’s been through and what may happen in the future.  But as she sucks on my fingers and coos softly I can clearly see the most important thing of all.  Ali is a gift. I love her with all my heart and we are so blessed to have her. There are no words the describe the bond I have with this child and if I could go back to last year when Ali left into the cold, snowy night I’d tell myself that although our life was going to be forever changed we would all be okay. I am a better person today then I was last year. There are always going to be hard times and battles to fight but we have Ali and that’s the way our world was meant to be. I truly wish I’d known then what I know now and I want everyone to know that no matter what, I will always be thankful for that special little Christmas gift that came into our lives on that cold snowy night one year ago tomorrow.

Happy Birthday Baby Ali, you’re perfect and we love you so much.

First of all, Ali has Strep infection at her G-tube site. She’s on antibiotics currently (which don’t seem to be doing much) and we are treating the granultion tissue around the area every three days with silver nitrate. We had her looked at yesterday and I guess the granulation tissue is really excessive so we have to get rid of it.  We are doing everything right but we are loosing the battle  which is VERY FRUSTRATING! Hopefully once we get the strep under control the granulation will follow.   Strep infections at G-tube sites are fairly rare and very difficult to treat so we may have to do a second course of antibiotics.

We got some very dissappointing and scary news yesterday at our cardiology appointment. Ali has developed Hypertrophic Cardiomyopathy.  Hypertrophic cardiomyopathy (HCM) is a disease in which the heart muscle becomes abnormally thick. This can make it harder for the heart to pump blood and can lead to sudden death.  Obviously this is really worrisome and to be honest I am trying to forget about it for now.  The best case senario would be that she goes on beta blockers (medication)and that the hypertrophy is kept under control for many years.  The worst case senario would be that she eventually needs a heart transplant which she won’t get due to tumor risk.  Over 70% of people with Costello Syndrome have this condition and it varies from mild to severe. Hypertrophy and tumor risk are the main reasons why people with Costello Syndrome don’t live long lives.  We knew that this would probably happen but it’s still a big slap in the face. So now I’m going to forget about it (sometimes I bury my head in the sand for self preservation) and worry about the Strep infection because that’s something that I can fix (I think).