A Big Day at the Clinic. Originally Posted May 27, 2011

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Last week Ali had an appointment with her pediatrician. She showed off by waving to him when he said good bye and shaking her head to say “no” when he tried to examine her! She’s funny and she knows it! The only major concern right now is with her heart. We’ve noticed an increase in sweating and some congestion so that’s definetely something to get checked out immediately.

Yesterday Ali had her very first clinic day with her psysiatrist at the rehabilitation hospital.

We travelled into the city on Wednesday night because our appointment at the hospital was so early on Thursday morning. Ali was very, very sick on Wednesday and taking her into the city was really horrible. She was coughing and gagging all the way and she was sweating so much that she looked like she’d swam into town. She has just gotten over pink eye so were are assuming that she just has a nasty cold but despite an intital “okay” result on an ECG, we are still very concerned about her heart. We are waiting for the more results to make sure that her heart is okay right now.

Once we got into Edmonton we headed straight to our hotel and put both girls to bed to prepare for an early morning the next day.

We got up bright and early and Ali was a mess. Jason took Madi down for breakfast while I stayed in the room and tried to get Ali ready for a really big day. She couldn’t keep any food down and was still super sweaty so I gave her lots of Advil and did what I do when she’s sick. I fed her water instead of formula.  Typically when nothing stays down, we need to rest her stomach. The water helped a bit and she seemed to perk up so off we went.

What a confusing place that hospital is.

We started our day at x-ray where Ali had lots of “pictures” taken. She was such a good girl and she was finally happy too, her water diet seemed to be helping a lot.

After x-ray we made our way to the clinic waiting room (that was no easy feat!!!)and waited our turn. Before long a nurse came to get us and we were given our room. I was told that Ali and I would just sit there and all the specialists would come to us. It was pretty dry in there, someone remind me to bring some coffee with me next time okay?

First we met with the Physical Therapist. Over all she thought that Ali was doing pretty well. She agreed that Ali seems to have a severe gross motor delay but she thought that Ali’s fine motor skills were pretty decent all things considered. She mentioned that a lot of the more “cognitive skills” fall into fine motor at this point. Based on previous evaluation, Ali falls below the first percentile for gross motors skills but she’s at the 12th percentile for fine motor which we feel is okay. The PT decided that Ali needs a standing frame so we talked about that too.

Next we saw our Social Worker. We chatted for a minute and then it was time to see the Physiatrist. He came in and brought a prescription for a standing frame for Ali and did an examination. He concluded that she looks pretty good. We decided that Ali would be fitted for “AFOs”
(Ankel Foot Orthotics) because of poor foot positioning and lots of ankle roll.  Ali showed her doctor how well she sits, he said that she sits well and that he estimates that she may walk around 30 months. That is much earlier then we expect her to walk but it’s something to aim for I guess! Once again he commented on her VERY low tone, he also said that she’s very strong and that her head size makes things tough for her because it makes her so top heavy. He had no major concerns. He was very taken with her and he told me how much he liked her!

After brief introductions to a couple of other people we met with the Orthopedic Surgeon. I think she was very surprised to find that Ali has no significant orthopedic issues. She said that we hit the Costello Jackpot in regards to orthopedics.

Next we went and got casted for AFOs. I think that was the most traumatic part of the day for Ali. Putting slimy casting material on the feet of a child with major sensory issues (and a cold to boot) must never turn out well. Ali put up quite a fight! We picked out sky blue AFOs with clouds and butterflies on them.

Then we got measured for her standing frame. Because Ali is so small, her standing frame will be custom made for her. It will also be made to accommodate her G-tube and she’ll be given a bigger base to accommodate her top heavy (but super cute) little body.

While we were at our appointments, Jason was picking up Ali’s new car seat. She finally out grew her bucket seat (in length, not weight) and we got her a car seat that is recommended for children with low tone. She loves it but she looks so tiny in it. We headed for home with Madi happily watching a movie and Ali sound asleep in her new car seat. It was such a busy day but it went really well.

This morning Ali woke up very sick once again, so today I’m concentrating on getting her back on her feeds and keeping her hydrated. We have a big week next week so she needs to feel better!!

Thanks for reading!

A Great Week. Originally Posted May 14, 2011

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Last Sunday the town’s most popular newspaper ran a story about Ali on the front page (this was Ali’s second “Newspaper Engagement”). There was a beautiful picture of her and the entire first page was devoted to  Ali. This story was about a penny drive called “Pennies for Ali” that has been started by the amazing people at RE/MAX.

The paper was available first thing Sunday morning and we just happened to be at the grocery store just after they opened and that is when the first person approached us to talk about Ali. Since then there have been many phone calls of support for Ali, many offers to help and many people coming up to us and wanting to talk to Ali and ask questions or offer best wishes. Ali loves it! She loves to meet new people and she greets every single person with a huge smile.

Ali is an amazing little girl and we love her for exactly who she is but having a child that is so obviously different can be a very lonely feeling for a parent. You love this child so much and it hurts when people stare or look away from that tiny little toddler that takes up so much of your heart! But this week things are different, people are not turning away from her but instead they’re saying, “Hi Ali!” and they’re stopping to talk to her and instead of wondering what the heck is wrong with her, people are actually asking questions and giving us the opportunity to explain exactly who she is and how great she’s doing.

So I want to thank our dear friends at RE/MAX , one week into “Pennies for Ali” they’ve already made a huge difference and we are very, very grateful.

Ali had a repeat hearing test a few weeks ago and it was determined that her hearing is not a huge concern right now. The test showed some minor problems with hearing but we will repeat in 6 months and decide at that time if we are going to do further testing.

Ali has been working hard on sitting independently and is now getting quite good at it. She can sit for longer periods of time and is now working on pulling her knees up underneath her while on her tummy so that perhaps one day she might crawl.

Ali’s favourite new skill is shaking her head for “no”. To be honest, I’m not sure if she knows what it means but she sure loves to do it! She is officially a toddler because she now says “no” to everything!

Thanks for reading!

 

It’s Already Been a Year. Originally Posted April 19, 2011

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Tomorrow is the anniversary of the day we got the results from Ali’s genetic test for Costello Syndrome. It’s been one year since the wondering and doubting stopped and reality sank in. Honestly, that day wasn’t really a big deal. We had already made our peace with it, it was pretty obvious to us what the result was going to be so when our Pediatrician called me and told me, I not only felt sadness for the little bit of hope that was lost but relief that I knew for absolute sure what was wrong with Ali.

When Ali’s doctor told me the results, he said that he was sorry that she had Costello Syndrome but that he was glad that it wasn’t something worse and although some days it’s easy to forget, we know that yes, it could have been so much worse.

I can’t believe it’s been a year already since we got the official genetic diagnosis!

Ali is doing really well. She can now sit unassisted for quite a while and she rolls all over the place to entertain herself! Tomorrow we have to go to Edmonton to do a hearing test because Ali failed the last one. It seems like there’s always something to look into. Ali also recently had an endoscopy procedure done to check for malignant tumors of the nose, throat and neck. She took it like a champ and the results were normal. We’re going to be doing endoscopy once a year to help to reduce the risk of advanced stage tumors in her ears, nose and throat.  This gives me a bit of piece of mind, just a bit, because the tumors terrify me.

Two weeks ago Ali had her press debut. Our local news paper did a full-page story on Ali and since then we’ve gotten a lot of supportive comments from those in the community that weren’t sure what was going on with Ali until they read the article. I really prefer when people ask questions or say hello rather than staring at my daughter. The staring hurts my heart.  I’ve had a lot of people tell me that I’m an inspiration, that makes me a little uncomfortable. The way I see it, I do what any mother would do. Ali is the inspiration! She’s amazing!

Thanks for reading!

 

It’s been too long. Originally Posted March 17, 2011

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Since I haven’t posted in a long time, I decided to post a quick update to let everyone know that Ali is doing really well.

Ali can now officially sit unassisted for a few minutes!!! We are so proud (and relieved) that she has achieved that milestone. She still prefers to lay down to play but we’re working on that!

Ali has also learned to stand up while holding onto a low coffee table for about a minute. She can’t pull up but once we position her at the table she is happy to stand until her little legs give out on her.

She is getting pretty mobile, she wiggles and rolls all over the place. Once she hits the hardwood, she really travels.  I have to watch that I don’t step on her because she no longer remains exactly where I put her.

We had a meeting with Ali’s feeding team last week and she is now 17lbs 12oz and is 69.9cm in length. She has officially dropped off the bottom of the growth curve for a child of her age but she is still growing and gaining weight at a decent rate.  We know that she’s going to be very small, they key is just to keep her growing.

We are planning to take Ali to Chicago in July to the International Symposium on Costello Syndrome. We are looking forward to meeting with medical professionals and other Costello families from all over the world. The symposium is being run by the Costello Syndrome Family Network. The CSFN is a charity that is near and dear to our hearts.   We are so thankful for this opportunity.

A blog about living life one day at a time with an amazing little girl with Costello Syndrome.