Showing posts with label FOXG1. Show all posts
Showing posts with label FOXG1. Show all posts

Thursday, January 20, 2011

A concert and a disaster

This is what can happen in the space of 10 minutes, when Mom has unwisely fallen asleep on the couch.

The plethora of straws is apparently so that lots of people can share the same cup.

Maddie's been on a recent laundry kick, so she helped me unload the baskets of clean clothes.


She even said, "Mom, you were sleeping so I was trying to be quiet." How thoughtful.

We got to go to a GREAT concert last night. Sarah Harmer has been a favourite of ours since we were first married. In our little first floor apartment, we discovered her song, "Basement Apartment." (Click on the link for the song)

Here we are, partially frozen after waiting outside to get in.

She is SO talented!


Here are couple of other songs that we love:

Lodestar (Ryan's favourite)
Captive (A new favourite)
Pendulums (One of my favourites)
Weakened State (A...favourite!)

Her new album came out last summer and there are some great songs on it. It's refreshing to see someone live who is incredibly talented and fun to watch!

We've been chugging along at life, working hard, trying to find time to play. Luckily Ryan's back is doing much better. He got a lecture from his chiropractor about how we all lead lives that are too sedentary and that our bodies are built to stand all day, in keeping with a hunter/gatherer tradition. In response, he has been trying to avoid sitting to help his disc repair itself. So now I can ask him how his hunting(slash)gathering is going.

We had an appointment for Claire this week with the neurologist who found that she was missing a gene (FOXG1). Along with news of more tests to rule out potential problems (EKG for heart monitoring, back x-rays for scoliosis, genetic counseling for possible future problems, a sleep study to monitor seizure activity during the night, etc.) we got the news that the discovery of Claire's missing gene has actually helped many other people come to the same diagnosis. Hopefully with the awareness generated by multiple occurrences, this can become a more researched gene. I'm not sure if we'll see any results of that, in regards to helping Claire somehow, but it's nice to know that people who come after us might have more options for treatment.

I'll be interested to see what happens with all the snow as we're supposed to have a week of "plus" weather. I'm not sure if it will be good or bad!

Tuesday, December 16, 2008

Good News

(click on underlined words for links for more information)

A few months ago we finally got a diagnosis for Claire. Dr. Bolduc at the Glenrose Rehabilitation Hospital did a gene karyotype and found a deletion on her 14th chromosome where she is missing the gene called FOXG1. They are calling it a variant of Rett Syndrome because it is so new that there isn't a real name for it yet. The only other reported cases are in a family from Italy. The children are still young so we really don't know how Claire will be affected in the long run and their case is also different. These children have the gene but it is mutated, while Claire is missing the gene. Apparently a mutation can often be more harmful than a deletion because the mutated gene can affect other genes.

Ryan and I had blood tests done to see if we contributed to this missing gene by translocation (basically, Ryan and I would have all the necessary components but when our DNA split when we gave half to Claire, it might have been missing the piece she needed). It's all very complicated and I wish I had studied more about genetics. However, if we had passed it on to her, the chances would be very high that any more children would have the same disabilities as Claire. (I don't want it to sound like we wouldn't want another child like Claire - she's been a huge blessing in our life but quite honestly it would put a very serious strain on our physical, emotional and financial well-being).

Well, today we got the good news that whatever happened with Claire was a rare occurrence and there is no increased risk for the same disabilities in any new children. It's kind of nice to have some answers about what happened.

Tuesday, September 23, 2008

Roaches, FOXG1, celebrity look-a-likes, a mugging and backwards clothing

As usual, we've had a lot going on these past few weeks. Here are some highlights:

(just a reminder - click on the pictures to enlarge them)

Madeline has been decreed as a Suri Cruise look-a-like. We've had at least 5 random people stop us at the park and on walks to tell us that she looks like a famous baby. I think Suri is about a year older than Maddie but they do look kind of similar. Maybe we should take advantage of this and turn her into a celebrity baby impersonator. Judge for yourself. (Too bad I don't look like Katie Holmes!)
Madeline "Suri" Layton

Suri Cruise (Tom Cruise and Katie Holmes' daughter)


Claire's new hairstyle really suits her! It took a tag team of stylists (Grandma and Auntie Natalie) to sort through the dreadlocks but Claire looks so much cuter and it's so much easier to manage.


Here's our first attempt at a double bath. Madeline got kicked a few good times by Claire and Claire got buckets of water dumped on her - but I think they both had fun!

Madeline enjoying Claire's collection of stuffed animals....and her soother. I know I should be getting rid of it soon, but I don't have the emotional fortitude to put us all through that stress right now!

Ah....chocolate pudding snacks.

Daddy and Claire playing on the floor. Claire is really holding herself up well on the floor and is even lifting her bum up every once and awhile. First steps to crawling!


Our biggest disaster of the month was that our building got cockroaches! You heard me right. The tenants directly above us two floors up brought a sample of the bugs down so we could call the fumigator and they were cockroaches. So since we're below them and they waited for so long to tell us about it, we saw a couple in our suite and so it had to get sprayed. Luckily my family helped us out by having the girls at their place for nearly a week while we dealt with moving all our furniture and taking everything out of our closets and then having to clean and replace everything. It was SO stressful but they didn't find any more bugs in our suite besides the two we originally saw, so they don't have to spray here a second time. Phew. Here are some pictures of our packed up house.



Ryan built a retaining wall flower bed for my parents with the help of Melanie's muscles, Robbie's tamping abilities and my and the girls' supervisory techniques. It looks awesome!


Cheese supreme.

Claire really enjoyed her time at Grandma and Grandpa's - I don't think she wanted to come back home!

Madeline has recently discovered that she loves playing the piano. I'm just waiting for the day when I leave her for a minute and then come back to find her standing on top of the piano.
In other news...

In a hurry and late for a big Relief Society activity, I wore my shirt backwards for the entire night without noticing. It wasn't horrible - it was just the black shirt I wore under my patterned shirt for layering purposes but boy I felt stupid when I got home and realized. Curse you tagless t-shirts! It made me realize that I should actually look in the mirror before leaving the house. Lesson learned.

Ryan ran to Mac's late at night to buy some pop and almost got robbed by three guys. When they asked for change to distract him, they tried to knock his wallet out of his hands but then gave up when it didn't work. One more reason why we should maybe take some kung-fu lessons if we are going to live here for much longer.

We finally got Claire's mini Lite Box in the mail. We ordered it a long time ago but it took awhile to work out the ordering red tape. A Lite Box is a visual enhancement tool that's basically a tracing table with a bright light. The accessories are the most important part - there are coloured shapes, spin patterns, coloured backgrounds, etc. She responds so well to it that I think it will be a great teaching tool for her.

Another very important piece of information was that we have a diagnosis for Claire. Dr. Bolduc at the Glenrose and U of A hospitals came here to specialize in diagnosing kids who had no diagnosis and Claire was on his list. They did a gene karyotype and found a deletion on her 14th chromosome. Within that deletion is a missing gene named FOXG1. We are in the process of doing tests on Ryan and I to see if we are carriers of the missing gene or if it happened after conception. It's kind of a scary time but it's good to have some answers finally. The only information he could find on this diagnosis were very recent and very limited. That means we don't have a lot of information on what might come later on but it isn't a regressive disease - it won't get worse over time. It's just something she will always have to deal with. It's a little scary reading the papers he gave us because the outlook seems quite bleak based on the two Italian kids they are writing about. Their situation is different because the two kids have the gene but it is mutated. I guess that can be worse than it being missing because the mutated genes can then affect surrounding genes. I really need to go take a genetic research class so I can understand this all better. Claire is teaching us a lot!

We're also really enjoying Claire's programming everyday. Claire's already worn out one developmental specialist (she has knee problems and has been having troubles lifting Claire) so we're doing a switcheroo and getting a new lady. It's frustrating to have to go through all the introductions and instructions again with a second person, but I think it will be best for Claire.

What a blabbermouth I am. I had better stop for now.