The Jeep is officially "in the shop". I joked with our mechanic that the Jeep must like their heated shop more than it likes our garage because it keeps spending time there instead of here.
We have three options for fixing our 2nd gear dilemma. Actually, we have about 5 but scrapping it or trading it in aren't viable options!
We can get a brand new transmission ($3,000 for the part alone), we can get the existing transmission rebuilt (somewhere between $1,500 - 3,000 depending on the internal damage done by the messed up synchros) or we can get a used transmission ($1500 for the part). The used one has 60,000 km on it which, to our guy, is a great deal. Until I pointed out that both transmissions we've already blown through have had synchro issues at 45-60k. Means the used one is just about due!
We've opted for a rebuild hoping that the damage will be minimal and therefore the cost will be a bit lower.
Thankfully the in-laws left a car behind while on their travels (psst... G and G... we have your car....). While I'm not sure I'm a Malibu kinda girl, Lauren looked really cute lounging in her car seat with her white framed sunglasses on.
She looked like a content little Malibu Barbie.
Friday, February 10, 2012
Wednesday, February 8, 2012
Growth Hormone + Noonan Syndrome RAF1... the jury is still out
It's been an interesting week of learning for me - which I love!
A woman - now a friend - got in touch last week about growth hormone therapy (GHT) for her daughter. Seems the endocrinologists at the hospital they work with don't support the use of growth hormone therapy for Noonan Syndrome (NS). The doctors won't entertain the option period.
Meanwhile our endo and that of a family in another major Ontario city do support it and are actively pursuing it on behalf of our children.
This led to me connecting with a geneticist who's an expert in Noonan Syndrome and from there, connecting with two cardiologists, one of which is also a molecular geneticist, who were able - and willing - to share information AND an opinion on whether GHT is a viable option for Lauren.
Turns out, the "for" vs "against" are still 1:1.
One cardiologist is "for" GHT (in general, not specifically for Lauren) while the other is not. That's okay. Better to have opposing opinions than none at all!
The molecular geneticist, when given the exact location of Lauren's gene mutation, was able to tell me more about her exact mutation. Not just that it's RAF1 but that within RAF1, Lauren's mutation is at even higher risk for HCM (hypertrophic cardiomyopathy). Bruce explained that within the RAF1 gene, there are three hotspots or areas within the gene where mutations result in NS. Two of those three hotspots are known for HCM while the third, more rare, is not. Lauren's is one of the two. This means Lauren's chance of developing HCM is actually higher than the general RAF1-HCM phenotype ratio as those ratios are based on all three RAF1 zones.
This means she's at a higher risk than we originally thought.
However, there's no data about when HCM starts if it isn't present at birth so we don't know for certain that Lauren is outgrowing her risk but it seems fair to expect that if she hasn't developed clear signs by the time she's 7 or 8, we may be more clear to start GHT.
7-8 years of age is the traditional age to start HCM. In Ontario though, it seems some endocrinologists are starting much earlier to see greater gains.
The other important piece of information answers the question: Does GHT elicit HCM? and the evidence says no. In our particular case though, we can't determine whether RAF1 patients have participated in the studies because most studies have been done prior to the identification of the NS genes. That, combined with the high percentage of HCM cases in RAF1 means the population of RAF1 patients within the studies is likely very slim.
So not that much help in the end except the implication that if Lauren isn't showing clear signs of HCM, starting GHT is not going to cause it. If she develops HCM, she was going to develop it anyways and might have gained a few inches in the meantime.
But then the argument continues that height is a societal issue not a health issue and ultimately, is it worth the risk to her heart, given the absence of data?
So the jury remains in deliberations for another couple years.
A woman - now a friend - got in touch last week about growth hormone therapy (GHT) for her daughter. Seems the endocrinologists at the hospital they work with don't support the use of growth hormone therapy for Noonan Syndrome (NS). The doctors won't entertain the option period.
Meanwhile our endo and that of a family in another major Ontario city do support it and are actively pursuing it on behalf of our children.
This led to me connecting with a geneticist who's an expert in Noonan Syndrome and from there, connecting with two cardiologists, one of which is also a molecular geneticist, who were able - and willing - to share information AND an opinion on whether GHT is a viable option for Lauren.
Turns out, the "for" vs "against" are still 1:1.
One cardiologist is "for" GHT (in general, not specifically for Lauren) while the other is not. That's okay. Better to have opposing opinions than none at all!
The molecular geneticist, when given the exact location of Lauren's gene mutation, was able to tell me more about her exact mutation. Not just that it's RAF1 but that within RAF1, Lauren's mutation is at even higher risk for HCM (hypertrophic cardiomyopathy). Bruce explained that within the RAF1 gene, there are three hotspots or areas within the gene where mutations result in NS. Two of those three hotspots are known for HCM while the third, more rare, is not. Lauren's is one of the two. This means Lauren's chance of developing HCM is actually higher than the general RAF1-HCM phenotype ratio as those ratios are based on all three RAF1 zones.
This means she's at a higher risk than we originally thought.
However, there's no data about when HCM starts if it isn't present at birth so we don't know for certain that Lauren is outgrowing her risk but it seems fair to expect that if she hasn't developed clear signs by the time she's 7 or 8, we may be more clear to start GHT.
7-8 years of age is the traditional age to start HCM. In Ontario though, it seems some endocrinologists are starting much earlier to see greater gains.
The other important piece of information answers the question: Does GHT elicit HCM? and the evidence says no. In our particular case though, we can't determine whether RAF1 patients have participated in the studies because most studies have been done prior to the identification of the NS genes. That, combined with the high percentage of HCM cases in RAF1 means the population of RAF1 patients within the studies is likely very slim.
So not that much help in the end except the implication that if Lauren isn't showing clear signs of HCM, starting GHT is not going to cause it. If she develops HCM, she was going to develop it anyways and might have gained a few inches in the meantime.
But then the argument continues that height is a societal issue not a health issue and ultimately, is it worth the risk to her heart, given the absence of data?
So the jury remains in deliberations for another couple years.
Tuesday, February 7, 2012
Kindergarten Registration
It's done.
All that can be done - by me - is done.
Yesterday I picked up the French Immersion Kindergarten / JK registration package, with the usual name, address, prove-you-live-in-the-district type questions.
And that one little box titled "Medical Condition" where I have to write, in bold, permanent ink: Noonan Syndrome. That box that most of the parents entering the school probably don't even realize is there.
It's official. She's into the school system and she has a "syndrome" tied to her name and being.
I met with the principal today with the completed application form in hand. Attached to it was the audiologist's report recommending a soundfield FM system for her classroom. Also attached was a document "from" Lauren explaining her uniqueness, how each thing affects her behaviour and how her teacher can help. The last document added was a copy of the NS growth chart marked up to show how tall we can expect Lauren to be at the start of each school year, how tall that is in "normal years" compared with how tall her peers will be.
The principal asked if Lauren has any language acquisition issues and was satisfied with my answer. Lauren is fine in that regard and her SLP is fully supports Lauren learning a second language. Hooray! It had been suggested that some immersion schools try to dissuade parents of children with SLP on their health record from enrolling their kids in a second language system. One less argument to make.
She also asked whether Lauren would need an EA to which I confidently replied, "No. If there's one there already that can help with little things then great but no. She won't need an EA." The principal's reply was something like "Then just some really good helpers..." Yep. Did I mention I really like this woman? No? Well I should have. She's already thinking about what will make it all work.
The audiologist report went today because I've been warned by the KidsAbility hearing coordinator that it can take a very long time to get technology implemented. The principal confirmed this and promised to get the calls started right away to make sure WE do everything we can to get it in place for September.
I came away from our meeting with a sense that Lauren's condition and the challenges it presents are of interest to her. That Lauren is not just some thing to be "dealt with" and that we'll be working together to get things in place. It won't be "us" against "them" or, if it is, she'll be in part of the "us" and not the "them".
I'm still a bit freaked out. Not overtly but I can feel it in my gut and shoulders.
Nothing more we can do. The rest of the paperwork from all our service providers are collected by another organization then it all goes to the school. After that we have a meeting with the school, all the relevant therapists and the teacher in April or May.
Til then, we wait.
All that can be done - by me - is done.
Yesterday I picked up the French Immersion Kindergarten / JK registration package, with the usual name, address, prove-you-live-in-the-district type questions.
And that one little box titled "Medical Condition" where I have to write, in bold, permanent ink: Noonan Syndrome. That box that most of the parents entering the school probably don't even realize is there.
It's official. She's into the school system and she has a "syndrome" tied to her name and being.
I met with the principal today with the completed application form in hand. Attached to it was the audiologist's report recommending a soundfield FM system for her classroom. Also attached was a document "from" Lauren explaining her uniqueness, how each thing affects her behaviour and how her teacher can help. The last document added was a copy of the NS growth chart marked up to show how tall we can expect Lauren to be at the start of each school year, how tall that is in "normal years" compared with how tall her peers will be.
The principal asked if Lauren has any language acquisition issues and was satisfied with my answer. Lauren is fine in that regard and her SLP is fully supports Lauren learning a second language. Hooray! It had been suggested that some immersion schools try to dissuade parents of children with SLP on their health record from enrolling their kids in a second language system. One less argument to make.
She also asked whether Lauren would need an EA to which I confidently replied, "No. If there's one there already that can help with little things then great but no. She won't need an EA." The principal's reply was something like "Then just some really good helpers..." Yep. Did I mention I really like this woman? No? Well I should have. She's already thinking about what will make it all work.
The audiologist report went today because I've been warned by the KidsAbility hearing coordinator that it can take a very long time to get technology implemented. The principal confirmed this and promised to get the calls started right away to make sure WE do everything we can to get it in place for September.
I came away from our meeting with a sense that Lauren's condition and the challenges it presents are of interest to her. That Lauren is not just some thing to be "dealt with" and that we'll be working together to get things in place. It won't be "us" against "them" or, if it is, she'll be in part of the "us" and not the "them".
I'm still a bit freaked out. Not overtly but I can feel it in my gut and shoulders.
Nothing more we can do. The rest of the paperwork from all our service providers are collected by another organization then it all goes to the school. After that we have a meeting with the school, all the relevant therapists and the teacher in April or May.
Til then, we wait.
Monday, February 6, 2012
Skipping Second - Gear That Is
Just when we thought it was over... the Jeep goes back in for service tomorrow (see "This is Getting Ridiculous" which doesn't mention the fact that the Jeep ended up off the road for nearly two weeks over Christmas). The guys are going to check to see what's up with the transmission. Driving is fine so long as I don't try to get into 2nd gear.
So.... I don't.Not the smoothest ride ever but at least we can still get where we're going!
So.... I don't.Not the smoothest ride ever but at least we can still get where we're going!
Thursday, February 2, 2012
Don't let me read the local paper any more...
I don't always read our free local newspaper. I don't often read any newspaper. I always figured it was not from lack of interest, just lack of interesting content. Now I think it's because people piss me off.
For some reason, I picked up this week's edition and started my way through it - made it as far as the "Letters to the editor" where, after only two of them, I had to put it down in muttering fury.
Seriously people. Get over yourselves.
Perhaps not everyone has a blog... though in this day and age how can they not?... so they use the local paper as their forum to air their beefs. This time it's with our school.
To be clear, not all the schools in the district, just the one my son goes to that is currently undergoing a boundary review.
It happens people. Get over it.
The background is this. Our school is built for 300-400 students if there are enough portables. With the all-day, every-day kindergarten program being implemented September 2013, added to population growth and the surge in French Immersion enrollments, we're looking at 500+ kids. There physically is NOT enough room.
Ergo, boundary review.
Conclusion? The kids being bussed in from another nearby town should be bussed the other direction to the pretty near brand spankin' new school instead of to our old, worn out, my hubby went to it it's that old, school.
And the parents are pissed about it. I get it. People don't like change. They don't want to have their kids go the opposite direction they do in the morning. It's a pain to have to drive the other side of town when you have to go to an appointment etc etc etc.
What triggered my muttering this morning were these two letters. First, a mom who has decided rather than send her kids to the new school, she will not enroll them in French Immersion at all. - Oooo! take THAT school board! - because the hassle of them going the opposite direction was too much.
So what you're saying is you'd rather have convenience than the best education for your child?
The second letter the mombitched complained that the bus ride to the new school would take longer (technically it is more kilometers but it is actually LESS minutes in transit because of the route speeds) and her JK kid wouldn't get home until after 4pm.
Here's my suck-it-up-lady comment "Suck it up lady! My kid is at that school. He started when he was 3 1/2 years old and got home at 4:20pm for two years and shocker! he survived just fine. Oh.. and did I mention he also had to transfer buses? At 3 1/2? yeah. and if he and WE can do it, so can you."
We live closer to the school than they do and he still gets home around 4pm and he's the first one off.. So... somebody has to be dropped off later. Those kids getting off the bus after mine are definitely later than 4pm and none of us are complaining.
Maybe we should be.
Maybe I'll write a letter to the editor.
For some reason, I picked up this week's edition and started my way through it - made it as far as the "Letters to the editor" where, after only two of them, I had to put it down in muttering fury.
Seriously people. Get over yourselves.
Perhaps not everyone has a blog... though in this day and age how can they not?... so they use the local paper as their forum to air their beefs. This time it's with our school.
To be clear, not all the schools in the district, just the one my son goes to that is currently undergoing a boundary review.
It happens people. Get over it.
The background is this. Our school is built for 300-400 students if there are enough portables. With the all-day, every-day kindergarten program being implemented September 2013, added to population growth and the surge in French Immersion enrollments, we're looking at 500+ kids. There physically is NOT enough room.
Ergo, boundary review.
Conclusion? The kids being bussed in from another nearby town should be bussed the other direction to the pretty near brand spankin' new school instead of to our old, worn out, my hubby went to it it's that old, school.
And the parents are pissed about it. I get it. People don't like change. They don't want to have their kids go the opposite direction they do in the morning. It's a pain to have to drive the other side of town when you have to go to an appointment etc etc etc.
What triggered my muttering this morning were these two letters. First, a mom who has decided rather than send her kids to the new school, she will not enroll them in French Immersion at all. - Oooo! take THAT school board! - because the hassle of them going the opposite direction was too much.
So what you're saying is you'd rather have convenience than the best education for your child?
The second letter the mom
Here's my suck-it-up-lady comment "Suck it up lady! My kid is at that school. He started when he was 3 1/2 years old and got home at 4:20pm for two years and shocker! he survived just fine. Oh.. and did I mention he also had to transfer buses? At 3 1/2? yeah. and if he and WE can do it, so can you."
We live closer to the school than they do and he still gets home around 4pm and he's the first one off.. So... somebody has to be dropped off later. Those kids getting off the bus after mine are definitely later than 4pm and none of us are complaining.
Maybe we should be.
Maybe I'll write a letter to the editor.
Thursday, January 26, 2012
Old Hair, New Hair
Here's how it was though add an extra inch or so since the picture is over a month old:
And here`s the new:
JuJu said she could feel that it was thinner. She`s talented so I don`t doubt this in the least. A bit reassuring that it wasn't "just me". Feels funny to have a picture of me without Lauren in it. I figured I best take it before I washed it and couldn't get it to look the way JuJu intended...
I'm okay with it though still frustrated that it needed to be done (see Lingering Effects for the rant...).
And here`s the new:
JuJu said she could feel that it was thinner. She`s talented so I don`t doubt this in the least. A bit reassuring that it wasn't "just me". Feels funny to have a picture of me without Lauren in it. I figured I best take it before I washed it and couldn't get it to look the way JuJu intended...
I'm okay with it though still frustrated that it needed to be done (see Lingering Effects for the rant...).
Tuesday, January 24, 2012
The lingering effects of Toxic Shock
For the most part I feel much better. When people ask I generally say I'm fine. Does anyone really need to know that I'm still tired half the time, that it makes me cranky, that I'm borderline paranoid about getting sick again or that my hair is falling out?
And this hair thing bothers me. It shouldn't but it does. I have a lot - and I mean a LOT of hair. It's thick and fairly long and JuJu does a great job making it look amazing. The current cut I really like and that, I think, is the problem. My hair isn't, as JuJu put it, "my security blanket" and I've had short before. I've had short and boyish, short and sassy and just plain short. It always grows back. This time will be no different though I'm a little concerned that everything I've lost will come in grey...
The difference between that short and sassy and this short and sassy is the matter of choice. I'm not choosing short and sassy, I'm being forced into it by my own body. I don't know how long the shedding will last or how thin my hair will get. I already feel a difference and it's certainly not slowing down.
So regardless of how I feel about it, it has to go. At the very least, if JuJu cuts it short enough, I can blame it on the cats.
And this hair thing bothers me. It shouldn't but it does. I have a lot - and I mean a LOT of hair. It's thick and fairly long and JuJu does a great job making it look amazing. The current cut I really like and that, I think, is the problem. My hair isn't, as JuJu put it, "my security blanket" and I've had short before. I've had short and boyish, short and sassy and just plain short. It always grows back. This time will be no different though I'm a little concerned that everything I've lost will come in grey...
The difference between that short and sassy and this short and sassy is the matter of choice. I'm not choosing short and sassy, I'm being forced into it by my own body. I don't know how long the shedding will last or how thin my hair will get. I already feel a difference and it's certainly not slowing down.
So regardless of how I feel about it, it has to go. At the very least, if JuJu cuts it short enough, I can blame it on the cats.
Saturday, January 21, 2012
Finally on the slopes...okay... slope
We have enough snow (today at least) to spend a bit of time tobogganing down the slope in our backyard. Technically it's further back than the front yard but it works. It's steep enough to get a bit of speed but gentle enough that Lauren can go on her own and walk back up again. The last run had Roman zip across the driveway and into the fence. At least he missed the big maple tree...
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| The view from here |
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| This year, no broken leg to interrupt toboggan season! |
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Monday, January 16, 2012
It's all about Ears
It's that time of year when we start our annual and semi annual visit schedule. We're also amping up our occasional therapies arming ourselves for JK registration and all that goes with the quest for accommodations.
Today started with an appointment with our local ENT to clean out Lauren's ears. I asked Dr. D to also check her ear drums (he doesn't usually) because our second appointment of the day was with the audiologist.
There's still some fluid build up and the conversation turned to inserting tubes to drain them. We know from previous appointments and fluid filled ears that Lauren's eustachian tubes do drain her inner ears on their own. She`s been infection free (not like Roman... figures. The kid with the quote unquote normal ears gets the infections...) so I`m hesitant to go that route. I know it can be a good thing. I also know that fluid build up is a normal part of childhood (and life...) and believe that surgery is a step I`m not yet willing to investigate.
Predictably, the fluid in her ears did have an effect on the results at the audiologist's. Lauren did really well at the tasks. Each time she heard a sound she was to put a peg in a board or a chip in the slot or stack a block.
This was the first time she's done the tasks with Lynne and not me. It gave Lynne a chance to really see how Lauren was reacting to the sounds. Lauren's eyes light up when she hears the noise and connects to the task at hand. It's not something you can see from the booth. Today Lauren's reliability was good meaning the results on paper were quite accurate to what Lauren really was hearing. The results though were the worst we've had.
We've always known there's a deficiency and it usually floats around the 20db mark (meaning she doesn't hear things quieter than 20db and that everything sounds quieter to her than it does to us by that same 20db). This time she had a hard time hearing anything below 40db until it reached the higher frequencies.
Both Lynne and I are blaming the fluid in her ears but regardless, the recommendation to the school board is the same: an FM sound field system for the classroom. It's a room based system so all the kids will benefit and Lynne assures me that the school board usually implements recommendations made by an audiologist. This was encouraging as I anticipated there would be a fight from the board or the teacher. The "bad" news is that if the fluid stays, we'll have to talk more seriously about tubes. If we find that her hearing is deteriorating regardless of the fluid clearing, then she's moving from "mild" loss to "moderate" loss and we'll need to discuss the potential of personal amplification to make sure she isn't missing anything.
Especially since we're enrolling her in French Immersion. Her language acquisition hasn't been a problem to date but if her hearing is declining, she's not going to be able to keep up with a second language.
Today started with an appointment with our local ENT to clean out Lauren's ears. I asked Dr. D to also check her ear drums (he doesn't usually) because our second appointment of the day was with the audiologist.
There's still some fluid build up and the conversation turned to inserting tubes to drain them. We know from previous appointments and fluid filled ears that Lauren's eustachian tubes do drain her inner ears on their own. She`s been infection free (not like Roman... figures. The kid with the quote unquote normal ears gets the infections...) so I`m hesitant to go that route. I know it can be a good thing. I also know that fluid build up is a normal part of childhood (and life...) and believe that surgery is a step I`m not yet willing to investigate.
Predictably, the fluid in her ears did have an effect on the results at the audiologist's. Lauren did really well at the tasks. Each time she heard a sound she was to put a peg in a board or a chip in the slot or stack a block.
 |
| Lauren waits for a peg and a sound with the little plugs in her ears |
We've always known there's a deficiency and it usually floats around the 20db mark (meaning she doesn't hear things quieter than 20db and that everything sounds quieter to her than it does to us by that same 20db). This time she had a hard time hearing anything below 40db until it reached the higher frequencies.
Both Lynne and I are blaming the fluid in her ears but regardless, the recommendation to the school board is the same: an FM sound field system for the classroom. It's a room based system so all the kids will benefit and Lynne assures me that the school board usually implements recommendations made by an audiologist. This was encouraging as I anticipated there would be a fight from the board or the teacher. The "bad" news is that if the fluid stays, we'll have to talk more seriously about tubes. If we find that her hearing is deteriorating regardless of the fluid clearing, then she's moving from "mild" loss to "moderate" loss and we'll need to discuss the potential of personal amplification to make sure she isn't missing anything.
Especially since we're enrolling her in French Immersion. Her language acquisition hasn't been a problem to date but if her hearing is declining, she's not going to be able to keep up with a second language.
Friday, January 13, 2012
Some Chickens Really CAN Fly!
Get the right chickens (those from the game Chickyboom work particularly well) and they can be taught to fly:
First, set up a launching mechanism:
Balance chicken:
Prepare chicken for flight:
Launch chicken!
Celebrate chicken taking flight. While chicken looks like it's headed straight for Lauren's face this is an illusion. No Lauren's were hurt in the making of this episode.
Lauren did however, check with the Chicken, "aww, are you okay chicken? You need to land on your feet. Try again!"
First, set up a launching mechanism:
Balance chicken:
Prepare chicken for flight:
Launch chicken!
Celebrate chicken taking flight. While chicken looks like it's headed straight for Lauren's face this is an illusion. No Lauren's were hurt in the making of this episode.
Lauren did however, check with the Chicken, "aww, are you okay chicken? You need to land on your feet. Try again!"
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