Merry Christmas and Happy 2010!

Christmas was an adventure. We try to spread things out which is a definite plus. Spreading things out starts with opening some presents on Christmas Eve day including Lauren's favourite - a horse from Roman. As soon as Ney was out of the box s/he was snuggled and loved. Since that moment, when Lauren is prompted to choose an animal to take a long, she picks Ney.



Christmas morning at home we opened only stockings. Santa scored big points this year bringing exactly what Roman asked for including battery-powered Thomas trains for both Lauren and himself. We then spent Christmas day with Kevin's family opening presents, visiting the extended family etc. Great Grandma gave Lauren some fun bright coloured pjs. As soon as she saw them, Lauren started to take of the pants she was wearing so she could put on the new clothes. After lunch when we put her into her party dress, she insisted on wearing the striped pj bottoms underneath.

We spent Boxing Day with my family which meant another full day way from home. The kids both did pretty well. Our family spoiled the kids with lots of fun presents including a fun purple party dress from Tante Moosie. Once again Lauren combined elegance with her own special casual touch with striped fuzzy socks.

Yesterday was spent at home, just us, where the kids opened their remaining presents and played with some of the fun things they received. It's been a bit of a crashing process for all involved and I think Roman is actually feeling a bit overwhelmed by everything waiting opened under the tree. I suggested that perhaps we could put some of the presents away to take out again on another day. Roman thought this was a good idea. So far he's gravitated to the more familiar like his trains and the RC trucks.

In the midst of all this fun and chaos, we're in the middle of potty training Lauren. She looks so cute in her teeny tiny undies. No accidents on either holiday day away though she made up for it yesterday. In some ways it's more like parent training as we need to remember to remind her and quite frequently at that but it's working. It is an absolute joy to have the diaper pail put away and not have the extra smelly laundry loads to run. We have more clothes going in the machine but it is completely worth it!

We'll spend the balance of the week putzing and playing. Kevin and I are trying to make a concerted effort to play and pay lots of attention to both even though we'd both really like to veg, read, sleep and generally hide for a day or two.

New Year's Day has traditionally been the day to take the tree down and move into the next stage. We'll see if I last that long. I find the waiting to be a bit trying sometimes and, anticipating how January is usually a trying month for me, like to just "get on with it".

The coming month is full of appointments for Lauren starting with a follow up with the GI specialist, another session with the audiologist, PT and a hormone stimulus test. Thankfully the administrator booking this appointment was really understanding about how trying it's going to be for all of us is making special arrangements for us to start at 7:30am. Lauren will need to fast from midnight the night before and won't get to eat until after the test is completed - likely 4 or 5 hours after we start. Oh joy! The only plus is the stimulant *should* make her sleep through the entire morning. We'll keep our fingers crossed on this one!

Roman is looking forward to getting back to school. He asks me every morning if it's a school day...

So, with the flurry of activity on the horizon, I will wish all a wonderful, exciting but medically uneventful 2010.

Doggie Days - Take III

We met the most wonderful puppy on Tuesday. We piled into the car early in the morning for an hour drive to meet Tetley. His foster mom welcomed us with coffee and juice while Tetley decided whether to come great us or not. With his big floppy ears and giant dark eyes, he was adorable peering down from the stair landing.

Eventually he made himself comfortable at the backdoor and let me rub his belly. After that it was kisses and business as usual.

He didn't really pay too much attention to Roman and Lauren except when Lauren had treats to give out. I was amazed at how gentle he was taking treats from her little hands especially for a 5 month old puppy.

After a suitable warm up time, we packed everyone up - Tetley and his foster mom in their car, the four of us back into the jeep - and off to the dog park we toodle. Tetley lit right up at the park. I'm not sure I've seen a puppy his age run so fast! The other dogs were all about the same size as Tetley and he was joyous to watch. As new people arrived he would check them out, give a little sniff hello and back into the fray.

When we came home, chilly but excited, we decided we would like to add Tetley to our family provided his foster mom didn't have any reservations about us as a suitable family.

While there weren't any concerns about us as adoptive parents there were some solid reminders about how much time Tetley was going to need because of his age. That, plus his energy level mean he's going to need a lot of outside time. All good. Until someone mentioned having a picture of how Tetley is going to fit into our lives.

I do have a picture. I've had a picture for a while now of how a dog will fit our daily routine. I also had a picture of how Lauren would fit into our lives. It was a crystal clear picture and it was shattered the day we brought her home.

I wasn't prepared to make that mistake again and took a really hard look at what I was proposing and wanting to do. I also had to pack the kids up to visit friends. It's a thing we do daily - socks, boots, coats, scarves, etc. But for some reason it took extra long and extra convincing and it was chill-ee.I realized with clarity that there were going to be a lot of days that taking Tetley out for the exercise he would need in the depths of frigid temperatures. It's one thing to subject myself to those temperatures, it's something else to haul a kindergartener and a toddler out when they'd rather be inside warm and toasty.

It was a hard thing to do but we decided that it would be best for us to wait and for Tetley to stay where he is or with another family that can give him the extra outside hours he would need. If this winter is like last winter someone would get hurt - either the kids with frostbite or the dog with not enough time outside.

As well, my instincts tell me that while Tetley would be a wonderful dog for our family, he's not the PERFECT dog for our family so we need to wait. It's frustrating and a bit sad but I need to listen to my gut on this. Next winter will be different. The kids will be that much older and we'll be that much more prepared.

I am certain that our aussie rescue rep will find the perfect pup for us. We missed out on a perfect girl a little while ago but I know that another one is out there for us if we're willing to be patient. You all know how much I looooove waiting.

A Moment in Time

Just a moment to share that Saturday we met with four wonderful Noonan Syndrome families. We gathered at one family's home in Toronto, talked about ourselves, our kids, our experiences in an informal, warm and inviting atmosphere.

It was everything I hoped for and more. I'm looking forward to seeing them all again and expanding our network.

If you're in/near/wanting to travel to Ontario, let me know or join the online community. If you're not up for that, no worries. Just drop me a note or post a comment and I'll keep you in the loop.

Ho Ho Ho!

Today is Roman's 4th birthday. Often he seems to big and grown up. While the boys were waiting for the bus this morning Roman looked so tiny.

He's been amazing today. He loved his presents, shared with Lauren, and was amazing in his JK/SK Christmas pageant.

He sang and did all the actions - far more than I ever expected from him. Madame deserves a medal. Have a look. It's not super quality simply to make it web friendly. I am as proud as I could possibly be. It's a good think Kevin didn't take pictures of me with the tears of pride streaming down my face.

Could you turn that up please?

Following our ENT's recommendation, we had an appointment with Lynn the Audiologist yesterday. Lauren did really well and was very patient. Unfortunately she also looked for the dancing bears in anticipation which meant Lynn had to test longer to get accurate results. Did I mention Lauren is smart? She knows where the entertainment is... By the end though, Lauren was bored and stopped paying attention.

The results of all the audio and physiology tests continue to indicate that Lauren has some hearing loss. (How can it be a loss if she never had it in the first place? Shouldn't it be considered a deficiency? But I digress.) She consistently did not respond to sounds 20db or quieter. With lower sounds it was even worse with no responses til, I think 30 or 40db. This is consistent with our earlier visits. In this case, consistency is NOT what we were hoping for.

Thankfully normal speaking tones are in the 50-60db range. Lynn commented on my strong clear voice, expressing that it's part of why Lauren is actually developing language, even if it is slow. She explained though that while we may be speaking at normal level, Lauren is hearing it more muted. Makes sense in a way. I had envisioned that quiet things she just didn't hear while everything else was as we hear it. Not so. Take everything down 20db and that's how she hears it. Even worse if we're obstructed or far away. If we're in the fridge asking Lauren if she wants "milk or juice?" Lauren could be hearing only "mumble mumble mumble muuh?"

Given the curves on the results, Lynn suspects there's permanent conductive hearing loss such as that caused by fused bones in her inner ear. Deeper sounds require stronger vibrations from the bones to be heard properly while higher pitches need only tiny fast movements. When bones are fused, the deeper pitches don't come through as the bones don't move as readily as they should. But she was adamant that she's only speculating.

I really appreciated having the example. It helps me understand what and how Lauren is hearing - or not as the case may be.

We go back after Christmas to try one more test which should help narrow down the deficiency source.

Ultimately we'll be going back to Dr. Denny and Lauren will need to have a full internal exam done. The results from Lynn are the same or worse than before and as Denny cleared out all the wax last week, we can be fairly certain that was not the hindrance.

At this time, this situation causes me more distress than anything else we've encountered. Perhaps because all along, with everything else she has to deal with, I was reassured because her vision is good, she could hear and move on her own. Her overall health is good and even her heart troubles are moderate compared to how it could've been. And now a core piece of my belief is wrong. She can't hear properly. How much as she been missing? How often have we tried to soothe or comfort her but weren't successful simply because we weren't loud enough?

And the ramifications for the future. She'll need to be at the front of the class for yet another reason plus too much ambient noise will make it harder for her to learn. And kids are cruel. It's bad enough she looks different. How will it be when they find out they can talk about her and tease her and she literally won't hear them? I feel a bit broken inside for my little girl.

It isn't fair. It's never been fair but now I want to really beat it into someone to just leave my little girl alone. Enough already. She's got ... enough... already.

Hooray for OT

We had great news last week when we met with Paula, our OT. Lauren is doing amazing with fine motor skills. With Lauren at just over 21 months, Paula used the 24 month standards as a basis to work by. We played with toys and answered questions. Lauren showed off all her skills - feeding tiny corn cobs to a pig using a metal scoop, taking of and putting shapes on pegs, putting neck pieces in a slot on a giraffe then pushing a button to make the head go higher... really fun stuff. With all her progress there and her ability to feed herself and drink through a straw, Paula sees no areas for concern at all. She was pleasantly surprised by a lot of Lauren`s skills. Me too when I found out they were on par with a 2 year old!

Of course Lauren`s speech is delayed but we knew that already. We also wowed Paula a bit with a potty training discussion. She gave us some helpful literature for helping kids with special needs master the art of toilet using. Her biggest advice, "Once you start, just don't look back".

The previous week we had a playdate at a friend's house. Her two kids are the same age as my two kids and they seem to all get along wonderfully. Her daughter is on well on her way to being potty trained and one of the big things is a potty close to the play area and going commando most of the time. Lauren was great and used the potty there. Since that experience plus Paula's words have inspired us to give it all we can and Lauren has been amazing.

I know, without any doubt, that a huge part of our progress is due to Lauren pooping on the potty since she started solids. She already knows what a potty is for and is comfortable with it. No learning curve there or fears to deal with. Our primary challenge is helping Lauren know WHEN she needs to go and then how to tell to us that she to. Often our asking her and helping her get there is enough. That and singing a potty song I made up. Since we've started singing, she's really getting the whole thing figured out.

We've put away the cloth diapers and have her in teeny tiny undies. Have to confess we found some Disney ones at Walmart that are just right. Not impressed that they're princesses but it seems tiny butts can't be choosy butts.

Our little princess is super smart and she's making amazing progress.

I, for one, am simply happy to be rid of that big, smelly diaper pail. It's the little things...

Doggie Days - Take II

In October we were approved by the Ontario Australian Shepherd rescue organization as a suitable home for an aussie. Our rep, Jane has been wonderful and has been watching for the perfect pooch for us. We're not set on colour, age or gender though I confess to being drawn to red tri's and only require that the dog be good with cats and children.

It seems that Jane may have found the perfect pooch for us. Actually, she did but there were two families in line for Gossip first and family number two adopted her last weekend. Hooray for Gossip. Boo for us.

There is a second red in Ottawa named Q who really drew my attention however making arrangements to meet her is proving unmanageable. A trip to and from Ottawa in a day to meet a dog that may or may not be right for us is, well, insane. I had considered, and suggested meeting the Ottawa rep half way but I think Q may actually be spoken for. Hooray for Q. Boo for me.

That all said, Jane has been hinting at a third pooch for us. An 18 week old puppy named Tetley. He's neutered, fully house trained, relatively cat oblivious and has, as yet, no adverse behaviour towards kids. He hasn't had a lot of exposure but according to Jane, and the books I've been reading, now is the time. If Jane had room for one more, she'd keep him for herself. With a recommendation like that, how can I say no to meeting him?

We're in touch with his foster family and will be meeting him the week after next. If we all fall in love, we'll be bringing home the week after Christmas.

Have a look ... I'm pretty sure we will all be falling in love.

The Endocrinologist - Take III

Thursday was our first solo trip to the Endocrinologist. By solo I mean no Kevin along for company or entertainment. We did pretty well Lauren and I. The drive was fine though wet (it seems to always be raining when I go to Mac) and traffic reasonable. We tried a new route taking the newly opened York Road exit of the south bound Highway 6. You'd think by looking at the fresh pavement and how much work went into the overpass that it would be a major route but no. As soon as the highway is out of sight the road is narrow, twisty and rough with very few houses and not much traffic.

Just the way I like it. Quiet. No merging. No people forgetting how to use an on ramp...

The road wraps around the wetlands and drops you out the other side of McMaster and poof! You're right there. No 403. No Main Street. No problem!

Having had success with this part of the day, my brain must have been working extra well. I had a brainwave to leave our coats in the car. Not rocket science really but, given the current temperatures and level of fatigue, it felt like a brilliant idea. Now I only had a child, a stuffed dog, my purse and a diaper-slash-toy-slash-food bag to carry. Stuff Doggie in my purse, make Lauren walk and we're rockin'!

Our wait was reasonable which was a bonus since the entertainment (or lack thereof) wasn't quite up to par.

When we were called in, a nurse took Lauren`s weight, height and head measurements. I was stunned. Lauren is now 25 pounds. What? This puzzled me so much that when Dr. McAssey joined us and commented I guess my surprise suggested we weigh her again. A second scale confirmed it - 11.4 kg. Height, not as much change at 77 cm - just over 30 inches.

What's remarkable is that these numbers represent 2 inches and 5 pounds in 6 months. Dr. McAssey was very excited! More animated and excited than I've seen her before.

At least, she was until she saw where the numbers fell on the Noonan Syndrome growth charts. They're a big jump on a standard chart but on the NS chart, she's still at the same 25%. Sigh.

Now it was my turn to be the encouraging one stressing how this was consistent and that consistency was something we wanted to see right? Right. She's not dropping any further, just not gaining as much as one might hope.

What consistency also means is that we're on track for a hormone stimulus test in January. For most kids this happens much later - at 4 or 5 years old when they start to fall more off the curve. Lauren's already that far off the standard curve so the test will give us a benchmark and indication of what her body is actually producing.

I made it very clear to Dr. M that Lauren's growth has really happened in this last month or so - eating like a horse, growing pains, teeth all at once, suddenly outgrowing pants she's worn for a year... This suggests to Dr. M that when we do the test, we'll find that Lauren does indeed produce some growth hormone the question becomes how much.

The test is a bit tough to get through. Tougher for me I expect than Lauren. Here's how it works.

Lauren needs to fast from midnight the night before. We get to Mac as early as we can (probably 8am is the earliest they're ready) where she is given a stimulant by mouth. She'll also be fitted with an IV port so they can take blood samples every 30, 60, 90 and 120 minutes.

And repeat.

Lauren can then, after four hours, have something to eat and, assuming she's not having any adverse reactions to the medications or hormone levels, we'll be on our way. Thankfully the stimulant also makes Lauren very sleepy so we should expect her to nap through most of, or the entire, morning.

The test will be scheduled for a day in January with a follow up appointment with Dr. McAssey in February. I can see it all being pushed a month which is okay. It's not like a month either way is going to change the results.

We'll then have an idea of whether Lauren will qualify for growth hormone therapy. By "qualify" I mean, have it paid for by the government. Regardless, our cardiologist will have a big impact on our decision. With Lauren's RAF1 mutation, she's at higher risk of developing hypertrophic cardiomyopathy. It's irreversible and can be fatal. Severe cases require a heart transplant though many can be managed pharmaceutically. With results in hand, it'll be time for me to spend hours online reviewing research papers on the affect of GHT on HCM and weighing the options for our daughter.

On her current growth trend, she'll be less than five feet tall when she's done. Her target height, based on her parents, is 5' 5". A realistic goal with GHT.

But will it be worth the risk...

ENT... and no, not the big trees from Lord of the Rings

Today we finally had our ENT appointment (Ear, Nose, Throat) with Dr. Lin. Very nice guy, about our age and happy to have us work with first names instead of the ominous "Doctor" title.

The appointment started with the in-house audiologist. Lauren's responses were not as reliable as they were in May but the set up was different and I think Lauren just wasn't comfortable. In the end, the results were similar though inconclusive.

From there we met with Denny who admitted he knew nothing about Noonan Syndrome. Oddly, I appreciated his candor. I explained the basics, and answered the usual "How was the pregnancy? Did you know about her condition prior to birth? etc etc etc". Ultimately though it's Lauren's dysmorphic features that brought us there and the root cause of them isn't as relevant.

To recap, the audiology reports have shown that Lauren doesn't hear sounds quieter than 20db. Essentially, all the background noises we filter out automatically (the fridge running, cars far away, gentle wind, computer hum, etc) she doesn't hear but normal speaking voices are fine. It's not possible for an audiologist to tell whether the hearing impairment is due to fluid in the inner ear, wax build up or a neuro-sensory issue. That's were the ENT comes into the picture.

Denny had a look, then patiently and gently cleaned the potatoes out of Lauren's right ear. She actually let him. He commented repeatedly with surprise about her patience, lack of complaint, squirming or fussing. It may have been how I was holding her that helped but regardless, she was an angel.

Many times I've considered that Lauren knows when things are being done FOR her as opposed to TO her.

Next week we return to our regular audiologist for a repeat test to see what impact potato harvest has had. If Lauren hears more then we're simply good to go. If the results are similar to before then Denny needs to have a formal look around. That means a meeting with an anesthesiologist to determine any risks then booking an appointment for a internal ear exam including microscope. If Denny finds there is fluid build up, he'll insert tubes then and there.

I questioned the necessity of tubes. Let's be honest.. the idea freaks me out a bit for some odd reason. However, he explained that in cases with congenital defects in the head, face and neck, the eustatian tubes are often malformed. It means that fluid build up will not resolve on its own as it would for the normal population. If there is fluid build up that can't clear, it will have long term impact on her hearing and her language acquisition. In this light, I have to put my hesitations aside and go with it.

If it turns out that there is no fluid build up or that draining existing fluid doesn't change Lauren's hearing levels, we have to consider whether hearing aids are appropriate. Thankfully, this is a decision for another day.