Turning Now to Other News...

Last week, during a routine Google search, I stumbled upon a short bio of a Canadian researcher named Ben Neel. He works out of Toronto's University Health Network and is a Canada Research Chair for Signal Transduction and Human Disease

"Yes. Yes." You say, "So?"

He's studying, among other things, Noonan Syndrome and the protein mutations thereof. Seriously! He's looking at how the genetic mutations affect the protein production and the resulting symptomology and diseases. He's also the researcher responsible for finding the SOS1 mutation now associated with NS.

"Yes. Yes." You say again, perhaps with a bit more interest... "So?"

What drew my attention was the final line of the bio on the Canada Research Chairs website:

By understanding the molecular mechanisms by which Shp2 [PTPN11] and SOS1 mutations cause diseases, Neel can work on treatments that reverse at least some of their harmful effects and lessen their impact on quality of life.

Treatments!

The site bio is almost two years old. Feeling brave, and figuring I have nothing to lose and lots to gain, I sent an email asking for more information and hoping I didn't sound like a nut.

Within the hour, I had a response. After emailing back and forth I was able to clarify what information I was looking for (Quoted from my email):

If we were having coffee, I'd ask, quite simplistically, "How's it going? That working on treatments thing...? Any progress?"

I'd follow up with, "Do you know if the amino acid/protein changes from RAF1 gene mutations are similar/the same as those of Shp2 and SOS1?"

To which I received the following reply:

As far as therapies go, it is too early to be sure. We know that the cardiac valve defects in Shp2/ptpn11-dependent NS are due to too much activation of the Erk1 kinase during development. But it is unclear whether this can be reversed post-birth, and unfortunately, we probably can't answer this using our mouse models because mice w/valve disease die right after birth.

We don't know yet whether the other problems (height, etc) are due to too much erk, but I suspect they are since our initial data on the raf mutants shows same effects as shp2 mutants.

We do have mouse models of raf1 mutants with increased and decreased kinase activity-and we know that they are not the same (the increased activity mutants cause decreased viability, the decreased mutants are normally viable, but they do have short stature). We don't know yet if the increased raf mutants cause hypertrophic cardiomyopathy (thick hearts) but if they do, we will test them with drugs that inhibit erk (actually, mek) activation to see if we can reverse the phenotype.

Isn't this exciting? Every time I read it my heart picks up.

While it's unlikely we'll see solutions or treatments during the lifetime of our children, I can, at the very least, draw courage and hope from the simple fact that someone is actively working on my daughter's behalf. Researching to better her quality of life. And if not hers, than at least for someone.

Happy Birthday - Part II

Lauren's birthday celebration continued yesterday when extended family members were able to join us for lunch.

The week leading up to Saturday was difficult and emotional, remembering her arrival, the news of Noonan Syndrome, the resulting dramatic change to our lives in addition to simply adding her to our family and all that entails.

Friday was busy with cleaning, icing cupcakes, and prepping meal items like chili and tuna melts. Thankfully a good friend was willing to come visit for a bit. Our sons get on very well so having them over meant a distraction for Roman as well as an extra pair of hands for prep work or just holding Lauren. It was Martha who actually did the base coat on the cupcakes so I could put the bugs on later.

Of course, after all the food was prepped, two families canceled. One with two younger children because Roman has a cold and they would be visiting a newborn the next day. The other who's youngest spiked a fever and was feeling just plain lousy. I respect both decisions because they're the same ones I would've made.

In the end, everything turned out just right. Lauren napped in the morning for over an hour. After a week of 20 minute naps, this was greatly appreciated! Plus, all the family members who able to join us get along well, have lots to talk about and were just the right amount for it to be a party without being a zoo.

Lauren had her first taste of cupcake and LOVED it! She mooched more from Great Grandma who was more than happy to oblige. I had to tell them both, "No more!"



She, and Roman, loved her gifts - books, Fisher Price little people animals and a snow leopard now named "Ka!" which is Lauren's word for "Cat" and her first and only spoken word. She's now mooching more baked goods from me which today included a roll. She pulled my hand close enough that she could get the bread into her mouth and took a nibble. Last night even having had cake, she didn't have any more or less nighttime gas than usual. If tonight it the same, we can officially expand her diet. Fingers crossed!

Birthday Girl

One year ago this evening - 9:14 pm to be precise - our daughter officially joined our lives.

Today has been the entire year in miniature. Most of the day was fine with her in good spirits. Napping was a disaster and bedtime tonight has been one screamfest after another.

The happy moments though have been caught on 'film'.

Look at me! It's my birthday!

"KKh-a" (our first word!)


Enough of the pictures already!


Mmmm eggs.


Me and my papa. Happy Birthday to me!

We are very proud of our little girl.

Flotsam and Jetsam

You Must Be This Tall to Ride

Take a moment. Close your eyes and picture your favourite roller coaster. Remember what the seat feels like as you settle in and adjust the harness. Ponder the smells and sounds and the chuff chuff chuff as it climbs clumsily up the first big hill. Remember, or imagine, the view going up that hill. Seeing for miles, feeling the wind on your face and the deep pit of the stomach excitement knowing it's right there. You're in the front seat (I LOVE sitting in the front seat!) and as you get to the top, remember the looksweatypalmexcitementterror as you look down over the edge waiting anxiously for the brakes to release, when the roaring of speed, noise and wind will over take everything. Remember that two minutes of ride where nothing else seems to exists.

I am looking over that edge.

We have our first physical therapy (PT) appointment scheduled. We'll be going for an hour, every week or two while Roman is at preschool. Amy, the therapist, was part of our assessment at KidsAbility. Lauren seemed to like her well enough so I'm glad there will be come continuity.

We also have our next cardiology appointment booked for March 10th. Kevin will take the day off work to spend with Roman. It will be good for all of us. They haven't had a Roman-Papa day in a while and I've never taken Lauren for a longer journey on our own. (The cardiologist is about an hour away by 401 highway...)

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The Doctor is In

Yesterday we took Lauren to her regular pediatrician for a checkup. She's had a lingering cold and the Dev Ped at the assessment also thought her left ear was blocked. We are scheduled for her one year checkup next Thursday but rather than wait, given the two items, I took her in early. Theoretically, she wouldn't need to go back if all is well. She could have her immunizations now and save us a trip next week. Dr. Loyson figures her ongoing cold is viral but didn't want to give her any immunizations until it clears a bit more. Her ears are fine though so we'll have to wait for the hearing test (referral from the KidsAblility assessment) to see if there is something more going on or if Lauren was simply being selective in her reactions.

I took the opportunity to ask Dr. Loyson about the pain Lauren seems to be experiencing during the night. Specifically I asked about joint and bone pain that I've read is associated with Noonan Syndrome.

I was really impressed with his response. He said he didn't think so but 'wait a moment..' and retrieved a text book. Right in front of me he looked up Noonan Syndrome, briefly read through the various sections including musculo-skeletal before confirming that he didn't think it would/should be an issue. Takes courage to admit you don't know and to actually look something up with the client right there.

As we continued our conversation though he suggested that perhaps she was experiencing reflux even though she's never really spit up much. This would be consistent with Noonan Syndrome and I wonder if reading through the NS description was helpful after all. I also think it fits since it's a nighttime problem when she's lying down. I know my heartburn was always worse at night and it didn't matter what I ate or how much. We've filled a prescription for a children's version of Zantac and we'll give it a good. If it helps her sleep more peacefully, it's worth it.

Her growth is already slowing as we knew it would. She's now 26.5" and just under 18 pounds. It's only half and inch taller than her 9 month check up but I guess it's something.

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FaceOff

We have a cousin who works at Facebook. Great guy. I'm not currently a Facebook user. It's not my thing but I thought I'd check it out anyways and see what's there for Noonan Syndrome - people, groups, etc.

I came across a group that puzzles me. It was called "Help Find a Cure For Noonan Syndrome". Okaaaaaay. So... just how does one propose to cure NS? I'm thinking it would involve significant gene manipulation or the elimination of an entire subset of the population and even then, since there's a significant percentage of random mutation (like Lauren), even if it were 'cured' in the general population it would certainly return all on Its own. Sorry group leader. You lost me on this one.

February 4, 2009 - Developmental Assessment

The final referral on our list from the geneticist occurred this week when we met with a developmental pediatrician. We're VERY lucky that this could be arranged locally. To meet with someone at McMaster would have taken 18 months and we would only have one appointment. Ever. It's just as well they lost all the paperwork on that referral.

Through Lauren's pediatrician, we were referred to KidsAbility.

Our assessment appointment was 90 minutes of playing, answering questions, showing what Lauren can do and highlighting where she needs help. In addition to the developmental pediatrician, the assessment team included an occupational therapist, physical therapist, and a speech pathologist. There were also two medical students and a community services rep watching from another room.

Considering Lauren woke up at 6:30 in the morning, hadn't had a chance to nurse and hit her three hour nap window right in the middle of the appointment, I think she did a stellar job of staying sociable!

It really was an enjoyable session if I can call it that. The questions were reasonable. I didn't feel threatened or that my skills as a mother were being challenged. Everyone seemed to truly know what Noonan Syndrome is and how it affects both physical and cognitive development. They also seemed to genuinely care about Lauren, how she's doing and how to make sure she develops quickly and properly within her physical limitations. We'll be working with all the people we met which is also reassuring though I'm hoping the community service rep will assign someone else to Lauren. We're in it for the long haul and she and I didn't really connect.

I was expecting to walk away with an idea of how many months 'behind' Lauren is but that sort of wording never came up. There was nothing 'behind' or 'ahead'. The only sign of anything unexpected was the occupational therapist being thrilled that Lauren has already mastered a sippy cup.

She just is where she is.

Our list of next steps though, is extensive.

From the developmental pediatrician, we are meet with her every six months to monitor progress, have Lauren's hearing checked annually, and see the ophthalmologist every three months instead of six.

The physical therapist, who works on gross motor skills, has added us to the waiting list for ongoing therapy. In the meantime, we need to do more tummy time to build Lauren's shoulder strength, help her pull herself to standing and practice cruising more (which we do so this one's easy) and when she's on her back, we're to roll her on her side and help her push herself into a sitting position. This one is a bit tougher but it's mostly a matter of remembering.

The speech pathologist has referred us to a program called "Wee Talk" and we're to continue having babbling conversations and to make a point of repeating her sounds back to her. We're also to encourage gesturing and for Lauren to communicate what she wants through pointing and reaching. On a side note, Lauren does sign "More" and "Finished" though when she uses them, they could mean "food" and "get me up!"

The occupational therapist, who works with fine motor skills, has also added us to a waiting list and has suggested giving Lauren a doodle pad with magnet shapes to "scribble" with as well as encourage banging toys together. Lauren already passes things from hand to hand very effectively but I guess she should still be banging things together. She also wants us to encourage Lauren to reach further to the side when getting toys. This will help build her core muscles along her sides which in turn will help with her gross motor development.

The final bit was the community service rep letting me know we qualify for their program as well and would be contacted about an appointment. This took some work to figure out. When I asked what exactly they do, the woman was vague and repeated her introductory sentence. I was finally able to clarify that, among other things, they can arrange for someone to come to our house to work with us, in our environment, with our toys, etc, to practice/refine the therapy and/or steps we're assigned at our other appointments.

Out of 90 minutes we walk away with seven pending appointments.

Despite how well things went I came home in a fowl state of mind and it took me a few hours to figure out why.

At birth my Lauren was just Lauren. Later she became Lauren with Noonan Syndrome. Now she's Lauren with "Special Needs" and being lumped in with all the rest of the children with 'special needs'. Not that having special needs is something to be ashamed off but for me it shattered the last shred of hope I had that Lauren's issues would be limited to her physical appearance. Life won't be normal with Lauren simply looking different. It will have to be its own type of normal where we drive to appointment after appointment. We do however, get to watch her grow up in slow motion - at least for now.

I am going to relish it.

February 5, 7:45am - Need I say more?

January 8, 2009 - The New and Improved Ophthalmologist

If you've been following along for a while now, you know that our last ophthalmologist appointment was a colossal waste of time.

Through our pediatrician, we were able to see an ophthalmologist here in town. This, for the reduced driving time alone, I am thankful.

The appointment was expected to take approximately 45 minutes. Not a foreseeable problem, or it wasn't until Kevin's schedule changed having him in Toronto for the day and leaving Roman, once again, to join us for yet another eye appointment. I decide this is not going to be a problem and proceed to pack what I deem to be 45 minutes worth of activities for him including puzzles, a new paint with water book and self watering brush, some snacks, and so on - all the things a preschooler would need to keep busy for 45 minutes while mom and sister work with the doctor.

What no one told me is that these are 45 minutes are not consecutive minutes in one location. Instead, it was 10 minutes here, 10 minutes there, in here, out there, wait a bit, come on back...

Here's how it went:

Picture me with a diaper bag, toy and snack bag, blanket, plushy and 10 month old in my arms plus a 3 year old in tow, all in significant winter gear including hats, mitts, scarves and boots. We are escorted to the waiting area where five or so people are already sitting. Expecting a wait - there are five other people after all - I proceed to remove coats, hats and mitts, then unpack toys for Lauren and a snack for Roman. Next thing I know, we're being invited into an exam room.

"Really? Already?" I ask, a bit stunned. The assistant cheerfully informs me that they really try to keep the pediatric visits on time and quick. This I can really appreciate. It means, however, that I need to gather everything that has spread like shrapnel around us - coats and various outdoor paraphernalia, snacks, toys, blankets and two children, one who can't walk for herself and the other who's timid in a new place - up and into the exam room. It takes two trips and a bit of wailing from at least one of said children.

In the exam, we go through the usual questions about labour, delivery, health status, etc while Roman sits contentedly snacking at the end of the counter and Lauren sits quietly on my lap. The ophthalmologist arrives, reviews the earlier questions, and decides we should go through the process of eye drops and through exam. Great. This is why we are here and why I'm prepared with multitudes of toys, etc. The drops go in and...

we're asked to go back to the waiting room.

Oye. Repeat process of gathering, carrying, hauling and cajoling out of the exam room and back into the waiting area. Now I'm starting to get flustered. I don't often get flustered but I'm not usually in a position like this - where my preparations are actually working against me.

We settle back into the waiting area, finish snacking, play for a bit doing puzzles, painting, and generally having not too bad a time as far as waits go while Lauren's pupils dilate sufficiently. Of course, for Dr. T to finish the exam we have to haul aaaaaalll our crap (notice it's no longer considered entertainment but has relegated to "crap"...) and ourselves back into the exam room. I left our winter gear piled on a chair in the exam room. At this point I figured if someone wanted any of it, they could have it.

Back in the room we go. Roman is now working on puzzles in the corner, Lauren's toys are piled with the diaper bag and Dr. T checks the internal structure of Lauren's eyes. We talk about the long term process, Lauren being checked every 6 months to ensure her eyes continue to function properly and leave it at that. All in all, a good appointment since the earlier two-second diagnosis of everything being fine had been verified. Now however I have to gather everything back up again to get out of the exam room. Meanwhile some puzzle pieces have fallen into tough to reach places and Lauren is in no mood to be put down.

I felt as though everyone looking at me saw a spazzy completely disorganized mother who wouldn't be able to keep her kids lined up if they were eggs in a carton. I repeat now for my own self image: I am not a spazzy completely disorganized mother. I am not a spazzy completely disorganized mother. I am not a spazzy completely disorganized mother....

That reminds me, I need to call Mac to cancel the other ophthalmologist appointment...