Noonan Syndrome is a genetic condition affecting physical appearance, the heart, growth and sometimes, cognitive development. NS occurs in 1:1000 - 1:2500 births. Lauren's genetic variation has never been recorded before and is a spontaneous genetic shift as neither parent carries this change.
It affects her physically and the rest of us by proxy. These are the tales from our family.
Friday, December 30, 2011
Thursday, December 29, 2011
Good-bye 2011, Hello 2012
First the bad news - the troubles just keep on comin'. Turns out it not just the clutch on the Jeep that needs replacing but the fly wheel as well.
AND, for whatever reason Chrysler deemed necessary, it has a fly wheel that's usually used in diesel engines and therefore a) not readily on hand and b) more expensive.
Joy.
Wrong kind of joy.
The good news? There's only 2 more days left in 2011!
The other good news? Our Christmas has been wonderful. We opened presents at home on the 24th,
spent the 25th with hubby's family
and the 26th with mine.
Everyone spoils the kids because there aren't that many of them in the
families.
Food was wonderful, the gifts all perfect and time with everyone was just right. I'm almost ready now to pack up the festivities and move on to 2012 -
and not just because our luck is bound to change...
AND, for whatever reason Chrysler deemed necessary, it has a fly wheel that's usually used in diesel engines and therefore a) not readily on hand and b) more expensive.
Joy.
Wrong kind of joy.
The good news? There's only 2 more days left in 2011!
The other good news? Our Christmas has been wonderful. We opened presents at home on the 24th,
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| Roman, now in possession of the coveted Lego Fire Station, is glowing with excitement |
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| Lauren guards her new RC "Morphibian" car with a tight grip and "Mine!" |
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| Investigating the Princess pencil set from Santa |
Food was wonderful, the gifts all perfect and time with everyone was just right. I'm almost ready now to pack up the festivities and move on to 2012 -
and not just because our luck is bound to change...
Friday, December 23, 2011
"I'm not gonna make it"
When it was "three more sleeps til we can open presents", Lauren very somberly said, "I'm not gonna make it...".
Present opening day has been a long time coming for Lauren and Roman. This week she had a party a preschool including a visit from the "Big Guy"
I was surprised how quickly she climbed onto his lap and how happy she was to be there.
What you can't see in the picture, is her cat tail from Hallowe'en... There have been plenty of days where we have three black cats instead of just two...
Lauren also showed that boxes are still the best part of the present... or that cats love cardboard to hide in?
Present opening day has been a long time coming for Lauren and Roman. This week she had a party a preschool including a visit from the "Big Guy"
I was surprised how quickly she climbed onto his lap and how happy she was to be there.
What you can't see in the picture, is her cat tail from Hallowe'en... There have been plenty of days where we have three black cats instead of just two...
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| Lauren the Kitty checks out the tree and presents |
Monday, December 19, 2011
This is getting rediculous
Roman is pretty well back to normal and back on the school bus today.
For that I am thankful.
Hubby is home and without a lot of [paid] work to be done.
For that I am thankful.
The Jeep however, is not healthy and needs [to be paid for] work to be done.
I am not thankful and not the least bit happy.
Sigh.
We thankfully have a mechanic close by who can squeeze us in tomorrow afternoon. I stopped in, with Lauren in tow, and one of our two guys came out, had a listen, took the jeep for a little spin and said.... "Mmm. can you bring it in tomorrow?" and nixed any plans we had to go any great distances today.
Sigh. Again.
It's not even a matter of "not fair" just, "sigh" and "I've had enough of this".
For that I am thankful.
Hubby is home and without a lot of [paid] work to be done.
For that I am thankful.
The Jeep however, is not healthy and needs [to be paid for] work to be done.
I am not thankful and not the least bit happy.
Sigh.
We thankfully have a mechanic close by who can squeeze us in tomorrow afternoon. I stopped in, with Lauren in tow, and one of our two guys came out, had a listen, took the jeep for a little spin and said.... "Mmm. can you bring it in tomorrow?" and nixed any plans we had to go any great distances today.
Sigh. Again.
It's not even a matter of "not fair" just, "sigh" and "I've had enough of this".
Friday, December 16, 2011
Endocrinology Update
We were back at Mac today for our semi-annual endo check up. As usual, we started with a resident. As NOT usual, I didn't have to give the FULL educational version AND I didn't go through every detail about Lauren. When there was a question I knew was in Lauren's file, I glossed over it and said, "but that's all in her file...". I also didn't ask the resident the questions I had for the endocrinologist. Why go through it twice?
Lauren is "officially" 88 cm tall (34.6 in) and 14.7 kg (32.4 lbs). At our appointment in June she was 84 cm and 14.1 kg. Slow growing our girl is.
She maintains the same growth curve she's been on for the past 18 months (25% on the NS chart and well off the standard charts) and will currently top out at 4' 8". Our mean parental height suggests she would be 5' 5" if she didn't have Noonan Syndrome so the topic of growth hormone therapy came up. Again. 9" is a big difference.
We've agreed we need to do the growth hormone stimulus test before we can make any firm decisions. We'll also need to discuss the matter with our cardiologist when we see her in March. We'll have our next endo appointment in June and schedule the stimulus test then.
Our primary concern regarding growth hormone therapy is the risk to Lauren's heart. The endocrinologist reaffirmed that in her practice, in all cases, no matter the genetic condition, they've had no problems with respect to heart muscle growth. Because Lauren is at higher risk of hypertrophic cardiomypathy with her RAF1 mutation, the cardiologist's opinion on the matter will have a lot more weight.
One thing the endo did say, which she hasn't often for us, is that "there's no rush".
A helpful thing that's come of Lauren sticking to that particular growth curve, is that we can predict how tall she'll be when she starts school in September. We'll be able to put her size in relation to other children her age. This in turn will help us get the accommodations she needs.
One more thing to check off my "registering for school" list.
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| Lauren and Mama, filling the time, playing with Mama's camera... |
Lauren is "officially" 88 cm tall (34.6 in) and 14.7 kg (32.4 lbs). At our appointment in June she was 84 cm and 14.1 kg. Slow growing our girl is.
She maintains the same growth curve she's been on for the past 18 months (25% on the NS chart and well off the standard charts) and will currently top out at 4' 8". Our mean parental height suggests she would be 5' 5" if she didn't have Noonan Syndrome so the topic of growth hormone therapy came up. Again. 9" is a big difference.
We've agreed we need to do the growth hormone stimulus test before we can make any firm decisions. We'll also need to discuss the matter with our cardiologist when we see her in March. We'll have our next endo appointment in June and schedule the stimulus test then.
Our primary concern regarding growth hormone therapy is the risk to Lauren's heart. The endocrinologist reaffirmed that in her practice, in all cases, no matter the genetic condition, they've had no problems with respect to heart muscle growth. Because Lauren is at higher risk of hypertrophic cardiomypathy with her RAF1 mutation, the cardiologist's opinion on the matter will have a lot more weight.
One thing the endo did say, which she hasn't often for us, is that "there's no rush".
A helpful thing that's come of Lauren sticking to that particular growth curve, is that we can predict how tall she'll be when she starts school in September. We'll be able to put her size in relation to other children her age. This in turn will help us get the accommodations she needs.
One more thing to check off my "registering for school" list.
Thursday, December 15, 2011
It's the carpet bomb of medicine!
The doctor prescribed Azithromycin for Roman. He had one - count them, ONE - dose late yesterday afternoon. This afternoon he hasn't stopped pestering Lauren.
None of this "meds for three days before you feel better" business. This stuff is so strong it's like we're carpet bombing every germ in his body.
Which works just fine for me. He hasn't eaten for days and already he's excited about (freezer!) pizza for supper.
Tomorrow it's off to school you go mister!
None of this "meds for three days before you feel better" business. This stuff is so strong it's like we're carpet bombing every germ in his body.
Which works just fine for me. He hasn't eaten for days and already he's excited about (freezer!) pizza for supper.
Tomorrow it's off to school you go mister!
Wednesday, December 14, 2011
Will it EVER end?
Seriously. If we need to see another doctor for a transient illness and get more medications before the end of this calendar year I think I might loose (what's left of) my mind.
Roman has been home from school all week. Okay. It's only Wednesday but to a mom who's used to some measure of freedom, being home with a sick boy and a not sick preschooler is not my idea of fun. He's been getting progressively worse leading to a trip to the doctor today.
He was actually doing reasonably well this morning until he had to walk from the car to the office, wait for 45 minutes and be generally aware for the whole time. He crashed when we got home and has yet to wake up.
Turns out he has...
Wait for it...
Strep.
Gee. Who would've suspected that? It could simply be tonsillitis but the doctor (we actually had to take him to hubby and my doctor because his pediatrician is away until Tuesday) took one look at him and, before doing any exam, said, "I think he has what you and hubby had..."
He asked Roman if his throat hurt generating a "yes" reply. In three days Roman has never said anything about a sore throat. Have a look inside his mouth and HUGE swollen tonsils.
I'd feel that lousy too especially with the high fever he's had and not eating anything.
Doc has prescribed some serious antibiotics to take care of the throat, the external ear infection we've been treating with drops and anything else that might be hanging on (we've been suspecting a sinus infection for a while now...)
Fingers crossed the doc's prediction that Roman will start feeling better in 24 hours comes true!
Roman has been home from school all week. Okay. It's only Wednesday but to a mom who's used to some measure of freedom, being home with a sick boy and a not sick preschooler is not my idea of fun. He's been getting progressively worse leading to a trip to the doctor today.
He was actually doing reasonably well this morning until he had to walk from the car to the office, wait for 45 minutes and be generally aware for the whole time. He crashed when we got home and has yet to wake up.
Turns out he has...
Wait for it...
Strep.
Gee. Who would've suspected that? It could simply be tonsillitis but the doctor (we actually had to take him to hubby and my doctor because his pediatrician is away until Tuesday) took one look at him and, before doing any exam, said, "I think he has what you and hubby had..."
He asked Roman if his throat hurt generating a "yes" reply. In three days Roman has never said anything about a sore throat. Have a look inside his mouth and HUGE swollen tonsils.
I'd feel that lousy too especially with the high fever he's had and not eating anything.
Doc has prescribed some serious antibiotics to take care of the throat, the external ear infection we've been treating with drops and anything else that might be hanging on (we've been suspecting a sinus infection for a while now...)
Fingers crossed the doc's prediction that Roman will start feeling better in 24 hours comes true!
Sunday, December 11, 2011
KidsAbility President's Reception
Friday was an exceptionally busy day for Lauren. As an Ambassador for KidsAbility, we were invited to attend the President's Reception to honour large donors from the past year.
As our deal stipulated (Lauren's and mine that is) she had a new dress for the event. It's also her Christmas dress so we've had to lay down the law about when she gets to wear it again.
It was a long afternoon for her with a lot of sitting "still", but she did her jobs beautifully - first handing out candy canes to everyone attending, then handing out thank you gifts at the end of the event.
She looked adorable and was the best dressed one there... the funniest part? Her name tag wouldn't stay stuck on her velvet bolero jacket. The biggest patch of dress I could find without velvet detail was on her butt...
As our deal stipulated (Lauren's and mine that is) she had a new dress for the event. It's also her Christmas dress so we've had to lay down the law about when she gets to wear it again.
It was a long afternoon for her with a lot of sitting "still", but she did her jobs beautifully - first handing out candy canes to everyone attending, then handing out thank you gifts at the end of the event.
She looked adorable and was the best dressed one there... the funniest part? Her name tag wouldn't stay stuck on her velvet bolero jacket. The biggest patch of dress I could find without velvet detail was on her butt...
Thursday, December 8, 2011
About Ducks - Puddle and Birthday
About Puddle Ducks
Lauren LOVES puddles - big, little, whatever. If they're there, she'll find them. She loves her yellow rubber boots even though they're at least one size too big. Even more, she loves her rainbow umbrella. If there's even a hint of rain, "Need my umbrella Mama!".
She is my puddle duck.
About Birthday Ducks
Tomorrow is Roman's 6th birthday. Hard to believe sometimes. And looking outside with just a trace of snow remaining, it's hard to believe there were 4 inches and more on the way the night / day he was born.
For his birthday, I let him choose what cupcakes he wanted from the cupcake books ("Hello Cupcake" and "What's New Cupcake"). He picked these yummy puppies... or, more appropriately, duckies...
There are 20 of them going to school tomorrow for his Grade One class... four of them are bottoms up... They really were easy to make though the last two look a bit rough. The icing was getting thick again and there wasn't enough left to dip properly. Thankfully they're all 6 and are (hopefully) too excited about cupcakes to be critical.
Lauren LOVES puddles - big, little, whatever. If they're there, she'll find them. She loves her yellow rubber boots even though they're at least one size too big. Even more, she loves her rainbow umbrella. If there's even a hint of rain, "Need my umbrella Mama!".
She is my puddle duck.
About Birthday Ducks
Tomorrow is Roman's 6th birthday. Hard to believe sometimes. And looking outside with just a trace of snow remaining, it's hard to believe there were 4 inches and more on the way the night / day he was born.
For his birthday, I let him choose what cupcakes he wanted from the cupcake books ("Hello Cupcake" and "What's New Cupcake"). He picked these yummy puppies... or, more appropriately, duckies...
There are 20 of them going to school tomorrow for his Grade One class... four of them are bottoms up... They really were easy to make though the last two look a bit rough. The icing was getting thick again and there wasn't enough left to dip properly. Thankfully they're all 6 and are (hopefully) too excited about cupcakes to be critical.
Follow the Star
This past weekend signaled the start of Christmas. Roman and Lauren both performed in the church Christmas pagent. Lauren "sang" Bells are Ringing with the other preschool kids and did remarkably well considering it was past her bedtime.
Roman was a shepherd in Follow the Star which is a cute, short musical. It was really well done. All the kids were amazing and they actually did pretty well with a lot of complex lyrics.
Sunday we put up the tree. Because Roman's birthday is coming up, we gave him the choice: the tree could go up on Sunday or wait until after his birthday. He's not old enough yet to feel like his birthday gets overshadowed by Christmas so was happy to have the tree to decorate.
Next Lauren decided it would be really fun to ride on Roman's back. And he thought it was the most fun ever...
Lauren would climb on then Roman would do his best to dump her off. They tried it the other way once but as expected, Roman is way too big for Lauren to dump. There was a lot of joyful giggling while Mama and Papa watched, glasses of wine in hand.
A wonderful start to the season. A light dusting of snow, some busy days ahead and we're slowly getting into the spirit of the season.
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| Lauren, in her "party dress" happily ringing her bells. |
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| I forget just how tiny she is sometimes... and adorable |
Roman was a shepherd in Follow the Star which is a cute, short musical. It was really well done. All the kids were amazing and they actually did pretty well with a lot of complex lyrics.
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| In costume without a single complaint. My how he's grown up! |
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| Surrounded by angels and our friend Izzy nearby |
Sunday we put up the tree. Because Roman's birthday is coming up, we gave him the choice: the tree could go up on Sunday or wait until after his birthday. He's not old enough yet to feel like his birthday gets overshadowed by Christmas so was happy to have the tree to decorate.
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| Oh the fights over that silly hat... |
Next Lauren decided it would be really fun to ride on Roman's back. And he thought it was the most fun ever...
Lauren would climb on then Roman would do his best to dump her off. They tried it the other way once but as expected, Roman is way too big for Lauren to dump. There was a lot of joyful giggling while Mama and Papa watched, glasses of wine in hand.
A wonderful start to the season. A light dusting of snow, some busy days ahead and we're slowly getting into the spirit of the season.
Wednesday, December 7, 2011
Toxic Shock Follow-Up Appointment
It seems my diagnosis was more art than science. I had my follow-up appointment with the ER doctor today. He was happy to see I was feeling better - which I am - and quite happy to answer questions.
First off I asked (given the stats and all), "So... it was Toxic Shock?"
His response (and here's the art vs science part), "That's what we're goin' with"
Nice. "Goin' with"? Seriously? I guess if the symptoms fit they've got to call it something.
They also found e-coli bacteria but e-coli wouldn't cause the rash. It does however create a bio-toxin so could have been the infection source that led to TSS. Not sure the stats on that one...
Nutshell? They just don't know. In his words, "You were sick, now you're better. It's a good outcome."
I'm not an any significant risk of recurrence and at my age (as he so eloquently put it) I've been exposed to so many things already, it's unlikely I'll get something like this again. That said, if strep shows up in our household in the future, we need to be proactive and treat the whole family.
There we have it. I was sick, now I'm better. All good. And I am, for the most part, back to normal. This past weekend seemed to be a turning point. I still get tired but I'm not desperate for a nap. The more time passes, the more normal I feel. I still get the shakes sometimes - like I've had too much coffee but the doctor didn't have any answers. He cautioned that I should give it a few months then follow up with my family doctor if it's still a problem.
I didn't get the closure I was hoping for but with that appointment out of the way, life will just have to carry on.
First off I asked (given the stats and all), "So... it was Toxic Shock?"
His response (and here's the art vs science part), "That's what we're goin' with"
Nice. "Goin' with"? Seriously? I guess if the symptoms fit they've got to call it something.
They also found e-coli bacteria but e-coli wouldn't cause the rash. It does however create a bio-toxin so could have been the infection source that led to TSS. Not sure the stats on that one...
Nutshell? They just don't know. In his words, "You were sick, now you're better. It's a good outcome."
I'm not an any significant risk of recurrence and at my age (as he so eloquently put it) I've been exposed to so many things already, it's unlikely I'll get something like this again. That said, if strep shows up in our household in the future, we need to be proactive and treat the whole family.
There we have it. I was sick, now I'm better. All good. And I am, for the most part, back to normal. This past weekend seemed to be a turning point. I still get tired but I'm not desperate for a nap. The more time passes, the more normal I feel. I still get the shakes sometimes - like I've had too much coffee but the doctor didn't have any answers. He cautioned that I should give it a few months then follow up with my family doctor if it's still a problem.
I didn't get the closure I was hoping for but with that appointment out of the way, life will just have to carry on.
Thursday, December 1, 2011
You're One in a Million Ba-by!
Everyone wants to be special, to have that "one in a million" feeling. I'd be happy to trade it in for a winning lottery ticket.
Having had Toxic Shock Syndrome (and hopefully the world will forgive me dwelling on it a while) I've now done my due diligence in online research. Primarily I've been trying to find information about how long it takes to recover. After a week in hospital and now almost two at home, I still feel tired, easily worn out and often down right cranky.
In my research, I found that the incidence of TSS experienced by women because of tampon use is 1 in 100,000. Infrequent considering my daughter's genetic condition is considered rare and it's 1 in 2,500.
Imagine then my surprise to find that TSS caused by Group A Strep (referred to as GAS), which is what I was diagnosed with, is estimated to have a rate 1.2 to 7.3 per million individuals.
The same article was the first I found to outline the recovery time as being 2 to 3 weeks but also listed mortality rates for GAS as significantly high: up to 30% to 70% of cases.
So not only am I one in a million, I'm a very lucky one in a million.
This *should* then make me extremely happy, relieved, joyful, insert adjective here, but I find I'm actually quite a bit - and forgive the technical term here - "weirded out" about the whole thing. No tangible reason why, no logical reason why, just am. It's not a factor of what I could've lost or anything similar even. When I was sick I was just sick. It wasn't anything crazy or overwhelming, it just was. I was there, I was treated, I got better - sort of.
I suppose it's the recovery period that's getting to me. I expect to be sick, get better and get back to everything that needs to be done without residual symptoms - just like normal run of the mill illness. But it wasn't run of the mill and I think I`m having some difficulty accepting that.
I have a follow up appointment with the ER doctor next week so hopefully he'll shed some light on why I was the one in a million, whether it truly was Toxic Shock and whether I now have the necessary antibodies to manage strep in the future and whether the TSS can reappear without strep as a trigger.
Hopefully having some answers will give me peace of mind.
Having had Toxic Shock Syndrome (and hopefully the world will forgive me dwelling on it a while) I've now done my due diligence in online research. Primarily I've been trying to find information about how long it takes to recover. After a week in hospital and now almost two at home, I still feel tired, easily worn out and often down right cranky.
In my research, I found that the incidence of TSS experienced by women because of tampon use is 1 in 100,000. Infrequent considering my daughter's genetic condition is considered rare and it's 1 in 2,500.
Imagine then my surprise to find that TSS caused by Group A Strep (referred to as GAS), which is what I was diagnosed with, is estimated to have a rate 1.2 to 7.3 per million individuals.
The same article was the first I found to outline the recovery time as being 2 to 3 weeks but also listed mortality rates for GAS as significantly high: up to 30% to 70% of cases.
So not only am I one in a million, I'm a very lucky one in a million.
This *should* then make me extremely happy, relieved, joyful, insert adjective here, but I find I'm actually quite a bit - and forgive the technical term here - "weirded out" about the whole thing. No tangible reason why, no logical reason why, just am. It's not a factor of what I could've lost or anything similar even. When I was sick I was just sick. It wasn't anything crazy or overwhelming, it just was. I was there, I was treated, I got better - sort of.
I suppose it's the recovery period that's getting to me. I expect to be sick, get better and get back to everything that needs to be done without residual symptoms - just like normal run of the mill illness. But it wasn't run of the mill and I think I`m having some difficulty accepting that.
I have a follow up appointment with the ER doctor next week so hopefully he'll shed some light on why I was the one in a million, whether it truly was Toxic Shock and whether I now have the necessary antibodies to manage strep in the future and whether the TSS can reappear without strep as a trigger.
Hopefully having some answers will give me peace of mind.
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