Seeing an endocrinologist already was, for us, for informational purposes only. The geneticist had informed us that Lauren would have growth issues but that treatment wouldn't be for years. In case you haven't figured this out about me yet, I like to have my ducks in a row well in advance. So we book and attend the appointment.
Our arrival was uneventful. We registered with the clinic and chose to wait in the hallway lounge. At Mac there's a clinic called 2Q which facilitates a number of different doctors and makes it really easy for patients like us to find where they're supposed to be. The waiting rooms though are a bit dismal despite the decorations, toys and TV set to Treehouse.
It's simply a matter of congestion, noise and, well, waiting-room-ness. Outside 2Q there are pleather love seats and chairs. Perfectly sized for two parents and an infant. Comfortable and private enough for breastfeeding while placed along a main thoroughfare of the hospital. Lots of people to watch and plenty of 'fresh' air.
We settle down in to play with Lauren and within 15 minutes the doctor herself comes out to get us. That's a nice touch.
In we go to an office in the deepest recesses of the clinic.
Dr. M. right away measured and weighed Lauren (64.7 cm, 8.55 kg). 'Great!' I think. 'This rocks! We might actually be out of here in time for Lauren to have her nap in the car on the way home.' which had been my hope all along. It would keep her nighttime schedule on track despite a day on the road.
Off goes Dr. M, us with the impression that she would be right back because let's be realistic here. The actual doctor we are scheduled to see did something the juniors usually do. She was 'right there'! Isn't that supposed to be a good sign our appointment has actually started and we're well underway?
Alas. We were wrong.
Most of the posters and literature in the office were about Juvenile Diabetes. After nearly an hour of waiting, at least I learned something. Finally Dr. M's resident arrives to complete the usual series of questions: How many weeks was she? Was it a vaginal or ceasarian delivery? Were any interventions necessary? Did she spend time in NICU? and so on. Sometimes I really wish they'd share files instead of recreating it every time. It would save everyone a reasonable amount of time and I wouldn't have to yet again repeat the entire story.
However, the poor gal needs to do her job.
We then get to ask our questions: We know she's going to be short. What makes this happen? What is going on?
What are the affects on puberty?
What are her options?
When would therapy start?
What if we don't do anything at all?
Are there any side effects?
How long is the therapy?
Do we have to go through Mac or can we have the treatments locally?
Since Lauren's gene change is novel, how do we know it's actually going to affect her height? What if we do treatment and it's not necessary?
Are there any impending advancements in the field? How can we follow what's happening?
The resident did pretty well answering what she could then went to consult the doctor. A reasonable amount of time later, they both return. Seems Dr. M figured we'd be there long enough already and that playing the 'I'll consult and be right back game' was going to get old. Plus I think she simply wanted to answer the questions directly. Apparently some of them were really good questions.
And so here we go:
We know she's going to be short. What makes this happen? What is going on?
With Noonan Syndrome, it's a matter of hormone levels or usage. In some cases, the pituitary gland isn't producing growth hormone or not enough. In some cases, it's producing the hormone but the body doesn't use it properly or effectively.
What are the affects on puberty?
In most Noonan cases, puberty is delayed by up to a couple years. It's unrelated to growth though so if she hits 13 years of age without starting puberty, different intervention will be necessary.
What are her options?
Hormone therapy or no hormone therapy. Pretty straight forward.
When would therapy start?
As soon as Lauren's growth progress starts to fall below the standard chart. Growth with Noonan Syndrome usually follows the 3rd percentile so if Lauren starts to be below that line, which is already really low, it's time to start. Usually they see this around 5 years of age.
What if we don't do anything at all?
She grows as much as she grows and that's it. With one caveat. If the pituitary gland is not producing growth hormone at all, there are wider reaching complications to things like her heart and cognitive development. She would then be classified as 'hormone deficient'. This is important as you'll soon see.
Are there any side effects?
None known. That's nice.
How long is the therapy?
Until she's through puberty and growth slows even with therapy.
Do we have to go through Mac or can we have the treatments locally?
Unfortunately this is a McMaster only journey. When all the athlete doping topped, the government banned growth hormones and severely regulated what and when it could be used medically. They can only issue a few months at a time and we have to physically go to McMaster, see the doctor and get a new batch.
Since Lauren's gene change is novel, how do we know it's actually going to affect her height? What if we do treatment and it's not necessary?
For this one, we'll see if she falls below the chart or not. If she doesn't fall off the chart then she won't get treatment and there's no risk.
Are there any impending advancements in the field? How can we follow what's happening?
There's nothing pending in this field. What they've got they've had for years and there's been no change and they're not anticipating anything. Joy.
And here's more critical information we gathered:
Treatment is a daily injection, 6 days a week.
Now we get into the issues of cost:
Is treatment covered under the provincial health plan? No.
How about federal? Not really.. except if she's hormone deficient. If she's deficient, then it is covered. This is because the treatment is considered to be 'off label'. The hormones are approved for use (on label) in Canada for five things - deficiency and Turner's being two of them. Noonan's is not on the list. Go figure.
If we don't have private health care or they decline to cover the treatments - make sure you're sitting down now - the average cost is $10,000 per year. Per year! When she starts, it'll be $5 - 7,000. As she grows, the amount of hormone needed will increase as well as will the associated cost. By the time she's 13, it could be as much at $25,000 per year.
Oye. What more can I say?
The one light, if we can only afford to do a few years of treatment, there is precedent that a few years could give her a bit more height. There's also potential that once she's in treatment, the pharmaceutical company may help pick up the tab on compassionate grounds.
Phew. The whole appointment was exhausting with information overload. Writing this entry gives the same feeling of overload.
Regardless, we will be seeing Dr. M every 6 months for the foreseeable future. Guess this was more than an exercise in duck alignment after all.
Wednesday, January 28, 2009
Monday, January 26, 2009
In Search of Perfection
or "Damn you Scott Thornley!"
As I was running Google searches last night, I realized an inconsistency in how Noonan Syndrome is written. Is it Noonan's Syndrome with the apostrophe+s or Noonan Syndrome without?
All my blogging and written notes have the apostrophe+s but doing a search with it often prompted "Did you mean Noonan Syndrome?" sans 's'.
I went on a hunt. First through search engines only to find continued inconsistency.
The Mayo Clinic though omits the "s"... Hmm. I should think they'd be particular about accuracy...
Finally I checked the documentation we received from the DNA lab and the geneticist.
No 's'.
Being slightly obsessive about accuracy and, having had it drilled into me while working for Scott at the ad agency (hence the entry title...) I decided to correct the titles in my blog. I didn't change anything within my blog entries though. They're my thoughts and they're historical reference for me.
Going forward, I have to respect my (and Scott's) exacting standards. No more apostrophe+s...
unless, of course, Mom-nesia kicks in and I forget once again.
All my blogging and written notes have the apostrophe+s but doing a search with it often prompted "Did you mean Noonan Syndrome?" sans 's'.
I went on a hunt. First through search engines only to find continued inconsistency.
The Mayo Clinic though omits the "s"... Hmm. I should think they'd be particular about accuracy...
Finally I checked the documentation we received from the DNA lab and the geneticist.
No 's'.
Being slightly obsessive about accuracy and, having had it drilled into me while working for Scott at the ad agency (hence the entry title...) I decided to correct the titles in my blog. I didn't change anything within my blog entries though. They're my thoughts and they're historical reference for me.
Going forward, I have to respect my (and Scott's) exacting standards. No more apostrophe+s...
unless, of course, Mom-nesia kicks in and I forget once again.
Sunday, January 25, 2009
What-if-What-about-Should-I???
I've restarted this entry three times. It's a difficult one for me to write. This has been a tough week emotionally. A while ago I made a conscious decision to be positive, upbeat and energetic for my children. I had noticed that Roman wasn't laughing as much and that Lauren barely laughed at all. I knew that my attitude and exhaustion at that point was influential in this. Having made the decision, things got better for all of us.
This week though it's been hard to keep it up. I want to see Lauren as just Lauren but little things make Noonan's Syndrome pop back into my consciousness. The calendar for example. Even when it's full of fun adventures and coffee gatherings (aka play-dates) there are still the doctor appointments, specialists, follow ups, call so-and-so reminders.
When I sort through digital photos searching for new ones to share, there are some that, caught at the wrong moment, capture the characteristics of NS in a glaring light removing all joy of the moment meant to be remembered.
In the paper there was a listing of the local high schools and the specialized trades courses offered. One has classes in agriculture. I looked at Lauren and said, "Maybe you'll love gardening like Mama...". Why should I assume she'll avoid university? My comment was not based on her acquiring a love of agriculture but rather one of 'finding you a career that doesn't involve significant post secondary education beyond a community college'.
I don't do that to Roman. With Roman, his future, in conversation, doesn't extend past what's for dinner or when his next potty break will be. It's a wide open book so gets no preconception.
Lauren's future though, being so unknown, somehow absorbs so much more of my waking thoughts.
I find myself second guessing what we as parents will/could/should do. Or more specifically, what I should do. Often I would like to have a third child but yesterday questioned whether I should be looking at getting back to work, finding a job with a good benefits package that will cover hormone therapy or, at the very least, a job that will earn us enough to cover the cost of hormone therapy (more on this when I get to the endocrinologist entry). I started calculating what age each child would be, what grade they'd be in at school and how many hours a week I could reasonably manage while still being home when they leave in the morning and again when they get home.
And that third child? What if they end up with Noonan's too? Or something worse? Is it fair to Roman and Lauren to take that risk?
Is it fair to any of us to not?
Rationally, I know things will work out as they should and I know everything I'm expressing here is 'normal' for the situation. It is however a bit overwhelming that answers aren't readily available. I can't just look it up somewhere. We won't know or be able do anything until time passes and It, whatever It is, actually happens.
This week though it's been hard to keep it up. I want to see Lauren as just Lauren but little things make Noonan's Syndrome pop back into my consciousness. The calendar for example. Even when it's full of fun adventures and coffee gatherings (aka play-dates) there are still the doctor appointments, specialists, follow ups, call so-and-so reminders.
When I sort through digital photos searching for new ones to share, there are some that, caught at the wrong moment, capture the characteristics of NS in a glaring light removing all joy of the moment meant to be remembered.
In the paper there was a listing of the local high schools and the specialized trades courses offered. One has classes in agriculture. I looked at Lauren and said, "Maybe you'll love gardening like Mama...". Why should I assume she'll avoid university? My comment was not based on her acquiring a love of agriculture but rather one of 'finding you a career that doesn't involve significant post secondary education beyond a community college'.
I don't do that to Roman. With Roman, his future, in conversation, doesn't extend past what's for dinner or when his next potty break will be. It's a wide open book so gets no preconception.
Lauren's future though, being so unknown, somehow absorbs so much more of my waking thoughts.
I find myself second guessing what we as parents will/could/should do. Or more specifically, what I should do. Often I would like to have a third child but yesterday questioned whether I should be looking at getting back to work, finding a job with a good benefits package that will cover hormone therapy or, at the very least, a job that will earn us enough to cover the cost of hormone therapy (more on this when I get to the endocrinologist entry). I started calculating what age each child would be, what grade they'd be in at school and how many hours a week I could reasonably manage while still being home when they leave in the morning and again when they get home.
And that third child? What if they end up with Noonan's too? Or something worse? Is it fair to Roman and Lauren to take that risk?
Is it fair to any of us to not?
Rationally, I know things will work out as they should and I know everything I'm expressing here is 'normal' for the situation. It is however a bit overwhelming that answers aren't readily available. I can't just look it up somewhere. We won't know or be able do anything until time passes and It, whatever It is, actually happens.
Saturday, January 24, 2009
October 28, 2008 - Spinal Ultrasound Revisited (R)
For those of you following the blog from the start, the (R) in the title is to designate this one as a rerun. I wanted to put it into story order so here is the blog entry in its entirety:
---
Skipping ahead to now, yesterday (October 28) was yet another test for Lauren. This time an ultrasound of her spine. Technically, this one was unrelated to her Noonan's Syndrome but connected none the less. No Noonan's, no geneticist. It was the geneticist who determined that her anus was a smidgeon out of 'normal' position and referred Lauren to a pediatric surgeon for further examination. When Dr. Mark saw her in the summer (which we'll get to in the history portion of this blog eventually) he stated that nothing was dramatically out of place but since there can be a correlation between anus issues and spinal issues, he wanted Lauren to have an ultrasound of her spine - just to make sure.
We asked, if Lauren had not been under near microscopic examination for her Noonan's, would we even be seeing him, he admitted it wasn't likely. However, like Pandora's Box, what is out now needs to be dealt with.
Bring on the ultrasound.
By the way, I get really antsy and edgy before any of Lauren's appointments - the subconscious, "what are they going to find this time?" "How bad is it going to be now?" "What else are we now going to have to deal with?" and occasionally, "Why me?" "Why Lauren?" "Are we going to get through this?" The last three are of course rhetorical but they creep up often.
It took me a while to figure out that my days of bitchy-ness were related to Lauren's appointments - usually a day or two before. This time was no different. I wonder if other parents in our position go through the same thing??
Returning to our tale, we arrived at McMaster for our 2:30 appointment. Everything goes smoothly enough with Lauren showing her temper, pissed at us for not letting her roll over, only to determine that she is too old for this particular test. They could see other things but not whether her spinal cord was tethered. Joy. The only way to tell at her age is through MRI. Double Joy.
Also scheduled for this day, quite logically and appreciably, is an appointment with the surgeon to review the results and options. Given that there were no results, there's not much to talk about. Since all her internal digestive systems are working properly and she's certainly healthy enough, it is his opinion that she is fine and that the first step would be to manage her diet if constipation issues arise. He was not going to request an MRI thank goodness. Could you image the restraints needed to keep an 8 month old from moving?
Now, here's the kick to the head, because there's always a kick in the head. This second appointment was scheduled for 3:15. Why is this a kick in the head? because we didn't actually see Dr. Mark until after 5pm.
Total return driving time: 1 hour, 45 minutes
Cost of parking: $15.75
Inconclusive ultrasound: 20 minutes
Consultation with dr: 5 minutes
Spending 3 hours at a hospital to not learn anything new: Priceless
---
Skipping ahead to now, yesterday (October 28) was yet another test for Lauren. This time an ultrasound of her spine. Technically, this one was unrelated to her Noonan's Syndrome but connected none the less. No Noonan's, no geneticist. It was the geneticist who determined that her anus was a smidgeon out of 'normal' position and referred Lauren to a pediatric surgeon for further examination. When Dr. Mark saw her in the summer (which we'll get to in the history portion of this blog eventually) he stated that nothing was dramatically out of place but since there can be a correlation between anus issues and spinal issues, he wanted Lauren to have an ultrasound of her spine - just to make sure.
We asked, if Lauren had not been under near microscopic examination for her Noonan's, would we even be seeing him, he admitted it wasn't likely. However, like Pandora's Box, what is out now needs to be dealt with.
Bring on the ultrasound.
By the way, I get really antsy and edgy before any of Lauren's appointments - the subconscious, "what are they going to find this time?" "How bad is it going to be now?" "What else are we now going to have to deal with?" and occasionally, "Why me?" "Why Lauren?" "Are we going to get through this?" The last three are of course rhetorical but they creep up often.
It took me a while to figure out that my days of bitchy-ness were related to Lauren's appointments - usually a day or two before. This time was no different. I wonder if other parents in our position go through the same thing??
Returning to our tale, we arrived at McMaster for our 2:30 appointment. Everything goes smoothly enough with Lauren showing her temper, pissed at us for not letting her roll over, only to determine that she is too old for this particular test. They could see other things but not whether her spinal cord was tethered. Joy. The only way to tell at her age is through MRI. Double Joy.
Also scheduled for this day, quite logically and appreciably, is an appointment with the surgeon to review the results and options. Given that there were no results, there's not much to talk about. Since all her internal digestive systems are working properly and she's certainly healthy enough, it is his opinion that she is fine and that the first step would be to manage her diet if constipation issues arise. He was not going to request an MRI thank goodness. Could you image the restraints needed to keep an 8 month old from moving?
Now, here's the kick to the head, because there's always a kick in the head. This second appointment was scheduled for 3:15. Why is this a kick in the head? because we didn't actually see Dr. Mark until after 5pm.
Total return driving time: 1 hour, 45 minutes
Cost of parking: $15.75
Inconclusive ultrasound: 20 minutes
Consultation with dr: 5 minutes
Spending 3 hours at a hospital to not learn anything new: Priceless
Sunday, January 18, 2009
Off the Beaten Track
Our entries to date have been about appointments, driving here-there-and-everywhere, what specialists we've seen and so on. What I have yet to share is what it's like to live with Lauren and 'Lauren with Noonan's Syndrome'.
It's wonderful and horrible. It's amazing and amazingly trying.
I wonder, almost daily, what elements of her personality and development are just Lauren, what is from being the second child and what is a factor of Noonan's Syndrome. I don't always see theNS now when I look at her but rather notice when I do. When I see the symptoms instead of her, It's like a cold fog settling over me.
Developmentally, at 11 months, she sits very well. Lauren can now pivot herself around in place, doing about 90° with each turn. She skooches when you're not looking moving a few inches at a time until she gets where she wants to be or reaches that toy she just has to have. If you help her up, she can stand while holding onto something and loves to stand at the side of the tub. It's just the right height and makes great noises when you thump it.
Lauren doesn't say much or often. When she does chatter, it's a joy to hear (though not so much at 2 in the morning...) Laughing comes in spurts and lights up her whole face. It's usually a subtle little chuckle and you have to know her to know that it's a laugh. But we do. And it is. Lately she's been laughing more and with a bit more gusto especially at Roman's antics.
Physcially, from birth our daughter has been very gassy. Painfully so for her. At first it was all the time. Now it's reduced primarily to nighttime. She frequently wakes screaming with pain. Finally, when the gas passes, she drops back into well deserved sleep till the next batch hits. Now that she's teething, it's a double whammy.
In the early months, I altered my diet to eliminate dairy and caffeine in an attempt to ease her discomfot. Eventually I also dropped wheat. The omission of wheat made the most dramatic difference and I sometimes kick myself for not trying it sooner. Now that we've started weaning her (we're down to three feedings over 24 hours) she's generally doing even better. Our pediatrician assures me most children outgrow wheat sensitivities around one year of age. We'll see. I'm not holding my breath.
Food wise, Lauren was very slow to start solids. She was barely interested until almost 9 months which I attribute to her body knowing it wasn't ready. We're very limited in what she can enjoy without agony later - squash, sweet potatoes, carrots, apples, potatoes and cereals are essentially it. Avocado and bananas were on the list but she's taken a dislike to both. We've also had chicken, beef and fish but with mixed results. In general, meat is okay for breakfast but lunch or dinner gets into the danger zone of a gassy night. Broccoli she loves but definitely goes in the 'gas to pass' category.
Socially, she loves her big brother. She watches him carefully and you can see the adoration in her eyes. To Roman's credit, he's been a very good sibling. He shares quite well for a 3 year old and is getting better at asking Lauren for something instead of just taking it. He's also very protective. He knows she's not supposed to have paper (you can imagine what that's like in her diet!) and I'll hear him say, "No Lauren, you can't have paper" taking it away. He's also getting very good at comforting her. Sometimes when I leave the room she starts to fuss. Roman will say, "It's okay Lauren. Mama will be right back" or last week, "It's okay Lauren, I'm right here".
Often she is a 'mama-barnacle' not wanting to be with anyone but me but if she sees someone often enough, she's content to be in their arms so long as it's not for long. She's reached the age of separation anxiety so this doesn't surprise me much.
In the last day or so, Lauren has started to use sign language. Hooray! "More" and "Finished" are the two we've been focusing on and she's finally starting to apply them. Tonight I gave her a few pieces of squash then walked away from the table. I paused to help Roman, and when I looked her way, they were gone. She was looking at me signing "more! more! more!" It was beautiful. Just like her.
I'm hoping that over time, 'Lauren with Noonan's Syndrome' will fade to nearly nothing leaving only "Living with Lauren".
I'm proud of her, scared for her but overall, madly in love with my babydoll.
It's wonderful and horrible. It's amazing and amazingly trying.
I wonder, almost daily, what elements of her personality and development are just Lauren, what is from being the second child and what is a factor of Noonan's Syndrome. I don't always see theNS now when I look at her but rather notice when I do. When I see the symptoms instead of her, It's like a cold fog settling over me.
Developmentally, at 11 months, she sits very well. Lauren can now pivot herself around in place, doing about 90° with each turn. She skooches when you're not looking moving a few inches at a time until she gets where she wants to be or reaches that toy she just has to have. If you help her up, she can stand while holding onto something and loves to stand at the side of the tub. It's just the right height and makes great noises when you thump it.
Lauren doesn't say much or often. When she does chatter, it's a joy to hear (though not so much at 2 in the morning...) Laughing comes in spurts and lights up her whole face. It's usually a subtle little chuckle and you have to know her to know that it's a laugh. But we do. And it is. Lately she's been laughing more and with a bit more gusto especially at Roman's antics.Physcially, from birth our daughter has been very gassy. Painfully so for her. At first it was all the time. Now it's reduced primarily to nighttime. She frequently wakes screaming with pain. Finally, when the gas passes, she drops back into well deserved sleep till the next batch hits. Now that she's teething, it's a double whammy.
In the early months, I altered my diet to eliminate dairy and caffeine in an attempt to ease her discomfot. Eventually I also dropped wheat. The omission of wheat made the most dramatic difference and I sometimes kick myself for not trying it sooner. Now that we've started weaning her (we're down to three feedings over 24 hours) she's generally doing even better. Our pediatrician assures me most children outgrow wheat sensitivities around one year of age. We'll see. I'm not holding my breath.
Food wise, Lauren was very slow to start solids. She was barely interested until almost 9 months which I attribute to her body knowing it wasn't ready. We're very limited in what she can enjoy without agony later - squash, sweet potatoes, carrots, apples, potatoes and cereals are essentially it. Avocado and bananas were on the list but she's taken a dislike to both. We've also had chicken, beef and fish but with mixed results. In general, meat is okay for breakfast but lunch or dinner gets into the danger zone of a gassy night. Broccoli she loves but definitely goes in the 'gas to pass' category.
Socially, she loves her big brother. She watches him carefully and you can see the adoration in her eyes. To Roman's credit, he's been a very good sibling. He shares quite well for a 3 year old and is getting better at asking Lauren for something instead of just taking it. He's also very protective. He knows she's not supposed to have paper (you can imagine what that's like in her diet!) and I'll hear him say, "No Lauren, you can't have paper" taking it away. He's also getting very good at comforting her. Sometimes when I leave the room she starts to fuss. Roman will say, "It's okay Lauren. Mama will be right back" or last week, "It's okay Lauren, I'm right here".
Often she is a 'mama-barnacle' not wanting to be with anyone but me but if she sees someone often enough, she's content to be in their arms so long as it's not for long. She's reached the age of separation anxiety so this doesn't surprise me much.
In the last day or so, Lauren has started to use sign language. Hooray! "More" and "Finished" are the two we've been focusing on and she's finally starting to apply them. Tonight I gave her a few pieces of squash then walked away from the table. I paused to help Roman, and when I looked her way, they were gone. She was looking at me signing "more! more! more!" It was beautiful. Just like her.
I'm hoping that over time, 'Lauren with Noonan's Syndrome' will fade to nearly nothing leaving only "Living with Lauren".
I'm proud of her, scared for her but overall, madly in love with my babydoll.
Wednesday, January 14, 2009
October 7, 2008 - Ophthalmologist, Take II
Our previous ophthalmologist appointment at Mac spoiled us. We were anticipating the same speedy system. Big brother Roman was along and hoping for a short appointment and a special treat after.
You can see it coming can't you.
The drive to Mac was fine. The weather was fine. All was fine.
Can you see now? The freight train rumbling down the tracks?
We arrived at the clinic.
Hello freight train. Or should we call you "wait train"?
We settle in.
Enter the super stinky kid. Strong enough to make you vomit.
Which is exactly what the kid had done in the car on the way there.
And we wait.
Aaaand wait.
Aaaaaand wait.
Finally they call us in.
To another waiting room.
With four other families.
and we wait.
Aaaand wait.
Aaaaaand wait.
One small blessing. At least stinky kid isn't with us.
Poor Roman. We have puzzles to do but there's only so many times you can do them. We have granola bars and pop to drink (I'm sure the other parents were aghast. Look at that woman letting her kid drink coke!) but eventually he looks up at me and quietly says, "I want to go home now."
Sigh. "Sorry Sweetie. Lauren still needs to see the doctor."
"But I want to go home now." No whining. Just matter of fact. Calm, quiet, a little sad.
Thankfully we finally get called into the exam room and an assistant takes down Lauren's details.
And we wait. Again. But nearly so long.
Here's the kicker.
The doctor comes in. Asks a few simple questions, "Yes. Noonan's Syndrome. No, not hereditary. No. No other genetic anomalies known in the family. Yes. Glaucoma..." then turns out the light, looks a Lauren's eyes through some lenses then calmly announces, "Everything looks fine. We'll see you again in six months."
WHAT? That's it?
All that waiting for TWO MINUTES??
Well at least everything is fine AND we didn't have to wait for test results or call back in a week or "I'll send the report to your pediatrician..."
We book the next appointment just in case but decide this is one service that we definitely need to have local.
Call it 'reducing our carbon footprint' if you want but really it's me avoiding a train wreck.
You can see it coming can't you.
The drive to Mac was fine. The weather was fine. All was fine.
Can you see now? The freight train rumbling down the tracks?
We arrived at the clinic.
Hello freight train. Or should we call you "wait train"?
We settle in.
Enter the super stinky kid. Strong enough to make you vomit.
Which is exactly what the kid had done in the car on the way there.
And we wait.
Aaaand wait.
Aaaaaand wait.
Finally they call us in.
To another waiting room.
With four other families.
and we wait.
Aaaand wait.
Aaaaaand wait.
One small blessing. At least stinky kid isn't with us.
Poor Roman. We have puzzles to do but there's only so many times you can do them. We have granola bars and pop to drink (I'm sure the other parents were aghast. Look at that woman letting her kid drink coke!) but eventually he looks up at me and quietly says, "I want to go home now."
Sigh. "Sorry Sweetie. Lauren still needs to see the doctor."
"But I want to go home now." No whining. Just matter of fact. Calm, quiet, a little sad.
Thankfully we finally get called into the exam room and an assistant takes down Lauren's details.
And we wait. Again. But nearly so long.
Here's the kicker.
The doctor comes in. Asks a few simple questions, "Yes. Noonan's Syndrome. No, not hereditary. No. No other genetic anomalies known in the family. Yes. Glaucoma..." then turns out the light, looks a Lauren's eyes through some lenses then calmly announces, "Everything looks fine. We'll see you again in six months."
WHAT? That's it?
All that waiting for TWO MINUTES??
Well at least everything is fine AND we didn't have to wait for test results or call back in a week or "I'll send the report to your pediatrician..."
We book the next appointment just in case but decide this is one service that we definitely need to have local.
Call it 'reducing our carbon footprint' if you want but really it's me avoiding a train wreck.
Friday, January 9, 2009
September 19, 2008 - The Ophthalmologist
One of the physical features many people with Noonan's Syndrome have is more widely spaced eyes. According to the geneticist, Lauren's eyes are slightly wider apart than they should be and thus she needs to see an ophthalmologist. Her left eye lid is also a bit droopy. It gives the illusion of her left eye being lower than her right which is also something to see the doctor about.
With her eye spacing different that it should be, the function of her eyes is the concern. If they're not triangulating properly, the brain starts to disregard the message from one eye in order to see better. Over time the brain stops 'caring' about the signal from that eye causing the eye to turn toward the nose or get 'lazy'.
Note to self. Fridays at the Mac eye clinic are quiet. Eerily quiet.
We arrive in the clinic for our late morning appointment to find the office empty. No patients and no staff in sight. After a few minutes a woman appears from within the exam rooms who is going to check the physical placement and movement of Lauren's eyes.
Turns out we aren't even going to see the ophthalmologist today (I says, "pardon?"). Historically, they would do everything the same appointment. Unfortunately, there is currently only one. Yes O-N-E. pediatric ophthalmologist on staff at Mac so appointments are split into two stages. First is the assessment we're having now and, based on that assessment, our appointment with the ophthalmologist is scheduled in priority order.
The technician who examines Lauren today determines that despite the appearance of being uneven, her eyes are level. Sweet. She also determines that all of Lauren's eye function - how they focus together and individually - is also normal. Extra sweet. All good news. We were pretty sure prior to the appointment that her pupils were level regardless of the droopy lid. We were VERY happy to hear that everything else seems to be functioning as it should.
Because Lauren's eye issues are due to a genetic anomaly, our follow up appointment is set for only two weeks away, rather than a few months and we're back on the road in less than a hour.
Note this date. I think it's the only time we'll ever be out of the Mac parking garage without paying the maximum parking fee.
With her eye spacing different that it should be, the function of her eyes is the concern. If they're not triangulating properly, the brain starts to disregard the message from one eye in order to see better. Over time the brain stops 'caring' about the signal from that eye causing the eye to turn toward the nose or get 'lazy'.
Note to self. Fridays at the Mac eye clinic are quiet. Eerily quiet.
We arrive in the clinic for our late morning appointment to find the office empty. No patients and no staff in sight. After a few minutes a woman appears from within the exam rooms who is going to check the physical placement and movement of Lauren's eyes.
Turns out we aren't even going to see the ophthalmologist today (I says, "pardon?"). Historically, they would do everything the same appointment. Unfortunately, there is currently only one. Yes O-N-E. pediatric ophthalmologist on staff at Mac so appointments are split into two stages. First is the assessment we're having now and, based on that assessment, our appointment with the ophthalmologist is scheduled in priority order.
The technician who examines Lauren today determines that despite the appearance of being uneven, her eyes are level. Sweet. She also determines that all of Lauren's eye function - how they focus together and individually - is also normal. Extra sweet. All good news. We were pretty sure prior to the appointment that her pupils were level regardless of the droopy lid. We were VERY happy to hear that everything else seems to be functioning as it should.
Because Lauren's eye issues are due to a genetic anomaly, our follow up appointment is set for only two weeks away, rather than a few months and we're back on the road in less than a hour.
Note this date. I think it's the only time we'll ever be out of the Mac parking garage without paying the maximum parking fee.
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