A short one.
Henry was taken to see a neurologist a while ago in the hopes of figuring out why he's so awful at sleeping, whether it's in going to sleep or staying asleep. Right now, we dose him with melatonin so that he'll fall asleep within a half-hour; before the melatonin, it was a nightly battle of 1½ to 2 hours to get him settled down enough to fall asleep.
Every. Night.
The reason: he was just hyper and could not calm down. We got a suggestion from our FX support group members that a common manifestation for kids with FXS is a non-stop production of cortisol, which puts them physically in a constant fight-or-flight mode. To combat that, we were given the suggestion of giving him melatonin supplements to counteract the overproduction of cortisol.
The first night we gave it to him was a miracle. He went to sleep within a half hour, and we haven't looked back since. A bottle of melatonin liquid is a staple now, and we've come dangerously close to running out a few times. That meant dropping everything and going to buy more, because, like beer, we shall not run out!
The neurologist was unable to examine him because, well, as anyone who knows Henry knows, he is not comfortable around strangers. And it's magnified when he's in a medical facility, because as far as he's concerned, only Bad Things have happened at medical facilities. The neurologist recommended we submit him to a sleep study through Children's Hospital.
Okay, fine.
Tonight was his appointment, and tonight was the night when the inner beast was unleashed.
Since I had class tonight, Lori was to take him in just before bedtime and spend the night in the observation lab. Henry apparently went Incredible Hulk. Because what the neurologist failed to tell us was that the study required all kinds of sensors and wires to be stuck on, around, and even in him (up his nose).
Just hearing that, I could tell you that it was not going to happen. He reacts to hair cuts like we're killing him. It took all of my strength and dexterity to restrain him for a mere hair cut. And yes, I had to restrain him.
Unfortunately, Lori took the brunt of Henry's explosion. Scratches, bites, punches, and even a fistful of hair ripped out. Lori said that she had never seen an expression of contorted terror on Henry's face like that before, or the kind of back arching and physical contortions he was in to try to get away.
Then the tech offered to try again.
Needless to say, they came home. I knew something was wrong when I saw Lori's car in the garage when I pulled into the driveway coming home from class. She had just gotten Henry to sleep -- calmly and in his own bed -- when I came in the house.
So the moral of this story is this.
To all of my friends who are in the medical field and those studying to go into the medical field, please remember your street smarts on top of the book smarts. Don't treat kids with special needs like a by-the-book numbers game, because unfortunately, we've run into more doctors and nurses ill-equipped to handle special-needs kids than we could have reasonably expected.
I mean, isn't it a thing in one of their classes or something? If not, shouldn't it be? Even if it's just a 10-minute Powerpoint titled "Don't Treat Parents of Special Needs Kids Like Morons Who Don't Know What They're Talking About, They Know Their Kid Better Than We Will?"
Slide 1: should you treat your special-needs patient's parents like uneducated fools?
Slide 2: no.
End of presentation
The neurologist was so entrenched in book knowledge that she apparently had no ability to extrapolate or think beyond the procedure. I get that there are liability issues, but come on. If the kid wasn't going to let you near him, let alone touch him, why would you think that hooking him up to what amounted to a transmission flush machine would be successful?
In the past, when Henry got another ear infection, we went to an urgent care clinic and I told the attending physician what his Dx was to be, and what needed to be prescribed. With the way I presented the information to him, he asked if I was a doctor.
No, I'm a parent who is also a troubleshooter by profession so I know how to present the data of a problem in order to seek resolution. Whether it's a computer or a human body, the technique is the same. Ask the right questions, think analytically, think critically.
On top of the ENT doctor who got annoyed that Henry was terrified of him, the med-student kids who asked inane and irrelevant questions of us while Henry was coming down with bronchial pneumonia, and the pediatric surgeon who decided to hold class for his med student kids in our room while Henry was trying to sleep, please, please, please remember that your patients are people, not chapters in a book.
And just because you may have seen countless similar cases in the 20, 30, 40 years you've done this, not all cases will have the same outcomes. Don't get lazy.
Showing posts with label medical systems. Show all posts
Showing posts with label medical systems. Show all posts
Thursday, July 9, 2015
Thursday, May 15, 2014
A Big Kid
Today, after torturing our poor boy with a visit to the otolaryngologist to check on his tubes and then subjecting him to a haircut, we took Henry over to the play area at Lakeside Mall to chill him out.
There was an older boy who was playing with whom I presume was his younger brother. The younger boy was interested in playing with Henry, who was having a ball walking between Lori and me. Henry also occasionally veered from his path between us to go exploring on his own (!!!! MILESTONE !!!!!).
On those explorations was when the younger boy would approach Henry to get him to play with them. But Henry being who he is just walked away and continued on his own path. No big deal.
What I did notice, though, was that younger boy -- whom I estimated to be about 3 or 4 years old -- was maybe only a half an inch to an inch taller than Henry. That was quite a shock to me, but it also probably explained why the younger boy was hoping the Henry would be amenable to playing with them.
He likely thought Henry was the same age. And that's not even getting into the whole "developmental vs. physical age" topic in my own head.
Today was also Evie's 6-month check-up at the pediatrician (and on a side note, we found out that the doctor we really like at this office is leaving in July...hopefully, she's staying in the area and not, say, opening her own practice in Tennessee. But she has a unique name, so I'm sure the Internets will help us in tracking her down). Evie is still in the 75th percentile in height and weight. Henry was in the 95th for height while between 50-75th for weight, so Evie may be big for her age but she's proportional whereas Henry is tall and skinny.
And yeah, just grasping his little noodle arms while he's walking, I'm harboring some secret fears that I'm going to just accidentally snap them like kindling.
Our 2-year-old is the size of a kindergartener.
Though in reality, as soon as we left the haircut place, he was fine. However, we'd never seen him rage THAT hard before, to the point of clenching his fists and trembling in pure and utter emotional meltdown. Anyway...
There was an older boy who was playing with whom I presume was his younger brother. The younger boy was interested in playing with Henry, who was having a ball walking between Lori and me. Henry also occasionally veered from his path between us to go exploring on his own (!!!! MILESTONE !!!!!).
On those explorations was when the younger boy would approach Henry to get him to play with them. But Henry being who he is just walked away and continued on his own path. No big deal.
What I did notice, though, was that younger boy -- whom I estimated to be about 3 or 4 years old -- was maybe only a half an inch to an inch taller than Henry. That was quite a shock to me, but it also probably explained why the younger boy was hoping the Henry would be amenable to playing with them.
He likely thought Henry was the same age. And that's not even getting into the whole "developmental vs. physical age" topic in my own head.
Today was also Evie's 6-month check-up at the pediatrician (and on a side note, we found out that the doctor we really like at this office is leaving in July...hopefully, she's staying in the area and not, say, opening her own practice in Tennessee. But she has a unique name, so I'm sure the Internets will help us in tracking her down). Evie is still in the 75th percentile in height and weight. Henry was in the 95th for height while between 50-75th for weight, so Evie may be big for her age but she's proportional whereas Henry is tall and skinny.
And yeah, just grasping his little noodle arms while he's walking, I'm harboring some secret fears that I'm going to just accidentally snap them like kindling.
Our 2-year-old is the size of a kindergartener.
Saturday, February 22, 2014
Welcome, New Friends
To my Facebook friends I've added recently, welcome. You're here because I directed you here to explain a very significant aspect of my life. Many of you know that I have young children, but you may not be aware that my kids aren't typical.
Clearly, the theme of this blog may give you some idea of what's going on, but to summarize, the kids have Fragile X Syndrome, a genetic disorder that manifests in a way similar to autism spectrum disorder. In fact, FXS is leading genetic cause of ASD. But this doesn't necessarily mean that the kids are autistic.
What it really means is that they will have some challenges in life, as will we. We don't know what the extent of their challenges will be. So if you read me talking about accomplishments that they achieve that sound a little "behind," like going nuts over the fact that my nearly-two-year-old son has finally begun speaking, it's not because of "all children develop at their own pace," or some other cliched platitude like that.
It's because for a kid with developmental delays and possible intellectual disabilities, something like that is huge, for both him and us.
The problem is, again, that we don't know what is in store for these kids.
So I invite you all to peruse the pages and links I've put up. This will hopefully give you some background into why I may post a few statuses on FB that may come across like a 21st Century Helicopter Parent of the Year candidate. It is, in fact, the culmination of a long road that we've traveled thus far, and the long road ahead of us.
We don't have typically-developing kids.so it'll be somewhat difficult to relate at times. Just as it's difficult for me to relate to the parents of kids who don't have these developmental issues to contend with. I may occasionally look with envy at parents who are having "normal" problems with their kids, because I know that I may not experience those "normal" problems.
It may seem awful to use the term "normal" in that respect, as if my kids are subhuman somehow. But to be blunt, they don't fit into the "normal" stream of life -- not necessarily "lower" or "inferior" or "unworthy," but just off to the side somewhere. The reality also is that when medical professionals respond to us with "fragile what?" at various appointments, it's hard not to get discouraged. It's hard when medical professionals have to act with confidence and dignity but give us bad advice that we know is bad advice -- advice that's geared toward typically developing kids that doesn't apply to our case.
So on occasion, you may read about our frustrations and our celebrations. Hopefully, you now have a better understanding of why we're making a big deal out of certain things that would otherwise seem like it should be routine.
Thank you for reading, and see you out on the ocean of social media.
Clearly, the theme of this blog may give you some idea of what's going on, but to summarize, the kids have Fragile X Syndrome, a genetic disorder that manifests in a way similar to autism spectrum disorder. In fact, FXS is leading genetic cause of ASD. But this doesn't necessarily mean that the kids are autistic.
What it really means is that they will have some challenges in life, as will we. We don't know what the extent of their challenges will be. So if you read me talking about accomplishments that they achieve that sound a little "behind," like going nuts over the fact that my nearly-two-year-old son has finally begun speaking, it's not because of "all children develop at their own pace," or some other cliched platitude like that.
It's because for a kid with developmental delays and possible intellectual disabilities, something like that is huge, for both him and us.
The problem is, again, that we don't know what is in store for these kids.
So I invite you all to peruse the pages and links I've put up. This will hopefully give you some background into why I may post a few statuses on FB that may come across like a 21st Century Helicopter Parent of the Year candidate. It is, in fact, the culmination of a long road that we've traveled thus far, and the long road ahead of us.
We don't have typically-developing kids.so it'll be somewhat difficult to relate at times. Just as it's difficult for me to relate to the parents of kids who don't have these developmental issues to contend with. I may occasionally look with envy at parents who are having "normal" problems with their kids, because I know that I may not experience those "normal" problems.
It may seem awful to use the term "normal" in that respect, as if my kids are subhuman somehow. But to be blunt, they don't fit into the "normal" stream of life -- not necessarily "lower" or "inferior" or "unworthy," but just off to the side somewhere. The reality also is that when medical professionals respond to us with "fragile what?" at various appointments, it's hard not to get discouraged. It's hard when medical professionals have to act with confidence and dignity but give us bad advice that we know is bad advice -- advice that's geared toward typically developing kids that doesn't apply to our case.
So on occasion, you may read about our frustrations and our celebrations. Hopefully, you now have a better understanding of why we're making a big deal out of certain things that would otherwise seem like it should be routine.
Thank you for reading, and see you out on the ocean of social media.
Monday, December 9, 2013
Sitting Up
Henry achieved his milestone of getting into sitting position from his stomach.
One of the features of Fragile X is low muscle tone. This isn't the "muscle tone" of the fitness marketing industry that actually means "low body fat percentage achieved by wasting time lifting 5 lb. dumbbells." The term "muscle tone" is derived from the word tonus, which is a state of contraction for the muscle.
FXS's neurological component means that Henry's muscular strength lags behind children the same age as him who aren't affected. The nervous system has as much to do with strength as the physical size of the muscle.
Henry lacks upper body strength, which is why you see him crawling on the floor using his arms instead of on hands and knees. But through the last few weeks of physical therapy, we've been slowly building his upper body strength, and the result is the above video.
I first noticed him do this last week when after a long crying bout in bed, I went to check in on him and found him actually sitting up in his crib. This was significant because the typical milestones have this tabbed at around 6-9 months of age. Earlier this week, when I saw him drag himself over to where I was feeding Evie then saw him sitting, I nearly cried.
The PT has clearly been helping. He's getting an intense workout that we normally wouldn't have known about. And as further aggravation with our pediatrician's office, it's a workout that he wouldn't have gotten through them, either -- they seem to be more content to cycle through well-baby visits and the occasional colds.
They're not equipped to handle special cases that fall outside the norm.
In fact, when we stopped by there this morning after Henry's PT session to ask them for a prescription for orthotics for his feet, they seemed ill-equipped to process the fact that we went to the county's early intervention program of our own volition rather than getting the prescription (because again, we wouldn't have gotten one because the doctors there don't seem to be on the ball about special needs).
So anyway, Henry has about a year's worth of physical development to catch up on, and then to keep up with the expected development for kids typical of his age.
But with moments like the video above and also this morning when he pulled himself onto his knees then onto his feet are the significant rewards. I'm simultaneously overjoyed to witness these milestones as well as aggravated that we have to make such an effort, that we couldn't have had just a typical run of things with the kids.
One of the features of Fragile X is low muscle tone. This isn't the "muscle tone" of the fitness marketing industry that actually means "low body fat percentage achieved by wasting time lifting 5 lb. dumbbells." The term "muscle tone" is derived from the word tonus, which is a state of contraction for the muscle.
FXS's neurological component means that Henry's muscular strength lags behind children the same age as him who aren't affected. The nervous system has as much to do with strength as the physical size of the muscle.
Henry lacks upper body strength, which is why you see him crawling on the floor using his arms instead of on hands and knees. But through the last few weeks of physical therapy, we've been slowly building his upper body strength, and the result is the above video.
I first noticed him do this last week when after a long crying bout in bed, I went to check in on him and found him actually sitting up in his crib. This was significant because the typical milestones have this tabbed at around 6-9 months of age. Earlier this week, when I saw him drag himself over to where I was feeding Evie then saw him sitting, I nearly cried.
The PT has clearly been helping. He's getting an intense workout that we normally wouldn't have known about. And as further aggravation with our pediatrician's office, it's a workout that he wouldn't have gotten through them, either -- they seem to be more content to cycle through well-baby visits and the occasional colds.
They're not equipped to handle special cases that fall outside the norm.
In fact, when we stopped by there this morning after Henry's PT session to ask them for a prescription for orthotics for his feet, they seemed ill-equipped to process the fact that we went to the county's early intervention program of our own volition rather than getting the prescription (because again, we wouldn't have gotten one because the doctors there don't seem to be on the ball about special needs).
So anyway, Henry has about a year's worth of physical development to catch up on, and then to keep up with the expected development for kids typical of his age.
But with moments like the video above and also this morning when he pulled himself onto his knees then onto his feet are the significant rewards. I'm simultaneously overjoyed to witness these milestones as well as aggravated that we have to make such an effort, that we couldn't have had just a typical run of things with the kids.
Tuesday, November 12, 2013
Another Chapter in "Fragile What?"
Yesterday was Henry's surgery to get tubes in his ears. One of the many nurses came up for her turn to ask the same questions -- his name? his DOB? do you know why we're here? are you his parents? is he on any medication? -- and got to the part where she had to confirm any other issues or conditions not covered in the "normal" range of questions. As such, she was ready to blow past the question and move on to the next step.
The question was "any other issues? No developmental delays, he's walking and crawling....."
*sudden screech of tires*
Us: "Uh, actually, yes. He has Fragile X Syndrome, so he's got some developmental delays."
*pause*
The nurse was clearly not expecting anyone to actually answer this question in the positive, so her reflexive routine and memorized script were thrown off.
Her: "Oh, is that the one where his bones can break easily.....?"
*brief stunned silence -- tide goes in, tide goes out, you can't explain that *
It's getting to the point where we're encountering so many medical professionals who don't know what Fragile X is or have heard of it that I'm tempted to carry a box of pamphlets with me so that the people who are being tasked (and paid) to provide care for my children get educated in what to expect and how to deal with it.
I also don't know if my attitude is a result of looking to pick a fight, of expecting to have to explain FXS to people who, one would think, should know more than I do. But so far, the percentages are not in favor of the medical professionals.
The question was "any other issues? No developmental delays, he's walking and crawling....."
*sudden screech of tires*
Us: "Uh, actually, yes. He has Fragile X Syndrome, so he's got some developmental delays."
*pause*
The nurse was clearly not expecting anyone to actually answer this question in the positive, so her reflexive routine and memorized script were thrown off.
Her: "Oh, is that the one where his bones can break easily.....?"
*brief stunned silence -- tide goes in, tide goes out, you can't explain that *
What we said:My private thought was rather sarcastic, so I was glad that I was looking down and playing with Henry instead while Lori handled the explanation.
"No, it's a genetic condition that's related to autism, though he's not yet been diagnosed as autistic...." (and then continued with the usual litany of FXS characteristics)
What I thought in my head:
"No, sweetheart, that's osteogenesis imperfecta; just because the word 'fragile' is involved doesn't make a leap to a conclusion appropriate."
It's getting to the point where we're encountering so many medical professionals who don't know what Fragile X is or have heard of it that I'm tempted to carry a box of pamphlets with me so that the people who are being tasked (and paid) to provide care for my children get educated in what to expect and how to deal with it.
I also don't know if my attitude is a result of looking to pick a fight, of expecting to have to explain FXS to people who, one would think, should know more than I do. But so far, the percentages are not in favor of the medical professionals.
Tuesday, October 8, 2013
Correlation Leads to Consternation
A seemingly common theme purported by medical experts is that there is no scientifically proven correlation between teething and the collective symptoms of runny noses, fevers, and general crankiness.
This is the problem when one's conclusions are based on statistical analysis rather than a fussy baby that one sees every day.
While there may be a whole mean/median thing to it, I believe there is a correlation. Especially when the coinciding occurrences of fevers, runny noses, and the vomiting that comes from not feeling good and possible nasal drainage going into the stomach curiously seem to accompany new teeth.
Each. Time.
So based on such statistical evidence, my son has been catching a cold and then getting a new tooth as a result every few months for over a year. Got it.
In other news that seems unrelated but will eventually converge back into the central point, we had an appointment with an otolaryngologist. Henry will be scheduled for tubes in his ears because he's been getting ear infections pretty much non-stop since February/March. It's been so frequent that we know how to store amoxicillin and cefdinir (amoxi in the fridge, cef at room temp) now without the pharmacy tech having to explain it to us.
While the procedure won't eliminate ear infections, it will reduce the frequency, and that alone is a vast improvement.
How this relates to the central theme of selective reliance on medical professionals' opinions and scientific evidence is this. We have thus far experienced more encounters with medical professionals who don't seem to be as qualified or prepared to deal with children who fall outside the "Normal" spectrum.
And by "normal," I mean kids who fall around the 50th percentile in everything and reach the vast majority of developmental milestones on time or even earlier.
I understand that doctors see a lot of patients every day, so there's little time to dedicate to special cases. I get it. In my line of work, I have little to no time to deal with the Linux operating system because the majority of my work centers around the Windows world, and to a smaller extent, Macs. So if someone comes to me with a Linux problem, I have to refer them to a Linux expert.
But that comes back to the whole irritation that I've had lately with medical professionals. So my kid doesn't fall into neat and tidy statistical norms. I get that. But at least take our concerns a bit more seriously than floundering around in the shoals of Not Knowing How to Deal With This.
I appreciated that the otolaryngologist at least looked up what Fragile X Syndrome is and its effects and symptoms minutes before coming into the exam room to talk to me, but I couldn't help feeling a bit put off by that. This was apparently the first time he'd ever heard of it or had to look seriously into it because voila, here's a patient in his facility who has this mythical condition.
I appreciate that research studies have carefully analyzed results to determine that there is not strong enough evidence to support a correlation between teething and fever/runny nose/lethargy/nausea. Yet, despite the lack of statistical evidence, there is anecdotal evidence that it's a possibility or else, would it really be that popular an Internet search?
I'm a fan of statistics, logic, and evidence. But sometimes, there will be enough observations that fall outside the normal distribution, outside of the n samples, and well into the alpha range (sorry; getting all stats-happy here). The point is that the numbers on the sheet of paper that studied maybe 300-1000 children don't always adequately explain the one kid sitting and crying in front of you, who has shown an actual observable linked pattern.
I don't expect scientists to be watching Henry every day for the last 15-16 months to develop their hypotheses (and I'd be a little creeped out if they did). All I ask is for medical professionals to maybe take me slightly more seriously, even if they're constantly deluged by hyperactive hysterical hypochondriac parents more frequently than they see me.
Maybe even let me finish a sentence. That'd be nice.
I'd like a medical professional to be able to get to know us just a little bit more to understand that we're trying not to be Those Parents.
I try to research problems with my child before approaching the doctor so that I know what information they need. I troubleshoot professionally, and while perhaps a bit cold to consider it in these terms, I am essentially troubleshooting my boy.
One night in urgent care, I gave the attending physician the level of detail and observations on Henry to where he asked if I was a doctor. No, I've just answered the same questions from doctors enough times to where I know what questions are going to come next. I also questioned the nurse's skills in weighing the boy when she declared him to be about 6 lbs. heavier than what I knew him to be.
It was from that moment that I resolved not to be so damn passive.
I have the utmost respect for medical professionals, but it became clear that they're also very prone to making mistakes and that rolling over when I know they've made a mistake just because I'm intimidated by their educational credentials and professional prestige is a bad way to go. So there's the constant course correction I'm having to make, that consternation.
Balancing their medical expertise with the expertise I have in my son. How much do I listen to, and how much do I ignore. Which battles are worth fighting and for how long.
This is the problem when one's conclusions are based on statistical analysis rather than a fussy baby that one sees every day.
While there may be a whole mean/median thing to it, I believe there is a correlation. Especially when the coinciding occurrences of fevers, runny noses, and the vomiting that comes from not feeling good and possible nasal drainage going into the stomach curiously seem to accompany new teeth.
Each. Time.
So based on such statistical evidence, my son has been catching a cold and then getting a new tooth as a result every few months for over a year. Got it.
In other news that seems unrelated but will eventually converge back into the central point, we had an appointment with an otolaryngologist. Henry will be scheduled for tubes in his ears because he's been getting ear infections pretty much non-stop since February/March. It's been so frequent that we know how to store amoxicillin and cefdinir (amoxi in the fridge, cef at room temp) now without the pharmacy tech having to explain it to us.
While the procedure won't eliminate ear infections, it will reduce the frequency, and that alone is a vast improvement.
How this relates to the central theme of selective reliance on medical professionals' opinions and scientific evidence is this. We have thus far experienced more encounters with medical professionals who don't seem to be as qualified or prepared to deal with children who fall outside the "Normal" spectrum.
And by "normal," I mean kids who fall around the 50th percentile in everything and reach the vast majority of developmental milestones on time or even earlier.
I understand that doctors see a lot of patients every day, so there's little time to dedicate to special cases. I get it. In my line of work, I have little to no time to deal with the Linux operating system because the majority of my work centers around the Windows world, and to a smaller extent, Macs. So if someone comes to me with a Linux problem, I have to refer them to a Linux expert.
But that comes back to the whole irritation that I've had lately with medical professionals. So my kid doesn't fall into neat and tidy statistical norms. I get that. But at least take our concerns a bit more seriously than floundering around in the shoals of Not Knowing How to Deal With This.
I appreciated that the otolaryngologist at least looked up what Fragile X Syndrome is and its effects and symptoms minutes before coming into the exam room to talk to me, but I couldn't help feeling a bit put off by that. This was apparently the first time he'd ever heard of it or had to look seriously into it because voila, here's a patient in his facility who has this mythical condition.
I appreciate that research studies have carefully analyzed results to determine that there is not strong enough evidence to support a correlation between teething and fever/runny nose/lethargy/nausea. Yet, despite the lack of statistical evidence, there is anecdotal evidence that it's a possibility or else, would it really be that popular an Internet search?
I'm a fan of statistics, logic, and evidence. But sometimes, there will be enough observations that fall outside the normal distribution, outside of the n samples, and well into the alpha range (sorry; getting all stats-happy here). The point is that the numbers on the sheet of paper that studied maybe 300-1000 children don't always adequately explain the one kid sitting and crying in front of you, who has shown an actual observable linked pattern.
I don't expect scientists to be watching Henry every day for the last 15-16 months to develop their hypotheses (and I'd be a little creeped out if they did). All I ask is for medical professionals to maybe take me slightly more seriously, even if they're constantly deluged by hyperactive hysterical hypochondriac parents more frequently than they see me.
Maybe even let me finish a sentence. That'd be nice.
I'd like a medical professional to be able to get to know us just a little bit more to understand that we're trying not to be Those Parents.
I try to research problems with my child before approaching the doctor so that I know what information they need. I troubleshoot professionally, and while perhaps a bit cold to consider it in these terms, I am essentially troubleshooting my boy.
One night in urgent care, I gave the attending physician the level of detail and observations on Henry to where he asked if I was a doctor. No, I've just answered the same questions from doctors enough times to where I know what questions are going to come next. I also questioned the nurse's skills in weighing the boy when she declared him to be about 6 lbs. heavier than what I knew him to be.
It was from that moment that I resolved not to be so damn passive.
I have the utmost respect for medical professionals, but it became clear that they're also very prone to making mistakes and that rolling over when I know they've made a mistake just because I'm intimidated by their educational credentials and professional prestige is a bad way to go. So there's the constant course correction I'm having to make, that consternation.
Balancing their medical expertise with the expertise I have in my son. How much do I listen to, and how much do I ignore. Which battles are worth fighting and for how long.
Monday, July 15, 2013
I Can Haz Closure?
It's been over 4 weeks now since Henry got his blood drawn to test conclusively for Fragile X and we still haven't heard anything, despite the "10-14 days." It's rather irritating and exhausting having to fight with reluctant health systems to get any answers or reasonable appointment dates.
Monday, June 24, 2013
Waiting
Last Wednesday, we took Henry in to meet with a geneticist to discuss his development, progress, and evaluate the necessity for a blood test. They attempted to draw blood from him, but his veins weren't cooperating so they ended up sticking him twice to no avail, all while he's screaming and looking up at Lori with that look of "why can't you make this stop?"
It was heartbreaking.
The nurse came back with an order to make an appointment for the next day or two to try again. We got him calmed down and packed up, and headed back to the front desk. That was when the fun of misaligned communication & training in the medical administration field reared its face.
I handed the draw order to the person at the desk, assuming that she would be able to read the order and understand that we need an appointment to come back. We were immediately met with a "we don't make appointments here. You have to call this number and they'll schedule it."
I politely argued that the nurse in the back personally stated that we were to come back up front to make arrangements for "The Nurse" to do the blood draw. The woman with whom I was speaking even turned to her colleague to ask what she should do, and her colleague even confirmed that I needed to possibly go downtown for additional procedures, and that because the doctor had gone to lunch, they couldn't confirm the order right away.
I nearly snapped, and Lori saw the tension in me reach stratospheric levels. I again reiterated that the nurse who tried to draw Henry's blood specifically said we needed to make this appointment that day so that I could come back to that facility. The woman said she would go talk to her.
5 minutes later, she returned and wordlessly began typing at her terminal. We got an appointment for the next day at 3:20pm. I curtly thanked them and we left.
That was when Lori mentioned that my tolerance limit for miscommunications was at an end, despite my traditionally superhuman levels of patience.
I returned the next day with Henry, determined to put the previous day behind me and be more pleasant. This experience went much more smoothly as the pediatric nurse was able to draw Henry's blood much more easily. Sure, he screamed, but it subsided rather quickly after we were done.
So his samples are off to testing, and we wait another week or so to confirm that he has Fragile X. At this rate, I can't realistically or logically believe it's anything else, especially after speaking with the geneticist and the genetic counselor.
It was heartbreaking.
The nurse came back with an order to make an appointment for the next day or two to try again. We got him calmed down and packed up, and headed back to the front desk. That was when the fun of misaligned communication & training in the medical administration field reared its face.
I handed the draw order to the person at the desk, assuming that she would be able to read the order and understand that we need an appointment to come back. We were immediately met with a "we don't make appointments here. You have to call this number and they'll schedule it."
I politely argued that the nurse in the back personally stated that we were to come back up front to make arrangements for "The Nurse" to do the blood draw. The woman with whom I was speaking even turned to her colleague to ask what she should do, and her colleague even confirmed that I needed to possibly go downtown for additional procedures, and that because the doctor had gone to lunch, they couldn't confirm the order right away.
I nearly snapped, and Lori saw the tension in me reach stratospheric levels. I again reiterated that the nurse who tried to draw Henry's blood specifically said we needed to make this appointment that day so that I could come back to that facility. The woman said she would go talk to her.
5 minutes later, she returned and wordlessly began typing at her terminal. We got an appointment for the next day at 3:20pm. I curtly thanked them and we left.
That was when Lori mentioned that my tolerance limit for miscommunications was at an end, despite my traditionally superhuman levels of patience.
I returned the next day with Henry, determined to put the previous day behind me and be more pleasant. This experience went much more smoothly as the pediatric nurse was able to draw Henry's blood much more easily. Sure, he screamed, but it subsided rather quickly after we were done.
So his samples are off to testing, and we wait another week or so to confirm that he has Fragile X. At this rate, I can't realistically or logically believe it's anything else, especially after speaking with the geneticist and the genetic counselor.
Tuesday, June 4, 2013
The First Meeting
Yesterday, we went downtown after a comedy of errors that took us to the suburban location of the hospital system. We met with the genetic counselor and the prenatal diagnosis doctor to talk about the results of Little Girl's test results, as I'd mentioned in yesterday's post.
For more details, the results did confirm that she is >200 in CGG repeats. We had to sit through the genetic counselor's introductory lecture on reproductive genetics and what amounted to basic high school Punnet Square lessons. As a genetic counselor, she's trained to be very nice, soft-spoken, and supportive, so I had to at least give her the benefit of the doubt as I'm sure she encounters many families who don't remember their high school biology (and I'm sure younger than I).
(I do remember quite vividly that cytosine and guanine pair, and adenine and thymine pair; the mnemonic device I used to remember that is in the shape of the letters. C and G are round, A and T have straight lines)
But the basic lessons were a bit insulting, I have to admit. As was the review of the effects of Fragile X, as if Lori and I hadn't been spending nearly all of our waking hours for the past 3 weeks poring over every Fragile X resource we can find to learn all we can about this condition.
I wanted to know whether the specific number of repeats correlated to the observed severity of symptoms in a child. That resulted in a two-part question: is the test that was performed after the CVS capable of detecting the actual number of repeats or does it just stop after the 200 threshold is reached? And second, does the correlation exist between frequency of repeats and the severity of impairments?
The counselor was unable to answer those questions directly, though she did try her best with a bunch of industry double-speak and vagueries. The short version of her answer, though, was "the Southern Blot test can pinpoint the specific frequency of CGG repeats," and "nobody knows."
In my programmer/analyst mind, I can accept a vague answer. Not every problem can have a clearly defined solution, especially not right away. And considering that Fragile X was essentially only discovered just over 20 years ago, it's still comparatively a new "disease" or condition.
Although I hate to call it a "disease" because that would imply that Fragile X can be "caught," like an infection.
But as a parent, that uncertainty displeases me. I know we're in for a long road, but not knowing what any of that looks like just doesn't sit well. And double that with helplessly watching my wife being crushed by her own sense of guilt and despair and not know what to do for her -- my heart & soul -- and it's a wonder that I can write any of this with clarity and forethought.
If I let my emotions take over, I suppose this post would look more like "SAUO'WZS9USV-0Ue-0u
aeyr-u2[[efvA9BP'A;BABRY9;094UYBA90!!!!!!!!"
(this is probably why CTRL+ALT+DEL is a very specific key combination)
Finally, the counselor also had to bring up "managing the pregnancy," a gentle little euphemism for abortion. She brought it up as a legal requirement since 24 weeks is the limit. For us, that's not an option. The inability of the medical establishment to clearly define whether Little Girl is going to be a helpless vegetable with nary a brain stem and heart or a perfectly fine baby with maybe some difficulties comprehending math in a linear fashion is not enough to justify or warrant termination.
My stomach just churns at the thought.
We're a pro-choice family, but lest I inadvertently turn this into a political affair, my support of choice does not mean that I automatically choose to terminate. We are merely exercising our freedom of choice and choosing to have this baby. We know it's going to be hard, and the uncertainty of the future is scary. But I believe we're strong enough, even if Lori doesn't feel that she is.
For all I know, the universe may have chosen us to have one or maybe two kids with FX because we can potentially be more advocates for the condition, like some of our friends who have autistic children.
For more details, the results did confirm that she is >200 in CGG repeats. We had to sit through the genetic counselor's introductory lecture on reproductive genetics and what amounted to basic high school Punnet Square lessons. As a genetic counselor, she's trained to be very nice, soft-spoken, and supportive, so I had to at least give her the benefit of the doubt as I'm sure she encounters many families who don't remember their high school biology (and I'm sure younger than I).
(I do remember quite vividly that cytosine and guanine pair, and adenine and thymine pair; the mnemonic device I used to remember that is in the shape of the letters. C and G are round, A and T have straight lines)
But the basic lessons were a bit insulting, I have to admit. As was the review of the effects of Fragile X, as if Lori and I hadn't been spending nearly all of our waking hours for the past 3 weeks poring over every Fragile X resource we can find to learn all we can about this condition.
I wanted to know whether the specific number of repeats correlated to the observed severity of symptoms in a child. That resulted in a two-part question: is the test that was performed after the CVS capable of detecting the actual number of repeats or does it just stop after the 200 threshold is reached? And second, does the correlation exist between frequency of repeats and the severity of impairments?
The counselor was unable to answer those questions directly, though she did try her best with a bunch of industry double-speak and vagueries. The short version of her answer, though, was "the Southern Blot test can pinpoint the specific frequency of CGG repeats," and "nobody knows."
In my programmer/analyst mind, I can accept a vague answer. Not every problem can have a clearly defined solution, especially not right away. And considering that Fragile X was essentially only discovered just over 20 years ago, it's still comparatively a new "disease" or condition.
Although I hate to call it a "disease" because that would imply that Fragile X can be "caught," like an infection.
But as a parent, that uncertainty displeases me. I know we're in for a long road, but not knowing what any of that looks like just doesn't sit well. And double that with helplessly watching my wife being crushed by her own sense of guilt and despair and not know what to do for her -- my heart & soul -- and it's a wonder that I can write any of this with clarity and forethought.
If I let my emotions take over, I suppose this post would look more like "SAUO'WZS9USV-0Ue-0u
aeyr-u2[[efvA9BP'A;BABRY9;094UYBA90!!!!!!!!"
(this is probably why CTRL+ALT+DEL is a very specific key combination)
Finally, the counselor also had to bring up "managing the pregnancy," a gentle little euphemism for abortion. She brought it up as a legal requirement since 24 weeks is the limit. For us, that's not an option. The inability of the medical establishment to clearly define whether Little Girl is going to be a helpless vegetable with nary a brain stem and heart or a perfectly fine baby with maybe some difficulties comprehending math in a linear fashion is not enough to justify or warrant termination.
My stomach just churns at the thought.
We're a pro-choice family, but lest I inadvertently turn this into a political affair, my support of choice does not mean that I automatically choose to terminate. We are merely exercising our freedom of choice and choosing to have this baby. We know it's going to be hard, and the uncertainty of the future is scary. But I believe we're strong enough, even if Lori doesn't feel that she is.
For all I know, the universe may have chosen us to have one or maybe two kids with FX because we can potentially be more advocates for the condition, like some of our friends who have autistic children.
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