I love watching Lucy fall in love.
I can see how some people hate watching their kids reach for other people, but I'd rather have Lucy love and trust the person she's with. And she, after all of two visits from Carrie the CNA, really likes Carrie. She likes to play with Carrie and hug Carrie and make Carrie eat her necklace (Carrie's necklace, not Lucy's necklace. Lucy does not wear necklaces.)
I guess my fear is that Carrie isn't me -- so she won't challenge her and teach her the way I will, and Lucy might not keep gaining skills. So I'll have to teach Carrie, in this time, to think like me. It's amazing how when you have a kid with a catastrophic illness, you do not fear that they will love their caregiver more. You instead fear that there will be a stagnation in skills, or that they won't be loved enough because they're so different.
God bless Carrie.
As for the Other Stuff, well, Travis had a question about Dravet Spectrum Disorders. So I called our genetic counselor. Let me catch y'all up.
DSDs are unlike most, if not all other genetic disorders in that when you break an SCN1A or SCN1B gene, you may have any of the following: Febrile seizures, GEFS+, ICE-GTC, SIMFE, or SMEI, which is Dravet Syndrome. I've listed them in order from mild to severe. We already know that Febrile Seizures, the mildest form, is off the table. If you want a brief catchup, go here.
GEFS+ is the next one, and the last of these to be classified as "mild." We've seen the "G" explained as "generalized" or "genetic" -- and so we wanted to know if that meant that there needed to be a family history for this to still be a possibility.
Look, we pretty much knew, given how her seizures progress, that this one was off the table, too. And we also are smart enough to know that labeling Lucy at this point isn't helping. Knowing that she has this mutation helps, but labeling her after that doesn't, except to give us some closure and maybe give us some idea that it has gotten as bad as it can get. Naming the beast doesn't change treatments or meds, or anything. We still have to be as aggressinve as we can, and we still have to stop trying to limit her abilities as much as we can. In fact, I think not naming it keeps us from limiting her as best we can.
But GEFS+ needs a family history of seizures, which we don't have, and so it is off the table. Which means we are now in the part of the map where there be dragons.
Beware, dragons. You don't know what you're up against.
Showing posts with label Genetics. Show all posts
Showing posts with label Genetics. Show all posts
Tuesday, May 21, 2013
Monday, April 22, 2013
Results. Finally.
Lucy's mutation is a de novo mutation. Unfortunately, this may mean that her Dravet Spectrum disorder may be worse -- but on the bright side, we do know that other people in the family that plan on spawning have little to worry about.
Friday, April 12, 2013
Sunday, April 7, 2013
Conspiracy theorists and nutjobs
Well, I have news, but it is not news.
I sent an email to the genetics counselor, and she let me know that the tests are done, and the report is being finalized, and they will be sending the results along next week.
So . . . to me it sounds like she knows something, and isn't telling. Or am I now the conspiracy theorist?
And, my husband's family came to visit last week. They were on the road longer than they actually visited. I will explain:
They are in ill health. Very. My sister-in-law doesn't walk (and yes, that is the correct word) and my mother-in-law has a lot of problems walking, and my father-in-law has mental health issues and no teeth and is in failing health. None of them can drive long distances, and we live 7.5 hours away.
In their town, there is a small town hospital. And 45 minutes away, there is a Baptist hospital, which is actually the first hospital we ever took Lucy to when she was seizing. The doctor there didn't even bother to examine her -- he listened to us and told us to put her in the car and take her 90 minutes by car to the University hospital, because there was nothing he or anything closer could do. And the ambulance was out on a call and would be too long to get us there. So we won't go to them, because we can't get Lucy to adequate medical care in adequate time. (To add it all together, Lucy is 2:15 from a decent hospital at their house.)
We offered to meet them halfway at a town with a decent emergency room.
And then, they said they wanted to come to us Easter weekend. Friday night to Sunday midday. So we said, "okay." And then they said they got rooms at a local motel which I won't name but rest assured I tried to tell my husband to get them to go elsewhere.
They would not. It is a sad, sad, place. Okay, it's a shithole.
So they arrive on Friday. (They make my 22-year-old nephew drive them. Poor guy.) We meet them at Cracker Barrel. We eat. They want us to come to their room. We discover that the manager has offered them a hell of a deal: You four pack yourself into one room with two double beds and it'll be the one room charge plus $10. They can't pass it up.
We convince them to come to our house, because Lucy will be much more comfortable. My SIL still says she cannot walk at all and therefore cannot navigate the stairs to the living room so she drives her Jazzy to the playroom. We all sit in Lucy's playroom. It's so fun.
The next morning, we have planned to go to the park so Lucy can enjoy the ducks, the Easter Bunny, have her face painted, and look at the kids.
Travis gets a text Saturday morning that they want to leave asap. The room is uncomfortable. Nobody slept.
So we go to the park (it's packed, natch) and they won't get out. I tell Travis that we'll try it next year, because I don't want to be rude to our guests but jeeeeez. So we come back to the house and we all sit in Lucy's playroom again. It's so fun. (This time, however, my sister-in-law WALKS into the house. It's an Easter miracle.)
Because it's also my mother-in-law's birthday, we do lunch. We can't go out, obviously, because they won't go anywhere, so we have to bring lunch to them. As options are now limited, we are left with Pizza Hut and Papa Johns. We ask if anyone has a preference and they all say they don't care. I opt for Pizza Hut because Lucy does have a preference.
The pizza shows up and my nephew begins mentioning how much better Papa Johns is. Lunch is just uncomfortable for everyone. Travis and I surprised my mother-in-law with a cake. My sister-in-law, the best and most awesome peach that ever lived, posted a picture to her FB page as though she bought the cake herself.
And then they left. Fortunately, Lucy is not yet old enough to understand, I hope, that they did something hurtful. But I am going to have to be a little more diligent about protecting her from this in the future.
And there you have your nutjobs. Also your assholes.
I sent an email to the genetics counselor, and she let me know that the tests are done, and the report is being finalized, and they will be sending the results along next week.
So . . . to me it sounds like she knows something, and isn't telling. Or am I now the conspiracy theorist?
And, my husband's family came to visit last week. They were on the road longer than they actually visited. I will explain:
They are in ill health. Very. My sister-in-law doesn't walk (and yes, that is the correct word) and my mother-in-law has a lot of problems walking, and my father-in-law has mental health issues and no teeth and is in failing health. None of them can drive long distances, and we live 7.5 hours away.
In their town, there is a small town hospital. And 45 minutes away, there is a Baptist hospital, which is actually the first hospital we ever took Lucy to when she was seizing. The doctor there didn't even bother to examine her -- he listened to us and told us to put her in the car and take her 90 minutes by car to the University hospital, because there was nothing he or anything closer could do. And the ambulance was out on a call and would be too long to get us there. So we won't go to them, because we can't get Lucy to adequate medical care in adequate time. (To add it all together, Lucy is 2:15 from a decent hospital at their house.)
We offered to meet them halfway at a town with a decent emergency room.
And then, they said they wanted to come to us Easter weekend. Friday night to Sunday midday. So we said, "okay." And then they said they got rooms at a local motel which I won't name but rest assured I tried to tell my husband to get them to go elsewhere.
They would not. It is a sad, sad, place. Okay, it's a shithole.
So they arrive on Friday. (They make my 22-year-old nephew drive them. Poor guy.) We meet them at Cracker Barrel. We eat. They want us to come to their room. We discover that the manager has offered them a hell of a deal: You four pack yourself into one room with two double beds and it'll be the one room charge plus $10. They can't pass it up.
We convince them to come to our house, because Lucy will be much more comfortable. My SIL still says she cannot walk at all and therefore cannot navigate the stairs to the living room so she drives her Jazzy to the playroom. We all sit in Lucy's playroom. It's so fun.
The next morning, we have planned to go to the park so Lucy can enjoy the ducks, the Easter Bunny, have her face painted, and look at the kids.
Travis gets a text Saturday morning that they want to leave asap. The room is uncomfortable. Nobody slept.
So we go to the park (it's packed, natch) and they won't get out. I tell Travis that we'll try it next year, because I don't want to be rude to our guests but jeeeeez. So we come back to the house and we all sit in Lucy's playroom again. It's so fun. (This time, however, my sister-in-law WALKS into the house. It's an Easter miracle.)
Because it's also my mother-in-law's birthday, we do lunch. We can't go out, obviously, because they won't go anywhere, so we have to bring lunch to them. As options are now limited, we are left with Pizza Hut and Papa Johns. We ask if anyone has a preference and they all say they don't care. I opt for Pizza Hut because Lucy does have a preference.
The pizza shows up and my nephew begins mentioning how much better Papa Johns is. Lunch is just uncomfortable for everyone. Travis and I surprised my mother-in-law with a cake. My sister-in-law, the best and most awesome peach that ever lived, posted a picture to her FB page as though she bought the cake herself.
And then they left. Fortunately, Lucy is not yet old enough to understand, I hope, that they did something hurtful. But I am going to have to be a little more diligent about protecting her from this in the future.
And there you have your nutjobs. Also your assholes.
Tuesday, April 2, 2013
This is my last nerve.
Still no results. Also, they are coming for our EDCD screening tomorrow, and so I am nervous, and also today I am having a root canal, so the title of this post is marvelously apropos.
This is a big pile of whine.
I hate having people in my house, and I hate paperwork, and I really hate root canals, I think -- except I've never had one.
This is a big pile of whine.
I hate having people in my house, and I hate paperwork, and I really hate root canals, I think -- except I've never had one.
Friday, March 29, 2013
It's not 5:00 here,
but if you're judging me and my glass of Pinot Evil, then you and I are not friends.
Lulu screamed for three hours before she finally fell asleep three minutes ago.
And my in-laws are coming this weekend. They don't understand toddlers, but they want to visit with Lucy.
On an average day, Lucy falls asleep for afternoon nap somewhere between 1 and 3. Today at 1, she was yawning and rubbing her eyes, so I put her down. She screamed for 3 SOLID FREAKING HOURS. My ears are still ringing.
We had told the in-laws that she normally can't last much beyond 5:30 for her dinner (and normally she can't) but as she just now made it to sleep at 4pm, I doubt she'll wake before 5:15.
AND they're here.
Well, not HERE. They're at their hotel. And I am negotiating with Travis about whether to wake her at 5 or let her sleep a little and tell the people who don't speak toddler why the schedule has suddenly changed.
Also, no results. I am quite disappointed.
Lulu screamed for three hours before she finally fell asleep three minutes ago.
And my in-laws are coming this weekend. They don't understand toddlers, but they want to visit with Lucy.
On an average day, Lucy falls asleep for afternoon nap somewhere between 1 and 3. Today at 1, she was yawning and rubbing her eyes, so I put her down. She screamed for 3 SOLID FREAKING HOURS. My ears are still ringing.
We had told the in-laws that she normally can't last much beyond 5:30 for her dinner (and normally she can't) but as she just now made it to sleep at 4pm, I doubt she'll wake before 5:15.
AND they're here.
Well, not HERE. They're at their hotel. And I am negotiating with Travis about whether to wake her at 5 or let her sleep a little and tell the people who don't speak toddler why the schedule has suddenly changed.
Also, no results. I am quite disappointed.
Thursday, March 28, 2013
So . . .
So we still have no genetics results, and it's still bumming me out, and I'm still wading through this paperwork which if I was being totally honest with myself (and if I wasn't kind of reeling from the seizures of the last 4-5 days) should have been done already but I'm having a hard time focusing. Also, I do not want to have to call the geneticist (she told us to call if we hadn't heard by the end of March, and my agoraphobia is kind of ramping up a lot lately, so I'm loathe to make phone calls or make unnecessary trips.)
Really, this post is just to say that I hate everything. Except Lucy, Travis, and you.
Really, this post is just to say that I hate everything. Except Lucy, Travis, and you.
Wednesday, March 27, 2013
A purple rumination.
Yesterday was Purple Day, and I was overwhelmed by the love. Before I get into the negativity, and while I'm on the love, I can tell there are some new readers (because I'm obsessive and check my stats a lot) and you should know you're welcome. You should also know that you're welcome to comment. A lot of my friends have been making it a habit to email their comments to me, probably because of that post about not telling anyone on Facebook yet. But as you'll see, I should be out pretty soon -- people at work already know about Lucy's diagnosis, for the most part. Anyway, when I revamped this blog and decided that I'd start writing about Dravet, I opened up the comment section so that pretty much anyone could comment on the blog. I felt (and still kind of feel) alone out here, and if that's you too, come on and have a virtual cup of coffee. Comments are always welcome and appreciated. Unless, of course, all you want to do is swear at me.
Of course, there was a lot of love, anyway. The Supreme Court is finally hearing the marriage equality cases, and so there was love, love, love all over facebook. It was red and purple everywhere I looked.
Unfortunately, I kept having a bad feeling about March 26. I had decided to make it a day of celebration, simply because I decided that bad feelings, unless you are my psychic sister, are hooey.
So I started my Facebook Advocacy posts (those were fun) and got our purple outfits, and a cake, and Travis and I had a special lunch and talked about how our special kid made us a special family -- stronger, wiser, and tougher.
We did not, however, mention that it also made us more anxiety-driven and obssessive-compulsive. But you only have to look at my "Doomsday Preppers" posts to know that.
Anyway, the bad feeling didn't go away. I fully expected to finally get our remaining genetics tests and finally come "out" on Facebook. As it is bad either way, I felt like it would explain my feeling (de novo mutation = worse for Lucy; inherited mutation = better for Lucy, one of us has some guilt.) However, they didn't come.
But then, last night, we were all in her room. Travis and I were both cuddled on the big beanbag, and we were reading to Lucy. She was sitting on the floor, looking at us, and then she did it -- the same kind of posturing we saw this time last year. It is what we read about here (scroll down to myoclonic seizures) and it is hella scary for us because we actually cannot say it was anything else. We were both looking at her straight on. She wasn't doing anything else, and it just pulled her into a totally unnatural position and squished her little face all up.
It pisses me off to no end, because the doctors at the Hospital We Try Not To Go To But Sometimes End Up At In An Emergency Because It's Closer discounted these a year ago and then told me she didn't have epilepsy and tried to start weaning her off all of her antiepileptic drugs and then caused a REALLY BIG SCARY SEIZURE because she was, obviously, on far too low a dose of her AED. It's really hard to get these on video because they happen so super-fast. If you blink, they're over.
This, of course, is coming on top of the super-scary events of Monday: I had to go to a doctor's appointment at 4:00. Travis had to work until 4:30 (he works at home, so he is literally right down a flight of stairs). I wiggled Lucy's naps back and got her to sleep at 3:30, so I knew she'd be asleep until at least 4:30. I'm a hero.
I take Travis the baby monitor. I go to the doctor.
I return from the doctor at 5. Lucy is still asleep. She wakes up as Travis and I come up the stairs. We hear one cry, and then it appears she goes back to sleep.
When we go to get her from the crib (bedtime is between 7 and 8, so we don't need her to sleep too much past 5) she is markedly postictal. Speech is slurred. Eyes at half-mast. She's in a fetal position, and doesn't want to come out of it. Is disoriented. Can't sit up. Her feet and hands are purplish.
We missed an EFFING SEIZURE.
Of course, there was a lot of love, anyway. The Supreme Court is finally hearing the marriage equality cases, and so there was love, love, love all over facebook. It was red and purple everywhere I looked.
Unfortunately, I kept having a bad feeling about March 26. I had decided to make it a day of celebration, simply because I decided that bad feelings, unless you are my psychic sister, are hooey.
So I started my Facebook Advocacy posts (those were fun) and got our purple outfits, and a cake, and Travis and I had a special lunch and talked about how our special kid made us a special family -- stronger, wiser, and tougher.
We did not, however, mention that it also made us more anxiety-driven and obssessive-compulsive. But you only have to look at my "Doomsday Preppers" posts to know that.
Anyway, the bad feeling didn't go away. I fully expected to finally get our remaining genetics tests and finally come "out" on Facebook. As it is bad either way, I felt like it would explain my feeling (de novo mutation = worse for Lucy; inherited mutation = better for Lucy, one of us has some guilt.) However, they didn't come.
But then, last night, we were all in her room. Travis and I were both cuddled on the big beanbag, and we were reading to Lucy. She was sitting on the floor, looking at us, and then she did it -- the same kind of posturing we saw this time last year. It is what we read about here (scroll down to myoclonic seizures) and it is hella scary for us because we actually cannot say it was anything else. We were both looking at her straight on. She wasn't doing anything else, and it just pulled her into a totally unnatural position and squished her little face all up.
It pisses me off to no end, because the doctors at the Hospital We Try Not To Go To But Sometimes End Up At In An Emergency Because It's Closer discounted these a year ago and then told me she didn't have epilepsy and tried to start weaning her off all of her antiepileptic drugs and then caused a REALLY BIG SCARY SEIZURE because she was, obviously, on far too low a dose of her AED. It's really hard to get these on video because they happen so super-fast. If you blink, they're over.
This, of course, is coming on top of the super-scary events of Monday: I had to go to a doctor's appointment at 4:00. Travis had to work until 4:30 (he works at home, so he is literally right down a flight of stairs). I wiggled Lucy's naps back and got her to sleep at 3:30, so I knew she'd be asleep until at least 4:30. I'm a hero.
I take Travis the baby monitor. I go to the doctor.
I return from the doctor at 5. Lucy is still asleep. She wakes up as Travis and I come up the stairs. We hear one cry, and then it appears she goes back to sleep.
When we go to get her from the crib (bedtime is between 7 and 8, so we don't need her to sleep too much past 5) she is markedly postictal. Speech is slurred. Eyes at half-mast. She's in a fetal position, and doesn't want to come out of it. Is disoriented. Can't sit up. Her feet and hands are purplish.
We missed an EFFING SEIZURE.
Thursday, March 14, 2013
MINUTES LIKE HOURS YOU GUYS!!!!!
I'm going nuts.
Seriously.
I wait every day for the freakin'mail-woman, and then she has the nerve to only bring me a catalog and a pizza flyer!!!!!
BRING ME MY TEST RESULTS DAGGONE IT!!!
In the meantime, I am working my way through the EDCD Waiver. And the Medicaid application. The application is 18 pages long.
My college applications weren't that long.
Seriously.
I wait every day for the freakin'mail-woman, and then she has the nerve to only bring me a catalog and a pizza flyer!!!!!
BRING ME MY TEST RESULTS DAGGONE IT!!!
In the meantime, I am working my way through the EDCD Waiver. And the Medicaid application. The application is 18 pages long.
My college applications weren't that long.
Tuesday, February 26, 2013
Just one more month?
So, we got swabbed yesterday.
And apparently, because they're only checking for the exact mutation that Lulu has, we'll have results in a month. Wow.
And, of course, like all other people who like to pretend to know what it's like to live my life without never actually lived it, the genetic counselor actually told us to make an emergency plan.
LIKE I DON'T HAVE ONE. PLEASE.
Also, as I do EVERY MOTHERLOVING TIME a person in a lab coat (or, in this case, in close proximity to a person in a lab coat) I pointed out that I can't tell an emergency room doctor what to do.
Or, rather, that I can try, but they will never, ever, ever, ever (you picking this up, Taylor Swift?) listen to me.
So, they promised to write a letter that I can carry with me that explains what drugs not to use on Lulu. It's better, but I'm not convinced that this is awesome because it's an EMERGENCY. Who has time to read a letter?
So, anyway, that has inspired me to start a series on this blog called "emergency preparedness" for the parents of twitchy kids.
Yes, I know the four of you who read this blog don't have twitchy kids. But one day, I hope that some mom who is just at her wit's end will stumble across me and find a little sanity and humor in the great land of epilepsy management.
Also, some possible bad news/good news/good news? I think Lucy had a seizure today.
That's the bad news. The good news? That I'm not sure. See, normally, Lucy's seizures are like being in labor (if you think you're in labor, you are not in labor. You will KNOW when you are in labor. So will everybody in a -mile radius. But I digress.) But today, she stilled (tonic) and then her left leg began a rhythmic movement, just for about 7 seconds (partial focal seizure?) and then (good news again) IT STOPPED ON ITS OWN. Which is awesome. Lucy's seizures, like, never do that.
And apparently, because they're only checking for the exact mutation that Lulu has, we'll have results in a month. Wow.
And, of course, like all other people who like to pretend to know what it's like to live my life without never actually lived it, the genetic counselor actually told us to make an emergency plan.
LIKE I DON'T HAVE ONE. PLEASE.
Also, as I do EVERY MOTHERLOVING TIME a person in a lab coat (or, in this case, in close proximity to a person in a lab coat) I pointed out that I can't tell an emergency room doctor what to do.
Or, rather, that I can try, but they will never, ever, ever, ever (you picking this up, Taylor Swift?) listen to me.
So, they promised to write a letter that I can carry with me that explains what drugs not to use on Lulu. It's better, but I'm not convinced that this is awesome because it's an EMERGENCY. Who has time to read a letter?
So, anyway, that has inspired me to start a series on this blog called "emergency preparedness" for the parents of twitchy kids.
Yes, I know the four of you who read this blog don't have twitchy kids. But one day, I hope that some mom who is just at her wit's end will stumble across me and find a little sanity and humor in the great land of epilepsy management.
Also, some possible bad news/good news/good news? I think Lucy had a seizure today.
That's the bad news. The good news? That I'm not sure. See, normally, Lucy's seizures are like being in labor (if you think you're in labor, you are not in labor. You will KNOW when you are in labor. So will everybody in a -mile radius. But I digress.) But today, she stilled (tonic) and then her left leg began a rhythmic movement, just for about 7 seconds (partial focal seizure?) and then (good news again) IT STOPPED ON ITS OWN. Which is awesome. Lucy's seizures, like, never do that.
Wednesday, February 13, 2013
An addendum to yesterday's post
So, as I had to hurriedly finish yesterday, as naptime was not half as long as I expected (or hoped), I am planning to tell my cousin and family. I just want to have all the information before I do. I don't want to start the conversation with "Hey, cuz, your kid may be a ticking time bomb, but I'll be able to tell you more in three months after the lab gets my results back, try not to worry until then."
My sarcasm is veiling some anxiety. I do not actually want to have this conversation with my cousin, because I really don't want to have to bring bad news. I'd rather be able to call her up and say "Lucy has a genetic condition, but it's only her. So you don't have to worry unless you really want to."
Tuesday, February 12, 2013
Why I don't tell Facebook.
1. Nobody at work knows about this blog yet.
2. My cousin the germophobe who stays home with her baby also doesn't know about this blog yet.
3. My mom's best friend is my facebook friend.
So let's go one at a time here:
1. Nobody at work knows about this blog. Let's take a purely practical stance here. I live 45 minutes from the shitty hospital with a PICU and 90 minutes from the good hospital where our neurologist is based with a PICU. Every single time Lucy goes into status, we get airlifted to one of these hospitals. It costs us approximately one year's salary for each flight. Our insurance has been awesome about covering this, but there's a couple of things we worry about: (1) we have a $2 million/year cap which at some point we might actually meet because of this; and 2. remember I said the closest hospital is shitty? We have to try to convince the local ER doctor to send us farther away to the good hospital, and I'm not always successful. The last time we were there, the doctors not only tried to kill Lucy themselves, but then they tried to instruct us to kill her. So we might need to move to put us closer to the better hospital, which will mean that I might need to not go back to work. Please don't tell my boss.
2. My cousin is a germophobe who stays home with her kid. Her kid who is the EXACT same age as Lucy. Hold onto that thought for a moment, and consider this one: DSDs are genetic disorders. Sometimes they are de novo (which means that Lucy's genes broke themselves) or sometimes they are inherited. So we are going back for some parental cheek-swabbing in a few weeks. Our google-researching tells us that if it's inherited it's better for Lucy. However, I've been told that my cousin's kid has never had a fever. Since Davet's frequently presents as febrile seizures, I'm a little freaked out by this. So I can't say "Dravet" on facebook, because I don't need her googling yet.
3. My mom's best friend is my facebook friend. And my mom thinks she's a doctor who can solve this by rereading medical textbooks from 1964. I'm not ready to say "Dravet" to mom yet, because I'm not ready to tell her what it means yet. But I suspect it's coming, because I'm getting tired of telling people that Lucy's last seizure is not her last seizure, if you get my drift. And the final reason, ultimately: our neurologist, who really is awesome, isn't nailing down a diagnosis yet. Lucy has an SCN1A mutation. We know that. I've had a professional come to the house and look at her, and I know that Lucy has some significant gross and fine motor delays. I also know that intellectually and verbally, she's doing fine. She has a huge vocabulary (between 75-150 words) uses simple sentences, follows some 2- and 3-step commands, and is even starting to use pronouns.
Dravet is a scary thing to say. Any of the diagnoses are scary. When they first told us she had a seizure disorder, that is all I would say. I couldn't bring myself to say epilepsy, because that sounded worse. It also made it true. I don't know if I'm ready for this to be true. This is a link to a video about a girl with Dravet's called Ciara's Light. Some seizures are shown, so it can be pretty upsetting. Also, the mother discusses the possibility of SUDEP, which every episode of status seems to make more possible, along with the terrible possibility of death during a seizure.
2. My cousin the germophobe who stays home with her baby also doesn't know about this blog yet.
3. My mom's best friend is my facebook friend.
So let's go one at a time here:
1. Nobody at work knows about this blog. Let's take a purely practical stance here. I live 45 minutes from the shitty hospital with a PICU and 90 minutes from the good hospital where our neurologist is based with a PICU. Every single time Lucy goes into status, we get airlifted to one of these hospitals. It costs us approximately one year's salary for each flight. Our insurance has been awesome about covering this, but there's a couple of things we worry about: (1) we have a $2 million/year cap which at some point we might actually meet because of this; and 2. remember I said the closest hospital is shitty? We have to try to convince the local ER doctor to send us farther away to the good hospital, and I'm not always successful. The last time we were there, the doctors not only tried to kill Lucy themselves, but then they tried to instruct us to kill her. So we might need to move to put us closer to the better hospital, which will mean that I might need to not go back to work. Please don't tell my boss.
2. My cousin is a germophobe who stays home with her kid. Her kid who is the EXACT same age as Lucy. Hold onto that thought for a moment, and consider this one: DSDs are genetic disorders. Sometimes they are de novo (which means that Lucy's genes broke themselves) or sometimes they are inherited. So we are going back for some parental cheek-swabbing in a few weeks. Our google-researching tells us that if it's inherited it's better for Lucy. However, I've been told that my cousin's kid has never had a fever. Since Davet's frequently presents as febrile seizures, I'm a little freaked out by this. So I can't say "Dravet" on facebook, because I don't need her googling yet.
3. My mom's best friend is my facebook friend. And my mom thinks she's a doctor who can solve this by rereading medical textbooks from 1964. I'm not ready to say "Dravet" to mom yet, because I'm not ready to tell her what it means yet. But I suspect it's coming, because I'm getting tired of telling people that Lucy's last seizure is not her last seizure, if you get my drift. And the final reason, ultimately: our neurologist, who really is awesome, isn't nailing down a diagnosis yet. Lucy has an SCN1A mutation. We know that. I've had a professional come to the house and look at her, and I know that Lucy has some significant gross and fine motor delays. I also know that intellectually and verbally, she's doing fine. She has a huge vocabulary (between 75-150 words) uses simple sentences, follows some 2- and 3-step commands, and is even starting to use pronouns.
Dravet is a scary thing to say. Any of the diagnoses are scary. When they first told us she had a seizure disorder, that is all I would say. I couldn't bring myself to say epilepsy, because that sounded worse. It also made it true. I don't know if I'm ready for this to be true. This is a link to a video about a girl with Dravet's called Ciara's Light. Some seizures are shown, so it can be pretty upsetting. Also, the mother discusses the possibility of SUDEP, which every episode of status seems to make more possible, along with the terrible possibility of death during a seizure.
Tuesday, February 5, 2013
What? I'm back.
And where to begin?
I guess with some of the big stuff I don't tell Facebook. Let's go ahead and open Pandora's box. Lu has a Dravet Spectrum Disorder. On facebook, we call it a "genetic mutation" that causes her epilepsy. We call it this because we haven't yet completed the testing that will tell us if it is a de novo mutation (a new mutation that occurred in Lucy alone) or an inherited mutation from one of us. Kind people, some of whom are related to me, keep telling me that they are sure that one day she will outgrow these seizures.
It will never happen.
Lucy will have seizures her entire life. This syndrome will affect every aspect of her life. 20% of the individuals diagnosed with these disorders do not live to see their 18th birthday. I can't find statistics for life expectancy beyond that -- but I have yet to read about a Dravet patient living into his or her 80s.
Lucy is already experiencing some pretty severe motor delays. She has some obvious immune disregulation, though we haven't and probably cannot back that up with science. I took her to Lowe's for 20 minutes over the weekend. I wiped the cart with Lysol wipes and used the cart cover. I didn't let her touch anything and stayed 10 feet away from all people, including the checkout person. She now has a cold. I am home with her now, on leave from work, though I can't guarantee how long that will happen. Because of Lucy's fragile immune system, we're not sure if it's safe to put her back in daycare; or if it will be safe to expose her to the germs I could bring home; or if it will be safe to bring another person into the bubble to be her nanny. There are so many uncertainties -- it's hard to make the right decisions.
In Greek and Roman myth, hope was at the bottom of Pandora's box. We think of this as a gift -- after all of the awfulness, a ray of light. I suppose that could make sense -- Lucy's name, after all, comes from the Latin word for light, "lux." However, the ancients would have recognized hope as the cruelest of the punishments in Pandora's box. Hope allows for the idea that life might change -- that things might get better. The cruelest part of Dravet's is what it ultimately takes away -- the child you had. You see, children with Dravet's often develop mostly normally for the first 2 years of their lives, and then they begin to regress. When we look at our little light, we often wonder if we might lose her. Slowly. A little at a time.
I guess with some of the big stuff I don't tell Facebook. Let's go ahead and open Pandora's box. Lu has a Dravet Spectrum Disorder. On facebook, we call it a "genetic mutation" that causes her epilepsy. We call it this because we haven't yet completed the testing that will tell us if it is a de novo mutation (a new mutation that occurred in Lucy alone) or an inherited mutation from one of us. Kind people, some of whom are related to me, keep telling me that they are sure that one day she will outgrow these seizures.
It will never happen.
Lucy will have seizures her entire life. This syndrome will affect every aspect of her life. 20% of the individuals diagnosed with these disorders do not live to see their 18th birthday. I can't find statistics for life expectancy beyond that -- but I have yet to read about a Dravet patient living into his or her 80s.
Lucy is already experiencing some pretty severe motor delays. She has some obvious immune disregulation, though we haven't and probably cannot back that up with science. I took her to Lowe's for 20 minutes over the weekend. I wiped the cart with Lysol wipes and used the cart cover. I didn't let her touch anything and stayed 10 feet away from all people, including the checkout person. She now has a cold. I am home with her now, on leave from work, though I can't guarantee how long that will happen. Because of Lucy's fragile immune system, we're not sure if it's safe to put her back in daycare; or if it will be safe to expose her to the germs I could bring home; or if it will be safe to bring another person into the bubble to be her nanny. There are so many uncertainties -- it's hard to make the right decisions.
In Greek and Roman myth, hope was at the bottom of Pandora's box. We think of this as a gift -- after all of the awfulness, a ray of light. I suppose that could make sense -- Lucy's name, after all, comes from the Latin word for light, "lux." However, the ancients would have recognized hope as the cruelest of the punishments in Pandora's box. Hope allows for the idea that life might change -- that things might get better. The cruelest part of Dravet's is what it ultimately takes away -- the child you had. You see, children with Dravet's often develop mostly normally for the first 2 years of their lives, and then they begin to regress. When we look at our little light, we often wonder if we might lose her. Slowly. A little at a time.
Subscribe to:
Posts (Atom)
