On Monday we knew our life had become drastically different than we had ever imagined it would be. Today blew Monday completely out of the water. I feel strangely detached at the moment, like all of this is happening to someone else's daughter...like shock a little I guess. And I'm exhausted. I'm sure that I will certainly elaborate on the appointment and my thoughts and feeling etc. later on, but for right now I just want to relay the two main and most heartbreaking things we learned today from dear, kind Dr. Coffman. As we were beginning he said that some women with Rett syndrome have lived into their 40s. When I asked how long they generally live, he said twenties or thirties. No website said anything about this and he said because the websites shouldn't. As Lucy ages, she will continue to lose functioning throughout her body. The gene mutation causes the brain to deteriorate which causes health problems such as trouble breathing because the body is no longer able to function. The complete deterioration will hopefully take a long time, but he said she will eventually not be able to walk, if she is ever able to, talk,use her hands,etc. and once she loses the functioning of something, she will never regain it.
So, it seems like we have her for a limited time...we didn't know that before. I don't really know what else to say at this point.
Lucy
Wednesday, February 29, 2012
Monday, February 27, 2012
The phone call
Today Dr.Coffman, the neurologist from Pittsburg called and confirmed that Lucy does in fact have Rett Syndrome. It has been a very long and emotionally exhausting day, so I don't really feel like saying much, but here is a good site to visit for more information on the diagnosis:
www.rettsyndrome.org We have an appointment with the doctor on Wednesday afternoon to go over everything so I will try to do a real post after that some time.
www.rettsyndrome.org We have an appointment with the doctor on Wednesday afternoon to go over everything so I will try to do a real post after that some time.
Sunday, February 19, 2012
Maintaining
So this past Thursday marked 5 weeks since Lucy had her bloodwork drawn. We heard back about the blood part of her metabolic test and it was normal, but we have not yet heard about the urine part of the metabolic tests and not surprisingly we have heard nothing about the Angelman's test yet. And so as the title implies, we are just maintaining. Trying to get through each day without breaking out into a sobbing, hysterical mess of impatience. I have been surprisingly calm and I believe that just to make it through all of the waiting I need to stay that way. I haven't even written on here in two weeks because I think I am feeling like thinking too much could be too dangerous. I have teared up a little here and there, but nothing major.
I have a quote to share from one of the wisest books I've ever read and that I read to Lu often:
"But I've bought a big bat.
I'm all ready you see.
Now my troubles are going
To have troubles with ME!"
-Dr.Seuss, I Had Trouble In Getting To Solla Sollew
Something I have been thinking about a lot lately is Lucy's "big bats", me and Chad. Her troubles are going to have troubles with us! This past week I have literally felt like a bat that was constantly swinging at people who love us and mean well, but that often bombard me with feelings, advice, opinions, denial, etc. I have been noticing that while all three of Lucy's therapists are wonderful and competent, they often have varying opinions on what is appropriate for her and I am the one left to sort out how everyone feels and what is right. OT said she had heard that some speech therapists carry balls for bouncing kids on to help promote speech. Our primary speech therapist said she's never heard of such a thing. PT suggested a weighted vest and OT seemed to think that was a dumb idea. OT says some things are good for Lu to chew on and the feeding specialist says all different things for chewing! Sometimes people act like Chad and I are jumping to conclusions about the likeliness of Angelman's syndrome, even though a pediatric neurologist who specializes in movement and development said he feels it is what makes the most sense in his opinion, but he is of course not 100% sure. And so again, for all of my loved ones who read my blog, I know everyone means well, but I just get so overwhelmed sometimes by everything and everyone and this past week was one if those times. Do this, don’t do that, why do you think that, proclamations of sadness, try this, no don't try that, try this, well what does this mean...are you sure? I'm not freaking sure of anything yet!
I take that back, here some things I am very sure about: this week Lucy stood for a couple of very brief, but amazing seconds all by herself! Not even leaning on me or holding my hand! She also made the sign for book 5 times when asked during speech. And during Kindermusik when we were singing Giddy Up Horsey and everyone was raising their arms up, Lucy picked up on it too and was picking her arms up at the right time with only a tiny nudge under her armpits from me. All of those things are absolutely magical to Chad and I, even though they may seem small.
I know how much all of our friends and family cares for us and that they just want to help and the therapists too, and I don't mean for this post to be mean in any way. I'm just trying to express how difficult it is sometimes to not want to freak out at the volume of information, opinions, and instructions that are given to me on any given day. Personally, I think I'm hanging in there pretty well, not to toot my own horn. I just try to handle each day as it comes and do my best to hold my own amidst everyone else's thoughts. So as for being Lu's bat, I take that very seriously. I feel as her bats, one of our most important jobs is to think through very carefully any decisions that need to be made and decide for ourselves what we think is right and best for her and not simply just do what is most common or expected of us. Like she is in a fortress behind me and I stand at the drawbridge [bat in hand] and then I sift through what and who can and cannot go through. Chad too of course, but I am mainly in charge of the drawbridge while he is working. One at a time, slowly, with a lot of thought. And that is one of the most important parts of "maintaining" these days.
I have a quote to share from one of the wisest books I've ever read and that I read to Lu often:
"But I've bought a big bat.
I'm all ready you see.
Now my troubles are going
To have troubles with ME!"
-Dr.Seuss, I Had Trouble In Getting To Solla Sollew
Something I have been thinking about a lot lately is Lucy's "big bats", me and Chad. Her troubles are going to have troubles with us! This past week I have literally felt like a bat that was constantly swinging at people who love us and mean well, but that often bombard me with feelings, advice, opinions, denial, etc. I have been noticing that while all three of Lucy's therapists are wonderful and competent, they often have varying opinions on what is appropriate for her and I am the one left to sort out how everyone feels and what is right. OT said she had heard that some speech therapists carry balls for bouncing kids on to help promote speech. Our primary speech therapist said she's never heard of such a thing. PT suggested a weighted vest and OT seemed to think that was a dumb idea. OT says some things are good for Lu to chew on and the feeding specialist says all different things for chewing! Sometimes people act like Chad and I are jumping to conclusions about the likeliness of Angelman's syndrome, even though a pediatric neurologist who specializes in movement and development said he feels it is what makes the most sense in his opinion, but he is of course not 100% sure. And so again, for all of my loved ones who read my blog, I know everyone means well, but I just get so overwhelmed sometimes by everything and everyone and this past week was one if those times. Do this, don’t do that, why do you think that, proclamations of sadness, try this, no don't try that, try this, well what does this mean...are you sure? I'm not freaking sure of anything yet!
I take that back, here some things I am very sure about: this week Lucy stood for a couple of very brief, but amazing seconds all by herself! Not even leaning on me or holding my hand! She also made the sign for book 5 times when asked during speech. And during Kindermusik when we were singing Giddy Up Horsey and everyone was raising their arms up, Lucy picked up on it too and was picking her arms up at the right time with only a tiny nudge under her armpits from me. All of those things are absolutely magical to Chad and I, even though they may seem small.
I know how much all of our friends and family cares for us and that they just want to help and the therapists too, and I don't mean for this post to be mean in any way. I'm just trying to express how difficult it is sometimes to not want to freak out at the volume of information, opinions, and instructions that are given to me on any given day. Personally, I think I'm hanging in there pretty well, not to toot my own horn. I just try to handle each day as it comes and do my best to hold my own amidst everyone else's thoughts. So as for being Lu's bat, I take that very seriously. I feel as her bats, one of our most important jobs is to think through very carefully any decisions that need to be made and decide for ourselves what we think is right and best for her and not simply just do what is most common or expected of us. Like she is in a fortress behind me and I stand at the drawbridge [bat in hand] and then I sift through what and who can and cannot go through. Chad too of course, but I am mainly in charge of the drawbridge while he is working. One at a time, slowly, with a lot of thought. And that is one of the most important parts of "maintaining" these days.
Sunday, February 5, 2012
Milestones
I told my friend the other day that I haven't written anything on here for a bit because all I feel like doing is whining and I don't want my posts to just be me whining about how frustrating everything is. She said that she feels like in such a situation as this it doesn't really count as being whiny. I guess I agree, and I oddly I don't feel so whiny today and I have a hopefully unwhiny thought to share!
It occurred to me the other day that the times I really feel bad about Lucy being behind and about how differently she does things is when I compare her to other babies her age and I guess kids in general. I get the reason for developmental milestones and I appreciate them to a degree because they help you to know when to send up a red flag that something could be going on with your baby because they are maybe not meeting them. What I find hard, however, is the constant comparison (even from myself) of how she does things and how kids her age SHOULD be doing them. Well, Lucy does things in her own little way, and quite frankly there are still many things that she doesn't do at all and a whole bunch of other things that kids don't generally do. She hasn't reached a motor milestone since she learned to sit up...last January. And I don't even mean getting into sitting from laying, she needs assistance with that, but then can stay sitting up without falling down (most of the time). She has made progress, but has not actually reached one of those milestones which is worrisome. It is worrisome because the farther apart the gap gets between her chronological age and her developmental age, the more serious the situation gets. I guess maybe I wish I had the luxury of living in blissful ignorance where I have no idea about what babies "should" do and I could just 100% enjoy Lucy just how she is without constantly worrying about her being behind and the zillion things we need to do to catch her up.
So then I was talking with another friend whose son has quite a few special needs and she made the comment that the world has made him "mean" and that he is naturally sweet and kind, and loving. And see that's just what I am talking about. This mold, these milestones, the "norm", how society expects everybody to act the same and do the same things. And if you don't fit in, they will try to squeeze, push, and pinch you into what they think you should be until you come back swinging, just trying to defend all that is you. I want Lucy to be able to be just who and how she is without always worrying about how she isn't, and even doesn't already, fit in. At Kindermusik sometimes we dance in a circle and everybody is walking, but my Lu. Everybody claps and sings, but not Lu. But she does smile and laugh and move in her own very unique way. She swings her arms, rolls her head around, makes interesting hand gestures, and rocks a lot. Bout I know that the way she acts is different and people notice it, and I notice them noticing, but I love the way she is, because it is her and in my heart those stupid milestones can kiss my rump.
But unfortunately, every second, of every day, even if if I'm not actively thinking it, I am always wishing that she had annihilated those milestones and that she could just live a "normal" life without therapy, doctors appointments, feeding studies, hearing tests, urine sample bags, blood work, z vibes, nuk brushes, and all of the other crap that I have to subject her to on a regular basis. I wish she could just be a kid, doing kid stuff.
It occurred to me the other day that the times I really feel bad about Lucy being behind and about how differently she does things is when I compare her to other babies her age and I guess kids in general. I get the reason for developmental milestones and I appreciate them to a degree because they help you to know when to send up a red flag that something could be going on with your baby because they are maybe not meeting them. What I find hard, however, is the constant comparison (even from myself) of how she does things and how kids her age SHOULD be doing them. Well, Lucy does things in her own little way, and quite frankly there are still many things that she doesn't do at all and a whole bunch of other things that kids don't generally do. She hasn't reached a motor milestone since she learned to sit up...last January. And I don't even mean getting into sitting from laying, she needs assistance with that, but then can stay sitting up without falling down (most of the time). She has made progress, but has not actually reached one of those milestones which is worrisome. It is worrisome because the farther apart the gap gets between her chronological age and her developmental age, the more serious the situation gets. I guess maybe I wish I had the luxury of living in blissful ignorance where I have no idea about what babies "should" do and I could just 100% enjoy Lucy just how she is without constantly worrying about her being behind and the zillion things we need to do to catch her up.
So then I was talking with another friend whose son has quite a few special needs and she made the comment that the world has made him "mean" and that he is naturally sweet and kind, and loving. And see that's just what I am talking about. This mold, these milestones, the "norm", how society expects everybody to act the same and do the same things. And if you don't fit in, they will try to squeeze, push, and pinch you into what they think you should be until you come back swinging, just trying to defend all that is you. I want Lucy to be able to be just who and how she is without always worrying about how she isn't, and even doesn't already, fit in. At Kindermusik sometimes we dance in a circle and everybody is walking, but my Lu. Everybody claps and sings, but not Lu. But she does smile and laugh and move in her own very unique way. She swings her arms, rolls her head around, makes interesting hand gestures, and rocks a lot. Bout I know that the way she acts is different and people notice it, and I notice them noticing, but I love the way she is, because it is her and in my heart those stupid milestones can kiss my rump.
But unfortunately, every second, of every day, even if if I'm not actively thinking it, I am always wishing that she had annihilated those milestones and that she could just live a "normal" life without therapy, doctors appointments, feeding studies, hearing tests, urine sample bags, blood work, z vibes, nuk brushes, and all of the other crap that I have to subject her to on a regular basis. I wish she could just be a kid, doing kid stuff.
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