Chad and I decided several weeks ago to schedule an appointment for Lucy to see a pediatric neurologist in New York City that specializes in Rett Syndrome. To begin with, the appointment is on March 30th! This woman insists on getting newly diagnosed patients in as soon as she can to help create a plan for her and to give her family as much information, support, guidance, etc. as she can. So immediately it is pretty clear that she is passionate about helping families diagnosed with Rett Syndrome. I have been working with an intake girl from the Rett clinic where the doctor is located and after two phone calls to medical assistance it was confirmed that they will not cover any of The visit because Dr. Djukic does not have a provider number. But we said we were still going, even though the fee...out of our pocket now, would be $1215.00. People that love and care for us, over the course of two weeks, donated $850.00 to help pay for the appointment. We have never asked for any help and are so lucky to have these good people in our lives that are just willing to help!
Then, this week the intake girl called to confirm our appointment and to confirm that we would be paying privately. Her and I got to chatting since she also has a daughter with Rett Syndrome and then after some advice on driving in the city traffic, we hung up. About 20 minutes later she called back to tell me that the doctor decided to reduce our fee by 30% making it..$850.00! The exact amount of money we have already! And then that night Chad's dad called and offered to drive us to the appointment because he used to drive garbage to New York City and isn't afraid of driving like Chad and I are! He is going to take two days off of work to chauffeur us! Chad was instantly relieved to not have to drive us himself and we were so touched by Barry's thoughtfulness.
Plus, we have decided now to start working on building a modular house on land generously given to us by my parents that is behind their house and they have been right on the ball at getting people in line to do the things that need to be done to get the land ready. Dad found free shale, a friend of his is bringing a bulldozer to make a road, and another friend is planning on doing the basement for us! They have to call people, have it surveyed, etc. and like the day after we told them our plans they were on it.
I believe, and have always believed that people are inherently good. Chad and I are fortunate enough to be surrounded by friends and family that are outwardly good and we have always known that, but then they still will even surprise us at how kind, generous, and thoughtful they can be. So this stupid, heartbreaking thing has happened to us, but then people just do nice things to help us and support us, and assist us in providing Lucy with the best care that we possibly can. I don't even know what to say to explain how grateful we are to everyone. So even in this unfortunate situation, we have still found fortune at every turn from so many different places.
Lucy
Friday, March 23, 2012
Tuesday, March 20, 2012
Snarling like a leopard
For as long as I have been having dreams, I have occasionally had these two different kinds: one where I can only open my eyes for a few seconds at a time and then I have to close them and another where I am trying and trying to get some where, but my feet feel like they are slogging through cement or quicksand or something. I would have to say that the feelings I have often experienced during those dreams pretty accurately describe how I have felt since we received Lucy's diagnosis. Those feelings include: frustration (obviously), anger, confusion, hope (like when I would get a few peaks from my opened eyes), feeling lost, terror, more anger, sadness that I will not even try to explain, determination, anxiety...and yet more anger.
After joining the International Rett Syndrome Foundation, they sent us (free of charge!) the Rett Syndrome Handbook which literally is about two inches thick. There is just so much information that I don't even know where to begin and so I just choose a section at a time and read it and learn about yet another aspect of this stupid freaking thing that is taking over my sweet Lu. And this disorder effects her entire body, every aspect of her life, so I am still frantic all of the time trying to figure out what we need to do and where we need to go from here. She needs to start experiencing and experimenting with communication devices, but I feel like we also need to focus on getting her walking as soon as possible to increase her chances of staying upright and mobile. But there is so much to know and unfortunately our wonderful therapists and pediatrician do not know much and so I am left to search through this book and talk to others that do know more and then share it with everyone else. And all the while I feel like I'm partially blind and I can't get my feet to move!
Another, slightly more drastic feeling that I experience (a little more often than I would prefer) is that I am totally and completely going to just lose my mind. Like I could tear a room apart while screaming and snarling like a leopard. Thrashing about, breaking windows, smashing furniture...the whole 9 yards. I guess though luckily I think about it and maybe just wish that I could, a fantasy perhaps, but I'm not a destructive kind of gal, so I would feel so bad afterward, but geez I just want to annihilate something sometimes. As Lucy's cells were multiplying, shortly after conception,this mutation took place; that is how I understand it anyway. Man that pisses me off! It makes me so angry that it has been lurking in there all of this time and nobody knew! But it's certainly not done lurking! That's one of the hardest things about this is that she will just keep changing and losing her hand functioning. But when it will happen is uncertain. We are going to see a specialist on March 30th in New York City who will hopefully be able to give us a better idea of what stage she is in and what we can expect based on where the mutation is on her chromosome.
But what I do is just keep on keepin' on. Then I have a break down, rebuild, and trek on. What else can I do. Lu needs me to act as "normal" as I can. She needs me to feed her, love her, cuddle her, change her pants, sing to her in the tub, read her books...and make the best of Rett Syndrome. Chad and I are her big bats. Her super heroes (I'm probably Batman and he's probably Robin...although he does fund this operation...) Since I have made it back to Jazzercise, the whole time I think about how I need to be strong and healthy to take care of Lucy. We are her everything, but she is our everything too.
PS. I did not proofread this so I apologize for errors!
After joining the International Rett Syndrome Foundation, they sent us (free of charge!) the Rett Syndrome Handbook which literally is about two inches thick. There is just so much information that I don't even know where to begin and so I just choose a section at a time and read it and learn about yet another aspect of this stupid freaking thing that is taking over my sweet Lu. And this disorder effects her entire body, every aspect of her life, so I am still frantic all of the time trying to figure out what we need to do and where we need to go from here. She needs to start experiencing and experimenting with communication devices, but I feel like we also need to focus on getting her walking as soon as possible to increase her chances of staying upright and mobile. But there is so much to know and unfortunately our wonderful therapists and pediatrician do not know much and so I am left to search through this book and talk to others that do know more and then share it with everyone else. And all the while I feel like I'm partially blind and I can't get my feet to move!
Another, slightly more drastic feeling that I experience (a little more often than I would prefer) is that I am totally and completely going to just lose my mind. Like I could tear a room apart while screaming and snarling like a leopard. Thrashing about, breaking windows, smashing furniture...the whole 9 yards. I guess though luckily I think about it and maybe just wish that I could, a fantasy perhaps, but I'm not a destructive kind of gal, so I would feel so bad afterward, but geez I just want to annihilate something sometimes. As Lucy's cells were multiplying, shortly after conception,this mutation took place; that is how I understand it anyway. Man that pisses me off! It makes me so angry that it has been lurking in there all of this time and nobody knew! But it's certainly not done lurking! That's one of the hardest things about this is that she will just keep changing and losing her hand functioning. But when it will happen is uncertain. We are going to see a specialist on March 30th in New York City who will hopefully be able to give us a better idea of what stage she is in and what we can expect based on where the mutation is on her chromosome.
But what I do is just keep on keepin' on. Then I have a break down, rebuild, and trek on. What else can I do. Lu needs me to act as "normal" as I can. She needs me to feed her, love her, cuddle her, change her pants, sing to her in the tub, read her books...and make the best of Rett Syndrome. Chad and I are her big bats. Her super heroes (I'm probably Batman and he's probably Robin...although he does fund this operation...) Since I have made it back to Jazzercise, the whole time I think about how I need to be strong and healthy to take care of Lucy. We are her everything, but she is our everything too.
PS. I did not proofread this so I apologize for errors!
Tuesday, March 6, 2012
Trying to be heard
At Lucy's 9 month appointment last year with Dr. Kilian Brech I first shared my concerns regarding Lucy's motor development. He said sometimes kids just take longer,which I know is true. But then he said, "Yeah she definitely isn't winning any speed contests there. But I wouldn't run out and get her evaluated by Cen-Clear just yet." After a few weeks of thinking that I did think she needed evaluated and I didn't have to take his stupid, condescending advice, I did call early intervention, and even though she didn't qualify at the time, it helped to move things along three three months later when she did qualify. So that was my first experience with someone being dismissive of my concerns and reacting in a way that made me want to scream in their face. And quite honestly, many people I love and who have meant well, in addition to people I don't love and barely know, have all said things of this nature and made me feel like they were trying to help me understand that I was being ridiculous and over-reacting. But as it turns out, I wasn't and I knew I wasn't then! And I will never, ever, ever, for as long as I live, forget what Dr. Brech said and the attitude that he had.
I think people tend to react in a dismissive, maybe patronizing way when someone has a concern about their child for several reasons. Maybe they do see the same things and have the same concerns, but don't want to be alarmists, like they feel you are being. Also, seasoned parents, I have noticed, tend to like to brag about being slightly less observant, overprotective, etc. as they have each child and seem to want everyone to behave the same way, thus acting like you are a paranoid, coddling, freak for paying so much attention to your child. People probably act dismissive because what you are saying scares them, makes them sad, whatever, and they just want to ignore it. My goal here is not to launch an attack on people who tried to deter me from seeing Lu's troubles, but maybe just to deliver a big fat "I TOLD YOU SO." and to encourage people to think carefully before insinuating that a parent who has concerns, any type of concerns, regarding their child, is being unreasonable. I obviously take absolutely no joy in the "I told you so" as is usually the case when people get to say that, because I wish more than anything that everyone else was right and I was wrong.
But I'm going to tell you what, and I told Chad this the night we came home from the doctor's appointment; I think I have always known, in my gut, and in my heart that there was something more going on than "just" hypotonia and that whatever it was, was likely not something that was going to just go away. And because I had that strong feeling, it made people's dismissiveness that much more difficult to handle. And there are things people have said, just like Dr. Brech's comments, that will stay with me forever. Because I sat day in and day out trying to "fix" things and saw over and over again things that seemed to say, "Nope, you can't fix this." So I guess my point is just that it hurt when people didn't believe me and listen to me, because I was right. We have experts now to help us, but I am the expert on Lucille May Shaffer;I always have been and I always will be. I am the leading expert anyway, and Chad comes in a very close second due only to the fact that I spend more time with her while he's at work. So now we will have a "team" of people to help us decide how best to care for Lucy for probably the rest of her life, but Chad and I will always be the team leaders and we will always make the final decisions, and we always make sure that we are being heard, loud and clear.
I think people tend to react in a dismissive, maybe patronizing way when someone has a concern about their child for several reasons. Maybe they do see the same things and have the same concerns, but don't want to be alarmists, like they feel you are being. Also, seasoned parents, I have noticed, tend to like to brag about being slightly less observant, overprotective, etc. as they have each child and seem to want everyone to behave the same way, thus acting like you are a paranoid, coddling, freak for paying so much attention to your child. People probably act dismissive because what you are saying scares them, makes them sad, whatever, and they just want to ignore it. My goal here is not to launch an attack on people who tried to deter me from seeing Lu's troubles, but maybe just to deliver a big fat "I TOLD YOU SO." and to encourage people to think carefully before insinuating that a parent who has concerns, any type of concerns, regarding their child, is being unreasonable. I obviously take absolutely no joy in the "I told you so" as is usually the case when people get to say that, because I wish more than anything that everyone else was right and I was wrong.
But I'm going to tell you what, and I told Chad this the night we came home from the doctor's appointment; I think I have always known, in my gut, and in my heart that there was something more going on than "just" hypotonia and that whatever it was, was likely not something that was going to just go away. And because I had that strong feeling, it made people's dismissiveness that much more difficult to handle. And there are things people have said, just like Dr. Brech's comments, that will stay with me forever. Because I sat day in and day out trying to "fix" things and saw over and over again things that seemed to say, "Nope, you can't fix this." So I guess my point is just that it hurt when people didn't believe me and listen to me, because I was right. We have experts now to help us, but I am the expert on Lucille May Shaffer;I always have been and I always will be. I am the leading expert anyway, and Chad comes in a very close second due only to the fact that I spend more time with her while he's at work. So now we will have a "team" of people to help us decide how best to care for Lucy for probably the rest of her life, but Chad and I will always be the team leaders and we will always make the final decisions, and we always make sure that we are being heard, loud and clear.
Wednesday, February 29, 2012
The appointment
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.
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.
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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