I went to a support group about a week ago. It's a little group up in SLC where a woman hosts a group of people and brings in a person to talk about a particular subject that the group is interested in per se. This woman, Anne, is a friend of my step mother-in-law. After this meeting I went up to her and introduced myself and Dallas and we began to chat. She had inquired if I had visited any of the online chats, which I haven't, i've browsed a little here and there and just lurked but haven't participated. She says one of the main topics of some of these chats are fatigue and if I had experienced this myself. I've never really fully recognized what i've been experienced as fatigue. To me its been normal but i've noticed the older I get the worse it gets. Apparently there really isn't much to do about it but I figure i've been living with it this long i'm used to it and it's not that big of a deal. I wish that I could take like and hour long to two hour long nap during midday and i'd be set to go. Some Saturdays when it's just go-go-go i'll sleep when Dallas sleeps and the remainder of the day is better.
Now Dallas is so funny. I can totally tell it affects her. The day after her birthday we went to 7 peaks waterpark in Provo. We got there about 11 and she hadn't had a nap that morning. She was such a trooper she lasted about until 2:30-3. By then she could hardly hold her head up. I can tell she's exhausted when i get her out of the car and she's still asleep until i lay her in her bed. That day she was asleep from 3 until 7 when I woke her up to get her something to eat and make sure she was doing alright. She lasted about half an hour and went right back to sleep. She slept until 7 the next morning when i woke her up to get her ready and take her up to her papa's house so he could watch her for the day while i was at work. He wasn't very happy when I came to pick her up. They love to play all day and he said that she was up for a total of 2 hours the entire day. I couldn't help but laugh. I had no idea the previous day would wipe her out that bad. She had actually fallen asleep on the way up to his house which is about 20 minutes away anyway. The days I go up there she's usually awake just looking out the window talking and laughing to herself. I think the fact that's she's just so little it takes more energy to fuel her and twice as long to recharge her. My sister has a little boy who is 3mo. younger and she envies how much more Dallas sleeps than her little boy. I get 12-13 hours a night out of her and she's lucky to get 6-8 out of her little boy. In a way it is nice because it allows more husband-wife time but less Dallas time when my time with her is so short anyway with me working. I just hope someday I can be a full-time mom so I can work with her, get her on a routine and be there for her. I think that that would be really good for her and for me.
Tuesday, November 22, 2011
Eating Troubles
We've had our troubles of eating. I still give her baby food and formula (for the nutrition she's not getting from not eating.) She likes to take the easy way out and just take a bottle its a faster full and takes less work. I had to fight her and fight her to make her eat. She is the most stubborn little girl already. I had to either make her eat real food or she would go hungry. I refused to give her a bottle. She would eat three bites and wouldn't take anymore and then whine and throw a tantrum reaching for the bottles she could see. So once she wouldn't take anymore we'd go play until she started to cry again. I knew she was still hungry. So we did it again with the food. Three bites and then the whining. We did this for a few days and finally she began to accept the food. I also had to hide the bottles so they weren't in plain sight anymore. Now I just give her a bottle before I put her to sleep just to satiate her, and help plump her up. I have found she likes the very plain and bland tasting food. She likes the meat or food with meat in it, more so the chicken. It funny how picky she can be already. My sister suggested maybe she craves the protein because she needs it to build the muscles. I think its a very valid point and could be.
She's in early intervention. They suggested maybe either her teeth hurt and that could be why she didn't eat or indigestion. My theory was when I brushed her teeth she didn't fuss so I don't think her teeth were the cause and I would just give her a bottle whenever she was hungry instead of trying to feed her, it was quicker and easier. I've learned to the easy way is probably not the best way. She does love to eat off our plates when I make dinner. I think it makes her feel more of a big girl to eat big people food, which could be a good thing.
At least I don't have to worry about her becoming obese. She won't eat if she's not hungry. I'm trying to learn from that.
She's in early intervention. They suggested maybe either her teeth hurt and that could be why she didn't eat or indigestion. My theory was when I brushed her teeth she didn't fuss so I don't think her teeth were the cause and I would just give her a bottle whenever she was hungry instead of trying to feed her, it was quicker and easier. I've learned to the easy way is probably not the best way. She does love to eat off our plates when I make dinner. I think it makes her feel more of a big girl to eat big people food, which could be a good thing.
At least I don't have to worry about her becoming obese. She won't eat if she's not hungry. I'm trying to learn from that.
The Pros.....
Obviously its not a very happy disease but there are some pros....although they're mostly for the parents and they're kind of selfish I can't quite get her point of view on these things just yet.
With the fatigue she sleeps at least 11-12 hours a night. She usually is down between 7-8 at her own request and without fail is up between 7-8 in the morning. So its definitely a pro for the parents. We get several hours at night to do whatever parents do.....even sometimes I get those several hours by myself. Being over a year old she still takes about 2 naps a day. The afternoon naps usually last 2-3 hours. So I sometimes sneak in an hour or 2, I am usually exhausted by then.
She doesn't move a whole lot either, she can't walk yet and her crawling although improving isn't very productive. I don't always have to watch her or bring her room to room with me because when I leave she's usually in the same spot, or vicinity, of where I left her.
She's so small and doesn't grow like a weed that I definitely get my money's worth out of her clothes. She's 15mo now and still can wear 6- 9-12 month clothes that she's been wearing for for the last 6 months. That is great! She's also not super stiff like a lot of normal kids she's very very flexible which makes her much more cuddly. Especially when she's tired or worn out she's very cuddly.
She's still very much a baby at this age. She's not a toddler because she doesn't toddle. Her appearance is looking more and more like a little girl but she's is still very much a baby. She can barely talk and can't walk....or stand.
Daddy and Dallas
Dallas and her Mom
These are just a few pictures of us. She just has a special little personality so easy to fall in love with. She has little bonds with all of her family members. We call her "special needs" I don't think you would even know it unless you knew her or saw her try to move. She's captured hearts and I think a lot of it is she isn't "normal" and to see her try so hard to do so many things makes it so much more of an accomplishment when she does. That is one of the best pros. Every little milestone is so special to see, to see her learning little things and wondering where she picked it up from. To see her progress is just the absolute best!!
There are con's though, of course. Because she can't talk she whines a lot, its frustrating not being able to communicate. It's also frustrating for her to not be able to move everywhere she wants to get and get everything she wants to get. I make her work for it. If she wants me to hold her I make her come to me, she hates it and will throw a tantrum but how else will she learn to move or want to learn to move.
With the fatigue she sleeps at least 11-12 hours a night. She usually is down between 7-8 at her own request and without fail is up between 7-8 in the morning. So its definitely a pro for the parents. We get several hours at night to do whatever parents do.....even sometimes I get those several hours by myself. Being over a year old she still takes about 2 naps a day. The afternoon naps usually last 2-3 hours. So I sometimes sneak in an hour or 2, I am usually exhausted by then.
She doesn't move a whole lot either, she can't walk yet and her crawling although improving isn't very productive. I don't always have to watch her or bring her room to room with me because when I leave she's usually in the same spot, or vicinity, of where I left her.
She's so small and doesn't grow like a weed that I definitely get my money's worth out of her clothes. She's 15mo now and still can wear 6- 9-12 month clothes that she's been wearing for for the last 6 months. That is great! She's also not super stiff like a lot of normal kids she's very very flexible which makes her much more cuddly. Especially when she's tired or worn out she's very cuddly.
She's still very much a baby at this age. She's not a toddler because she doesn't toddle. Her appearance is looking more and more like a little girl but she's is still very much a baby. She can barely talk and can't walk....or stand.
Dallas and her "papa"
These are just a few pictures of us. She just has a special little personality so easy to fall in love with. She has little bonds with all of her family members. We call her "special needs" I don't think you would even know it unless you knew her or saw her try to move. She's captured hearts and I think a lot of it is she isn't "normal" and to see her try so hard to do so many things makes it so much more of an accomplishment when she does. That is one of the best pros. Every little milestone is so special to see, to see her learning little things and wondering where she picked it up from. To see her progress is just the absolute best!!
There are con's though, of course. Because she can't talk she whines a lot, its frustrating not being able to communicate. It's also frustrating for her to not be able to move everywhere she wants to get and get everything she wants to get. I make her work for it. If she wants me to hold her I make her come to me, she hates it and will throw a tantrum but how else will she learn to move or want to learn to move.
Monday, November 14, 2011
Pictures.
She's in her swing which she hated but notice she's leaning to the side. She was about 5 months old and still couldn't hold herself up. She still had a hard time even holding her head up. We think the helmet probably helped strengthen her neck muscles.
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| She's going wheeling in the 4 runner and she loves it!! |
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| This is her second helmet which she got on in about January 2011. This was about that time. This is a Jenny jump up we thought might help her to weight bear. Her poor little left leg refused to go straight. Even now this is what she does when we try to get her to stand she stands on the side of her feet. |
Monday, August 22, 2011
Clubbed Feet/Craniosynostosis
I've read on a few sites about MMD that skeletal deformations can occur because of this as well as clubbed feet. I think Dallas got both. She was born with a fused skull which i put in the skeletal deformation category and clubbed feet which apparently is more common. They don't know where the fused skull came into play since it doesn't run in the genes on anyone of mine or my husbands family. It was just a freak thing. The clubbed feet could be caused they say because of the position she was in in-utero. I happen to think that could be true since she didn't move much she didn't have the opportunity to get out of the position she was in much.
I said before that I freaked out when she was born because i saw her little feet and didn't know what was wrong and if it was fixable. It's sad to see your little one be born with all these deformities unexpected and you and your doctors not really know what it is and how to fix it. We could tell as soon as she was born that she wasn't normal. She just didn't look normal. Her little head was so long and odd shaped, it looked a little alienish. I hope to one day figure out how to post pictures on here so everyone who happens to read this and doesn't know who she is can see how she looked. The first two months we saw one to two specialists every week. We were going to Primary Children's Medical Center (PCMC) almost on the daily. It's a very wonderful hospital filled with just the best people. We saw a pediatric orthopaedic specialist for her feet. This doctor said he hadn't quite seen anything like her feet and wasn't quite sure what to do with her. So he asked us if he could experiment with her a little bit. She didn't have "true" clubbed feet so he gave her the diagnosis of high arches, but they were more extreme than just high arches. He treated her like she had clubbed feet and casted her feet in increments for three weeks. Kids with true clubbed feet I believe are casted for longer than that. Her feet looked night and day after that but instead of her feet being a complete 90degree angle, they were more straight, but the arches in her feet were still extreme. It looked like her feet were bent in half if you can imagine. I'll try hard to post pictures. The casts were made of plaster so we weren't able to get them wet so bathing her was a nightmare. She was still able to figure out how to get her feet into her mouth. They cast her knees in a 90degree position but yet she was still able to chew on her feet.....now talk about being flexible. She didn't act like it bugged her at all she just lived with it. Once they took them off she just kicked and kicked like it was the greatest thing. He then wanted us to see a neurologist to see if the muscles that turn the feet out were even working. We had to wait another 3 mo. to get in to see her and that's when we got the original diagnoses of MMD. Once we had that I think her orthopaedic doctor was more able to determine how to treat her. He then ended up just having to do surgery on one of her feet, it just wasn't relaxing or releasing. The general purpose of the casting in to get them into a neutral position and have them stay in neutral. Her right foot was able to go into neutral even though it wouldn't stay like that all the time it was easy to bring them into neutral. Her left foot wouldn't go into neutral it was stuck in the toe pointing downward position. He figured the achilles tendon was too tight and wouldn't allow her foot to release and go upward into neutral. He clipped the tendon and casted her foot so that it would heal in the correct position. It was amazing the surgery took all of 20 minutes. They gassed her for the surgery and when she was coming out of the anesthesia she vomited all over herself it was the saddest thing.....that's not important though. She then had to see ANOTHER prosthetic maker.....her first one was for her head.....and get little braces made for her feet to keep them in a 90 degree/neutral position. They're cute though they're pink and they're velcro...of course she learned how velcro works and learned how to take them off anyway. She just wanted to chew on the velcro. I bet the little hooks probably felt good on her gums, just a thought. Her feet now look 100x's better. I think once she starts walking they'll looks semi normal. I just hope she doesn't walk too funny. I bet if she has the strength she could be a great dancer.
About her head. We went in to see a plastic surgeon up at PCMC to have a consult to see what could be done for her head. We got in at the just the right time. The gave us three options. The first, least invasive was to go in endoscopically. they make a small incision at the start of the fused suture they go in with a scope and cut out the fused section and then make little triangle shaped cutouts along the side of it so the skull can grow outward and then a small incision at the end of the fused section. This option however required the use of a helmet but the healing time was 1-3 night stay. The second option was to make a zig-zag cut from ear to ear going over the top of her head peel the skin back and do the surgery that way. This option the healing time would be about a week or so and she would probably need a blood transfusion but the helmet would not be required, the results would also be immediate. The third option they don't use much anymore but they would peel the skin back take off the top part of her skull and mold it into the correct shape and then put it back on.....in a nutshell. They didn't recommend this option they said they're actually trying to phase it out. I really didn't want the helmet but I didn't want the longer healing time, the shaved head and an ugly scar. So we chose option one. They said they could only do option one between her 6 to 8th week of life. I don't remember why they only have an alotted amount of time to do that kind of surgery. I think it may have something to do with the skull forming time, but we got into surgery the following week being her 7th week. The surgeon was so sweet he came in while we were in the waiting room waiting to take her back and I started to cry. He asked why i was upset and I was upset because I didn't want them to shave her head. He laughed and said they didn't need to shave her head just a little part at the start and at the end. She had the darkest hair and it was quite long for her age and I just loved it. The surgery took about two hours which wasn't too bad. I just found it crazy my first born child going into head surgery before she was two month old. I never in my wildest dreams thought i would ever go through that. When we were in the waiting room some of the other families were talking about what their child was having done and some families seemed like this wasn't their first time there, which is sad but made my experience not seem so bad. We only had to wait about 2-3 hours it wasn't too bad. I went in to see her after she was all settled in her room. she was the saddest sight to behold. She was all drugged up she could barely keep her eyes open. She looked soooo different though. We could see an immediate change in the shape of her head it was amazing. She was still quite swollen though. She didn't need a head wrap or anything. The left the top uncovered we could see the stitches and then just put antibiotic ointment on top to keep it moist . At the bottom of her bed was a little biohazard bag and inside of it was the hair they shaved off. I laughed because i thought that was so sweet of them to save that for me....i probably cried, its what i do best. Me and Drew spent the night up there on a little couch bed that was about 3feet wide...worst nights sleep of our lives. In the morning they weren't ready to release her because her hematocrit was low. They wanted to give her a blood transfusion but the plastic surgeon wouldn't allow it, he wanted to wait a few hours and see if it would go up first. A different doctor wanted to order it but it wasn't his decision to make. The plastic surgeon was the only one who could make that call is what I understood. Luckily they redrew it and it was steadily climbing to a normal safe rate. She didn't need a transfusion. yea! They actually let us go home that afternoon. A head surgery and she only had to stay overnight...isn't that amazing!!! We got home about 5 in the afternoon. A little 7 week old baby she slept a good 12 hours straight that night! Not to mention she was on drugs, they gave us a prescription for baby percocet. She was the saddest little thing when she was all drugged up she was only on it for a few days...she's such a trooper. It was about a month before she had to get the helmet. she didn't mind it, I hated it because she sweat so bad in it and it made her head stink. We had to wash her head day and night and clean the helmet out a few times a day. I bedazzled it to make it a little more cuter. The jewels kept coming off though. She went through a total of 3 helmets and we just recently got the o.k. to leave it off for a few months to see if her head grows like it supposed to or we have to get another helmet and spend another 3 grand on it....i'll be pissed if that's the case. We've been bad parents and she hasn't worn it for the past 2 months anyway and it hasn't made much of a difference. We saw her plastic surgeon to get the okay to leave it off and he said it looks like she has the same shape head as mine....isn't that nice.
This is head pre-surgery. you can see how it narrows in the back how elongated it is. It was hard for her to lay on the back of her head like normal babies so she was always sleeping on her side. We tried to switch her from side to side so her head didn't flatten anymore than it should've.
here's her first helmet. Still sleeping on her side. The helmet didn't seem to bother her she eventually got used to her but they wean them into it, by keeping in on and off for 2 hours the first day then 4 hours on 1 hour off, then 8 hours then the total 23 hours on 1 hour off while she's bathed and then back on it goes. We cheated often but the helmet guy (i don't know what else to call him) said he's seen some children whose parents didn't follow through and they don't look "good". I refused to have the rest of my child's life looking inadequate because of 8 mo.'s of a helmet. It was very worth it.
Here is another not very good picture of the top of her head. She's on the right. You can see her hair is starting to grow back but the scar is all healed up and her head has widened considerably......it's amazing. She looked more and more normal everyday. If you look very closely you can see her left foot turned in also, the turning is part of the clubbed feet.
I said before that I freaked out when she was born because i saw her little feet and didn't know what was wrong and if it was fixable. It's sad to see your little one be born with all these deformities unexpected and you and your doctors not really know what it is and how to fix it. We could tell as soon as she was born that she wasn't normal. She just didn't look normal. Her little head was so long and odd shaped, it looked a little alienish. I hope to one day figure out how to post pictures on here so everyone who happens to read this and doesn't know who she is can see how she looked. The first two months we saw one to two specialists every week. We were going to Primary Children's Medical Center (PCMC) almost on the daily. It's a very wonderful hospital filled with just the best people. We saw a pediatric orthopaedic specialist for her feet. This doctor said he hadn't quite seen anything like her feet and wasn't quite sure what to do with her. So he asked us if he could experiment with her a little bit. She didn't have "true" clubbed feet so he gave her the diagnosis of high arches, but they were more extreme than just high arches. He treated her like she had clubbed feet and casted her feet in increments for three weeks. Kids with true clubbed feet I believe are casted for longer than that. Her feet looked night and day after that but instead of her feet being a complete 90degree angle, they were more straight, but the arches in her feet were still extreme. It looked like her feet were bent in half if you can imagine. I'll try hard to post pictures. The casts were made of plaster so we weren't able to get them wet so bathing her was a nightmare. She was still able to figure out how to get her feet into her mouth. They cast her knees in a 90degree position but yet she was still able to chew on her feet.....now talk about being flexible. She didn't act like it bugged her at all she just lived with it. Once they took them off she just kicked and kicked like it was the greatest thing. He then wanted us to see a neurologist to see if the muscles that turn the feet out were even working. We had to wait another 3 mo. to get in to see her and that's when we got the original diagnoses of MMD. Once we had that I think her orthopaedic doctor was more able to determine how to treat her. He then ended up just having to do surgery on one of her feet, it just wasn't relaxing or releasing. The general purpose of the casting in to get them into a neutral position and have them stay in neutral. Her right foot was able to go into neutral even though it wouldn't stay like that all the time it was easy to bring them into neutral. Her left foot wouldn't go into neutral it was stuck in the toe pointing downward position. He figured the achilles tendon was too tight and wouldn't allow her foot to release and go upward into neutral. He clipped the tendon and casted her foot so that it would heal in the correct position. It was amazing the surgery took all of 20 minutes. They gassed her for the surgery and when she was coming out of the anesthesia she vomited all over herself it was the saddest thing.....that's not important though. She then had to see ANOTHER prosthetic maker.....her first one was for her head.....and get little braces made for her feet to keep them in a 90 degree/neutral position. They're cute though they're pink and they're velcro...of course she learned how velcro works and learned how to take them off anyway. She just wanted to chew on the velcro. I bet the little hooks probably felt good on her gums, just a thought. Her feet now look 100x's better. I think once she starts walking they'll looks semi normal. I just hope she doesn't walk too funny. I bet if she has the strength she could be a great dancer.
About her head. We went in to see a plastic surgeon up at PCMC to have a consult to see what could be done for her head. We got in at the just the right time. The gave us three options. The first, least invasive was to go in endoscopically. they make a small incision at the start of the fused suture they go in with a scope and cut out the fused section and then make little triangle shaped cutouts along the side of it so the skull can grow outward and then a small incision at the end of the fused section. This option however required the use of a helmet but the healing time was 1-3 night stay. The second option was to make a zig-zag cut from ear to ear going over the top of her head peel the skin back and do the surgery that way. This option the healing time would be about a week or so and she would probably need a blood transfusion but the helmet would not be required, the results would also be immediate. The third option they don't use much anymore but they would peel the skin back take off the top part of her skull and mold it into the correct shape and then put it back on.....in a nutshell. They didn't recommend this option they said they're actually trying to phase it out. I really didn't want the helmet but I didn't want the longer healing time, the shaved head and an ugly scar. So we chose option one. They said they could only do option one between her 6 to 8th week of life. I don't remember why they only have an alotted amount of time to do that kind of surgery. I think it may have something to do with the skull forming time, but we got into surgery the following week being her 7th week. The surgeon was so sweet he came in while we were in the waiting room waiting to take her back and I started to cry. He asked why i was upset and I was upset because I didn't want them to shave her head. He laughed and said they didn't need to shave her head just a little part at the start and at the end. She had the darkest hair and it was quite long for her age and I just loved it. The surgery took about two hours which wasn't too bad. I just found it crazy my first born child going into head surgery before she was two month old. I never in my wildest dreams thought i would ever go through that. When we were in the waiting room some of the other families were talking about what their child was having done and some families seemed like this wasn't their first time there, which is sad but made my experience not seem so bad. We only had to wait about 2-3 hours it wasn't too bad. I went in to see her after she was all settled in her room. she was the saddest sight to behold. She was all drugged up she could barely keep her eyes open. She looked soooo different though. We could see an immediate change in the shape of her head it was amazing. She was still quite swollen though. She didn't need a head wrap or anything. The left the top uncovered we could see the stitches and then just put antibiotic ointment on top to keep it moist . At the bottom of her bed was a little biohazard bag and inside of it was the hair they shaved off. I laughed because i thought that was so sweet of them to save that for me....i probably cried, its what i do best. Me and Drew spent the night up there on a little couch bed that was about 3feet wide...worst nights sleep of our lives. In the morning they weren't ready to release her because her hematocrit was low. They wanted to give her a blood transfusion but the plastic surgeon wouldn't allow it, he wanted to wait a few hours and see if it would go up first. A different doctor wanted to order it but it wasn't his decision to make. The plastic surgeon was the only one who could make that call is what I understood. Luckily they redrew it and it was steadily climbing to a normal safe rate. She didn't need a transfusion. yea! They actually let us go home that afternoon. A head surgery and she only had to stay overnight...isn't that amazing!!! We got home about 5 in the afternoon. A little 7 week old baby she slept a good 12 hours straight that night! Not to mention she was on drugs, they gave us a prescription for baby percocet. She was the saddest little thing when she was all drugged up she was only on it for a few days...she's such a trooper. It was about a month before she had to get the helmet. she didn't mind it, I hated it because she sweat so bad in it and it made her head stink. We had to wash her head day and night and clean the helmet out a few times a day. I bedazzled it to make it a little more cuter. The jewels kept coming off though. She went through a total of 3 helmets and we just recently got the o.k. to leave it off for a few months to see if her head grows like it supposed to or we have to get another helmet and spend another 3 grand on it....i'll be pissed if that's the case. We've been bad parents and she hasn't worn it for the past 2 months anyway and it hasn't made much of a difference. We saw her plastic surgeon to get the okay to leave it off and he said it looks like she has the same shape head as mine....isn't that nice.
here's a not very good picture of her feet pre-surgery you can see how her left foot is pointed down. If you put pressure on the bottom and tried to make it go into a a ninety degree angle it wouldn't go. The tendon was just soooo tight.
Movement
It's amazing watching her move, what little movement she can do anyway. With the MMD her movement is very limited because she just doesn't have the strength to hold herself up the way babies do when they crawl. It's taker her this long...a little over a year just to be able to hold her head up when she's on all fours. The good thing about it though is she is extremely flexible. The way she'll reach for items directly in front of her is she'll be sitting with both her legs out straight in front of her and she'll fall forward, purposely, and her stomach will be touching the floor in between her straight legs and she'll turn her head in the direction of the object she's trying to reach and then if she can get it she'll walk her hands back up into the sitting position. We had to teach her a few tricks to lift herself back up when she fell over because her sitting/balancing skills aren't the best when she's on uneven ground....like a bed. She'll constantly fall over and have trouble getting back up. We had to teach her to use her hands to walk herself back up to the sitting position which she caught on pretty quickly and is getting really good at it if she can get into the position. Tummy time doesn't even exist because she's learned to roll to her side and walk herself up or if she's in the crawling position she'll do the same thing. She's only so far having trouble going from her back to sitting up. We're trying to teach her to roll onto her side to get up but her arms are always in the wrong position. She can roll to the side but one arm is always stuck behind her and she can't lift up enough to bring the arm that's behind her to the front of her. You never really think of how much strength it takes to make just the little movements. When your, or in her case her muscles are not there or just weak it's so sad to watch her struggle to make the smallest easiest movements when she can't or doesn't know how. Just watching her I can see she wants to move all over the place but is frustrated because she doesn't know how. She's starting to figure out how to turn around, which she found out all on her own. She surprised me and her papa one day finding her in a 180 degree position a few minutes after we had set her down. Now she just turns circles on her bottom. I think it's the start of her scooting. I hope within the next few months we'll see her start to scoot. I like to give her time on her knees and on her crooked little feet to practice standing to get the sensation of what it feels like and get used to the weight bearing. I think the fact that her feet are turned inward and they are still so small will make it a little more difficult. I did get her some jelly shoes that have a hard sole and that makes keeping her feet straight easier. We have braces for her feet that I don't like to put on her because it causes pressure sores in certain spots and she shouldn't have to go through that. Her neurologist said it's really only necessary at night but we're bad and we don't even do that. These braces are for her clubbed feet that she was born with and have been fixing over time.
her arms move relatively well. Her legs are very very active as well and she's pretty coordinated with them they just refuse to weight bear. She's starting to use her knees a lot more I think once she starts to use her knees more the feet will be next. We're just being patient and letting her figure things out. I don't think she'll weight bear until she actually wants to. Her physical therapist through the state says its probably the sensation of weight bearing on her feet and the sensation of feeling like she's going to fall forward that delays this. I can relate though. Like when I go snowboarding and its hard for me to go to fast because of my feet being locked in a position and feeling like i'm going to fall forward, how am i going to catch myself if i do without breaking my wrists etc. I'm a terrible snowboarder it's just getting over that sensation and having the determination.
Tuesday, August 2, 2011
It's a funny thing....she warned me
I do phlebotomy in an outreach clinic. It means when you go to your doctors office and then send you down the hall to get your blood work done that little lab inside the office is where I would work. I help run two different labs they are in two different buildings right next to each other and on occasion I will run back and forth to help in wherever i'm needed. Yesterday being a monday it was a very very busy day. On average we'll see 30-35 people a day on slower days is more like 20-25 split that between an 8 hour day and 2 to 3 different people. I just want to put this in perspective. This Monday we had an average of over 50 patients at each lab and only three of us work covering these 2 labs. One stationary person registering and ordering and occasionally drawing and then I was back and forth drawing and processing and doing some paperwork. I wouldn't say I'm out of shape but I'm not in the best shape either. This only became exhausting going back and forth towards the end of the day. Being on my feet all day is not really what i'm used to. We usually have downtime around lunch time or the end of the day when it slows down a bit. Anyway that night i went to bed a little later than usual. Slept usual, I usually sleep really deep and feel good in the morning. The next morning I actually woke up sore...my legs were actually sore. I wasn't even doing anything over exerting, i did my just just a little faster paced than usual. Toward the end of the day my leg muscles started to almost give out. They were twitching a little. I could feel thrumming on the back of my legs. My muscles slowing twitching or thrumming up and down the back of my legs. This is when I could tell that its getting worse. However my neurologist warned me about this. I asked her since my muscles are degenerating wouldn't it make sense to lift weights or exercise my muscles to build them up so I would never completely use them. She said in theory that is a very good idea however in my case that doesn't work. She said I can't over exert myself. I can't work out like normal people could. Yoga, cycling or treadmills are good ideas but cardio is not. I would feel overly exhausted the next day and the rip and tear of muscles would actually do more damage than good. They wouldn't rebuild themselves normally or correctly. It completely makes sense when she put it in perspective like that. I just wonder if I would continue using my muscles to their full capacity all the time would it maybe slow it down a little?......think happy thoughts!!!
Monday, August 1, 2011
Explaining MMD
In april we went to the Neurologist again. She was getting an EMG done which is the initial reason we went to see her in the first part. The orthopedist wanted her to have this done to see if the nerves that lift the foot up even worked. When she was younger with her clubbed feet she always had her feet pointed down when he wanted her to lift them up. So we went to see her and have this done....it was a very cool experience.
She put Dallas on Verced to help keep her calm and so that she wouldn't feel it as much. She pulled out a little machine and they had little tiny needles the size of acupuncture needles and they were attached to a wire that showed on the screen frequencies. We didn't know how to read them but she explained them later. When would puncture her skin and put the needle into the muscle at first we didn't see or hear much but aa she probed around a little we started to hear some sounds. It was sooo bizarre. It sounds exactly like low growling. As she moved it some more it sounded like a muscle car engine idling and revving. She said bingo this is what I was looking for this is the myotonia. My mom went with me and we were a little puzzled. Who on earth knew that your muscles made sounds like this, or even sounds at all. The little needles had microphones in the end of them and that is how we were able to hear this.
She explained that the myotonia is your nerves are sending impulses to your muscles to do an action. When your nerves are supposed to stop sending the impulses they don't, they continue to send the impulses. So even though your not doing the particular action they are still receiving the impulses. My mom will hopefully comment on this and explain it a little better than I have. That was truly a neat experience to witness the myotonia and know whats going on when its happening to me and to her. She doesn't show the same symptoms of it that I do. One of the tests she had me do that simulated the myotonia was to hold my hand in a tight fist. Hold the fist as hard as I could for ten seconds. So i held my arm out extended with my hand in a fist and when she counted to 10 i would release the fist as fast as i could. She did it with me. What happened is my release was severely delayed. I would stop sending the signals but my muscles in my fingers didn't relax like they were supposed to. My fingers slowly raised from my fist position when her immediately raised. It was stunning to watch because i had no control over how fast they relaxed.
She put Dallas on Verced to help keep her calm and so that she wouldn't feel it as much. She pulled out a little machine and they had little tiny needles the size of acupuncture needles and they were attached to a wire that showed on the screen frequencies. We didn't know how to read them but she explained them later. When would puncture her skin and put the needle into the muscle at first we didn't see or hear much but aa she probed around a little we started to hear some sounds. It was sooo bizarre. It sounds exactly like low growling. As she moved it some more it sounded like a muscle car engine idling and revving. She said bingo this is what I was looking for this is the myotonia. My mom went with me and we were a little puzzled. Who on earth knew that your muscles made sounds like this, or even sounds at all. The little needles had microphones in the end of them and that is how we were able to hear this.
She explained that the myotonia is your nerves are sending impulses to your muscles to do an action. When your nerves are supposed to stop sending the impulses they don't, they continue to send the impulses. So even though your not doing the particular action they are still receiving the impulses. My mom will hopefully comment on this and explain it a little better than I have. That was truly a neat experience to witness the myotonia and know whats going on when its happening to me and to her. She doesn't show the same symptoms of it that I do. One of the tests she had me do that simulated the myotonia was to hold my hand in a tight fist. Hold the fist as hard as I could for ten seconds. So i held my arm out extended with my hand in a fist and when she counted to 10 i would release the fist as fast as i could. She did it with me. What happened is my release was severely delayed. I would stop sending the signals but my muscles in my fingers didn't relax like they were supposed to. My fingers slowly raised from my fist position when her immediately raised. It was stunning to watch because i had no control over how fast they relaxed.
Living with MMD...Dallas and Me!!
I through away the book, What to expect the First Years. It will only depress you. You read by 2-4 months your baby should hold her head up, the reflex when you put your baby's feet on your lap she will stand. She won't. She's hypotonic, she doesn't have the strength. She doesn't have the muscle. Part of the disorder is that her muscles don't grow and develop like normal babies. The take much much longer to develop and strengthen. I tried to have her stand on my lap and she would just buckle her knees. I kept asking for months before the diagnoses "when are they supposed to stand?" "isn't she supposed to be holding her head up by now?" She's 5 mo. old and still can't hold her head up. 6mo. old and can't sit, and can't even lay on her belly and hold her head up. She's hates tummy time. She's never like it. I can think of a few reasons why. The first, she can't breath. She was diagnoses with a weak diaphragm....again a muscle. When she's on her belly I think her body weight is just too heavy and it's more difficult to breathe. Second, she has a hard time holding her head up so she can only see what it directly in front of her. Dallas likes to see the whole party, she likes to see what's going on and when she can't it frustrates her and she whines then cries.
Because her lungs....another muscle, are weaker than the average baby her cry is very very quiet. When she was just a newborn you could hardly hear her. In a way it was great for our eardrums but it was a constant reminder of how weak she was. Also, if she was in a distant room, without a baby monitor always near us we would never have heard her crying. Even now when she babbles it's still very quiet. I understand her though because I myself am a very quiet talker. I have to actually concentrated and think about it if I want talk louder. I deal with geriatric patients with my job and they don't always hear so well so sometimes our communications struggle but it helps me so that I can try to learn to raise my voice naturally.
She smiled when most babies smiled but she didn't and still doesn't smile often. I don't know if this is part of her personality or the MMD but I've read that it affects the facial and expression muscles. She doesn't smile wide like normal babies she open her mouth wide as a smile. I'll try and post pictures or videos of this, once I find out how! She's laughed when she was supposed to but not often. She was about 6mo. old when she could finally hold her head up on her own. Otherwise it was very very wobbly. She was about 9 mo. old before she could sit up on her own without back support. When she is on her tummy at the age she is now almost one, she'll last almost a minute before she gets frustrated that she can't move or can't see and begin to whine and cry. I'll even put her in a crawling position and she'll rock back and forth. I can't tell she wants to move she just doesn't know how and she doesn't have the strength in her limbs to hold her up.
We exercise her muscles daily and try to show her ways to get back up after falling over and ways to move around. Her neurologist these congenital babies usually will scoot around to get around versus crawling because its easier and doesn't use as much strength. We just have to be patient with her. Something that take a normal kid a month to learn will take her twice to three times if not more to learn. Or sometimes she'll just pick it up. She's recently been clapping and she'll mimic us. We'll clap and say "yay" when she doesn't something on her own. When she falls over and picks herself up, or reaches for a toy and gets back up without falling over we'll clap and say "yay" or just say it without clapping and she'll start clapping. It took her a weekend to learn what clapping is used for and that clapping and "yay" are associated. I was very proud of her for this. It was just this past weekend she picked up on it.
As for me with adult onset MMD I noticed the first symptoms back in High School. Probably when I was 16 to 17 years old. It could've been early but this is when I remember it the most. During school sometimes my hand would lock around the pencil, or open bottles of water or soda and not being able to get the cap of because my grip wasn't good and then my hand would lock into the circular position for a good 5-10 seconds. I would joke with my friends and call it "the claw" which I conveniently stole from the movie Liar Liar. I noticed all this was abnormal but it wasn't a big deal to me. I just thought it was part of the CMT. My brothers started to open up about it and noticed that it was happening to them also. As time progressed it started to occur more frequently, worse in the winter, and it would lock up for longer amounts of time. When the diagnoses came and we read about it online all the pieces fit. It started with my hands then it moved to my feet. Only once in a while my toes will lock up its kind of a wierd feeling. it feel like a charlie horse is coming but it never does. That's probably one of the great things is that a stretch in the morning of my calves and toes which used to give me charlie horses don't anymore even though it feels like its going to.
I notice little things more and more every day that degenerate in me. It's funny watching me get weaker and watching Dallas get stronger to know that when she's older she may be like me and get weaker. It's kind of sad to thing you slowly get stronger to just get weaker.
Because her lungs....another muscle, are weaker than the average baby her cry is very very quiet. When she was just a newborn you could hardly hear her. In a way it was great for our eardrums but it was a constant reminder of how weak she was. Also, if she was in a distant room, without a baby monitor always near us we would never have heard her crying. Even now when she babbles it's still very quiet. I understand her though because I myself am a very quiet talker. I have to actually concentrated and think about it if I want talk louder. I deal with geriatric patients with my job and they don't always hear so well so sometimes our communications struggle but it helps me so that I can try to learn to raise my voice naturally.
She smiled when most babies smiled but she didn't and still doesn't smile often. I don't know if this is part of her personality or the MMD but I've read that it affects the facial and expression muscles. She doesn't smile wide like normal babies she open her mouth wide as a smile. I'll try and post pictures or videos of this, once I find out how! She's laughed when she was supposed to but not often. She was about 6mo. old when she could finally hold her head up on her own. Otherwise it was very very wobbly. She was about 9 mo. old before she could sit up on her own without back support. When she is on her tummy at the age she is now almost one, she'll last almost a minute before she gets frustrated that she can't move or can't see and begin to whine and cry. I'll even put her in a crawling position and she'll rock back and forth. I can't tell she wants to move she just doesn't know how and she doesn't have the strength in her limbs to hold her up.
We exercise her muscles daily and try to show her ways to get back up after falling over and ways to move around. Her neurologist these congenital babies usually will scoot around to get around versus crawling because its easier and doesn't use as much strength. We just have to be patient with her. Something that take a normal kid a month to learn will take her twice to three times if not more to learn. Or sometimes she'll just pick it up. She's recently been clapping and she'll mimic us. We'll clap and say "yay" when she doesn't something on her own. When she falls over and picks herself up, or reaches for a toy and gets back up without falling over we'll clap and say "yay" or just say it without clapping and she'll start clapping. It took her a weekend to learn what clapping is used for and that clapping and "yay" are associated. I was very proud of her for this. It was just this past weekend she picked up on it.
As for me with adult onset MMD I noticed the first symptoms back in High School. Probably when I was 16 to 17 years old. It could've been early but this is when I remember it the most. During school sometimes my hand would lock around the pencil, or open bottles of water or soda and not being able to get the cap of because my grip wasn't good and then my hand would lock into the circular position for a good 5-10 seconds. I would joke with my friends and call it "the claw" which I conveniently stole from the movie Liar Liar. I noticed all this was abnormal but it wasn't a big deal to me. I just thought it was part of the CMT. My brothers started to open up about it and noticed that it was happening to them also. As time progressed it started to occur more frequently, worse in the winter, and it would lock up for longer amounts of time. When the diagnoses came and we read about it online all the pieces fit. It started with my hands then it moved to my feet. Only once in a while my toes will lock up its kind of a wierd feeling. it feel like a charlie horse is coming but it never does. That's probably one of the great things is that a stretch in the morning of my calves and toes which used to give me charlie horses don't anymore even though it feels like its going to.
I notice little things more and more every day that degenerate in me. It's funny watching me get weaker and watching Dallas get stronger to know that when she's older she may be like me and get weaker. It's kind of sad to thing you slowly get stronger to just get weaker.
The beginning
I apologize in advance for my run-on sentences and tangents.
You can search the internet for all sorts of site containing information on Muscular Dystrophy or narrow it down to Myotonic Muscular dystrophy (MMD) and you'll all find the same information. I thought that it would be helpful for the people out there who find this and are going through the same thing wondering "is this normal", or "will she be able to do this or that?" I had and do have all the same questions that I expect every parent who has a child with congenital MMD to have. So I wanted to share Dallas's story of her start at life living with congenital MMD.
She is almost 1yr old now. She'll be one on August the 9th 2011. She was born 8/9/10. I'll start with the pregnancy....while she was in- utero she didn't move a whole lot. I felt her kick every now and then but she was my first child so I didn't know what was normal and what was not. Come to find out what I thought were mostly kicks and punches were actually just the hiccups! I think she was mostly in the same position during the whole pregnancy because i never felt her kicks any other place up top and her punches down low. I now here other ladies who are pregnant complain of how uncomfortable they are and how much their child moves and it surprises me because I never experienced that. My pregnancy was sooo each because she hardly moved, she never kept me up at night moving and since she was relatively still most of the time it wasn't that uncomfortable. All though they may stay those thing i think that is a blessing telling the mother that you're baby is all right. You don't have to worry that your child may possibly not still be alive because you can't feel it moving, even though for her it is normal.
She was born on her due date, 40 weeks to the day, 6lbs 6oz. After delivery and during the next two days in the hospital I saw many many doctors. They all came to visit me telling me, a first time mother, "there is something wrong with her" or "she has some sort of syndrome." They were determined she had a syndrome. She was born hypotonic with clubbed feet and a fussed suture in her skull which is later found to be call craniosynostosis. Any mother with a congenital MMD child will hear the word hypotonic often. I believe it is low muscle tone, and weakness. She didn't move hardly at all. Even being newborn they could tell by her lack of movement and lethargy that something was wrong. She wasn't even premature so they couldn't blame it on that. They brought in a geneticist and thought it was Prader-willie syndrome. Took our history and my grandmother was diagnosed with Charcot-Marie-Tooth disease (wich I think may be a misdiagnosis) and I don't think they even considered that because they didn't even test for it which made me a little angry. She was put into the NICU for 10 days because she wasn't feeding well, she didn't have the sucking reflex so they have to gavage feed her, to feed through a nasal tube. They introduced the bottle slowly once a day twice then every other feeding. She only got upgraded if she ate two ounces without falling asleep. If she didn't finish the two ounces in 15 min. to a half hour they would feed the rest through the tube. They did this every two hours. They only release her from the hospital after a trial night of eating from the bottle only for a 24 hour period. It took her 10 days from birth to accomplish this. I've read on other sites that more severe cases of congenital MMD babies will be on respirators, ventilators and gavage feedings for months. I don't think in fact I know that Dallas is not a severe case. I know she has it and is struggling with it. It took us 4 mo. to find a diagnoses for her. I think we were very fortunate that we didn't have to wonder for much longer what was "wrong" with her.
My brother who is 4 years older than me was diagnosed around Thanksgiving week in 2010 with have the adult onset of Myotonic Muscular Dystrophy. The following January of 2011, so not long ago, Dallas had an appt with a neurologist. She was actually referred there by her pediatric orthopedist for her clubbed feet. We saw Dr. Ai Sakonju at Primary Children's Medical Center in Salt Lake City, UT. She is a pediatric neurologist. When we saw her for the first time she told us as soon as she walked into the room she could tell just by looking at me I have MMD. That fact that Dallas had it and she was my daughter confirmed it. Only the mother can pass on the congenital form. Apparently I've have the adult onset form of MMD and never even knew. My brother's had progressed so far it was interfering with his every day life and needed some answers. We all though it was Charcot-Marie-Tooth (CMT) which I guess is similar in many ways. We got her genetically tested and my brother got genetically tested and they were both confirmed with MMD. I believe the tests run upwards of $4000 without insurance or without a reason. She was found to have about 636 mutated repeats and my brother was around 336 give or take a few. Her neurologist said that a lot of congenital babies are found to have over 1000 repeats, but the number shouldn't be used as a prediction of how they will turn out.
So finally we had a diagnoses, immediately after leaving our lives had changed it seemed so bizarre thinking "oh my gosh, I have a disease." Just the word "disease" is a scary thing. I like to think of it more as a syndrome. Unfortunately the initial outcome is not very pretty and I am scared. I'm not going to lie, I don't like the thought of what it will probably be like when I'm 5, 10, 20 years older. Probably wheelchair bound and unable to take care of myself. So, I don't think about it, I live day to day. I talked to my family physician who's been treating me during my pregnancy, delivery and afterwards. I see him as Dallas' pediatrician. He has two little boys with Autism so he knows what it's like to have children with disabilities. I saw him a few weeks after the diagnoses with chest pains that we kind of diagnoses as anxiety and we talked it out. He said something general but insightful. He said why dwell on the future, why let it bother you. That's in the future we may die today or tomorrow. As unsympathetic as that sounds unfortunately that is the truth. That's why I only try to live day to day and just plan for the future a month or so at a time. I've also found that doing this my anxiety level has decreased considerably.
Just the three of us Dallas, Michelle and Drew! She was 6months old in the picture. February 2011
You can search the internet for all sorts of site containing information on Muscular Dystrophy or narrow it down to Myotonic Muscular dystrophy (MMD) and you'll all find the same information. I thought that it would be helpful for the people out there who find this and are going through the same thing wondering "is this normal", or "will she be able to do this or that?" I had and do have all the same questions that I expect every parent who has a child with congenital MMD to have. So I wanted to share Dallas's story of her start at life living with congenital MMD.
She is almost 1yr old now. She'll be one on August the 9th 2011. She was born 8/9/10. I'll start with the pregnancy....while she was in- utero she didn't move a whole lot. I felt her kick every now and then but she was my first child so I didn't know what was normal and what was not. Come to find out what I thought were mostly kicks and punches were actually just the hiccups! I think she was mostly in the same position during the whole pregnancy because i never felt her kicks any other place up top and her punches down low. I now here other ladies who are pregnant complain of how uncomfortable they are and how much their child moves and it surprises me because I never experienced that. My pregnancy was sooo each because she hardly moved, she never kept me up at night moving and since she was relatively still most of the time it wasn't that uncomfortable. All though they may stay those thing i think that is a blessing telling the mother that you're baby is all right. You don't have to worry that your child may possibly not still be alive because you can't feel it moving, even though for her it is normal.
She was born on her due date, 40 weeks to the day, 6lbs 6oz. After delivery and during the next two days in the hospital I saw many many doctors. They all came to visit me telling me, a first time mother, "there is something wrong with her" or "she has some sort of syndrome." They were determined she had a syndrome. She was born hypotonic with clubbed feet and a fussed suture in her skull which is later found to be call craniosynostosis. Any mother with a congenital MMD child will hear the word hypotonic often. I believe it is low muscle tone, and weakness. She didn't move hardly at all. Even being newborn they could tell by her lack of movement and lethargy that something was wrong. She wasn't even premature so they couldn't blame it on that. They brought in a geneticist and thought it was Prader-willie syndrome. Took our history and my grandmother was diagnosed with Charcot-Marie-Tooth disease (wich I think may be a misdiagnosis) and I don't think they even considered that because they didn't even test for it which made me a little angry. She was put into the NICU for 10 days because she wasn't feeding well, she didn't have the sucking reflex so they have to gavage feed her, to feed through a nasal tube. They introduced the bottle slowly once a day twice then every other feeding. She only got upgraded if she ate two ounces without falling asleep. If she didn't finish the two ounces in 15 min. to a half hour they would feed the rest through the tube. They did this every two hours. They only release her from the hospital after a trial night of eating from the bottle only for a 24 hour period. It took her 10 days from birth to accomplish this. I've read on other sites that more severe cases of congenital MMD babies will be on respirators, ventilators and gavage feedings for months. I don't think in fact I know that Dallas is not a severe case. I know she has it and is struggling with it. It took us 4 mo. to find a diagnoses for her. I think we were very fortunate that we didn't have to wonder for much longer what was "wrong" with her.
My brother who is 4 years older than me was diagnosed around Thanksgiving week in 2010 with have the adult onset of Myotonic Muscular Dystrophy. The following January of 2011, so not long ago, Dallas had an appt with a neurologist. She was actually referred there by her pediatric orthopedist for her clubbed feet. We saw Dr. Ai Sakonju at Primary Children's Medical Center in Salt Lake City, UT. She is a pediatric neurologist. When we saw her for the first time she told us as soon as she walked into the room she could tell just by looking at me I have MMD. That fact that Dallas had it and she was my daughter confirmed it. Only the mother can pass on the congenital form. Apparently I've have the adult onset form of MMD and never even knew. My brother's had progressed so far it was interfering with his every day life and needed some answers. We all though it was Charcot-Marie-Tooth (CMT) which I guess is similar in many ways. We got her genetically tested and my brother got genetically tested and they were both confirmed with MMD. I believe the tests run upwards of $4000 without insurance or without a reason. She was found to have about 636 mutated repeats and my brother was around 336 give or take a few. Her neurologist said that a lot of congenital babies are found to have over 1000 repeats, but the number shouldn't be used as a prediction of how they will turn out.
So finally we had a diagnoses, immediately after leaving our lives had changed it seemed so bizarre thinking "oh my gosh, I have a disease." Just the word "disease" is a scary thing. I like to think of it more as a syndrome. Unfortunately the initial outcome is not very pretty and I am scared. I'm not going to lie, I don't like the thought of what it will probably be like when I'm 5, 10, 20 years older. Probably wheelchair bound and unable to take care of myself. So, I don't think about it, I live day to day. I talked to my family physician who's been treating me during my pregnancy, delivery and afterwards. I see him as Dallas' pediatrician. He has two little boys with Autism so he knows what it's like to have children with disabilities. I saw him a few weeks after the diagnoses with chest pains that we kind of diagnoses as anxiety and we talked it out. He said something general but insightful. He said why dwell on the future, why let it bother you. That's in the future we may die today or tomorrow. As unsympathetic as that sounds unfortunately that is the truth. That's why I only try to live day to day and just plan for the future a month or so at a time. I've also found that doing this my anxiety level has decreased considerably.
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