We had a splash-filled afternoon and evening today. We spent 6 hours today at the waterpark in town. Ellie loves to splash and run and jump in water. Watching her today made me so thankful for the abilities God has preserved in her. I felt a twinge of guilt as I watched her climb the gigantic staircase to the top of the water-slide, time after time. I was thinking of my friends and their little girls who are also fighting Rett. I grinned as she pulled herself up and out of the "bathtub" at the bottom of the slide, climbing over the edge and running back to the stairs. I cannot imagine the frustration she would have without the functional use of her hands. I felt so very grateful as I watched her grabbing balls from the water and throwing them across the pool at other kids. I smiled as she walked through water up to her neck heading for a group of pre-teen girls, thinking how much PT she was getting today while playing. I tried not to notice when the group of girls she tried to interact with all snickered and looked at each other when she touched their raft and got a little too far into their "personal bubbles." At the close of this day, I feel blessed for all the things Ellie can do. Tomorrow Ellie will turn 6. Our day at the waterpark was our way of celebrating Ellie and all of her abilities.
Too many days, I find myself caught up in the frustrations of how hard Rett can make our life. I want to wallow in self-pity for all that we must endure as compared to "typical" families. I want to study or wish or pray away Rett. Today, however, I am rejoicing.
Our Ellie is here, she's happy, and she's learning to communicate with us. She's satisfied with the things she gets to eat, in spite of her diet. She has wants and needs and is getting more and more stubborn about what those are and that we pay attention to them.
Just this week, I spent about 10hours reprogramming Ellie's device. I shifted her from a 15 button layout with quite limited speech options to 45 button layout with a PODD format. Two minutes into her FIRST trial with it, (while I sat on pins and needles praying she wouldn't reject it) she grinned and found the "special occasions" button and subsequently "birthday" "cake" "presents" "cards." To say I was beaming probably doesn't do it justice. What a little smarty pants! Of course, a couple days later, now that she's found the trusty "cow" page, I'm having a hard time getting much else out of her than "moos" and constant conversation about her favorite topic! It's so encouraging to see her working so hard to focus and use her eyes to activate the desired buttons, even though they're now much smaller and closer together. She shakes sometimes because she's focusing so hard. Yesterday I saw her kind of shake her head and squeeze her eyes shut, as she tried to refocus to make hits. Her determination and desire achieve is so strong, she is her mother's child! :)
Ellie's also recently mastered a new sign. "Mine" is her new favorite word. It cracks me up because I initially did this sign as a joke with her playing that something that really was hers, belonged to me. It started out as a back and forth of "it's mine" "no, it's mine" and now has progressed into Ellie using the sign appropriately and with humor at times. Yesterday when she activated a button on her talker that can represent any of these three, "I, me, my" She made her sign for "mine" indicating to me that that button meant her! I love how she smiles and how intently she uses her eyes to activate buttons and say what she has to say. It's amazing how determined she can be!
She really is an amazing little girl. I feel so very blessed that God chose me to be her Mommy.
Happy Birthday Ellie Boo
Wednesday, June 20, 2012
Wednesday, March 28, 2012
Thursday, March 22, 2012
Spring!
Time goes way too quickly.
Here we are it's already March. Ellie's been in school since fall and learning and growing in a lot of ways. I love her teachers and seeing her classmates accept and support her. It gives me hope that in spite of all the evil in this world, there is still good. Eva and I spend our days volunteering with The Bridge. We teach Adult English twice a week and coordinate the HopeRISE Program. We're working to connect, support and empower people in the name of Jesus. It's an amazing ministry that involves a lot of amazing people.
Ellie's speech device, a Echo2 with a Tobii Eye Gaze, arrived about 8 weeks ago now, it's already in for the repair of a broken screen. Ooops! We're blessed to have a loaner while hers is in the shop. Ellie has her device figured out and uses a combination of touch and eye gaze to communicate. More and more, we see her using it in a very purposeful way. She's always saying something, which IS pretty age-appropriate I guess! I feel like I'm telling her "no" more than I ever have had to before. (Simply because she couldn't ASK before!) Mostly she likes talking about food... who can blame her really?!
With the warm weather lately, we're in full swing moving towards spring. Trampolines are set up, the tractor's tried the garden once and soon we'll be putting in potatoes and carrots. The strawberry plants are popping up all over the place and we're vowing to keep the weeds out of them this year! I'm planning to share some of my garden space with friends this summer. Too many people are cramped up in apartments and just don't have the chance to grow their own food. We're all excited for what this summer holds. We'll have more crop ground than last year after all the tornado cleanup. While it's nice to have a lot of mess gone, we miss having places to park stuff and homes for our animals. A possible barn-moving and some construction of outbuildings is on this summer's agenda.
I have a stockpile of lumber for projects and I'm hoping to be able to share some of that experience with friends. A 4th of July craft booth may even be in my future.
I've been working towards a goal of running a 1/2 marathon this summer. My goal is to raise $100 for every race mile I run towards the research of a cure for Rett Syndrome. I'm up to about 9 miles in distance but I think I'll be ready for the first one this summer. I did a 10k while we were on vacation in San Diego in February and it went really well AND we raised about $400 for IRSF (International Rett Syndrome Research.) I plan to do all the local 5k's this summer as part of my training plan for the 1/2. We have a fundraising page at www.firstgiving.org. (Cure Rett 4 Ellie) If you're able, we would very much appreciate the donation towards a cure.
Speaking of a cure!~ The research continues to speed ahead. I praise God every time I read a new research article. The biggest news recently was the publication of an article in Nature (a science journal) about bone marrow transplants and some very amazing things they learned about the brains of Rett girls. While it's still only being tried in mouse-models, we're thrilled to know there are such intelligent people working towards a cure for Ellie and all the little girls like her. We're so hopeful that a cure will come soon.
Here we are it's already March. Ellie's been in school since fall and learning and growing in a lot of ways. I love her teachers and seeing her classmates accept and support her. It gives me hope that in spite of all the evil in this world, there is still good. Eva and I spend our days volunteering with The Bridge. We teach Adult English twice a week and coordinate the HopeRISE Program. We're working to connect, support and empower people in the name of Jesus. It's an amazing ministry that involves a lot of amazing people.
Ellie's speech device, a Echo2 with a Tobii Eye Gaze, arrived about 8 weeks ago now, it's already in for the repair of a broken screen. Ooops! We're blessed to have a loaner while hers is in the shop. Ellie has her device figured out and uses a combination of touch and eye gaze to communicate. More and more, we see her using it in a very purposeful way. She's always saying something, which IS pretty age-appropriate I guess! I feel like I'm telling her "no" more than I ever have had to before. (Simply because she couldn't ASK before!) Mostly she likes talking about food... who can blame her really?!
With the warm weather lately, we're in full swing moving towards spring. Trampolines are set up, the tractor's tried the garden once and soon we'll be putting in potatoes and carrots. The strawberry plants are popping up all over the place and we're vowing to keep the weeds out of them this year! I'm planning to share some of my garden space with friends this summer. Too many people are cramped up in apartments and just don't have the chance to grow their own food. We're all excited for what this summer holds. We'll have more crop ground than last year after all the tornado cleanup. While it's nice to have a lot of mess gone, we miss having places to park stuff and homes for our animals. A possible barn-moving and some construction of outbuildings is on this summer's agenda.
I have a stockpile of lumber for projects and I'm hoping to be able to share some of that experience with friends. A 4th of July craft booth may even be in my future.
I've been working towards a goal of running a 1/2 marathon this summer. My goal is to raise $100 for every race mile I run towards the research of a cure for Rett Syndrome. I'm up to about 9 miles in distance but I think I'll be ready for the first one this summer. I did a 10k while we were on vacation in San Diego in February and it went really well AND we raised about $400 for IRSF (International Rett Syndrome Research.) I plan to do all the local 5k's this summer as part of my training plan for the 1/2. We have a fundraising page at www.firstgiving.org. (Cure Rett 4 Ellie) If you're able, we would very much appreciate the donation towards a cure.
Speaking of a cure!~ The research continues to speed ahead. I praise God every time I read a new research article. The biggest news recently was the publication of an article in Nature (a science journal) about bone marrow transplants and some very amazing things they learned about the brains of Rett girls. While it's still only being tried in mouse-models, we're thrilled to know there are such intelligent people working towards a cure for Ellie and all the little girls like her. We're so hopeful that a cure will come soon.
Friday, December 30, 2011
I just wanted boots!
This morning was rushed, as Fridays usually are. Friday is therapy day. The day, once a week, when we have to be in Spencer by 9am for Ellie's 3 hrs of therapy. It takes the morning and we usually get home around 1:00. Today we were running late (it happens.) About 10min. out I decided to call and let the therapists know we'd be a little late. As I started to tell the receptionist, she cut me off short. Apparently they HAD had us scheduled for therapy but then due to a conflict decided to MOVE our therapy to Thursday this week. Only problem was that they forgot to tell US they moved it. She apologized, I told her I understood and that it'd all work out. I decided we may as well go the last few miles into Spencer and hit a few stores while we had free time to burn.
We started at Menards. It was a fairly quick run to exchange a couple things and get the ducting supplies for my new range hood. Second stop was Bomgaars; Emma got a gift card for Christmas and has been dying to use it. She bought a hoof pick, horse wormer and a long handled scrub brush. (She's in horse-heaven!) Last stop, JCPenneys. I have a $25 gift card from Nicholas' parents and I really have been hunting for a pair of those tall boots everyone's wearing. I'm not usually one to go with trends, but this one I kinda like! So, lucky me, it was 60% off boots! WHOO HOO! So I thought. All it took was the simple fact that the Spencer mall apparently thinks carts are over-rated. I always seem to forget this until after we go in. Ughh. The cart is containment and spacial organization for Ellie. Without the cart, her world crumbles and so does mine. I hope this makes you laugh because writing it made it a lot funnier than it was in real time!
So this is how it played out... I pull Ellie close to have her sit by me on the bench, holding my hand as I struggle to try on a pair of boots. Meanwhile, Eva has taken off her boots and socks and it reaching to a box that apparently she thinks might work for her. (From the ladies section of course.) As she reaches, I ask her to come sit down. It's too late, she bumps a box under the table that bumps a stack on the other side under the table. It looked something like dominoes. The salesman wasn't so compassionate as Eva and I tried to re-stack. Sigh. With more determination, I head back to the seat (this time with Eva and Ellie in tow.) Ellie decides Eva has too much hair and tries to start war by pulling hair and trying to kick across me to Eva. All while I'm sitting in the middle trying to push them apart from one another. At this point, Emma has found that they make tall boots in kid sizes.. I tell her she can go to the endcap, 1/2 isle away to look. I find a boot that I like and amazingly it fits!
Meanwhile, Emma has found a pair she likes. Ellie is flopping on the floor like a fish; screaming and trying to kick anyone/thing within her reach. She's refusing to hold my hand or to be picked up. Little old ladies are walking by gawking and in their inattention to their own matters, bumping themselves into the shoe wracks. We've been in the store all of 20 minutes now and all the kids have unloaded their coats into my arms. About now, I am really wondering if we're going to make it out of the store or not!! I'm struggling to get Ellie to stand and hold my hand. (She loves to drop like a piece of spaghetti and make me look like a mom dragging a little girl by her arm.) I finally get her to stand and walk (without my hand) to the register. I make a deal with Emma, that I'll buy the boots as a birthday gift for her. (Yes, I still have to wrap them. No, you cannot have them today!) I opt out of the Mommy-boots. I vow to find a pair at SOS or Goodwill that someone else barely wore and replaced with a newer version at Christmas! We survive checkout - Praise GOD for that blessing! (He knew I was done and needed His help!) As I clicked the last buckle on the carseats I breathed a sigh of relief. I left slightly bitter that I can't even have a few minutes to shop like everyone else in the store. I'm blogging about it and then I'm letting it go. Grin. This is our life and I'm thankful for every part of it, even on the hard days.
I finished the night out with a 5mile run on the treadmill, listening to Francesca Battistelli. I'm getting ready for a 1/2 marathon! I'm hoping to run the first one in March (depending on the weather!) I'll be running a 10k while we're in San Diego next month. (Nicholas is going for work and we're tagging along.) So I have a goal tied to this running! My goal is to raise $100 per race-mile for IRSF (International Rett Syndrome Foundation.) The money goes towards research that is getting closer to a CURE everyday. If you'd like to support or sponsor a mile, I would GREATLY appreciate it! You can donate here ... http://www.firstgiving.com/fundraiser/elliesnyder/curerett4ellie
I pray God blesses you this week.
<3 Angie
We started at Menards. It was a fairly quick run to exchange a couple things and get the ducting supplies for my new range hood. Second stop was Bomgaars; Emma got a gift card for Christmas and has been dying to use it. She bought a hoof pick, horse wormer and a long handled scrub brush. (She's in horse-heaven!) Last stop, JCPenneys. I have a $25 gift card from Nicholas' parents and I really have been hunting for a pair of those tall boots everyone's wearing. I'm not usually one to go with trends, but this one I kinda like! So, lucky me, it was 60% off boots! WHOO HOO! So I thought. All it took was the simple fact that the Spencer mall apparently thinks carts are over-rated. I always seem to forget this until after we go in. Ughh. The cart is containment and spacial organization for Ellie. Without the cart, her world crumbles and so does mine. I hope this makes you laugh because writing it made it a lot funnier than it was in real time!
So this is how it played out... I pull Ellie close to have her sit by me on the bench, holding my hand as I struggle to try on a pair of boots. Meanwhile, Eva has taken off her boots and socks and it reaching to a box that apparently she thinks might work for her. (From the ladies section of course.) As she reaches, I ask her to come sit down. It's too late, she bumps a box under the table that bumps a stack on the other side under the table. It looked something like dominoes. The salesman wasn't so compassionate as Eva and I tried to re-stack. Sigh. With more determination, I head back to the seat (this time with Eva and Ellie in tow.) Ellie decides Eva has too much hair and tries to start war by pulling hair and trying to kick across me to Eva. All while I'm sitting in the middle trying to push them apart from one another. At this point, Emma has found that they make tall boots in kid sizes.. I tell her she can go to the endcap, 1/2 isle away to look. I find a boot that I like and amazingly it fits!
Meanwhile, Emma has found a pair she likes. Ellie is flopping on the floor like a fish; screaming and trying to kick anyone/thing within her reach. She's refusing to hold my hand or to be picked up. Little old ladies are walking by gawking and in their inattention to their own matters, bumping themselves into the shoe wracks. We've been in the store all of 20 minutes now and all the kids have unloaded their coats into my arms. About now, I am really wondering if we're going to make it out of the store or not!! I'm struggling to get Ellie to stand and hold my hand. (She loves to drop like a piece of spaghetti and make me look like a mom dragging a little girl by her arm.) I finally get her to stand and walk (without my hand) to the register. I make a deal with Emma, that I'll buy the boots as a birthday gift for her. (Yes, I still have to wrap them. No, you cannot have them today!) I opt out of the Mommy-boots. I vow to find a pair at SOS or Goodwill that someone else barely wore and replaced with a newer version at Christmas! We survive checkout - Praise GOD for that blessing! (He knew I was done and needed His help!) As I clicked the last buckle on the carseats I breathed a sigh of relief. I left slightly bitter that I can't even have a few minutes to shop like everyone else in the store. I'm blogging about it and then I'm letting it go. Grin. This is our life and I'm thankful for every part of it, even on the hard days.
I finished the night out with a 5mile run on the treadmill, listening to Francesca Battistelli. I'm getting ready for a 1/2 marathon! I'm hoping to run the first one in March (depending on the weather!) I'll be running a 10k while we're in San Diego next month. (Nicholas is going for work and we're tagging along.) So I have a goal tied to this running! My goal is to raise $100 per race-mile for IRSF (International Rett Syndrome Foundation.) The money goes towards research that is getting closer to a CURE everyday. If you'd like to support or sponsor a mile, I would GREATLY appreciate it! You can donate here ... http://www.firstgiving.com/fundraiser/elliesnyder/curerett4ellie
I pray God blesses you this week.
<3 Angie
Tuesday, December 20, 2011
Boston and Dr.Khwaja
Ellie and I decided Boston really isn't our kind of city. Easterners just aren't friendly enough. I'm used to looking at and smiling to each person I meet regardless of when or where I meet them. Boston is not such a place where people understand us midwesterners. I got an education from the tech that put Ellie's EEG leads on. She told me all about the subway. Told me if we ride the "blue line," we should only look down and never make eye contact. Well, glad we got that cleared up. I guess I'm a curious person and I enjoy browsing the people as they walk about or stand cramped in a subway car. Apparently, I need to be intentional about watching my feet!
Aside from Boston being an anti-social place, we had a lovely time during our 3 day stay! We spent all the free-time that we had browsing shops and window shopping. Of course, that's about all we did was browse! What a spendy city Boston is! I just have to tell you about the 2 thrift/consignment stores we visited. One was run by a hip, young gal who I'm certain wore some very "high-end" brands. I browsed the jeans finding brands I'd never heard of and gasped at every single price-tag. I checked and rechecked the lettering on the front window - yeah I'm certain it said "USED" clothing. So, you can imagine my surprise when I found jeans upwards of $200 hanging on the rack! I quickly moved to tops, looking for those $2-$3 bargains that I adore at home. My hopes of a trendy "Boston" outfit were quickly dashed at prices of $29 and up. I CERTAINLY was not paying $30 for shirts that were used and that I could by at home for $2 any day of the week. Sigh. So forget those knee-high brown boots that I adored on the streets and in the subway. I'll have to admire from afar. I refuse to pay $200 for something used that squishes my toes and squeezes my legs.
Well, on to the purpose of our trip you're saying!? Indeed! As I was told by several of you in advance of our trip, Dr.Khwaja was so sweet, compassionate and all around wonderful. He looked at Ellie's EEG (which is a brain check for seizure spikes and activity), her walking, climbing, jumping, hand-use, eye-hand coordination, her ability to follow movement with her eyes, as well as her back (to check for scoliosis.) Dr. Khwaja was positive. He told us that Ellie has what he calls "Preserved Speech Variant Rett Syndrome.) Essentially, this means that Ellie has either been able to retain, or relearn how to make speech sounds and some words. He explained that other girls with preserved speech variant of Rett often retain the ability to use their hands and legs for much longer than girls without the preserved speech variant. He also said that they typically have LARGER heads than "typical" girls rather than the "shrinking" heads that most Rett girls have. How thrilling for a doctor who is "the authority" on this syndrome, to tell us that we have reason to hope and reason to expect great things from Ellie. It's been encouraging to us going forward that there are no "knowns." It helps us to know that while this is who Ellie is and how she functions today, that may or may not change tomorrow. He noted concerns about her low-tone, below average motor planning,
Dr. Khwaja told me that the team has NOT YET chosen for the IGF1 trial. He assured me that they would be calling and writing to let families know in January, as to who got into the trial. He told us that we meet all of the criteria for the trial and that our application would definitely be considered as they select the participants. We will be anxious to hear!
We left Boston hopeful for the future. We will schedule another visit for 1 year from now though I pray we will be part of the trial and seeing him much more regularly!
I pray that you all have a very blessed and merry Christmas season. We are truly blessed to be parents and to have such caring and compassionate people surrounding us.
If you'd like to donate to IRSF and Rett Research please do so here. This link will take you to a FirstGiving page I've created to explain my latest endeavor. I've set some personal goals and tied some fundraising goals to those training goals. I thank God for chosing me to be Ellie's momma and I pray for a cure to Rett for my blessing and my inspiration; Ellie!
Aside from Boston being an anti-social place, we had a lovely time during our 3 day stay! We spent all the free-time that we had browsing shops and window shopping. Of course, that's about all we did was browse! What a spendy city Boston is! I just have to tell you about the 2 thrift/consignment stores we visited. One was run by a hip, young gal who I'm certain wore some very "high-end" brands. I browsed the jeans finding brands I'd never heard of and gasped at every single price-tag. I checked and rechecked the lettering on the front window - yeah I'm certain it said "USED" clothing. So, you can imagine my surprise when I found jeans upwards of $200 hanging on the rack! I quickly moved to tops, looking for those $2-$3 bargains that I adore at home. My hopes of a trendy "Boston" outfit were quickly dashed at prices of $29 and up. I CERTAINLY was not paying $30 for shirts that were used and that I could by at home for $2 any day of the week. Sigh. So forget those knee-high brown boots that I adored on the streets and in the subway. I'll have to admire from afar. I refuse to pay $200 for something used that squishes my toes and squeezes my legs.
Well, on to the purpose of our trip you're saying!? Indeed! As I was told by several of you in advance of our trip, Dr.Khwaja was so sweet, compassionate and all around wonderful. He looked at Ellie's EEG (which is a brain check for seizure spikes and activity), her walking, climbing, jumping, hand-use, eye-hand coordination, her ability to follow movement with her eyes, as well as her back (to check for scoliosis.) Dr. Khwaja was positive. He told us that Ellie has what he calls "Preserved Speech Variant Rett Syndrome.) Essentially, this means that Ellie has either been able to retain, or relearn how to make speech sounds and some words. He explained that other girls with preserved speech variant of Rett often retain the ability to use their hands and legs for much longer than girls without the preserved speech variant. He also said that they typically have LARGER heads than "typical" girls rather than the "shrinking" heads that most Rett girls have. How thrilling for a doctor who is "the authority" on this syndrome, to tell us that we have reason to hope and reason to expect great things from Ellie. It's been encouraging to us going forward that there are no "knowns." It helps us to know that while this is who Ellie is and how she functions today, that may or may not change tomorrow. He noted concerns about her low-tone, below average motor planning,
Dr. Khwaja told me that the team has NOT YET chosen for the IGF1 trial. He assured me that they would be calling and writing to let families know in January, as to who got into the trial. He told us that we meet all of the criteria for the trial and that our application would definitely be considered as they select the participants. We will be anxious to hear!
We left Boston hopeful for the future. We will schedule another visit for 1 year from now though I pray we will be part of the trial and seeing him much more regularly!
I pray that you all have a very blessed and merry Christmas season. We are truly blessed to be parents and to have such caring and compassionate people surrounding us.
If you'd like to donate to IRSF and Rett Research please do so here. This link will take you to a FirstGiving page I've created to explain my latest endeavor. I've set some personal goals and tied some fundraising goals to those training goals. I thank God for chosing me to be Ellie's momma and I pray for a cure to Rett for my blessing and my inspiration; Ellie!
Tuesday, November 29, 2011
Rett Syndrome 101
Maybe I passed you a card and you're only beginning to get to know our Ellie girl. I decided a post simply stating what Rett Syndrome is should be found here somewhere!
If you want a resource or two, www.rettsyndrome.org and http://www.nichd.nih.gov/health/topics/rett_syndrome.cfm are the authorities on Rett Syndrome. Much of the information I will share in this post I am pulling directly from their sites.
What is Rett syndrome
Rett syndrome is a neurological and developmental disorder that mostly occurs in females. Infants with Rett syndrome seem to grow and develop normally at first, but then stop developing and even lose skills and abilities. For instance, they stop talking even though they used to say certain words. They lose their ability to walk properly. They stop using their hands to do things and often develop stereotyped hand movements, such as wringing, clapping, or patting their hands.
Rett syndrome is considered one of the autism spectrum disorders. Most cases of Rett syndrome are caused by a mutation on the MECP2 gene, which is found on the X chromosome. For more information on the MECP2 gene, see the What causes Rett Syndrome? (PDF - 697 KB) section of NICHD’s Rett Syndrome publication.
Rett syndrome is considered one of the autism spectrum disorders. Most cases of Rett syndrome are caused by a mutation on the MECP2 gene, which is found on the X chromosome. For more information on the MECP2 gene, see the What causes Rett Syndrome? (PDF - 697 KB) section of NICHD’s Rett Syndrome publication.
What are the symptoms of Rett syndrome?
Beginning between 3 months and 3 years of age, most children with Rett syndrome start to show some of the following symptoms:
- Loss of purposeful hand movements, such as grasping with fingers, reaching for things, or touching things on purpose
- Loss of speech
- Balance and coordination problems, including losing the ability to walk in many cases
- Stereotypic hand movements, such as hand wringing
- Breathing problems, such as hyperventilation and breath holding, or apnea when awake
- Anxiety and social-behavioral problems
- Intellectual and developmental disabilities
- Scoliosis, a curving of the spine that occurs in approximately 80 percent of girls with Rett syndrome
- Seizures
- Constipation and gastro-esophageal reflux
- Cardiac or heart problems, specifically problems with the rhythm of their heartbeat
- Problems feeding themselves, trouble swallowing and chewing
- Problems with sleep, specifically disrupted sleep patterns at night and an increase in total and daytime sleep.
What is the usual course of Rett syndrome?
Health care providers view the onset of Rett syndrome symptoms in four stages:
- Early Onset Phase – Development stalls or stops.
- Rapid Destructive Phase – The child loses skills (regresses) quickly. Purposeful hand movements and speech are usually the first skills lost.
- Plateau Phase – Regression slows, and other problems may seem to lessen or improve. Most people with Rett syndrome spend most of their lives in stage 3.
- Late Motor Deterioration Phase – Individuals may become stiff or lose muscle tone; some may become immobile.
What is the treatment for Rett syndrome?
There is currently no cure for Rett syndrome. However, girls can be treated for some of the problems associated with the condition. These treatments generally aim to slow the loss of abilities, improve or preserve movement, and encourage communication and social contact.
People with Rett syndrome often benefit from a team approach to care, in which many kinds of health care providers play a role, along with family members. Members of this team may include:
- Physical therapists, who can help patients improve or maintain mobility and balance and reduce misshapen back and limbs
- Occupational therapists, who can help patients improve or maintain use of their hands and reduce stereotypic hand movements.
- Speech-language therapists, who can help patients use non-verbal ways of communication and improve social interaction.
Other options, such as medication (such as for constipation or heart problems) or surgery (to correct spine curvature or correct heart defects) are also effective for treating some of the symptoms of Rett syndrome.
Tuesday, November 22, 2011
Fall Update - November
We're getting a bike!! Shhhh ... don't tell Ellie... it's going to be a surprise! We've finally gotten Ellie approved for a bike that she won't be able to flip and that, prayerfully, she'll be able to learn to ride on. Luckily, we have a pretty awesome bike-shop in town! The owner there has worked his way through catalogs and different ideas to come up with a bike that he thinks will work for Ellie. I'm ordering it in the morning and hoping it will be here for Christmas! :) BEST part is that we got the bike approved as a therapy tool and it will be covered through her waiver. Getting things approved is next to impossible, so we're thrilled that they're covering this. We've been saving our respite money all year to go towards this. Figuring out a way for Ellie to ride a bike safely will be so worth the effort!
Now, simultaneously we're still working getting the speech device bought for Ellie. I got confirmation last week that the pre-authorization paperwork has been submitted to our insurances. That's the biggest step, getting the initial request and supporting paperwork submitted so insurance can approve or deny. If they deny, then we move on to appeal the decision and provide additional support for Ellie's need of the device. The device we're trying to buy is and EcoPoint2 with Tobii Eye Gaze technology. It's an amazing device with incredible potential to grow and expand to meet Ellie's needs. The only thing better would be eye-gaze on an Ipad!! Ipad's have the capability to use TouchChat HD which is an app. that allows kids to touch the image and the device to speak for the user. Sadly, they haven't mastered eye-gaze for ipad's yet :( The only disadvantage to the EcoPoint is that it's large, heavy and requires a tripod stand to be used. Sooo, it's just a little more to haul but more importantly it only lets her have the option to "talk" when it's set up and she's at a chair/table setting. In spite of the little disadvantages, we're thrilled with the doors this device has already opened to Ellie!
Ellie's doing so well in school! She loves seeing her little friends and they're so sweet back to her. Ellie regularly blows kisses to her teachers when we leave school in the afternoon, which assures me that she does enjoy being there and has developed relationships with her teachers. I'm so thankful for such wonderful women with hearts for special kids. I continue to be amazed that Ellie can bottle her aggression and save it for Eva at home. (Poor Eva!) We've seen an increase in aggression at home, which is tough. Some nights I feel like I need cages!! Eva's finally to the age and size that she feels confident enough to fight back. We always thought that after she clobbered Ellie back a couple times the aggression would simmer and she'd be more careful about attacking. Unfortunately, not so. The trouble is that Ellie's aggression is starting to rub off on Eva, it's tough trying to device a parenting plan that differs so greatly between kids for the same behavior. We're struggling through this phase, praying that it passes quickly and that Eva learns new tactics.
I know that there are days when I underestimate how hard it is to be Ellie's sister. I'm so proud of Emma for being open and honest with people about Ellie. I know that because of our unique situation, Emma has a lot more responsibility than most almost 8 year olds. On the days when she goes out of her way to modify activities so that they can include Ellie, it melts my heart. On the days when she's lost her cool, I have to remind myself that she's only turning 8 and how remarkably well she does considering. Eva continually amazes with with her forgiving spirit. I kid you not, she can take a slap to the face and 2 minutes later kiss Ellie when she falls down. Repeatedly, Eva is the one to ask me if Ellie can get up yet, even though she was the one that just got slammed into the cupboard by Ellie or shoved onto the slate floor. Eva is how I define mercy. I assure you God knew I needed this loving, forgiving, spunky, gum-chewing 3 year old!
So, everything else updated, now on to the intense Rett Syndrome stuff. Over the course of the past few months, Ellie's OT has continually been concerned about Ellie's loss of fine motor skills in her left hand. What was a fine thumb to pointer pinch to pick up items gradually turned into a full hand grab. The left side, not being her dominant, has always been a bit behind her right and it still is just to a different degree. This is one of our biggest concerns right now and something that I sit and think on. Last week Jen (our OT) told me that she's going to focus on "gross fine motor" at this point. What that means is that she's going to focus on creating success for Ellie with that larger grasp rather than forcing her to do the fine motor picking up that she struggles with. She certainly still has the ability at times, with the right motivation, it's just that overall her fine motor skills have deteriorated. What used to be a very nice hand-grip on her silverware, is now fist hold, making it harder for her to control her spoon or fork and nicely get it to her mouth. We're seeing her resort to hand-feeding a lot more often than she did just 3 months ago. We know we're utterly blessed to have a 5 1/2 year old daughter that still walks, RUNS even, that can feed herself normal table food, and who can verbalize sounds and a handful of words. We're blessed that Ellie so quickly figured out eye-gaze and that at some point in the next few months, Ellie will get a "talker" that will allow her to have a voice!
The other struggle we're having lately is seizures, or at least they seem to be seizures. They're occurring anytime that Ellie's woke up from a deep sleep. She appears 'out of it' and different parts of her body shake. Her eyes pop wide open and roll up, legs and arms go stiff, she arches her back and her head is pulled back, most often her fingers look like she's typing or playing piano as they jerk and flinch. It's probably the toughest thing to watch. I've seen it dozens of times and still every time I panic inside. I avoid waking her but there are sometimes when just the slightest noise or movement causes the reaction. It makes me so glad that we have an appointment with Dr.Khwaja next month. We're really needing some peace about these events.
Our appointments in Boston were rescheduled until December because Dr.Khwaja needed the month of November off. The schedule shift actually worked better for us, since Nicholas will be home for the other two girls. Our Miracle Flights as well as our lodging were able to change our reservations without extra charges - another blessing! We're praying Dr.Khwaja can give us some answers about the fine-motor losses as well as the apparent-seizures. We know we'll be in good hands with Dr.Khwaja and his staff!
I can't believe it's already November and Thanksgiving is in 2 days. Not sure where this year went or how we've survived it at all. I know I never could have made it without friends lending their shoulders and words of support and love or without God to carry me when I was just plain too crushed to walk. To think that 7 months ago we got the call that Ellie had Rett and to think about what we've learned and all the things we've seen change. I know God uses "stuff" on this Earth to mold us into the people he wants us to be. If we're confident in our own strength and ability, we aren't as easily used by Him. This season of life has changed Nicholas and I, our entire family really. I turn 30 this weekend, which just is kind of the cherry on top of 2011. I don't feel old, I feel seasoned, refined, broken, molded, driven, and imperfect with character like an antique dresser.
I pray you feel blessed and loved this Thanksgiving. We all have so much to be thankful for.
~Angie
Now, simultaneously we're still working getting the speech device bought for Ellie. I got confirmation last week that the pre-authorization paperwork has been submitted to our insurances. That's the biggest step, getting the initial request and supporting paperwork submitted so insurance can approve or deny. If they deny, then we move on to appeal the decision and provide additional support for Ellie's need of the device. The device we're trying to buy is and EcoPoint2 with Tobii Eye Gaze technology. It's an amazing device with incredible potential to grow and expand to meet Ellie's needs. The only thing better would be eye-gaze on an Ipad!! Ipad's have the capability to use TouchChat HD which is an app. that allows kids to touch the image and the device to speak for the user. Sadly, they haven't mastered eye-gaze for ipad's yet :( The only disadvantage to the EcoPoint is that it's large, heavy and requires a tripod stand to be used. Sooo, it's just a little more to haul but more importantly it only lets her have the option to "talk" when it's set up and she's at a chair/table setting. In spite of the little disadvantages, we're thrilled with the doors this device has already opened to Ellie!
Ellie's doing so well in school! She loves seeing her little friends and they're so sweet back to her. Ellie regularly blows kisses to her teachers when we leave school in the afternoon, which assures me that she does enjoy being there and has developed relationships with her teachers. I'm so thankful for such wonderful women with hearts for special kids. I continue to be amazed that Ellie can bottle her aggression and save it for Eva at home. (Poor Eva!) We've seen an increase in aggression at home, which is tough. Some nights I feel like I need cages!! Eva's finally to the age and size that she feels confident enough to fight back. We always thought that after she clobbered Ellie back a couple times the aggression would simmer and she'd be more careful about attacking. Unfortunately, not so. The trouble is that Ellie's aggression is starting to rub off on Eva, it's tough trying to device a parenting plan that differs so greatly between kids for the same behavior. We're struggling through this phase, praying that it passes quickly and that Eva learns new tactics.
I know that there are days when I underestimate how hard it is to be Ellie's sister. I'm so proud of Emma for being open and honest with people about Ellie. I know that because of our unique situation, Emma has a lot more responsibility than most almost 8 year olds. On the days when she goes out of her way to modify activities so that they can include Ellie, it melts my heart. On the days when she's lost her cool, I have to remind myself that she's only turning 8 and how remarkably well she does considering. Eva continually amazes with with her forgiving spirit. I kid you not, she can take a slap to the face and 2 minutes later kiss Ellie when she falls down. Repeatedly, Eva is the one to ask me if Ellie can get up yet, even though she was the one that just got slammed into the cupboard by Ellie or shoved onto the slate floor. Eva is how I define mercy. I assure you God knew I needed this loving, forgiving, spunky, gum-chewing 3 year old!
So, everything else updated, now on to the intense Rett Syndrome stuff. Over the course of the past few months, Ellie's OT has continually been concerned about Ellie's loss of fine motor skills in her left hand. What was a fine thumb to pointer pinch to pick up items gradually turned into a full hand grab. The left side, not being her dominant, has always been a bit behind her right and it still is just to a different degree. This is one of our biggest concerns right now and something that I sit and think on. Last week Jen (our OT) told me that she's going to focus on "gross fine motor" at this point. What that means is that she's going to focus on creating success for Ellie with that larger grasp rather than forcing her to do the fine motor picking up that she struggles with. She certainly still has the ability at times, with the right motivation, it's just that overall her fine motor skills have deteriorated. What used to be a very nice hand-grip on her silverware, is now fist hold, making it harder for her to control her spoon or fork and nicely get it to her mouth. We're seeing her resort to hand-feeding a lot more often than she did just 3 months ago. We know we're utterly blessed to have a 5 1/2 year old daughter that still walks, RUNS even, that can feed herself normal table food, and who can verbalize sounds and a handful of words. We're blessed that Ellie so quickly figured out eye-gaze and that at some point in the next few months, Ellie will get a "talker" that will allow her to have a voice!
The other struggle we're having lately is seizures, or at least they seem to be seizures. They're occurring anytime that Ellie's woke up from a deep sleep. She appears 'out of it' and different parts of her body shake. Her eyes pop wide open and roll up, legs and arms go stiff, she arches her back and her head is pulled back, most often her fingers look like she's typing or playing piano as they jerk and flinch. It's probably the toughest thing to watch. I've seen it dozens of times and still every time I panic inside. I avoid waking her but there are sometimes when just the slightest noise or movement causes the reaction. It makes me so glad that we have an appointment with Dr.Khwaja next month. We're really needing some peace about these events.
Our appointments in Boston were rescheduled until December because Dr.Khwaja needed the month of November off. The schedule shift actually worked better for us, since Nicholas will be home for the other two girls. Our Miracle Flights as well as our lodging were able to change our reservations without extra charges - another blessing! We're praying Dr.Khwaja can give us some answers about the fine-motor losses as well as the apparent-seizures. We know we'll be in good hands with Dr.Khwaja and his staff!
I can't believe it's already November and Thanksgiving is in 2 days. Not sure where this year went or how we've survived it at all. I know I never could have made it without friends lending their shoulders and words of support and love or without God to carry me when I was just plain too crushed to walk. To think that 7 months ago we got the call that Ellie had Rett and to think about what we've learned and all the things we've seen change. I know God uses "stuff" on this Earth to mold us into the people he wants us to be. If we're confident in our own strength and ability, we aren't as easily used by Him. This season of life has changed Nicholas and I, our entire family really. I turn 30 this weekend, which just is kind of the cherry on top of 2011. I don't feel old, I feel seasoned, refined, broken, molded, driven, and imperfect with character like an antique dresser.
I pray you feel blessed and loved this Thanksgiving. We all have so much to be thankful for.
~Angie
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