Ellie is standing looking out the window to the pasture as I sit here typing. She's "talking" and pointing out the window. I know she's talking about the cows and Emma's horse Lacy. She loves these critters! Her eyes sparkle as she points and talks. It's a lot of "moo moo's" with points, nods and smiles. I respond just as if she'd told me that Concord just bumped Lucy and that little Layla has really gotten big. She smiles because she's happy that I treat her like a big girl, she's happy that she gets a turn to express herself. Her favorite buttons on her eyegaze are "can I have a turn" and "excuse me" followed by something she wants to interject. (Ellie moved to a 45 button PODD system on her talker and is ROCKING it! She's saying so many things that we never would have heard without it! Serious BLESSING that talker is!!) I'm awed by how effortless this kind of communication is for her and by how satisfied she is with my responses. She could easily be frustrated with me because my response is not exactly appropriate for what she was saying. Today she's not, today she's all smiles and nods with her long pigtails bouncing as she nods.
I interrupted our talk about cows to tell her how beautiful she is. She stopped talking and looked up and me with a big smile. She looked down for a couple seconds and fidgeted with her hands and then looked up grinning again. I told her how she has the smoothest cheeks and the prettiest skin color. How her sparkling eyes make everyone smile. She grinned again and turned back to the window. I saw how similar her response was to the other girls, to most girls really.
I started thinking about how frustrated I get with her at times. Like yesterday when she pulled my sweet potatoes out of the ground and tried to feed them to the birds. Or like a few days ago when she squeezed the bunny until it died and in the same day plunked another bunny into a tank of cold water, nearly drowning it. I thought of how hard and frustrated life is from her side of things. That maybe her behaviors really are a cry for attention or an expression of a need.
It makes me think about how I really don't know what hard is. I think about my running adventure (I'm planning to run a 1/2 marathon on Sept. 2) and how motivating it is for me to think of Ellie when I get to a tough spot in a run. When all I want to do is quit and give up, I don't because I know Ellie probably feels the same way and she perseveres. IF YOU WANT TO DONATE Along with a couple other gals, we are actually going to be the chairs of the Step UP 5K & 1/2 Marathon to take place on Sept. 2 at 7:30am. If you'd like to join me as I attempt my first EVER 1/2 Marathon, you can register HERE! I would love to get to run alongside of friends and supporters! Proceeds of the race will go back into a fund to purchase chip timing equipment for use by the Storm Lake Running Club.
I think about how empty life would feel without Ellie. I don't mind how much she needs me, we're used to it I guess. I read another Rett mom's blog this morning (READ IT HERE) and thought about how right she is. I share so many of the emotions and thoughts that she wrote about the possibility of losing Ellie. It's terrifying and yet we cannot live in fear. We have to press on, trudge ahead, survive and maybe even rise above surviving!
This week we will leave and travel to John's Hopkins for a clinical trial. It's not a big trial that we think will cure Rett, but it's a trial that they're seeing improvements with. We're hoping that our participation will help Ellie and we're also hopeful that our contribution to the research will help researchers better understand how Rett works. So please take some time this week to pray for us. Pray for safe travels and for our van to function as it needs to and for the success of this treatment for our precious Ellie!
Thanks for reading and for being a part of our lives. Thanks for supporting and cheering us.
Wednesday, July 25, 2012
Wednesday, June 20, 2012
6 years old already
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
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, 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.
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