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.

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

There are a number of other problems common among those who have Rett syndrome.  But having these problems is not necessary to get a diagnosis of Rett syndrome.  These problems can include:

• 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.

For more details on symptoms of Rett syndrome and other associated problems, see What are the typical features of Rett syndrome? (PDF - 697 KB) in NICHD’s Rett Syndrome publication.

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.

Most girls with Rett syndrome live until adulthood.  They will usually need care and assistance throughout their lives

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.

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

Miracles Happen Everyday

Too often when I come here to write it's out of frustration or to VENT. 
Today I'm here out of EXCITEMENT AND GRATEFULNESS!

Ellie and I are traveling to BOSTON in November to see Dr.Khwaja; a neurologist and Rett Specialist. EXPERTS like Dr.Khwaja are hard to find for things as rare as Rett Syndrome. We are so THRILLED that Ellie gets to see Dr.Khwaja! He is the lead investigator on the IGF1 Trial!!

Sooo...
     My sister-in-law sent me an email linking several non-profit groups that help medically needy kiddos. 
                                                 www.MIRACLE FLIGHTS.org
                                                                                      was one of those links.
After a couple days of paperwork and getting Doctor's signatures...
                  I'm THRILLED to tell you that we just got our CONFIRMATION EMAIL.

Our flights to Boston were purchased by MIRACLE FLIGHTS!  Not having to pay the $600 for our tickets will make this trip AWESOME!


We are so thankful to the people there that CARE enough for our kiddos to do fundraising and volunteer their time!  

Miracle Flights will now be on our list of organizations to support and I hope our friends and followers will do the SAME! 


 
 

The Talker

Can I just say, "EchoPoint, Our family is in love with you!"
Ellie's trial speech device, the EchoPoint2, has been with us for about 4 weeks. I've never seen something so amazing! The device is calibrated to Ellie's eyes and when she stops and "gazes" on a picture for more than .7 of a second, it speaks the voice output programed into that picture. Within minutes, the first time trying the device with Ellie at home, she was opening new picture files and making choices. It's been incredible and validating for our family to watch her express preferences and needs. She's in there, she really is, she just can't get the words to come out verbally.

The second interesting thing about the EchoPoint is that it's a touch/eye gaze device. We've been baffled watching her try to use the device with her hands. If I place the device so that Ellie can touch it, she will. What's interesting is that she'll hit the same button over and over again. She doesn't  vary her choices, or open new sets of pictures or menus. She's limited to basically the first page with 15 pictures. When she's using eye gaze function, she can zip through 5 menus of 15 pictures each, making choices and communicating along the way. I know it's a bit hard to comprehend so I'll attempt to explain.

When turning on the device, there are 15 pictures. Some of them just speak, while others open a completely new set of 15 pictures. They're organized by topic, location, items, etc. For example on the main page is "pages" and activating that key opens a new page of 15 buttons. On the new page one button is "school" and by activating the "school" button, a new set of 15 buttons appear. Within that set there is a button for "center time" that opens 15 new buttons, each of them a choice that Ellie can make for her center time activity.

One day as I was getting dinner on the table I casually said to Ellie, "Why don't you tell Emma about school?" As I walked into the kitchen I heard nothing until "library center, library center, library center." I came in to see that Ellie had activated "pages" and then "school" and then "center time" and then "library center" multiple times. I had attended school that day with Ellie and she had chosen to be in the "library center" for the duration of her "center time."

Amazing! Ellie could not express this other than through her device. We feel so blessed to live in the technology era. The device we've had has been a trial and soon we will be without it again. We're working on purchasing one of our own but we've learned, through experience, this takes time when dealing with insurance companies. We're praying that the process moves smoothly and quickly, for Ellie's sake. Now that we've seen how clearly she is able communicate with her device, we don't want to see her without it.
Thanks for following us on this journey of life.

It's been 3 years last week since my Grandma died. Thinking about her makes me cringe and smirk all at once. Gosh I miss her spunk, her perseverance, her passion. Several years ago, while Grandma was still living, an attorney and I were talking and he mentioned something Grandma had done or said. I remember thinking, "Oh Grandma." and shaking my head. I'll never forget what Hugh told me. He said his father had told him years before that she was a "survivor." I've thought of that moment time and time again.  For some, she was too strong and opinionated; for most probably. Still, thinking about our years working and doing life together, I smile and miss her.

I wonder, just as I have for the years since Hugh said those words, which experiences made her a "survivor." Was it doubling the number of children she had by adopting 4 more while her own were still small? Maybe it was working at the packing house, or driving a straight-truck hauling seed-corn. Perhaps it was opening her own real estate office in 1981 and surviving in that market for more than 25years? Could it have been losing grandpa? Being alone for 10 years before marrying again? Maybe it was taking on the fight with ovarian cancer, and beating the odds. Was it spending her years working with people who didn't speak her language, needed help with everything from credit and immigration to jobs, children, and rides? Maybe it was her passion for serving and sharing her faith in a culture so wrapped up in being "politically correct."

Grandma was an amazing, spitfire, loving and passionate person. She never was afraid to speak her mind and tell people exactly what it was that they should be doing with their lives or their children. She loved people she didn't even know because she knew they needed loving. I've come to the conclusion that Bill was right about Grandma, she was a "survivor" but she did so much more than survive, she really loved in a way many are afraid to do. I only hope one day I can do the same.

Big Sister Emma

On the way home from town tonight, Emma told me that today she made a note for her teacher.

Nothing too out of the ordinary for a 2nd grader, right?

Tonight she told me what the note said...

Someday I'm going to be a neurologist or a rett syndrome doctor. 

My little sister, Ellie is 5. She has rett syndrome. Most 5 year old girls with rett syndrome can't walk or use their hands. They have to be in wheel chairs. My sister CAN walk but she can't talk. 

....Emma told me that she hasn't talked about Ellie at school this year. She said it was easier for her to write this note to her teacher than to explain about Ellie. Tonight when I went to tuck Emma into bed, she was reading her gigantic "Human Body" book; looking at a two page spread on cells. She told me it's her favorite part of the book. It made me smile. I told her that there are special doctors that do research on cells just like that all day long. Her eyes lit up as she said, "REALLY?!" I looked at her and envisioned, an all grown up, Emma in a white lab coat standing over a microscope and I thought, "Someday you'll be working to cure the diseases of this world... but I really hope Rett is long gone by then."

Missing Grandma Today

I've had "one of those days." Today would have been my Grandma Clara's birthday but she's passed away. Feels like just months ago but it's already been almost 3 years. We shared an office for 6 years, I learned so much from her. We were more like best friends or sisters than grandmother and granddaughter. The past few weeks have been tough on me and before when things were tough I could go sit with Grandma and we could figure it out. I really miss that.

We've had lots of changes happening. I'm just feeling sad, maybe it's that I'm finally letting myself digest the past several months. Maybe it's that some of those things are coming to a head and I just can't shove them to the back of my mind any more. We moved back "home" last week but it just doesn't feel like home. The landscape is so very different and all that's left is our house. Compared to the plethura of buildings that previously dotted our little corner of the world, it feels so empty. Last week, Emma started second grade which officially ended summer. Ellie starts school on Monday <sniffle> and I'm just plain not ready. I love her teachers and her room looks wonderful. I have every reason to be hopeful and excited about the opportunities she's going to have there and I am. I'm just struggling I guess, especially today.



Nicholas cannot handle when I show emotion.  Apparently, I'm too opinionated and passionate and I need to just shut up. (I blame you for those traits Grandma.) I swear I've always been this person. I specifically remember trying to convert my middle school peers from Buhdism to Christianity, having heated conversations about abortion all throughout school, leading a bible study for my peers as an 8th grader, and always advocating for immigrants. I'm not sure how all of that suddenly gets to him and makes me over the top. Maybe I've intensified with age?! It doesn't matter who's changed or what's changed, I get that. I just really needed to vent and pour it out because if I don't that thread I'm hanging onto might break.