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