August 10, 2009

Rett Syndrome

We got a call from Nora’s doctor on Friday night. We have been waiting for results since her appointment on July 7th. At that appointment they took 7 vials of blood for a battery of tests, one of which was for a gene mutation and collection of symptoms that are known as Rett Syndrome (RTT). Nora’s test for RTT came back positive so she definitely has Rett Syndrome and not autism, cerebral palsy or any of the other disorders that matched her symptoms.

RTT almost exclusively affects girls. A child with RTT is usually born healthy and shows mostly normal development until 6-18 months, where skills and development begin to slow. After this, the child may regress and lose communication or motor skills. They may have disorganized breathing patterns, seizures and will have abnormal hand movement (hand washing/wringing, tapping, patting). Over time, motor problems may increase but communication and interaction may improve.

It’s impossible to predict the severity of Nora’s symptoms but she will probably require special care and attention indefinitely. She will suffer from some level of Apraxia (inability to perform consistent motor movements) which can make it difficult for her to move, make eye contact, and speak. Here are the stages of RTT (not all girls move through all stages):
1. Stage I: Early Onset Stage (6-8 months)
2. Stage II: Rapid Destructive Stage (1-4 yrs)
3. Stage III: Plateau Stage (preschool to adulthood)
4. Stage IV: Late Motor Deterioration (from time ambulation is lost on...)

It is impossible to gauge the intelligence of RTT children because intelligence tests all require the use of hands, communication or other normal skills. However, it is clear that RTT kids experience the full range of emotions. Unlike some autistic children, they prefer people to objects and enjoy family and friends, even if they can’t interact normally. Some girls with RTT can communicate [somewhat] normally. Others can learn to communicate using computers, etc.

Life expectancy in RTT is not entirely known. RTT is rare, newly recognized as a disease (relatively) and is hard to retroactively diagnose in older patients due to missing or incomplete medical records. Girls with RTT have a 95% chance of survival into their twenties (compared to 98% in all females). Between ages of 25 and 40 the survival rate drops to ~70% compared to 97% in normal females. These are mostly predictions based on a fairly small group of identified cases. Only ~5% of RTT cases have resulted in death. 95% of those diagnosed are still living.

RTT appears to be a sporadic mutation and is [apparently?] not hereditary. The chances of another one having RTT is much less than 1%.

There is a variety of information on the internet and [GASP!] not all of it is accurate. The best information can be found here:
http://www.rettsyndrome.org/

Obviously, this was not the diagnosis that we were hoping for. However, we have been prepared to face the facts that Nora is significantly disabled and we took steps a long time ago to start seeking additional help for her. While finding out that your child has RTT is shocking and sad, it is nice to have a diagnosis. We now have direction and can focus on the care that will help Nora the most. Despite the physical and communication barriers she already faces, Nora has developed a sweet and silly personality. We’ll be there to help her overcome what she can and she enjoys lots of love from her family and friends.

26 comments:

Anonymous said...

Thank you for sharing all of this with us. We certainly do love your little ones-- sweet, silly Miss Nora and gregarious, little-man Coen. Our babysitting offer stands, just give us a call. :) Brian and Kosha

Kelly said...

Hi!
I came across your blog because I get Google Alerts for Rett Syndrome. I just wanted to stop by and say hello. I am a mommmy to a wonder little Rett Syndrome gal myslef. Her name is Brooklyn - she just turned four this May. I have kept a blog since before we received our diagnosis - it has lots of information on there that you might like to read about. Hang in there - Rett Sydnrome is a tough diagnosis to swallow but man, our girls are amazing. Brooklyn has touched SO many lives!

Jennifer said...

So sorry to hear the sad news, but really glad you finally have a diagnosis. We're holding you guys in our thoughts and prayers, with lots of love. :) Glad we get to keep up with you through your blog.

Love,
Pete & Jenni

Jocelyn said...

We love you Nora-Badora!
I was actually going to try to interst you in a 'kid swap' some time. I thought it might be fun to drop our kids off so you guys can do some artsy-fartsy stuff with the girls, while we hang out with Nora and Coen. We'll have to chat about it some time...just had the idea Saturday.
Hugs and Kisses.

Mo said...

I echo what Brian & Kosha wrote --thank you for sharing this & especially posting information about Rett Syndrome. I heard this news yesterday and my heart has been with you since then. I was glad to be able to read your post and understand better what Rett Syndrome is. Nora and Coen are both adorable little munchkins with special parents! Hugs & love, Mo

Anonymous said...

A very informative post for those (most) who have never heard of Retts. One thing about it, our little Nora is much loved. She also has a little brother who loves her so much already and who she obviously loves very much. Love Gramma Myrna

J said...

Brooklyn and Kelly: Thanks for visiting our blog and for your encouraging thoughts. Your blog looks very informative. I will read more when I'm not working :P

Jason, Sarah, Tristan, Wade, and Owen said...

Thank you for sharing all that information about your precious little girl! Although we still haven't gotten to meet your little bundles, I can tell that they are very special!

Anonymous said...

Thanks for sharing this.
We're sorry to hear it all, but
glad that you now KNOW what you're
dealing with, and have a direction
to go. Hang in there.
You have a wonderful little family!
Keeping you all in our prayers.
If we can help in any way, please
let us know.
Kathy & Eric K. (in IA)

Jen said...
This comment has been removed by the author.
Jen said...

That was MY deleted comment. I didn't feel as if I worded things correctly in what I wanted to say, so I'll try again!! :)

I can only echo what everyone else has said...you have been close in heart and mind since I heard about the diagnosis, but I'm SO glad that now you KNOW. It won't make the journey easier, per se, but it's a place to start in giving little Miss Nora-Badora the care she needs. It's been great to see how much her PT programs have helped her already, so I look forward to seeing more progress in the future. She's one special little gal!!! But, I'm sure you already know that. :)

Anonymous said...

I do want to thank you for sharing Nora's test results with us. It helps us know the facts and we can think of you and HOPEFULLY know how to be an encouragement to you. Nora is a special little miss with special parents. Linda

Aunt Deb said...

Justin,
Thanks for sharing the info about Rett Syndrome. I had never heard of it before. By learning more about the disease, it will help us know better how to interact with Nora. Our love knows no bounds and it extends to your precious family without measure. I'm glad we will be seeing you at least twice a week in mtg....I hope that doesn't change for a long time. :)
Love you,
A. Deb

Anonymous said...

As a parent who has lived in the Rett world for many years, I'm always sobered by the announcement of another newcomer. But compared to autism and many other disorders, research on Rett syndrome is moving rapidly. There's an excellent video that makes the science very accessible to a lay audience at http://rettsyndrome.wordpress.com/
Blessings to your little girl.

Elizabeth

Doris said...

Hugs to you all, I'm Doris, my daughter Edda has RS and she is 5. I remember so clearly the day we got the blood test back. We are good buddies with Brooklyn and Kelly who commented a while ago... There is a good online (and offline) support community. I would be lost without them.

Anonymous said...

J & K,

Thinking of you and the family. Wish we were still only a few doors away.

Nora is very privileged to have such a loving family and awesome parents surrounding her! We also feel privileged to know Miss Nora and family.

Thank you for sharing this with us.

Nate and Ralna

Michelle said...

Justin and Kristi,
Our thoughts have been echoed over and over in the other comments - we are thinking of you so much as you start on a journey with Nora that is so different than you would have ever planned.Perhaps there will be unexpected beauties along the way.Your proactive nature to learn and find what is best will be to her benefit. Maybe the most beneficial thing to her is the family she is a part of, immediate and extended.

Please know that we are thinking of you all.
Morgan and Michelle

Anonymous said...

To quote Dr. Rett himself, "These three words summarize best our task: To live, to love, and to learn." Nora will help all of us do those things better. Thanks for the recent pictures...I have one on my nightstand - it makes me smile! We'll do whatever we can to help.
Love from Megan and Monte

cheyest said...

Justin & Kristy -

We love you and your little family. We will miss you so much and I do wish we could have been home Sunday. It must have been a very special meeting.

John & Esther

Lisa McConnell said...

My feelings are the same as others. My thoughts have been with you since we heard about Nora's diagnosis. So glad she has a loving family (extended too) and great friends that will be a huge support system to her and you all!

Anonymous said...

Thanks for sharing your news. We feel a special bond with this precious little soul. Her silent, trusting eyes win our hearts over and over. I think we all wept when we heard the news. And then, we thot, "Nothing's changed! This is still Nora. But now we know the label that may help open the door of communication with her." You 4 make our hearts glad. Jan and Joe

Unknown said...

Thank you for being so thorough in your descriptions. You are so good at that! The bittersweet experiences do come and we sure have thought of you since your trip to Denver. Glad to hear you've heard from the Drs. and can begin moving in a direction that may feel more stable rather than the big UNKNOWN! You have a beautiful family and we always enjoy seeing you!
Lisa and family

Wifey said...

Thank you all for your kind thoughts, encouragement and support. It's very heartwarming.

Anonymous said...

Thanks for the call. We have been thinking of you all so much. If you ever need anything just let us know.
Allan and Amber

MB said...

I'm not sure how I ever got started following your blog (friends of friends kinda thing) but I have enjoyed it for a couple years off and on. Even though you don't know us I want you to know we are thinking about you and your little one up there....

Craig Watson said...

Justin and Kristy,

I only caught this today, nearly 2 weeks after you posted. Mine and Christy's thoughts and best wishes are definitely with you guys.

You know, I don't normally like to throw out sugarisms when I hear of bad fortune, but your situation brought to mind a story I heard about the moment the Buddha awoke to enlightenment. It's said he opened his eyes, looked around and said, "Wonder of wonders... everything is perfect exactly as it is..."

I want to be completely clear that I don't type that disparage the seriousness of Nora's condition, but instead because I think it means through the right eyes and from the right perspectives every situation can be handled. And if ever I met a couple with the strength and optimism to take something like this in stride, it's you two.

Please give Nora a big kiss and cuddle from Christy and I.