My Life With Rett
I have a disorder called Rett syndrome.
We must not allow other people's limited perceptions to define us.
~~Virginia Satir
Welcome to my homepage. I hope you'll find it interesting and helpful with all of the hyperlinks I've added. My name is Danielle (but my parents, Leo & Connie, call me Dani) and I am almost 21 years old. I live in Bartlett, TN (a suburb of Memphis) in a house with my mom and dad.
My mom was the TN Regional Rep for the IRSA and
you can write to her at:
mailto:Fromconnie@aol.com
if you want more information about Rett syndrome.
Rett Syndrome (RS) is a neurological disorder seen almost exclusively in females, and found in a variety of racial and ethnic groups worldwide.
First described by Dr. Andreas Rett, RS received worldwide recognition following a paper by Dr. Bengt Hagberg and colleagues in 1983.
RS is most often misdiagnosed as autism, cerebral palsy or nonspecific developmental delay. While many health professionals may not be familiar with RS, it is a relatively frequent cause of neurological dysfunction in females. The prevalence rate in various countries is from 1:10,000 to 1:23,000 live female births.
I was first diagnosed at 2 years as having Cerebral Palsy (CP) with severe retardation. Thank God my mom never believed that ! I was almost 11 before we got the correct diagnosis of Rett.
The child with RS usually shows an early period of apparently normal or near normal development until 6-18 months of life. A period of temporary stagnation or regression follows during which the child loses communication skills and purposeful use of the hands.
I turned over at 3 months, could sit at 6 months without assistance, but I never tried to pull up to walk. My mom started taking me to a group of doctors because she "felt" all was not "right" with me.
I did walk in a baby walker for almost a year and then the docs I was seeing told my mom that I was too dependent on the walker and to take me out of it. They kept assuring her that I was perfectly "normal". She kept insisting that I was NOT. I had already started hand-wringing.
Well, I wanted no parts of the walker after that and soon realized that all was "not quite right" in my world.
Soon, stereotyped hand movements, gait disturbances, and slowing of the rate of head growth become apparent. Other problems may include seizures and disorganized breathing patterns which occur when awake.
When I was almost 3 years old my mom & dad finally got a referral to a neurologist who sent me to the CDC here in the Memphis area.
I am really happy that my mom never thought I was "retarded" because she has helped me learn so much I may never have learned. I can read, write my name with assistance, do math, and every now and then I still talk. My seizures began at the age of 10, shortly before we got the correct dx of RETT
Apraxia (dyspraxia), the inability to program the body to perform motor movements, is the most fundamental and severely handicapping aspect of RS. It can interfere with every body movement, including eye gaze and speech, making it difficult for the girl with RS to do what she wants to do.
Due to apraxia and lack of verbal communication skills, an accurate assessment of intelligence is difficult. Most traditional testing methods require use of the hands and/or speech, which may be impossible for the girl with RS.
I began having screaming episodes at about 3 years old and they lasted almost a year. My mom now realizes that I was frustrated that I couldn't do the things I wanted to so I screamed. I could send people out of their chairs with my ear-piercing scream.
The gene that causes Rett, is MECP2. And there is a blood test to confirm the clinical diagnosis.
Barring illness or complications, survival into adulthood is expected
You must be remember that all girls are different and may not experience all of the characteristics of Rett syndrome in the same way or at the same time. As much as we are alike, we are different too. We have our own unique personalities and do things at different times.
My mom & I have tried find all of the angel places we can. My mom wonders if I'm not really an angel, but I won't tell her for sure (it's good to keep her guessing).
One of my favorite quotes about angels is ~
My delight and thy delight,
walking like two angels white~
in the gardens of the night.
(Robert Bridges)
I like this cause it kind of describes what I do at night.
My mom calls it sleep~soaring.
Some call it "out of body" experiences . . .
I call it fun !
Back to my story . . .
As I said, was almost 11 before we got the correct diagnosis. My parents were devastated because I fit not only all of the criteria necessary to make the diagnosis, but also all of the supportive criteria (which may be present but is not necessary for the dx). I was already in Stage 4 and had lost the ability to walk, to talk, and was quickly losing other skills. I have classic Rett syndrome. Yet it answered so many of their questions too. The part that upset them was a lot of girls die from Rett or complications that Rett can bring. I was just happy they finally knew why I couldn't do so many things anymore and they finally left me alone. I mean they didn't try so hard anymore to make me walk. I never did figure out what the big deal was with walking when I could be pushed wherever I wanted to go anyway. They still made me do all of the P/T and O/T stuff though so that my muscles wouldn't atrophy.
I did walk though for almost 3 years on a child's walker. It was fun at first, but then Rett started making it harder and harder for me to do it, so I just quit one day. I was 7 when I quit. Besides, it's much more fun being pushed in a wheelchair then walking!
Having Rett is kind of like having a short circuit in your brain (a lot of that has to do with Apraxia), you hear, see, smell and experience everything just like anyone else, all the information goes in, it just takes us Rettchicks longer to process it and answer back. You can't throw too much at us at once or we'll zone out on you. Some call these zone outs, episodes. Call it what you will, we will not answer you.
Once Rett started really taking over, my body stopped cooperating with my brain. Kind of like a short-circuit like I said before. I also developed scoliosis/kyfosis which has changed the way I look.
My mom and I have met a lot of really neat, caring folks on the Internet.
The most interesting thing about Rett is what we Rettchicks do with our hands. Some of us hand clasp, hand-wring, hand-wash, clap or a few of us do what I do, it's really amazing to me.
There is one little hint I'd like to give to those folks who don't know anyone who is differently-abled~~~ just cause we may be in a wheelchair, or don't talk, doesn't mean we can't hear . . . for some reason people are always shouting at me?
And another thing is people often underestimate my intelligence just because I can't orally talk. A lot of folks think just cause someone can't talk they aren't smart, so never assume that because someone can't talk or can't hear, or whatever may be their "societal shortcoming" that they aren't intelligent. We are !
And as much as we Rettchicks are alike, we are also different. Rett seems to hit some harder than others. Many of the girls/women still walk, some still talk and a few are going to or have been to college. And eventually, with a lot of help from therapists and our determined parents, we find a way to communicate. I use my left hand to sign YES and shake my head for no, or say, uh-uh. Sometimes now my mom says I talk too much. I do have my opinions on certain subjects. Like what she thinks I'm going to wear & what I really want to wear.
Of course, it takes rettchicks longer to do things than most. We have to process the information being thrown at us and weed through it before we can answer. So give us more time than you would most people, we are "in there".
We who have Rett syndrome absolutely love music.
Love & Angeldust,
Dani
