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Hi, I'm Lisa and I have Rett Syndrome. I am unable to speak as most people do, but I can speak volumes
with my eyes. I want you to know all about me, so my Mom will tell you my story.
How do you go from this.
To this, in a few short months?
Rett Syndrome!
Lisa's story began in the early morning hours July 21, 1967. I was awoke by our dog barking
and went downstairs to quiet it. When I went back to bed I decided I was in labor and woke Delbert up to head
for the hospital. My Aunt Kate was staying with us to watch the other girls. We checked into the hospital at 1:00 a.m.
and Lisa arrived breach at 2:40 a.m. with no complications. She weighted 7 lbs. 11 1/2 ozs. and 20 1/2 inches long.
Lisa seemed pretty much the same as our other babies. Kept you up at night for the first 6 weeks! She ate well and
had more than doubled her weight by 3 months.
As you can see at 2 months she was filled out good! By 6 months she was a whopping 25 lbs., but that's
when her weight gain stopped and at 1 year she was still 25 lbs. and never gained more until she was 3 years old. She was a little
delayed in turning over from stomach to back. (5 months), and didn't pull herself up until 1 yr. 3 1/2 months. She crawled at 1 yr. 8 months
and didn't stand alone until she was 2 years old.
However she spoke her first word at 8 months and was saying several words by the time she was a year old. Her speech was very clear
and no baby babble. She said such words as pretty, baby, duck, mama, dada, Lisa Beth.
She weaned herself from the bottle at 10 months. She would gag if she even saw a bottle. It was around
this time that we became concerned because she wouldn't put any weight on her feet, her legs
were just like rubber, so we took her to the Kansas Crippled Childrens clinic in Wichita. The Dr. wasn't concerned, said she was
just a big baby and we probably let the kids tote her around. Never did that!!! She had flat feet like her sisters, so he put
corrective shoes on her even though she wasn't putting weight on her feet.
During the next year she progressed to the point of putting weight on her feet and stood with help. She also finger feed
herself, played with toys, turned wheels on her riding toys and even crawled over and turned a gas knob on at a relatives house.
We noticed her eyes beginning to cross, but wasn't too surprised since both her sisters had eye problems.
At two years old the doctors finally agreed that something wasn't right and she was admitted for test. Their conclustion was that
she had CP. When we asked what we could do, the Dr. said "That's what the state hospital is for" That was the only answer we got!
She continued to see dr. at K.C.C. and I started reading up on CP and decided nothing fit! So at 3 years I got her in to K.U. med. center for
an evaluation. After two weeks of testing their conclusion was that she did not have CP, but they didn't know what she had since
all her test were normal. They said they had never seen a child like her before. One doctors opinion was that she could do much more than she was, and her parents were doing too much for
her, and that she had noticed that her mom had picked her up when she held her arms up to her!! I didn't read this report until a few
Years ago.
By this time she was beginning to walk, but had lost all speech. It was so gradual that we didn't notice that it was going. We thought
it was maybe because she was trying so hard to walk. She had begun unusual motions with her hands and lost purposeful use of them, she also seemed to have little feeling in
her hands. She no longer followed instuctions such as "go get your pillow" and playing "peek-a-boo" She begin long periods of rocking back
and forth and repeating phrases of Ah's..Abba Da Da..and Bee Ba Ba.
Over the next years she made clicking sounds with her throat as well as teeth grinding.
She became less inerested in her surroundings and aquired more Autisic behaviors: Less eye contact, screaming, laughing at nothing, and
she contantly walked around the house making noises. She would often get up at night and walk around the house laughting. I would eventually
put her in her beanbag chair and turn music on and she would go back to sleep. She also started hyperventilating during this time.
Scoliosis started developing at 7 yrs.
The early years.
    During her teen years the screaming slowed for awhile but she didn't like being in crowds or noisey places,and
the screaming could almost be unbarable at times, especially in the car. We learned to control this somewhat with food or
her favorite wind up toy. It was very hard at times to take her to any activities at school etc.
Breath holding increased around 16 and she would hold it for as long as 1 1/2 mins. then hyperventilate and repeat over and
over for hours and turning blue. She was braced at 14 for her scoliois .
She had her first seizure at 16 1/2. Lutque rods were put in at 18 to correct her 2 curves that had progressed to between
50-60 drgrees.
All this is not without some humor. When she was having her turning blue spells she was also putting her hands in her mouth
all the time. One Sunday at church my husband came to get me from a class to tell me that Lisa was really blue! around her
mouth and going up her fingers. There was also a nurse there at church and we decided we needed to take her to ER. We got there
and everything was normal and I got to thinking....how can this be...her so blue and BP and everything normal. Then it dawned on
me!!! She had on a new dress I had made her and it had a bluegray background. She had gotten her hands wet in her mouth then
rubbed on the dress and back to her mouth. When I told the nurses what I thought it was, they didn't believe it until they got
a wash cloth and washed it off!!!
It was when she was 18 that my sister called me and told me about a little girl in Kansas City that sounded just like Lisa. She
has seen her on the news and got the name of the mom so I could contact her. She then gave me the phone no. for I.R.S.A. and I
called and had some information sent to me. When I read it, it was like I was reading about Lisa! I knew then she had Rett
Syndrome. There were no drs. in our area that knew anything about it at that time, so I sent her history to Dr. Alan Percy in
Houston. His reply was that he was sure she had Rett Syndrome and would see her if we wanted to. At that time we just couldn't
make a trip like that, and we were already doing the only things we could for her.
It was two more years before we found a
Dr. at Children's Mercy in Kansas City that could diagnosis her. Finally we knew what we were facing.
After Lisa left school at 21 there were no programs for her so she stayed home with us and rode with me on the bus when I drove my
route. It became more difficult to get her up the steps as time went on.
She really didn't like going anywhere and would scream just about as soon as we got there, so we took turns going to school functions
and other things for the other kids.
There were several things we considered when we decided to try a out of home placement for her when she was 25. That worked okay for
awhile. We saw her every week and had her home on weekends and holidays.
She begin to have health problems at 28. A broken toe followed by a Stress fracture. She then refused to stand at all and has been
immobile since. A few months later she begin choaking on her pureed food and had a G-tube. A few months later had a Nissan Fundoplication.
Her health was pretty stable for the next few years, except for having to have cataract surgery on both eyes.
In 1999 the gene was discovered that caused Rett Syndrome. Her blood was already at U.C.L.A. for a research project and was tested for the
mutation. She was positive and her mutation is 754delG.
We moved her to a group home closer to us and she was there until her health begin to decline again. She had aspiration Pneumonia four
times in six months. The dr. wanted to put in a Trach tube and put her in a nursing home. He said she would only get worse and she was
"In an end of life situation" We told him no and begin to make arangements to bring her home. We had to make some modifications to the house
and get lifts etc.
since she now weighted 176 lbs. and we could not lift her ourselves.
She has now been home almost 3 1/2 years and only one serious sickness. Has taken a trip with us to Las Vegas to see her sister and surprised
us one day when we left a cup too close to her by picking it up and trying to drink from it. We also found she still remembered how to use
a spoon even though she hadn't ate by mouth for over 10 years! We now give her a little pudding every day for a treat and she does fine with it.
Likes to lick a sucker too.
I like to think of Lisa as a butterfly. That's why I chose a butterfly theme for her page. She may be in a cocoon now,
but some day she will Fly. And if you notice what's in the middle of Butterfly spelled backwords? ylf rett ub.
Lisa is a blessing to have with us and we enjoy her so much. Just to see her smile makes you feel so good. She goes everywhere with us. We take
her to church three times a week and shopping. She likes riding and looking at things. We also take
her camping with us. She no longer screams and the only time she gets upset is at some songs. We have'nt be able to figure
out just what it is about those songs, pitch, words, how loud? There is nothing consistant except the tears if she don't like them.
How long we'll be able to do this is unknow, but we're
going to care for her as long as we possibly can.
Rett Syndrome is a developemnetal disorder seen almost always in girls. It is considered
a regressive disorder rather than degenerative as first thought. It is caused by a sporatic mutation of
the MECP2 gene that is found at the end of the long arm of the X chromosome. It is responsible for telling other genes
when to come on or stay on at the right times. When not working properly it causes improper development of the
central nervous system.
What causes the mutation is not know. Studies have not revealed any pattern in exposure to chemicals, radiation etc. or
area you might live in. It happens in all races and all countries.
There seems to be normal developemnet from about 6 months to 18 months follow by regression where they lose speech, hand use,
and stereotyped hand movements, slowing of head growth, gait disturbances. Other problems that may follow at some point
are, seizure, disorganized breathing patterns, screaming, crying, Gastrointestinal problems and scoliosis.
Diagnosis is made by a clinical test they now have as well as developmenatl history. It is believed that Rett Syndrome occurs
in approximately 1 in every 10,000-23,000 live female births.
Those affected can live into their 50s or 60s depending on the severity of the disorder. The leading cause of death is
is "unexplained" second leading cause is pneumonia, caused mostly by compromised lung function due to scoliosis and aspiration.
There is not cure, but research is getting very exciting! Visit the International Rett Syndrome Foundation for more information.
There is a link at the top of this paragraph.
 Support Rett Syndrome Research
Another devastating disorder
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