A Rett Mother’s Story
Lara and Abbey
I was young and unmarried when I discovered that I was pregnant. The father of my baby tried to force me to have an abortion, but I refused. He even went so far as to offer to pay me. When I still refused, he toldme that he wanted nothing to do with “it” and that our child would suffer for the rest of our lives if I went ahead with the pregnancy.
My pregnancy was perfect. I drank no alcohol and I ate well. The birth itself was rather traumatic, but that is another story. Abbey was a beautifully behaved baby though a bit slow to meet every milestone.
Just before her first birthday I took her to the doctor because she was ill. At that point the doctor suggested that Abby might be mentally retarded. An MRI was done but came back clear.
An appointment was made with a pediatric neurologist, who said that there was shrinkage on the left side of her brain caused by lack of oxygen during the birth process. He diagnosed Abbey with Cerebral Palsy.
There were so many tests. It seemed as if there were millions of blood tests and urine tests as well as many others. I was confused and frightened. After her last vaccination she developed a high fever, but when I called the doctor, she just said I was over-exagerating. Naturally, I went off to my local GP who provided antibiotics.
From the GP’s rooms, I went over to a nearby Spar shop. Abbey had been sitting in the trolley eating a chicken nugget when suddenly her eyes rolled back and she simply stopped moving. I checked for food in her mouth in case she was choking, but there was nothing. Her breathing stopped and she turned blue all over and became ice cold.
I was absolutely terrified and started screaming for my mother (although she wasn’t there), at the same time I ripped Abby out of the shopping trolley and ran back to the GP’s rooms. By this time she had started breathing again. Her pediatrician was called and Abbey was rushed to the emergency rooms at the hospital where she had another massive convulsion even as they worked to bring her temperature down.
A lumber puncture was done to check for meningitus. My poor child screamed blue murder and they would not let me near her. Fortunately, she tested clear for meningitus.
As time went on, Abbey began to regress. She stopped clapping and waving her hands in the normal way; she lost the ability to feed herself; she stopped saying the few words
she had learned.
Then, just before her second birthday the strange repetitive hand movements began and which now prevents her from being able to hold anything and from using her hands effectively.
The Pediatric Neurologist told me it was just a bad habit and I needed to break it. I was not happy with this so I found another Pediatric Neurologist, Dr Crutchley, but had to wait 3 months for my first appointment. While I waited still more tests were done on Abbey. I also took her to a pediatrician who said he suspected Angelman syndrome plus autism.
It was also during this time that my mother happened to go to the hairdresser and during a discussion, another client mentioned that her daughter also had the same hand movements and that the child had been diagnosed as having Rett Syndrome.
As soon as my mother told me, I Googled Rett Syndrome. I was shattered! Completely heartbroken. The symptoms matched my daughters behavior to a T. I felt as if she was dying. I cried day in and day out and was constantly being sent home from work.
My wonderful dreams for my daughter vanished and left an empty space. My little ballet dancer would never dance for her mom. My precious little girl would never tell her mommy she loves her. Words I so long to hear, will always be left unsaid.
When I finally saw Dr Crutchley for the first time, I decided not to mention Rett Syndrome. He examined Abbey for about 2 hours, before sitting me down and telling me he believed she had Rett Syndrome.
You should have seen the look on his face when he told me! I thought he was going to cry. I told him that I already knew. I also mentioned that her eye blinking seemed strange to me, which seemed to worry him even more.
Abbey was sent for another EEG which came back showing that she had multi-focal epilepsy. Blood tests were performed to check for Rett Syndrome. It was three long months before the final result was in and Abbey was confirmed as having Rett Syndrome.
My daughter was now three years old. She seemed not to know that I even existed. When I got home from work, she would not even look at me, let alone get excited. Abbey was in her own world where nothing around her existed. She would simply sit and stare and laugh to herself.
I sent Abbey to a play group and all of a sudden she changed. It seems that she needed more stimulation than I was able to give her. Now she can’t wait to see me and I get wonderful hugs and kisses. She cries when I leave the room. Abbey puts up her arms so that I will pick her up and when she is ill, she only wants her mommy.
She has become so aware and different. Almost as if she has been given permission to see the world around her. She notices, watches and understands everything now. Nothing seems to get passed her. She watches the leaves blowing and the birds in the trees. When we go somewhere new she looks around and hops about wanting to explore.
I love her just as she is right now. I don’t want to change her at all.
We have been through so much together and it has all worked to strengthen me. I take Rett Syndrome day by day. I no longer look back to what might have been or ahead to what might still be. I have settled in my heart that this is who Abbey is and how she will be forever.
Before, I could not go into a park and see other children. It hurt too much. Now I can go anywhere with her and feel so proud to have her with me. I love telling people about her and about Rett Syndrome.
Abbey’s problems and Rett Syndrome have woken me up big time and with the strength of God, I now have the courage and strength to deal with it.
Sadly, her father still throws that fact that I could have avoided this, if only I had aborted her when he wanted me to.
This was my choice! I would not change anything if I had to do it again. I am so glad I had Abbey. She is my everything!
Com a colaboração da: Rett Syndrome in South Africa