For Parents of Children with Rett Syndrome

For Parents of Children with Rett Syndrome

How Rett Syndrome Was Discovered

In 1954, a Viennese pediatrician, Dr. Rett, observed two girls doing constant hand kneading exercises. 

His diagnosis and development confirmed that they had the same disease, and he also investigated and filmed six other girls.

 He searched all over Europe for patients with the same symptoms and published them in a German medical journal in 1966, 2.3. 

In 1982, Dr. Bengt Hagberg discovered the same symptoms in Rett girls and published a paper in 1982. 

It was this report that cleared up the hazy outlines of Rett syndrome and began to tell the details of the disease.

Mr. Hagberg paid tribute to the disease’s pioneer, Dr. Rett. named the group. 

In 1999 saw a big change. Lucy Amir, a fellow at Baylor College of Medicine in Houston, discovered the mutated gene that causes Rett syndrome and named it MECP2.

 It was credited to Dr. Huda Y. Zoghbi for finding the chromosome at position Xq28 on the X chromosome. Credit to the Baler team. This discovery demonstrates that the symptoms in Rett’s patients are caused by an X-chromosome abnormality.

Abstract of Dr. Rhett’s lecture 

(Abstract of Dr. Rett’s lecture At the Rett Syndrome Symposium on November 4, 1990 )

For Parents of Children with Rett Syndrome 

This Symposium is a gathering of educators, therapists, parents and others interested in Rett syndrome.  I am very happy to meet you all here. 

Today, We had a very meaningful meeting for research on this Rett syndrome. Parents of children with Rett Syndrome are very skeptical about the disease. I think he is there. The disease presents many symptoms around the age of 6 to 8 months.

Before that, it grows normally. Pregnancy and childbirth are both normal. It’s probably about her who felt so happy. However, there are some differences in motor development However, eventually it became impossible to walk, unable to sit, 

There are actions such as holding hands. the most important thing in life for parents I know it’s a difficult time. The reason is that my child, who should have been growing normally, started to lag behind, and the future of the child became unfavorable. 

Because it will make you anxious. and will send you to the doctor. 

About The development compared to other children She asks to the doctor and what happened to her child .

This disease from the doctor I think it’s very painful for her when she is informed. I’ve had this disease for 40 years I am concerned, but it is very painful to explain to my parents. 

There are many problems with this disease. Children with this disease are so wonderful It’s cool and very cute. Therefore, it is easy to love. other Disabled children are recognizable by their appearance, but children with Rett Syndrome From the looks of it, she looks like a normal child, and she’s cute.

 Cuteness like this with other diseases I have never seen children with faces. According to my observations, many countries Among the children of Mr. I’ve never seen eyes that show emotion. children can talk not.

 But what does the child’s eyes mean, how do they feel, what do they see? I will tell you what I saw. The optical workings of the eye and the connections between systems for seeing things everything is fine too. You can be sure that children can see and hear. Hmm. 

However, this disease cannot respond to stimuli from the outside world other than what the eye sees. They won’t come. The problem is that they obviously don’t react as quickly as normal children. 

The other is the reaction of the child’s eyes, looking at the other person’s eyes, chasing the light, chasing people, etc. 

You will notice. I can’t help but be convinced that you have more beautiful eyes than I thought. you won’t get it See who’s in this room with her, with her brother by her side. I can do it, but I can’t speak. The same goes for listening. listen You can do that, and you can definitely hear different sounds.

 Especially about music they like, Rett Patients remember the sound and the melody.

I went South Africa, South America, Japan a few years ago, America, Norwegian and I have examined children in Germany, Sweden and other countries and have been able to I was so impressed with how her work was done. 

Rett syndrome is relatively non-specific compared to other disorders. I always feel that I am well taken care of. At today’s meeting, a lot of researches and researches to clarify the cause were announced. cause investigation Tomorrow will still take some time, but I can say that we are getting closer.  

Finding it is not easy, but I have spent 28 years trying to figure out the cause. We are doing with today’s research, a little more time will tell us why and why. I’m sure you can figure it out. 

All I can say now is that this disease has been passed down through families and parents. There is no genetic component of .

And most importantly, healthy brothers and sisters is the problem. The reason is that the family line is interrupted depending on whether this illness is caused by her family or not. 

Because it does. I don’t think it’s possible for her that this disease will happen again in the next child. 

 I affirm. It is a completely spontaneous disease. There were two cases in one family. There is no such example. This is very important. A family with a child with Rett syndrome I always ask, “Will the next child be okay?” I always say, “Boy She may be a girl, but the next child will be a very wonderful child I can promise you that.

” Kathy Hunter, President of the International Rett Syndrome Association, made the following important statement: Well she is. Care today, Cure tomorrow; We have to wait for tomorrow’s research. But today, I am lovingly caring for my children. She says to work hard. It’s my favorite word. 

Although there is no cure, there are many treatments available for children with Rett syndrome. And he said that good results can only be obtained with the cooperation of family members.

 First let me say she wants to. In addition, we also offer a variety of services such as physiotherapy, music therapy, and occupational therapy. He has many excellent experts in the field. And elicit the child’s reaction well is dependent on the good qualities of these therapists. in training , communication between the child and the trainee is of utmost importance. 

The problem isn’t how you train , how to make contact with the child. If you can grasp the child’s feelings, you can also achieve the trainer’s intention. I have learned this from many examples. 

This method requires no special training You can do it. You can choose the training method according to your purpose from among various training methods. I need it. What are the words that underlie everything we’ve talked about so far? 

That’s love. If you love your child, you will work hard for your child. It will stretch, and any therapy will be effective. Another thing I would like to add about training is the issue of gait. Self-walking for children with Rett syndrome Being able to move with you is extremely important. and if your child If she can walk, she must make every effort not to lose that ability. Hmm. 

Even to prevent scoliosis, I think walking is important. Scoliosis prevents this I have to do everything in my power to save her. About seizures, my research shows that about 40% of children with Rett syndrome have seizures. vinegar. If your child has a seizure, don’t be too frightened. 

Although, Seizures are a very difficult problem. Surprise when your child actually has a seizure increase. There are various types of seizures. However, with proper treatment and correct medication, I’m sure the seizures will stop.