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At the beginning there is a mutation in the MECP2 gene. It is on the X chromosome. Then a girl is born and it seems that everything will be fine. But it is not. About a year later, the second birth takes place. The Silent Angel is born.
Silent Angels
Ever since Julia Roberts became fascinated by them and appeared in a documentary about the families of girls with Rett syndrome, all over the world, this is the way, from the title of the film, about the Rettki. Although neither girls nor little girls, nor angels, have their own character! For example, Asia, the oldest girl in Poland, although she is already a 39-year-old woman, with Rett Syndrome, on her name day from the morning she demanded a gift from her mother and did not rest until she collected a bouquet of flowers.
– Which, moreover, immediately began to hand me over as if it was my holiday, laughs Małgorzata Szczepańska, Joasia’s mother and a member of the Polish Association for Aid to People with Rett Syndrome.
On the other hand, Agnieszka, who is silent only in the literal sense of the word, because she communicates with the environment through alternative communication, is furious with her imperfect speech communicator. This device has several fields with buttons under which you can record any words or other sounds.
– This Aga has nine fields and it would be quite OK if the buttons were not concave – says Agnieszka’s mother, Dorota Kosno, a member of the Polish Association for Aid to Persons with Rett Syndrome and a special educator working at the Psychological and Pedagogical Clinic. – But they are, Agnieszka misses them often and therefore often gets very nervous. First things first…
Good bad starts
– Rett syndrome is not a disease – says prof. dr hab. Alina T. Midro, Head of the Department of Clinical Genetics at the Medical University of Bialystok and the content supervisor of the National Association for Helping People with Rett Syndrome – is a genetically determined neurodevelopmental disease, which consists of a number of comorbid symptoms from various systems. It affects children of both sexes, but boys who have only one X chromosome in each cell usually die shortly after birth. Girls have two X chromosomes. In female embryos, the phenomenon of lionization occurs (named after the discoverer, Dr. Mary Lyon). It consists in the fact that at the initial stage of the embryo’s development one of the X chromosomes is “turned off” in every living cell. Sometimes the one coming from the father, sometimes from the mother, is withdrawn from use; one time with a mutation in the MECP2 gene, another time without a mutation. That’s why girls with Rett Syndrome are born and live while boys are without a chance.
Rett syndrome is a cruel disease that after the baby is born, everything seems to be fine, because the first visible symptoms appear between 6 and 18 months of age. Then the normally developing and beginning to speak, busy girl becomes quieter, more lethargic, she is not interested in toys, loses contact with the surroundings.
– Parents often use the term “flaccid”. The girls are getting flabby, and so was Asia – recalls Małgorzata Szczepańska.
The first symptoms often direct the diagnosis towards autism, and indeed, as Professor Dr. hab. Alina T. Midro, Rett Syndrome is an autism spectrum disorder, but not autism.
There are also unjustified cries, screams and night awakenings. This is the first phase of the disease development. The second stage is regression. The girl loses the previously acquired skills, stops talking, does not control her hands, which start to make stereotypical movements. Professor Alina T. Midro says:
– These stereotypical movements should be an alarm bell for doctors diagnosing a girl and one of the most evident diagnostic criteria. The movements in question are gestures resembling washing hands, wringing, washing, patting, clapping, touching the face and head. There may be seizures or seizures, apnea or hyperventilation.
The third stage is a moment of breathing, sometimes shorter, sometimes longer, because many girls stay there for many years. It is true that the body is subjected to further tests, but very often they let go of the autistic features and the Silent Angel can be taught new ways of communication. In the fourth phase, the body’s motor skills deteriorate further, but the stereotypes of the hands will calm down and the episodes of epileptic attacks will be less frequent.
Also read: The future of genetic research
The key to development
Other problems that Rettki struggle with are osteoporosis, scoliosis, apraxia and dyspraxia (the girl’s body is unable to follow the commands given by the brain or the reaction takes a long time), cardiac problems, spasticity (high muscle tension), bruxism (grinding of the teeth) ), weakness and large underweight – due to frequent constipation, girls require a special diet. Rettek’s intellectual development is a separate issue.
– Even among specialists there is still a belief that if a child does not speak and does not use his hands, he probably does not understand anything – says Dorota Kosno, Agnieszka’s mother, who is a special educator herself. – Intelligence tests are constructed in such a way that our girls have no chance in them, because the questions have to be answered: orally, in writing or by drawing. Hence the straightforward path to the label of “Severe Handicap”. And girls have great opportunities.
– You have to work, teach, stimulate so that what works well does not stop working – persuades Professor Midro. – Girls with Rett leave a great deal of scope for behaviorists, therapists and rehabilitators.
Dorota Kosno adds: – We already know a six-year-old girl with Rett Syndrome, who is within the intellectual norm for her age. It was possible to test her IQ because she uses an alternative method of communication. This is the key to success – communication.
Yes or no?
At the beginning, you can teach a girl to “say” “YES” and “NO”. Speaking, i.e. showing the selected answer. After all, everyone likes to decide if they prefer apple or orange juice, not to mention the fact that you can find out what hurts or what an angelic soul needs to be happy. There are many possibilities, for beginners, the so-called a meaningful look, then you will need two cards with words or symbols. You can prepare them yourself. Some girls will show the selected card with their eyes, others with their fingers. Finally, there are also communicators. Any information is recorded on it, which Rettka recreates after pressing a button with a finger. Some even have 36 different fields. The success of this method depends on the girl’s dexterity and, as mentioned at the beginning, on the shape of the buttons. The recordings can be changed freely, depending on the situation and age of the girl. (Maybe in adolescence, even a button will be useful, under which a demonstration slam of the door of your room will be recorded). Of course, electronic gadgets can be replaced with analog communication books containing any number of pictures.
– It’s important to remember to give the girl time. Rettki have a disturbed movement planning before they process what they are supposed to do and plan the entire maneuver, we already often doubt that anything is going to happen and we change the command or the subject. It ruins all their efforts and is simply frustrating in the world. And maybe it also discourages further attempts – warns Dorota Kosno, promoter of alternative communication. – And without communication, a child who is speechless and incapacitated will not develop according to its potential. It’s a hard road, but you have to find a sea of faith in the child himself and impress upon yourself one basic thing: these girls have a huge problem with self-expression, but there is potential in them. They know and understand more than they can show.
Silent mice
— The MECP2 gene responsible for Rett syndrome contains information about a protein that is a transcription factor, or commander. That is, it indicates which genes are to be transcribed (rewritten), which in practice means telling them whether to start or stop working. Including Thanks to this, the child’s development proceeds correctly, because at every stage the appropriate genes are involved in it – explains the geneticist, professor dr hab. Alina T. Midro. – When this gene contains a mutation, as in girls with Rett Syndrome, the mechanism is disrupted and as a result, the body, especially the girls’ brains, does not develop properly. Some parts are getting smaller, which is also expressed in microcephaly, but most importantly, they are not damaged, but inhibited! This is a huge difference, and above all, an extremely optimistic therapeutic perspective.
Dr. Adrian Bird, a professor at the University of Edinburgh, conducted research on mice, in which he “turned off” the correct MECP2 gene, and activated the gene with the mutation. The aim of the experiment was to see if the mice that were additionally switched on with the correct gene would notice the difference, that is, whether the havoc caused by its absence could be undone and repaired. And it turned out that yes – the “damage” is reversible! Even Dr. Bird himself did not expect this! He even said that his team made this attempt in anticipation of disappointment, while the disappointment turned into a shout of “eureka!”. It means that if mice have succeeded, humans will be successful in some time. What prof. Midro: there is no damage in the brain, only a blockage. And trembling and clapping their paws mice turned into rodents running around the aquarium curiously sniffing with paws free from stereotypes.
Ripple and fall
However, as long as research in laboratories continues, prof. Midro explains what can be done right now:
– The mutation of the MECP2 gene is such that depending on where in the gene it is located, the degree of developmental disturbance may be different. That is why there are girls who walk, some who talk and some who are in a very bad condition. Knowing the exact location of the mutation, we can now predict and prepare for the direction of the Rett Syndrome symptom expansion. We know if it will hit the legs and if the loss of walking ability is reversible or if it will attack the digestive system. This is what therapy can be based on. In addition, treatment today is looking for weaknesses in the MECP2 protein, pinpointing the sites that the MECP2 Commander missed, and enhancing them.
So it seems, and the professor confirms it, that the future looks optimistic. And as long as time and science do not bring final solutions, it is worth gathering all your strength, although it is not easy, and working with the girls, educating them, providing entertainment and fun.
– Although this is probably the most difficult thing that parents of children with such limitations as Rettki struggle with. Years of ups and downs, faith and self-doubt, remorse and a spurt to act. Working with such a child is a daily toil, painstaking grinding of everything, sometimes for years. You experience a million doubts: maybe it makes no sense, maybe she will never understand it, she will never understand … The most important thing is to give her a credit of trust and be patient, because she will be rewarded – says Dorota Kosno.
250 girls are registered in the National Association for Aid to People with Rett Syndrome. Professor Alina T. Midro estimates that there should be 2 of them. Where are the other Silent Angels? Probably incorrectly diagnosed or unsuccessfully dragged to the doctors, waiting somewhere for encouragement to spread their wings. And there is something to develop. Aga, Dorota’s daughter, after returning from a rickshaw ride (she has her mother as the driver), teaches her golden retriever Lufka the command “sit down” issued with an optical signal, i.e. with a finger gesture. When Aga manages to control her body and pulls out her index finger, Lufka sits down. Come on, even dogs listen to Silent Angels!
more information about Rett Syndrome:
http://akson.org/x.pro/ModMain/DisplayHomePage/
data of the National Association for Aid to People with Rett Syndrome:
http://rettsyndrome.pl/index.php?option=com_content&view=article&id=22&Itemid=12