May
08
23:01
Genetic diseases

Tetra-Sachs syndrome

Syndrome Tetra Amelia

syndrome tetra-Amelia Photo syndrome, Tetra-Amelia - is a hereditary, congenital and very rare disease, which is characterized by the absence of the four limbs.Often, other body parts can also be exposed malformations.This refers to the skull, face, reproductive organs, pelvis, anus.In all other patients are absolutely appropriate and reach their incredible desire to life notable success: develop flexibility paint lying, mouth take toys, eat with a spoon.Due to the flexibility of the back rather quickly move across the floor.

most famous people with the syndrome, Tetra-Amelia - is Nick Vujcic, Hirotada Ototake, Marilee Adamski-Smith, Joanne O'Riordan, Christian Arndt, Prince Randian, Violetta, Mariah Scott, Piotr Radon, Jovan Yumbo Ruiz.

life motto Hirotada Ototake syndrome, Tetra-Sachs says that for a happy life not necessarily to be born physically perfect and, even when disabled, it is possible to enjoy every day of your life.And some people on the contrary, being healthy, living life in a dep

ressed state.An example of people suffering from the syndrome, Tetra-Amelia, shows that the absence of arms and legs allows you to go through life carefree.

Syndrome Tetra Amelia reasons

The disease is characterized by autosomal recessive inheritance and the causes of the syndrome, Tetra-Sachs gene mutation is WNT3.For the development of the disease is responsible recessive mutation in the gene WNT3.This gene acts as a representative of the family of WNT, which is responsible for embryonic development.WNT3 gene is human chromosome 17. The main function of a protein that produces WNT3 gene, is the formation of limbs, as well as other systems of man during embryonic development.Mutational changes in the gene lead to a breach WNT3 production at the cellular level of complete protein.This in turn provokes a change in the formation of limbs and leads to the development of other congenital, serious defects.Doctors attribute this to genetic changes at the genetic level within the family, and point out that the two copies of the gene (inherited from each parent) appear to be defective, leading to the disease.This means that both parents of a patient with an autosomal recessive syndrome are the carriers of the gene mutation.Often parents do not have pathological signs or symptoms of the syndrome.

And in some families the cause of the syndrome, Tetra-Amelia and remains undetected.It is believed that the development of Tetra-Sachs syndrome are responsible not only unknown mutations WNT3, as well as other genes involved in the formation of limbs.

Syndrome Tetra Amelia symptoms

main symptom of the syndrome, Tetra-Amelia - is the absence of the four limbs and related life limitations.The disease is able to cause serious defects in the development of different parts of the body: face, head, skeleton, heart, reproductive organs.Most cases are characterized by the underdevelopment of the lungs, causing shortness of breath.Sometimes children are born stillborn or die after a certain time because of multiple malformations.

Nick Vujcic life

Life Nick Vuychich suffering from the syndrome, Tetra-Amelia, now appears as an inspiring emotional pattern for many millions of people.

Nick Vujcic, as a motivational speaker, teaches people to overcome hopelessness, despair, difficulties, and find the strength to believe in themselves and to become a happy man despite the problems of life, limitations, stress.

Nick Vujcic and his life, from the early days filled with overcoming the difficulties associated with the absence of the four limbs, but this existence is not broke his spirit.His real-life example of a young man showed how to live happily.

Nick Vujcic through perseverance and desire, has managed to master the physical skills that help him live a full life in society: to serve themselves, eat, answer the phone, write a book, get involved in sports.

Nick Vujcic tries and gets out of life that he wants and put unattainable goals was unreal: a family, brings a healthy child;in demand as a writer and speaker, and most importantly, he was able to overcome the depression associated with the syndrome, Tetra-Amelia.

Nick Vujcic, speaking to the audience filled, quite ignorant of feelings and physical problems associated with their condition.As a child, when life was reduced to stay long hours in the horizontal position, Nick Vujcic wished in himself to die.The boy did not see the point of their continued existence in this physical garb, but eventually found the strength and continued to live at the same time build their lives, so that now a role model for healthy people and for people with disabilities.

Thinking about the future Nick Vujcic was aware that it would be deprived of family happiness, love, parenthood, work, recognition and made it impossible to prove otherwise contrary to popular belief that the existence of disability is reduced only to live a meaningless life.

Nick Vujcic - is an example of the strength of spirit and lust for life, despite the diagnosis of the syndrome, Tetra-sentence-Amelia.

Nick Vujcic proved to millions of people, and above all to myself that it all depends on the overwhelming desire of man to be happy.His achievements can be proud of the young man, and people from his example should draw inspiration for their lives.Due to its irrepressible Nick Vujcic reached of what many healthy people may not come for years, with all the possibilities and preconditions.

His life is filled with interesting meetings, travel, participation in business forums.His speeches are heard, interviews striking openness and honesty.Nick Vujcic is a charitable organization "Life Without Limbs", as its president.

Nick Vuychich Life is a unique opportunity for training to overcome obstacles and implement the most ambitious goals and dreams.

Nick Vujcic photo

Nick Vujcic - life without boundaries

Nick Vujcic was able to see their problems the possibility of growth and setting himself big goals achieved desired.His lust for life truly amazing, and the ability to please: he works at a computer, writes books, loves fishing, playing golf and enjoys surfing.However, it all started not so joyful and all that now is Nick Vujcic - this is his personal merit.A boy was born in 1982 in Melbourne.Pastor's Family long departed from the shock, and just four months later, the parents come to terms with the situation, began to raise a child.

Thanks likeness foot instead of the left leg, the boy was able to learn to walk and swim, dashing skateboarding, work and play on the computer.Parents were able to get the child to attend regular schools.The boy was not easy among peers who did not take the words and hurt.Nick Vujcic turn in on themselves, the night crying and hoping that waking up in the morning, he will grow legs and arms.As the years passed, the boy grew up, and a miracle happened, but Nick Vujcic has not ceased to learn, grow, and realized that his mission on earth - to show all the desperate people that the lack of hands and feet is not a sentence, but only obstacle that can be overcome andbegin to live fully.

Nick Vujcic realized that physically can not be undone themselves and change their attitude to life can, and its specific example is shown to all mankind, to accept yourself for who is.Yes, he can not put his hand on the shoulder of the other party, but it can truly communicate.Sincerity - this is a rare quality, which is lacking at present people.People do not know how to enjoy the small and learned to be upset over nothing.When failures person seems unrealistic that the rise because there are no forces, but has fallen necessarily rise, because it has the hands and feet, but Nick Vujcic this deprived.However, his life without limits, with the hope and failure were the springboard to success.

Nick Vujcic want to convey to people that failure is not the end.Man can not control the events happening around them, but it can change the attitude towards them.And choosing the right attitude towards life, people will rise above any issues.

Nick Vujcic likes to surprise people with his behavior: openness, activity, extreme way of life and the belief that life, even these people can be without limits.

Syndrome Tetra Amelia treatment

Syndrome Treatment Tetra Amelia aimed at the removal of painful symptoms underdeveloped organs.Often, patients are in the doldrums, so it is important to connect the supportive psychotherapy, including pharmacotherapy.Displaying antidepressant treatment, has a stimulating effect and removes lethargy, depression, apathy.Help therapist allows to overestimate the values ​​of life, and to help find a new meaning of life.

to improve the lives of suffering from the syndrome, Tetra-Amelia create a bionic arm that controls the transmission of signals from the chest muscles.

service physician recruitment is relevant only for the citizens of the Russian Federation

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