A child with an old man's face. Aging children, or the curse of progeria
Babies with progeria look normal for 6 to 12 months after birth. After that, they develop symptoms characteristic of old age: wrinkled skin, baldness, brittle bones and atherosclerosis, which, as a rule, leads to their death between the ages of 5 and 13 years ...
For the first time, the syndrome of premature aging was discussed 100 years ago. And not surprisingly, such cases occur once in 4-8 million babies. Progeria (from the Greek pro - earlier, gerontos - old man) is an extremely rare genetic disease that accelerates the aging process by about 8-10 times. Simply put, a child ages 10-15 years in one year. An eight-year-old looks 80 years old - with dry wrinkled skin, a bald head ... These children usually die at the age of 13-14 after several heart attacks and strokes against the background of progressive atherosclerosis, cataracts, glaucoma, complete loss of teeth, etc. And only a few live to 20 years or longer.
Now only 42 cases of people with progeria are known in the world ... Of these, 14 people live in the United States, 5 in Russia, the rest in Europe ... 
Among the features of such patients are dwarf growth, low weight (usually not exceeding 15-20 kg), excessive thin skin, poor joint mobility, underdeveloped chin, small face in comparison with the size of the head, which gives the person as if a bird's features. Due to the loss of subcutaneous fat, all vessels are visible. The voice is usually high. Mental development corresponds to age. And all these sick children are strikingly similar to each other. 
12 year old Seth Cook looks like an 80 year old man. He has no hair, but he has a full range of diseases that affect older people. Therefore, every day the boy takes aspirin and other drugs that thin the blood. With a height of 3 feet (a little over a meter), Seth weighs 25 pounds (11.3 kg). 
Oury Barnett was born on April 16, 1996. Already at the age of five, poor Ouri began to have coronary heart disease. Attacks followed one after another. The kid often ended up in the hospital, but he had to be treated with the means that are usually prescribed for older people. 
Ouri looked like a stroke survivor: his legs were weak and he began to stumble like a decrepit old man. His eyes faded upper lip did not move, saliva flowed, speech became illegible. 
Ouri's mother did a lot to convey to people her experience and her observations of the unfortunate child. From the age of three, the baby was taken to the shooting of television programs and scientific conferences. The only condition that the mother set for sensational journalists was that they should not write that the baby was dying of progeria. 
The most famous case of progeria described in the Russian press is the story of Alvydas Gudelauskas, who suddenly began to age at the age of 20. Literally in a matter of months, Alvidas turned into a 60-year-old man before our eyes. And only after plastic surgery did he begin to look like a mature man. In the photo on the left - this is how he looked before the operation, on the right - after. Now Alvydas is only 32 years old. 
Until recently, doctors could not determine the cause of the disease. And only recently, American researchers discovered that only a single mutation is the cause of "childish old age" or Hutchinson-Gilford progeria. 
According to the director of the National Institute for Genome Research Francis Collins (Francis Collins), who led the study, this disease is not hereditary. A point mutation - when only one nucleotide is changed in a DNA molecule - occurs anew in each patient. People suffering from progeria die mainly from precisely those ailments that are characteristic of old age. A mutated form of the LMNA gene has now been found to cause progeria. 
Progeria(Greek progērōs prematurely aged) — pathological condition characterized by a complex of skin changes, internal organs caused by premature aging. The main forms are children's progeria (Hutchinson-Gilford syndrome) and adult progeria (Werner's syndrome).
Childhood progeria is very rare. Etiology and pathogenesis are not known. In most cases, it occurs sporadically, in several families it has been registered with siblings, incl. from consanguineous marriages, which indicates the possibility of an autosomal recessive type of inheritance.
In the skin cells of patients, violations of DNA repair and fibroblast cloning were found, as well as atrophic changes in the epidermis and dermis, and the disappearance of subcutaneous tissue. Although children's P. may be congenital, in most patients, clinical signs usually appear in the 2nd-3rd year of life.
The growth of the child sharply slows down, atrophic changes in the dermis, subcutaneous tissue, especially on the face and limbs, are noted. The skin becomes thinner, becomes dry, wrinkled, there may be scleroderma-like lesions on the body, areas of hyperpigmentation. Veins show through the thinned skin. Appearance of the patient: big head, frontal tubercles protrude above a small pointed ("bird") face with a beak-shaped nose, the lower jaw is underdeveloped.
Muscle atrophy, dystrophic processes in teeth, hair and nails are also observed; there are changes in the osteoarticular apparatus, myocardium, hypoplasia of the genital organs, impaired fat metabolism, clouding of the lens, atherosclerosis.
Lena ages five years in a year
Yesterday, in a Moscow clinic, doctors performed the first operation on a patient suffering from premature aging syndrome.
At first, my earlobes began to sag in a strange way. Then I noticed amazingly deep wrinkles between the eyebrows, - says the 23-year-old girl.
At the first glance at Lena Melnikova, you even begin to doubt. But how is this a cunning bored 40 - 50-year-old lady who desired wide fame and plastic surgery from the best surgeons ?! Unfortunately, this has already happened.
This is what she looks like now at 23.
Asking Lena about her personal life doesn’t even turn her tongue ... Although the girl smiles courageously:
Everything is fine.
Lena has almost no chance. Diagnosis: "premature aging syndrome" ("progeria"). Medical luminaries around the world claim that people live on average only 13 years from the moment of the disease. And no one knows how to restore youth or at least calm old age ...
Terrible symptoms began to appear in Lena five years ago. First, the face aged, and then the skin of the whole body. Elena then studied at the 1st year of the Mari Polytechnic Institute.
You know, how insulting it was... Guys come up to meet my girlfriend and treat me emphatically politely, they take me for my mother. Almost asked permission to meet with the "daughter".
After graduating from the Mari Polytechnic University, the girl decided on plastic surgery. But the banal circular tightening of the skin of the face did not help. Only left scars on the neck and temples. The mysterious process of aging of the organism continued. Local doctors could advise Elena only one thing - to take vitamins and be constantly observed.
The girl - by the way, a certified engineer-architect - did not despair and went to Moscow. Melnikova became interested in an expensive metropolitan clinic plastic surgery Beauty Plaza. Its experts decided to help the provincial woman in trouble. And completely free.
We decided to try. If it is generally recognized that nothing can be done, then you should at least try, - said the leading surgeon of the clinic, Doctor of Medical Sciences Professor Alexander TEPLYASHIN, on the eve of the operation. - Although it is unsafe for Elena to operate, because the disease could also affect the state of internal organs.
She is so young! She needs to live normally, communicate with young people. First, we will make a face, and then we will begin to fight the disease at the genetic level, - Professor Teplyashin is determined.
“I really believe the professor,” Elena Melnikova persistently convinces us. It looks like she's also convincing herself.
Elena arrived at the clinic yesterday morning. She was being prepared for surgery. Allocated a separate room, where she waited. So far, Professor Teplyashin is also preparing for his very difficult work. A quarter of an hour before the operation, Elena is calm.
I'm not afraid of anything, - she repeats and repeats everything. And in the end it still sobs. Some time ago, the girl was seriously thinking about ending her life.
The time has come for the operation. Lena gets up and, looking straight ahead, walks with a deliberately firm gait into the bowels of the clinic. Suddenly, she pauses for a minute and turns clearly more to herself than to others: “I was very afraid of this first operation, and now I have a second one. And I have no choice. My last hope". - And resolutely steps to the anesthesiologist.
The doctors of the clinic allowed the photographer into the holy of holies - the operating room of aesthetic surgery. The first stage of the operation is the breast. The doctor cuts the skin on the chest and prepares a special bio-implant. The composition is one of the secrets of the clinic. The main thing - no alien silicone. Like dough, Professor Teplyashin vigorously kneads the implant so that the pliable material almost seeps between his fingers. And finally puts in the body. The second and main stage is the face. And the first difficulty here is to eliminate the scars and imperfections of the previous plastic surgery. The sight is not for the faint of heart. But everything seems to be going well...
After Lena Melnikova undergoes a special rehabilitation course at the clinic, geneticists and cell biologists will develop an individual biotechnological treatment program especially for her, which should end with an injection of stem cells. These cells are supposed to expel old age from a young body...
Once upon a time, a beautiful and smart 18-year-old student Melnikova had many fans. But when the disease began to develop, there was only one who really loves. The girl does not name him, but she is sure that he is very worried and is waiting for her in Yoshkar-Ola. In the meantime, in Moscow, the unemployed engineer-architect Melnikova lives with her brother.
For the first time, the syndrome of premature aging was discussed 100 years ago. And not surprisingly, such cases occur once in 4-8 million babies. Progeria (from the Greek pro - earlier, gerontos - old man) is an extremely rare genetic disease that accelerates the aging process by about 8-10 times.
Simply put, a child ages 10-15 years in one year. An eight-year-old looks 80 years old - with dry, wrinkled skin, a bald head ... These children usually die at the age of 13-14 after several heart attacks and strokes against the background of progressive atherosclerosis, cataracts, glaucoma, complete loss of teeth, etc. And only a few live to 20 years or longer.
Now only 42 cases of people with progeria are known in the world ... Of these, 14 people live in the United States, 5 in Russia, the rest in Europe ...
Among the features of such patients are dwarf growth, low weight (usually not exceeding 15-20 kg), excessively thin skin, poor joint mobility, an underdeveloped chin, a small face in comparison with the size of the head, which gives the person as if bird features. Due to the loss of subcutaneous fat, all vessels are visible. The voice is usually high. Mental development corresponds to age. And all these sick children are strikingly similar to each other.
12 year old Seth Cook looks like an 80 year old man. He has no hair, but he has a full range of diseases that affect older people. Therefore, every day the boy takes aspirin and other drugs that thin the blood. With a height of 3 feet (a little over a meter), Seth weighs 25 pounds (11.3 kg).
Oury Barnett was born on April 16, 1996. Already at the age of five, poor Ouri began to have coronary heart disease. Attacks followed one after another. The kid often ended up in the hospital, but he had to be treated with the means that are usually prescribed for older people.
Ouri looked like a stroke survivor: his legs were weak and he began to stumble like a decrepit old man. His eyes faded, his upper lip did not move, saliva flowed, his speech became unintelligible.
Ouri's mother did a lot to convey to people her experience and her observations of the unfortunate child. From the age of three, the baby was taken to the shooting of television programs and scientific conferences. The only condition that the mother set for sensational journalists was that they should not write that the baby was dying of progeria.
The most famous case of progeria described in the Russian press is the story of Alvydas Gudelauskas, who suddenly began to age at the age of 20. Literally in a matter of months, Alvidas turned into a 60-year-old man before our eyes. And only after plastic surgery did he begin to look like a mature man. In the photo on the left - this is how he looked before the operation, on the right - after. Now Alvydas is only 32 years old.
Until recently, doctors could not determine the cause of the disease. And only recently, American researchers discovered that only a single mutation is the cause of "childish old age" or Hutchinson-Gilford progeria.
According to the director of the National Institute for Genome Research Francis Collins (Francis Collins), who led the study, this disease is not hereditary. A point mutation - when only one nucleotide is changed in a DNA molecule - occurs anew in each patient. People suffering from progeria die mainly from precisely those ailments that are characteristic of old age. A mutated form of the LMNA gene has now been found to cause progeria.
Seven year old man and his family
Khan children. Rehena, Ali Hussein and Ikramul suffer from a rare disease. He is only seven years old, and he is already going bald. This is the most noticeable of the many symptoms of the disease that Ali Hussein Khan suffers from. He is still a boy, but he is already in middle age. This is progeria, an extremely rare disease that causes Ali's body to age prematurely.
Neither he nor his sister and brother - 19-year-old Rehena and 17-year-old Ikramul - have practically no chance of living to 25.
This disease greatly accelerates the development of children. However, it also causes other problems: in their mouth, for example, a second row of teeth appears, and the skin becomes very pale, almost transparent.
Such children get sick with what ordinary people suffer in old age. Last year, their sister Ravena, who also had progreria, died of pneumonia. She was 16.
As soon as Ali Hussein begins to speak, it becomes clear that he is seized with childlike enthusiasm and preoccupied with hopes that are not characteristic of an adult.
“I would like to be an actor, drive cars and planes, be an action hero,” he says. “And then I would like to become a doctor, because doctors check me all the time, and I would like to check myself, and therefore I wanted someday I would like to be a doctor."
Hana is unique in this sense: this is the only case known to science when more than one family member suffers from progreria. And thanks to this family, scientists were able to make a real breakthrough in understanding the nature of the disease.
Scientists led by pediatrician Chandan Chattopadhyaya observed the Khans for two years and concluded that the disease is hereditary and recessive. This means that her gene can be in both parents. In this case, Hana's husband and wife are cousins to each other. Neither of them has progreria, nor do their other two children, 14-year-old Sangita and two-year-old Gulavsa.
IN last years the family is looked after by a charity from Calcutta. The head of the Bisul Khan family says that life has treated him and his wife Rajia cruelly. Both of them are natives of one of the villages in the Indian state of Bihar. The locals called their children aliens, and as a result they had to grow up in complete isolation.
“When we lived there, in Bihar, every evening we sat in a room, unable to sleep, because one of the children was tormented by something, then the other,” recalls Khan. “And we thought, me and my wife, we sat down side by side and thought: how can we continue to live? We even thought about putting an end to all this in one fell swoop ... "
“But now the children are living,” the father says. “They are energetic, they are happy, they live a normal life, as far as possible, of course.”
For the past two years, Khanami has been looked after by Sekhar Chattopadhyay, head of the S-bi Devi Charitable House in Calcutta. Now they live in this city, although their exact address is kept secret.
The charitable organization helped my father find a job as a security guard, but his salary is low, so they are also helped financially. But no less important than money are those normal human contacts that children have acquired with the help of a charitable organization.
"We support them and we've become friends," says Chattopadhyay, tossing Ali Hussein on his lap.
Thanks to his support, the Khans say they now live much more full life than before. They smile when they talk about their interests and hobbies.
Rehena says she loves Indian films, especially passionate love songs. When I ask if she sings herself, she says that she is shy, but it is still clear that she wants to demonstrate her abilities, and, having received approval, she agrees to try.
"I love loving you and when I don't see you, I can't wait until we meet again," she sings in Hindi.
According to various sources
In Bangladesh, a baby was born with a rare genetic disease - progeria. The newborn looks like he is already 80 years old, which is why the journalists have already dubbed him Benjamin Button (by analogy with the story told in the film of the same name)
Progeria is one of the rarest genetic defects. With progeria, changes in the skin and internal organs occur, which are caused by premature aging of the body. On this moment No more than 80 cases of progeria have been recorded in the world.
A newborn boy from Bangladesh has deep wrinkles, sunken eyes, a shriveled body and Thick hair on the back. At the same time, doctors say that at the moment nothing threatens the health of the mother and child.
The boy's parents, poor farmers from the village of Bhulbaria, are happy about the birth of the child. “The father will be happy with his second child, as the boy looks like him,” the mother of the baby told India Times. The child's father, Biswajit Patra, confirms this: “We do not experience discomfort due to the physical characteristics of the baby.
The main thing is that he is healthy.” Unfortunately, the average life expectancy for childhood progeria is only 13 years.
And this is China
Qi Yuanhai (Xia Yuanhai,) was born completely normal. That is, with a human face. However, in adolescence he was struck by hyperplasia, a disease that causes excessive growth of certain tissues.
Yuanhai's head bone has grown. As a result, the face was extended in width, changed proportions - hypertrophied, in medical terms. And Yuanhai himself became like an alien. At least they - the aliens - are portrayed something like this. Down to the complexion.
"Alien" lives in the village of Laotu in southwestern China (Laotu village in Chongqing, southwestern China). Regarding his appearance, he had not previously consulted a doctor, he had not been treated for hyperplasia. But now, having lived to the age of 53, he was worried and wanted to become more like earthlings.
Together with his older brother, he collects money for treatment - as reported by the British newspaper The Sun. His dream - figuratively speaking, to return to Earth, having undergone plastic surgery.
According to the network
What is progeria, what are its signs and effects? How is the disease diagnosed and what treatment is available today?
Hutchinson-Gilford Progeria Syndrome (HGS) is a rare, fatal genetic disorder characterized by sudden, accelerated aging in children, affecting one in 8 million children worldwide. The name of the syndrome comes from the Greek word and means "premature aging". Although there are various forms of Progeria, the classic type of Hutchinson-Gilford Progeria Syndrome is named after the physicians who first described the disease, in 1886 Dr. Jonathan Hutchinson and in 1897 Dr. Hastings Guilford.
It is now known that SHGP is caused by a mutation in the LMNA (Lamin) gene. The LMNA gene produces the protein lamin, which holds the cell nucleus. Researchers believe that the defective lamin protein makes cell nuclei unstable. And it is this instability that triggers the process of premature aging.
Children with this syndrome appear healthy at birth, the first physical signs of the disease may appear at the age of one and a half to two years. This cessation of growth, weight and hair loss, protruding veins, wrinkled skin - all this is accompanied by complications more characteristic of older people - joint stiffness, generalized atherosclerosis, osteoporosis, cardiovascular disease, stroke. In children with this disease, remarkably similar appearance despite different ethnicity. Most often, children with progeria die of (heart disease) at an average age of thirteen (range from about 8 to 21 years).
There is also "adult" progeria (Werner's syndrome), which begins in adolescence (15-20 years). The life expectancy of patients is reduced to 40-50 years. The most common causes of death are myocardial infarction, stroke and malignant tumors. Scientists cannot determine the exact cause of the development of the disease.
Who is at risk?
Although progeria is a genetic disease, in the classical understanding of the Hutchinson-Gilford syndrome, but not hereditary, i.e. neither parent is either a carrier or affected. Each case is thought to be a sporadic (random) mutation that occurs either in the egg or sperm prior to conception.
The disease affects all races and both sexes equally. If a couple of parents have one child with SHGP, the chance that a second child will be born with the same condition is 1 in 4 to 8 million. There are other progeric syndromes that can be passed down from generation to generation, but not classic SHPS.
How is progeria diagnosed?
Now that this gene mutation has been identified, the Progeria Research Foundation has developed diagnostic testing programs. It is now possible to confirm specific genetic changes or mutations in a gene that lead to SHGP. After an initial clinical assessment (appearance of the child and medical records), a blood sample is taken from the child for testing. The definitive scientific method for diagnosing children is currently being developed. This will result in more accurate and more early diagnosis, which will help ensure that children with this mutation are properly cared for.
What treatments are available for children with progeria?
A common, at first glance, form of psychological state - phobic anxiety, causes cell damage and leads to premature aging.
To date, only a few ways are available to optimize the quality of life of children with Progeria. Treatment includes ongoing care, cardiac care, special nutrition, and physical therapy.
Over the past few years, encouraging research data have been published that describe the potential drug treatment for children with progeria. Scientists believe that farnesyl transferase inhibitors (FTIs), originally developed to treat cancer, may reverse the structural abnormalities that cause progeria in children.
Twenty-six children took part in trials of the drug - this is a third of all known cases of progeria. Children who took the drug showed a 50% increase in annual weight gain. The children also improved bone density to normal levels, and a 35% reduction in arterial stiffness, which is associated with a high risk of heart attack. The researchers emphasize that thanks to the new development, damage to blood vessels is not only reduced, but also partially restored over a period.
Everyone knows the American film " Misterious story Benjamin Button" main character who (played by actor Brad Pitt) was mysteriously born an old man and throughout his life, instead of growing old, younger. At the center of the drama was his relationship with a woman who, like all people, was getting old. The film, in which the strange feature of Benjamin Button was not explained, ended with the hero becoming a baby and lying in the arms of his beloved, who was already quite old.
But few people know that Benjamin Button's illness is real. REN TV will tell the story of some of the children who suffer from this affliction.
Brother and sister who want a "life without pain"
So, in India, there is a brother and sister who have a rare skin disease that occurs in one case in a million. The boy Keshava and his sister Anjali have a disease called progeria. Because of it, babies have swollen faces from the moment they are born, and their skin is wrinkled and saggy. At school, of course, they give them offensive nicknames and laugh at them.
Parents hope that their son and daughter will be able to help. However, doctors say that hope can only be abroad. And the family in which the kids grow up is poor.
"My parents say that one day everything will be fine, but this disease oppresses me from the inside. And I just want a long life without pain," Anjali says.
When I was born, I looked like an alien
Another boy suffering from progeria lives in Bangladesh. This is Bayezid Hossein, and in his early years he looks like an 80 year old man. According to her mother, who gave birth to him at the age of 14 from her cousin, her child is smart.
"He looked like an alien (when he was born. - Approx. ed.), And it was heartbreaking," - told his mother Tripiti.
Used her aging to buy alcohol
According to the media, children with progeria die early - from a heart attack. They usually die at the age of 13. But Chally Muguira from the USA is already 30 years old. She was diagnosed with a terrible diagnosis at the age of 16, and the girl even found advantages in it - she used her aging to buy alcohol.
Chally was teased at school, but she even managed to get married. They met their blind husband Tony on a dating site and soon realized that they could not live without each other.
