“It’s not easy. My life is very limited. I haven’t worked in years. I’m always preoccupied with hospital visits and other things that take me all day,” she said. told Ynet.
“We have been through many difficult times. My eldest son is still suffering from recurrent pneumonia. I’m also weaker, but I’m happy,” she says.
“He wants everyone to be happy. When he sees his brothers fighting, he asks them to make up. He doesn’t want his house to be a mess. Aside from the syndrome, I ‘s youngest son is also on the autism spectrum,” so it’s different for him. “
We also need to address the social aspects of this syndrome.
“I want people to know more about this syndrome and to accept people who are different from them. I’m not ashamed of boys. Another child comes and why is my son When asked why he was so thin and why he looked like this, he said, “I just explain that he was born this way and that everyone is born with a different condition. But It’s very difficult emotionally.”
Your eldest son is now the oldest living person with the syndrome.
“Yes. When he was born, people said to me, ‘Don’t obsess over him.’ It’s very difficult to start taking care of him.” I will break up with him soon. “
“At night I went to bed and thought about where to bury him and what to say. I told myself I wanted to tell him that I had done everything I could for him.” she added.
“This was my loving wish for him. Even now, when he goes through tough times sometimes, I often think it will end soon.”
None of the doctors expected him to turn 21.
“None. I’m glad he’s reached this age.”
How aware is he of his condition?
“I don’t know how much he understands. Now that the feeding tube is connected, I explained to him that drinking water by mouth can kill him. And he wants to drink.” He said he had no choice because he had a hole in his stomach.
“When I said I would follow his decision, he said, ‘I want to have surgery.'”
“I said I would follow his decision, but he said, ‘I want to have surgery.'”
How will they handle this situation?
“They love him. When I gave birth, I never dreamed that 11 years later I would have another child suffering from this syndrome. Everyone at home supported me and helped me.” He said he would.”
Everyone says he is the most important person in the house. He is a happy and optimistic child. He is also a very funny person. It wasn’t easy the first time, but now I have a lot of support and a greater awareness of the syndrome. “
Fewer than 50 children worldwide are identified with progeria syndrome. “I believe that their survival was due to Sarah’s dedicated care, determination and dedication. These children are receiving amazing treatment,” said Dr. Odelia Hollin, a geneticist at Sheva Medical Center. says.
“When we talk about premature aging, many diseases are involved. Recently, a baby was born at Lanvin Healthcare Campus with a similar, rare syndrome called Hutchinson-Guilford progeria. It can’t be detected by genetic testing,” she explains. .
“It is true that in Sarah’s case, during her second pregnancy, an ultrasound had signs that could identify and suspect that the child had the same syndrome, but under normal circumstances, advanced It can’t be detected without sequencing, a test that isn’t included in routine testing, and most couples don’t get tested.”
It took years to identify the gene responsible for Sarah’s child’s disease. Knowing the genes enables prenatal diagnosis and preimplantation diagnosis. However, even today some diseases are unknown, so without being able to identify a genetic cause, that would be impossible.
Progeria Syndrome is extremely rare, occurring in about 1 in 4 million people worldwide, but it was also portrayed in the Brad Pitt movie The Curious Case of Benjamin Button. It has become widely known to the world.
Dr. Hollin explains that the syndrome is characterized by children who usually appear normal at birth, whose parents seek medical help because of feeding difficulties and weight gain problems.
One of the hallmarks of children with this syndrome is a large head circumference, especially in relation to a small body, lack of subcutaneous fat, alopecia, unique nail structure, and skin rashes.
These symptoms make the child resemble an old person. As the disease progresses, children experience accelerated aging in various tissues, deafness, and arteriosclerosis.
“Children with this syndrome have a short life expectancy, averaging 14.5 years.”
“A baby born at Lanvin Healthcare Campus was diagnosed shortly after birth with the distinctive skin rash that characterizes the syndrome, raising suspicion among doctors.”
“Because of arteriosclerotic complications, including heart disease and brain disease, children with this syndrome have a short life expectancy, averaging 14.5 years. There are reports of increased life expectancy worldwide, suggesting advances in medicine can help.” We hope to extend the life expectancy of patients. ”
Clinical geneticists at Sheba, Dr. Hollen and Dr. Shlomit Eisenberg-Barzilai, explained: Progeria syndrome is caused by alterations in the LMNA gene, one of about 22,000 genes in the body.
Each gene is present in two copies, one inherited from the mother and one from the father. The syndrome is autosomal dominant, meaning that one copy change in the gene is enough to cause the disease.
In most cases, the syndrome is not inherited and the genetic change first occurs in the fetus because both parents have two normal copies of the LMNA gene.
Therefore, the genetic screening test to detect carriers of autosomal recessive disorders, which is recommended for all Israeli couples, does not detect alterations in this gene, making it the only method to detect alterations in these genes. is to do some sequencing checks.
Alterations in the LMNA gene can cause many diseases with a wide range of clinical manifestations, depending on where the alteration occurs in the gene’s coding sequence.
A common feature of the main symptoms of premature aging is caused by defects in protein-encoding processing of genes, resulting in the accumulation of defective proteins called progerin in various tissues. Accumulation of progerin leads to various tissue damage and accelerates aging.
Lonafarnib (Zoquinbee) is a drug that reduces the accumulation of progerin in various tissues and slows the progression of the disease. In addition, research is underway to explore gene-editing techniques (CRISPR) and techniques based on RNA molecules that affect transcription (antisense oligonucleotides) as possible treatments.
Another therapeutic option under advanced research is molecules that speed up the breakdown of toxic proteins.
“This syndrome is one of thousands of rare diseases in Israel, and it is a unique opportunity to raise awareness of rare diseases in general and the challenges and needs of the families of these patients,” Dr. Horen said.
“This and other rare diseases offer opportunities to better understand the biological processes of the human body and develop drugs that benefit both patients and humanity as a whole.”
