100 children around the world and 142 children in particular, progeria or Hutchinson-Gilford syndrome, According to data Progeria Research Foundation. They were born healthy children with mutations in the lamin A gene.The defective proteins produced by this genetic malfunction create unstable cells that can lead to premature aging. By the age of two, children begin to experience symptoms such as slow growth, weight loss, cellulite on the abdomen…and the condition worsens. Average life expectancy is 14 years.
alexandraEsther’s daughter, one of those girls with the body of an old man. At age seven, he was below average height and weight, had a large head, and was bald. In addition to these signs, she already suffered from cardiovascular problems such as atherosclerosis, was photophobic, tired when walking, and in fact had insoles specially made for her. “At such a young age, he is not showing all the symptoms yet, but as he grows the degenerative process will intensify,” his mother says in this chapter of “Unusual Stories.”
These children and teenagers suffer from the same “diseases” as older adults: arthritis, osteoarthritis, brittle bones, stiff joints, very thin skin, visible bones, fatigue, and reduced mobility. “Before the pandemic, we attended a European conference for families with children with progeria. There were 17 of us, most of them teenagers, all in wheelchairs,” recalls Esther.
In recent years, a treatment has been developed that can slow the progression of the disease.
this pathology There is no cure. In recent years, a treatment has been developed that can slow the progression of the disease, but life expectancy in many cases still does not exceed 15 years. Of 142 children with progeria, only one young man lived longer than 20 years. He is Sammy Basso, now 27 years old, who played an important role in the development of this pathology today.
Advances in testing and research
Diagnosis has improved since the discovery of the genetic mutations underlying this pathology. The problem is that there is a severe lack of understanding of this rare disease, and due to its low prevalence, the same condition exists in all people who make up the so-called rare disease.Esther reports that on average, families with progeria take It takes two to four years to get a diagnosis. That is, by the time children are four to six years old, the problems they have are identified and can be solved.
“Expediting the diagnosis of progeria and other rare diseases is very important. Without them, you can’t provide the best care to patients.” Progeria Association Alexandra Perrott, He used it to make the disease visible and try to aid research.
“We need more research support. With this and other rare diseases, having solutions for everyone is a motto.”
A state-approved treatment has emerged in recent years U.S. Food and Drug Administration (FDA) means change for patients. It is a drug that slows the progression of the disease and extends patients’ life expectancy. However, as Esther denounced, it had important side effects. “In Europe it’s not approved and it’s difficult to get through customs. Alexandra was taking it but when we had problems continuing to take it we stopped it and the only thing she got was a dietary supplement .”
Beyond this drug, work is ongoing In the development of gene therapy. Research is making progress, and experts say the results are “very promising.” However, this process is slow, “We need more research support. Being able to provide solutions for everyone is the motto of treating this rare disease.” Esther said.
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