To date, 125 cases of progeria have been diagnosed worldwide, 12 of which are in Europe. How many remain unrecognized is unknown.
Sam was born a pretty, healthy looking boy. During the first months, the baby was developing perfectly well. Until the ninth month, when it turned out that he was not gaining weight. He was a small child, much shorter than his peers. His head, disproportionate to the rest of his body, attracted attention.
Sam’s parents started looking for help. None of the doctors saw anything disturbing about it.
– Finally, when Sam was small, much smaller than his peers, we went to several nutritionists for a consultation. But it didn’t help either – says Leslie, Sam’s mom, in an interview with MedOnet. – Everyone thought there was no cause for concern.
Meanwhile, Sam’s condition continued to deteriorate. Additionally, when he was 22 months old, he started losing his hair. The boy’s parents started searching the Internet for more information about his symptoms and browsing the scientific literature.
“And only our friend told us it could be progeria,” recalls Leslie. – Then we started looking closely at his X-ray pictures. He himself had a very short clavicle bone and other symptoms of the disease shown in the photo – he adds.
From that time on, the fight against the disease began, a fight for every day of a child’s life. Because in the case of progeria, time is of great importance.
“ The problem we encountered at the time was the lack of available information about the disease, ” says Leslie, and explains that in such a rare disease, few doctors were able to diagnose it, especially since there was no genetic testing yet, and the cause of progeria was unknown.
Nobody was able to offer them help, and the knowledge contained in the scientific literature was very poor.
– I have a PhD. I treat children on a daily basis, but I have never heard of progeria, even in college, ”says Leslie. – We only knew that it was a fatal disease and sick people usually die of: cardiovascular diseases, strokes and heart attacks, on average at the age of 13. However, we were aware that a stroke can occur at any time, even in a five-year-old child – he adds.
Sam, like other children with progeria, had a normal body weight at birth and the disease was asymptomatic in the first months. Then, gradually, symptoms such as weight loss, sagging skin, loss of hair and eyebrows started to appear. The first wrinkles form on the skin. Children with progeria are often late-teething.
In the following years, more extensive changes take place: the child is short and lean. Characteristic is a disproportionately large head with a receding, underdeveloped mandible, clear veins on the scalp, bulging eyes. The chest is irregularly shaped, the collarbones are short, the hips are valgus. The skin is thin, dry and parchment-like, with wrinkles and characteristic age spots. The child is not sexually mature, has a high, squeaky voice. However, his mental development is running smoothly. Often children with progeria are extremely intelligent or above average gifted. But time is running very fast for them.
Living with the disease
Living with a child with progeria is not easy. These children are just as intelligent as their peers, they can go to school, be friends with other children. It is important to them. – He went to high school himself, attended school dances, played snare drums in a local orchestra – says mom.
But at the same time, there is a whole list of things that need to be monitored. Annual cardiac echo, carotid Doppler to monitor baby for cardiovascular disease, periodic MRI of the brain to assess stroke risk. It is also important to keep your baby hydrated as the blood vessels are stiff and inflexible.
You also need to monitor the health of the bones, especially the hip bone, as there is a risk of developing a valgus hip that can eventually lead to dislocation of the hip. Therefore, check-up radiographs are also important.
With the help of science
Work is underway to find a drug for progeria. The first clinical trial was conducted at a children’s hospital in Boston thanks to funding from the Progeria Research Foundation. Children from all over the world were included in the study. The Foundation made it possible for anyone wishing to participate in the study to come to Boston. Then there were more. Several drugs have been proven effective. However, they only allowed the symptoms of the disease to be controlled. A cure for the disease has not yet been invented.
Parents of children affected by progeria are happy with every new drug, every hope. They are ready to do anything to alleviate the suffering of children.
Parallel to the work on an effective pharmaceutical, research is underway to answer the question of what gene mutation is responsible for the development of progeria. Intensive work revealed the etiopathogenesis of the disease. Today it is known that the gene responsible for the Hutchinson-Gilford syndrome lies on the first chromosome. It encodes Laminate A, a protein that is responsible for gene expression as well as the regulation of proliferation, as it can act on growth factors. It was also confirmed that a mutation in the gene encoding laminate A affects the aging of the cell, and thus the entire organism.
The loss of normal, healthy cells leads to an imbalance of the entire body and defects in the proper functioning of tissues. In children with progeria, diseases characteristic of an older age are revealed: joint stiffness, rheumatic diseases, and neoplasms. Cardiovascular diseases are typical, most often leading to a heart attack or stroke and, consequently, death. Children affected by progeria live on average 12-13 years old, hoping that someday a cure for progeria will be invented, that someone will be able to reverse their biological clock, beating far too fast. He himself did not get an effective cure for his disease. He died on January 10, 2014 at the age of 17.
Tekst: Lidia Banach