Progeria, also known as Hutchinson-Gilford Syndrome, is an extremely rare childhood genetic disease, characterized by accelerated aging about seven times over the normal rate.
Generally, the first symptoms appear at around 2 years of age including very lens growth and hair loss, for example. Because it is a disease that causes rapid aging of the body, children with Progeria have an average life expectancy of 14 years for girls and 16 for boys.
Unfortunately, the disease still has no cure, but the problems that arise can be treated to improve the child's quality of life. Thus, it is very important to keep a constant monitoring at the pediatrician or other specialist doctors, such as cardiologist, depending on the problems.
What causes Progeria
The disease is caused by the change in a single gene, known as Blade A. This gene is responsible for producing an important protein that keeps the cell nucleus stable. Thus, when the mutation happens, the cells stop functioning normally, aging faster.
Unlike most mutations, this change is only from parents to children, occurring in the sperm or egg just moments before ovulation. Thus, it is not possible to prevent the development of the disease.
Main characteristics of the child
The first and main characteristic of Progeria is that the disease causes a very marked decrease in the baby's growth rate during the first year of life. However, the child continues to develop intellectually, acquiring new abilities.
The main changes in appearance appear from the second year of age and include:
- Thin face with small chin; Head much larger than face; Loss of hair, including eyelashes and eyebrows; Sharp delay in the fall and growth of new teeth; Thin skin with visible veins; Protruding eyes and with difficulty to close the eyelids.
However, during the development of the disease, health problems also arise, such as:
- Difficulty hearing; Inflammation of the joints; Brittle bones that suffer constant fractures; Development of diabetes; Cardiovascular problems such as hypertension and heart failure.
If any of these symptoms appear during the first or second year of life, it is important to inform the pediatrician so that he can assess these characteristics and confirm, or not, the diagnosis of the disease.
How the treatment is done
There is no specific form of treatment for this disease and, therefore, the doctor suggests some treatments according to the problems that arise. Among the most used forms of treatment are:
- Daily use of aspirin: allows to keep the blood thinner, avoiding the formation of clots that can cause heart attacks or strokes; Physiotherapy sessions: help to relieve joint inflammation and strengthen muscles, avoiding easy fractures; Surgeries: are used to treat or prevent serious problems, especially in the heart.
In addition, the doctor may also prescribe other drugs, such as statins to reduce cholesterol, or growth hormones, if the child is very underweight, for example.
The child with progeria must be followed by several health professionals, as this disease ends up affecting several systems. Thus, when the child begins to present joint and muscle pain, he should be seen by an orthopedist so that he recommends the appropriate medication and gives guidance on how to spare the joints, avoiding the worsening of arthritis and osteoarthritis.
The cardiologist must accompany the child from the time of diagnosis, since most of the carriers of the disease die due to cardiac complications.
All children with progeria must have a diet guided by a nutritionist, to avoid osteoporosis as much as possible and improve their metabolism.
Practicing any physical activity or sport at least twice a week is also recommended, as it improves blood circulation, strengthens muscles, distracts the mind and consequently the family's quality of life.
Being advised by a psychologist can also be useful for the child to understand his illness and in cases of depression.
