Every loving parent surely wants their child to be healthy and living a happy childhood life. Unfortunately, not every child is born or grows just like any other normal child. Sometimes diseases that are rare can affect these children starting from the first few days of living or maybe only show symptoms while growing up. Sadly, most rare diseases do not know the exact causes or risk factors and not even any medicine supplement can help prevent this from happening to their child. In this article, we will be focusing on a rare disease called progeria and who is most likely to get it.
Progeria or also known as Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic condition affecting a person in their childhood. Progeria causes extreme premature ageing which not only affects the facial appearance, but also the body system. Simply said, progeria makes a young child look like a really old person. This rare disease occurs as a result of a gene that does not work properly, specifically a change or mutation in the LMNA gene that codes for Lamin A protein. Defects to this Lamin A protein causes cells in the body to become unstable and lead to the process of premature ageing.
Anyway, who is most likely to get progeria? Since it is a rare disease, it is not exactly known who is most likely to develop this disorder. Although it is considered as a genetic disease, it is not common for it to be passed down in families. Parents who have already had a child with progeria, have 2-3% chance for another child to be affected by progeria. One thing for sure, it can affect both male and females equally, and all races. Progeria typically affects individuals at a younger age. Globally, it is estimated that 400 children live with progeria. Unfortunately, children with progeria typically have a short lifespan, around 13 years of age. In some cases, the child may succumb to progeria even at younger age or possibly live longer up to 20 years old. Most die at a young age due to complications of the heart disease, specifically atherosclerosis which is presented by heart failure or stroke. This atherosclerosis is due to abnormality of the blood vessels that is thickened and loss of elasticity.
Children with progeria typically seem normal at birth. Symptoms of progeria are commonly visible within a year of life, marked by failure to thrive by the poor growth and weight gain. There are some specific characteristics of the facial appearance that can be seen such as a large head not proportionate to the face, a narrow nose, thin lips shown by subtle blueness around the mouth, abnormally big eyes, small mouth and jaw. Other common features are loss of fat under the skin, delayed eruption (appearance) of permanent teeth, crowding of the teeth, joint contracture or abnormalities, deformed nails and loss of hair of the scalp, eyebrows or eyelashes (alopecia). A person with progeria may also experience nocturnal lagophthalmos, a condition where the eye is unable to close fully during sleep. Hearing loss is also common to be found among progeria patients.
Currently, there are no promising cures that can treat progeria. However, there are some medicines such as lonafarnib to help reduce risk of death by preventing build-up of defective progerin caused by defective Lamin A protein. This can help expand the lifespan for these children. The best way to manage a patient with progeria is generally to help them stay healthy by providing healthy meals and offering treatment to help ease the symptoms from developing into serious complications. Take care of health.
References:
https://rarediseases.info.nih.gov/diseases/7467/progeria
https://www.ncbi.nlm.nih.gov/books/NBK1121/
