Hutchinson-Gilford Progeria or shortened just for Progeria is a rather rare disease. It is known to affect only a small proportion of the total global population. From the statistics available, one in every 4 million births become a victim to Progeria. However, that in no way means that we should disregard the condition as a whole.
Although the affected rate may be minimal, there are two important points to consider. First and foremost, Progeria affects children at birth which tells us that is a rare genetic disorder. However, it is not inherited or passed from the parent to the offspring. Second, and unfortunately, babies who are diagnosed with the disease fail to live beyond the average of 13.
The cause of why the condition may result is not that complicated to understand. Our genes are designed naturally to synthesize certain right types of protein. Any sort of defect within the gene may result in an abnormality. That is what happens in Progeria. A faulty gene starts synthesizing abnormal protein called progerin which starts building up in different cells of the body. The consequences may be many but one common sign is that the child starts exhibiting symptoms of ageing.
Symptoms of Progeria
As just mentioned, the best way to keep a note of the disease is to look for signs of ageing. Normally babies who are diagnosed with progeria seem healthy. However, within just a span of one year, the symptoms start to set in. The two most common being: underweight and short height. With the passage of time other physical deformities may start occurring:
- Large uneven head
- Big eyes
- Impeded tooth growth (or zero growth at times)
- Visible veins on the skin
- Deep voice
- A disproportionately smaller jaw
- Going bald and hair loss of the eyebrows
The severity of the symptoms worsens as children age. The situation appearing to be very similar to what happens as a healthy individual enters later stages of life. The bone density decreases, arteries hardened and above all risk of cardiovascular illness increases. Not surprising to state that most children with progeria die because of a heart attack.
Diagnosis & Treatment
The apparent symptoms will suffice you enough to diagnose Progeria. If you suspect your child to exhibit either of the signs, make sure to book an appointment with a doctor. The doctor will henceforth conduct some physical examinations along with hearing and vision test to arrive at a solid conclusion. The basic motive is to compare the symptoms with that of a normal same-age child.
Unfortunately, to say, there is no viable medical treatment available to cure Progeria. Certain drugs and medication may help control the intensity of the symptoms but are not themselves treatment procedures. For example, it is common for the patient to be prescribed medications to lower cholesterol level.
However, on a slight fortunate note, research is ongoing to come up with a better solution to the problem. The only progress so far is the discovery of Farnesyltransferase Inhibitors or FTIs to recover damaged cells. How effective FTIs will prove to be remains yet to be seen. TIll then we should let our hopes rely on further medical research.