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Progeria is a sporadic genetic condition in which the child starts ageing prematurely. By the time, the child turns two it starts appearing that she or he is getting old.
Since the disease, is detected when a child turns two years old – she or he will live average up to the 14 years.
Progeria is also known as Hutchinson-Gilford Progeria Syndrome (HGPS). Out of 4 million births that take place – it affects one in 4 million.
A tiny mistake in the gene cells creates an abnormal protein called progerin. This protein makes the nucleus unstable thereby making the younger cells dies easily, causing Progeria.
It is not a genetic disease but, if the there’s a family member who had Progeria, then there are 2 to 3 % chances the child will have the Progeria too.
Even the disease might take place because of mutation in one parent who does not have Progeria. A genetic test can help you out in knowing whether the parent has a mutation or not.
Being a parent, you might feel that your newborn child is doing well. However, over time, you will gradually come to the realisation that the growth rate has significantly decreased thereby stopping your child from gaining weight or increasing height.
Though, a child suffering from Progeria does possess a healthy brain and cleverness. A distinct change can be seen in their look. The children suffering from Progeria often have baldness, pale skin with wrinkles, pinched nose, fine lines, small face, big head and jawline with the size of the head.
Another thing you might notice is stiffness in the lower part of a body and spinal cord, dislocation of hips and so much more.
Also, there are many symptoms to determine whether the child is suffering from Progeria or not. We would personally recommend you to go under a clinical trial and right supervision of the doctor.
When the birth of the child takes place, it may seem like a healthy baby, but after 20 to 24 months, one will start noticing the changes in a baby.
Symptoms of Progeria
- Limited growth
- Less hair growth including that of eyelashes and eyebrows
- Visibility of Veins
- Lack of body fat in the body
- Unclear vision
- Stiffness in the joints
- Thin skin that shows the sign of ageing
- Comparatively larger head
- A small jaw
- Unusual tooth development
- High Tone of Voice
- Heart Disease or Stroke
If you observe any of the above symptoms then, consult a pediatrician or a doctor that will go under a clinical trial. If the diagnosis confirms in the blood reports, then visit a specialist.
Progeria does not influence the development of the brain or even the intelligence of the child. In fact, the child is able to sit, stand and walk just like a normal child.
However, unfortunately, there is no remedy of curing Progeria. The researchers are in constant search of finding the drug that will help in preventing Progeria.
According to a study published in the Journal of the American Medical Association, states that the children suffering through Progeria received lonafarnib twice a day have low death rate than that of the children who receive no treatment.
The children who have Progeria have to will have the stiffness in the joints. Therefore, you can go to the occupational treatment centre that will help in reducing the stiffness among the bones of a child.
In order to ease the life-threatening disease called Progeria, many children have gone through coronary artery bypass surgery and even angioplasty surgery to increase the life expectancy. However, unfortunately, there’s no cure for the disease. Generally, a child dies at the age of 13 due to heart stroke or silent heart attack. The doctor will prescribe some medications that will help in fighting the heart failure risk.
In 2003 according to the researchers, discovered that the mutation causes the Hutchinson-Gilford Progeria in the single cell. It is called lamin A (LMNA).
The LMNA gene comprises two proteins namely lamin A and lamin C. The primary role of both this protein is to make the inner membrane of the cell’s nucleus constant.
According to the reports conducted in the laboratory of Progeria patients, the researcher’s states that it is due to the LMNA gene that produces an atypical and strange form of lamin A protein.
This protein emerges out to cause the knock off-balance in the cell’s nucleus membrane in such a way that it becomes harmful to the tissues that have to undergo an unwanted and intense physical force like cardiovascular disease and musculoskeletal ( relating to both muscles and skeleton ) systems.
Interestingly these different mutations in the LMNA have also caused many other genetic disorders like muscular dystrophy.
Any Test To Determine Progeria?
Currently, there is a test available that can help you in identifying the Hutchinson Gilford Progeria Syndrome also known as the HGPS.
In the earlier times, the doctors have to look out for the physical symptoms mentioned above and other skin care related, weight gain, loss changes. These changes are noticed much after they are born at the age of 2 or 3.
As of now, the test helps to know much at the previous stage of the child. This will enable the doctor to initiate the treatment as soon as possible and give their best in increasing the lifespan of the child.
After the diagnosis of the Progeria, the child needs to go through the medical treatment for many years to come. Additionally, the child is also given medications for the daily life issues that she or he will face.
Alongside, it is VERY IMPORTANT to give the right food that is healthy and contains all the necessary nutrients. Do not force the child in any matter. Let him, or she does the exercise or the activity according to their comfort level.
Try to involve lips, carbs and fat by means of food.
An important point to consider is to protect the skin of the child. Apply sunscreen that is not allergic to the child’s skin. Besides, keep padding in the shoes of that will help to relieve the discomfort caused due to lack of fat.
Many times, when the child starts growing and comes to about the disease, they are emotionally broken. Therefore, support your child. Motivate him or her in doing the activities they love. Just be there whenever your child needs you.
It is not only the kid who shatters emotionally, but the parents are in constant worry that today might be the last day with my child. However, if you are someone who knows such parents then encourage them, stand by them through hard times – it will help them in recovering and gives strength that they aren’t alone in this battle.
Lastly, the awareness related to Progeria is minimal. In fact, many times the parents come to know about the disease in last moment, hence, share this article with everyone, discuss the condition and bring awareness among your surrounding of Progeria – a rare and rapid raging disease.