What is Progeria ?
It is a rare genetic disorder which causes the rapid ageing of children. Progeria is coined from the Greek word progeros, which means prematurely old. There are different types of progeria, but there are only 53 cases that are known all over the world. A child who has this condition is born looking healthy, but by the age of 2 years, signs of rapid ageing starts manifesting. You will find that the child suddenly stops growing, loses fat, hair, and the skin begins to look like that of an aged person. The children develop stiffness in their joints and hip dislocation. They also develop heart disease and can even get a stroke. The uncanny characteristic of this condition is that all the children look similar even if they come from different parents. Research into ways in which to stop this ageing process is at an advanced stage, and scientists say that the cure would also help adults who are aged, to stop having heart diseases. There is a similar condition, known as Wiedemann-Rautenstrauch syndrome, but the only difference is that the ageing here starts while in the womb, whereas for progeria the ageing starts after birth.
What causes progeria ?
Lamin A is a protein that holds the nucleus of the cell together. Children with this condition suffer a genetic mutation which leads to the production of defective Lamin A, thereby making the nucleus unstable. It is this instability that leads to the rapid ageing of these children. There is no direct cause of this condition, and it is very rare, that you can find children from the same family having this condition. According to experts, this condition is not hereditary, and happens by pure chance. In only 1 out of a 100 cases that you may find the condition happening along family lines.
Diagnosis
If the child starts exhibiting signs of ageing, such as hair falling off, aging skin, stiffness in the joints, the doctor will confirm that the child has progeria. The doctor should then confirm through a genetic test.
Progeria Treatment Options
Farnesyltransferase inhibitors (FTIs) might be able to reverse the nucleus structural defects that cause this condition. Right now FTIs are being used to treat Cancer, and studies that were carried out on rats that had a condition similar to progeria, improved a lot after being treated. Out of 20 rats, only 1 died, with the study going on for 20 weeks. A clinical trial was done on children and the results released in September 2012, and the results showed that there was weight gain, improvement in the bone structure and the cardiovascular system.
Other means of managing the condition include:
- Using low-dose aspirin in order to prevent the occurrence of heart attacks.
- Statins to lower the blood cholesterol.
- Anticoagulants to prevent the blood from clotting.
- Growth hormone to bring about increase in weight and height.
- Physical therapy to combat the stiff joints and also the weakened hip bone.
- The primary teeth should be extracted since the permanent secondary teeth will come in before the primary fall off.
Complications
It has been said that most children with this condition die at the age of about 13, and mainly due to heart attacks or strokes. The reason behind this is because these children develop severe hardening of their arteries. Atherosclerosis causes less blood to be pumped from the heart. The result is a stroke, or a heart attack. Although the body seems to be aging, the mind of the child is very young. Therefore you will not find these children getting Alzheimer’s, or farsightedness.
Lifestyle changes
If your child has got progeria, you will have to make some changes in lifestyle to accommodate the child. He or she should be well hydrated, since they tend to be more vulnerable to dehydration. You should ensure that the child has frequent small meals, to increase the caloric intake, in an effort to add weight, and height. You should have a number of activities that the child can do without risking harm. Remember, that he or she is still a child in mind, and will want to play. They lose a lot of body fat in their feet, and it is a good idea to ensure that the shoes are well padded. Take the child for the normal immunizations, and you should provide a learning facility, since the condition does not affect the child mentally.
Remember that your child will experience a lot of grief when he or she knows that the condition will shorten his or her lifespan. He or she has to learn how to deal with the concept of death at a very early age. The child will need your help in dealing with things spiritual, and be ready for that dreaded question, “Why me?”
Progeria Pictures
Here are images of progeria, a rare accelerated aging disorder in kids.
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