Understanding the Health Risks of Progeria Syndrome
There is absolute happiness in watching your child grow and mature into adulthood. It's every parent's wish for their child to live a long and happy life and to be there to witness it. However, no parents would wish to see their child grow old at a fast pace within a few months or years.
However, there is such a condition affecting a notable number of children in the world. It is called progeria syndrome, and this article aims to enlighten parents about this disease, its cause, symptoms and treatment option.
What is Progeria Syndrome?
Progeria syndrome, or progeria, is a rare progressive genetic disorder that causes a child's appearance to age at an accelerated rate. This rapid growth, however, does not affect motor skills nor intellectual development.
Children diagnosed with progeria have an average life expectancy of 13 years. Some affected children may live beyond or die before this age. The usual cause of death in children affected by progeria is due to heart complications.
Progeria has notable similarities with Wiedemann-Rautenstrauch syndrome and Werner syndrome. Both of these diseases exhibit rapid aging and shortened lifespans among the affected individuals.
Progeria Syndrome Signs and Symptoms
A child with progeria usually appears normal at birth but starts to develop its signs and symptoms during the first year. During the onset, one or more of the physical distinctions of the disease begins to appear:
- A below-average height and weight
- A seemingly disproportional size of the head
- Hair loss in areas such as eyelashes and eyebrows
- A small lower jaw, beaked nose, thin lips and a narrowed face
- Visible veins
- High-pitched voice
Although rapid aging is the main symptom of this disease, children with progeria don't die because of rapidly reaching "old age" but usually due to heart attacks. Cases of progeria are often accompanied by other health issues such as:
- Mostly severe progressive heart and arterial diseases
- Tightening and hardening of some parts of the skin
- Loss of fat under the skin
- Loss of muscle mass
- Low bone density and skeletal abnormalities
- Resistance to insulin
- Joint stiffness
What Happens Inside the Body When You Have Progeria?
Changes inside the body occur at the molecular level. Progeria is due to a mutation of the lamin A (LMNA) gene. This gene is responsible for producing proteins required for cell nucleus integrity.
Mutated lamin A genes produce another form of a protein called progerin that causes cell instability. Progerin build-ups in the cell, causing it to mature at a faster rate.
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How Does One Acquire Progeria Syndrome?
There are no known risk factors that increase the chances of a child developing progeria. Regardless of gender or race, everyone has an equal chance of acquiring this genetic mutation.
Lifestyle and environment are still up for debate if whether they can increase the chances of progeria. Although genetic illnesses are often hereditary, genetically acquired progeria is rare, as most cases are due to a chance occurrence.
Even for parents who previously had a child with progeria, the chances of having another child with the same disease are around 2% to 3%.
Is There a Treatment for Progeria?
There is no known cure for progeria at this time. All treatment interventions focus on delaying or easing the symptoms of this disease.
Physical and occupational therapy are common treatment interventions for progeria. Therapy sessions aim to address hip and joint symptoms and reduce the rate of muscle loss in affected children.
Medications that reduce cholesterol levels and prevent blood are often prescribed for progeria to minimize the chances of heart attacks. Small doses of aspirin every day can also help achieve the same purpose. Growth hormones can also be prescribed for building height and weight.
Surgical procedures, such as angioplasty or coronary bypass surgery, can help slow down the progression of heart ailments that comes with progeria.
Some aspects of progeria treatment can be addressed at home. Children affected by this disease have a risk of being dehydrated. Ensure that they are getting lots of fluid intakes, and the caregiver must know how to identify early signs of dehydration. Inserting small snacks between meals also helps them compensate for the loss of fat and muscle mass. Joint supports and cushioned shoes help reduce discomfort on movement and encourage them to engage in physical activities, such as play.
In Conclusion
Although this disease is still incurable by modern medicine, researchers look into a potential solution for progeria. Farnesyltransferase inhibitors (FTI), a type of cancer drug, have shown their ability to fix damaged cells and their possible use in treating progeria in the future.
Life-threatening diseases such as progeria require regular check-ups and follow-up visits. To ensure that your children can still perform normal activities for their age and state of health, consult with your doctor.
The challenges that your child is facing will always be there. But with their loved ones' care and support, living a normal life may be attainable.
