Children who have progeria, an extremely rare genetic illness, age quickly. Children with progeria appear healthy at birth but typically begin to rapidly age within the first two years of life. There is discussion of symptoms, diagnosis, and treatment.
What is Progeria & How Common is it?
Progeria is a hereditary condition that worsens over time and makes kids age quickly. It is also known as the Hutchinson-Gilford Progeria Syndrome (HGPS) or the Benjamin Button disease (named after the film ‘The Curious Case of Benjamin Button’.
Children with progeria may appear healthy at birth but typically begin to age rapidly within the first two years of life. Some live into their early 20s, but the majority pass away by the time they are 13 or 14. Heart disease or stroke are frequently the cause of mortality.
One in twenty million persons worldwide suffer from progeria. Around 350 to 400 children live with progeria at any given moment, according to the Progeria Research Foundation. Boys and girls appear to be affected by progeria equally, and no one race is affected more than others.
What Causes Progeria?
Progeria causes involve a mutation in the lamin A (LMNA) gene. The gene produces a protein that keeps the cell's nucleus together. In progeria, the body produces progerin, an aberrant type of lamin A that accelerates ageing.
The LMNA gene mutation is not inherited from parents to children. In reality, progeria seldom affects parents or siblings of progeria-affected children.
What Are the Symptoms of Progeria?
Within the first two years of life, children with progeria start to exhibit signs and symptoms of fast ageing. These consist of:
- Failing to develop as quickly as their contemporaries
- Baldness
- Reduced body fat
- Skin appears old and wrinkled
- Stiff joints
Other progeria symptoms and indicators include:
- Small faces compared to their large heads
- an exposed soft area on the head
- Pinched looking nose
- Teeth that develop slowly
As the illness worsens, symptoms including hip dislocation, arthritis, cataracts, plaque buildup in the arteries, and heart disease start to appear. Strokes do occur in some progeria youngsters.
Children with progeria typically have intelligence levels on par with their peers despite these physical issues.
How is Progeria Diagnosed?
In 2003, the gene that causes progeria was discovered, and a genetic test was developed to determine whether progeria is the cause of a child's symptoms. The child's blood must be drawn for the test. (Prior to the development of this test, progeria could only be diagnosed by clinical examination and X-ray.)
Your doctor can get in touch with the Progeria Research Foundation if they have cause to think your kid might have progeria. The medical director of the foundation will examine the case and make arrangements for the test to be performed at no cost to the family. Results usually appear in two to four weeks.
How Can Progeria be Treated?
Progeria cannot be cured, however various medications are being researched as potential treatments.
These kids may benefit from physical therapy to improve their posture, balance, and range of motion as well as to ease hip and foot pain. They can improve in functional areas including eating, keeping up with personal cleanliness, and handwriting with the help of occupational therapy.
Progeria-affected children can considerably benefit from care that enables them to live as healthy and comfortable a life as possible. Typically, this comprises-
Heart disease monitoring– Monitoring for heart disease involves routine procedures like echocardiograms and blood pressure checks. Some heart disease risks can be decreased with the use of statin medications and low-dose aspirin therapy.
Imaging tests- Tests such as magnetic resonance imaging, or MRI can be used to check for headaches and seizures, both of which are common in these kids, as well as to screen for strokes.
Hearing assessments– Progeria in children can cause hearing loss that can be helped with hearing aids.
Regular eye exams– Some progeria children have vision issues, such as farsightedness or dry eyes. They could potentially get cataracts as the situation worsens. These kids may have shorter eyelashes and eyebrows, which increases the likelihood that foreign objects will irritate their eyes. In rare circumstances, it may be advisable for children who have a strong sensitivity to light to wear sunglasses.
Keeping a check for skin issues– The initial symptoms of progeria are frequently black spots or bulges on the skin, hair loss, itching, and skin stiffness that limits motion and can make breathing and digestion difficult.
Regular dental checkups– Dental checkups are important since progeria children are more prone to have dental issues such cavities, severe crowding, and receded gums.
Monitoring of bone health- Children with progeria may experience a range of concerns with joint health as well as bone growth and development.
Hutchinson-Gilford Progeria patients require a healthy diet to grow. Some children might require extra nutrition (including a feeding tube). Keeping the child hydrated can help lower the possibility of developing sudden neurological issues. Discuss with your child's doctor healthy approaches to motivate your youngster to consume enough calories and fluids.
Agilus Diagnostics, a subsidiary of Fortis Healthcare Limited
