Progeria: What Every Parent Must Know About This Rare Condition

No parent wants to learn that their child has progeria or Hutchinson-Gilford progeria syndrome. This genetic disease remains extremely rare and causes the individual to age rapidly. The aging process begins in the first 24 months of life.

 A child with this condition looks healthy when they are born. However, parents notice during the first 12 months of life that the child has slow growth and appears to be losing fat tissue. If they have hair, their hair will be lost. When parents are given the diagnosis, they want a progeria symptoms causes and treatments 191576 resource so they know what to expect and how they may help their child have the highest quality of life during their short time on earth.

Most children with this condition pass away due to a stroke or hurt issues. Children with this disease typically live 15 years. However, some children die at a much younger age, while others live to be about 20 years old. At this time, researchers have yet to find a cure for progeria. They continue looking, and new treatments and research look promising. Parents may find it easier to manage their child’s symptoms and complications thanks to these advancements. 

Progeria Symptoms

Children with progeria initially grow like their peers. However, within the first 12 months of life, these children often experience slow growth. Motor development progresses as expected, as does their intelligence.

The child may struggle to gain weight, often resulting in being below average height and weight. There is no fat stored underneath the skin, and their head is enormous when compared to their facial features. These children often have thin lips and a small jaw and mouth. The nose is thin and crooked and hooks slightly at the end, giving it the appearance of a bird’s beak. Children with progeria typically have large eyes, and their eyelids fail to close completely.

Many infants don’t have hair on their heads, but their parents notice that their eyelashes and eyebrows fall out. It is easy to see the veins through the skin because of its thinness and spottiness. These children also typically have a high-pitched voice.

Children with progeria often develop cardiovascular disease, and their skin hardens and tightens. Their teeth may not form when their peers do, and the tooth shape is frequently unusual. The child may also have some hearing loss.

Any fat and muscle in the child will disappear as the disease progresses. Their bones fail to grow and develop properly, leading to stiff joints and other joint issues in these children. Hip dislocation is common in children with progeria.

Those children who make it to the teen years often don’t enter puberty. If they do, they don’t progress through this stage of life. Progeria also comes with insulin resistance.

Diagnosing Progeria

Most children are diagnosed with this condition at an early age. Their pediatrician notices the signs of premature aging and begins exploring the other symptoms they have. Any parent who notices the signs of progeria or has concerns about their child’s growth and development should make an appointment with the pediatrician immediately.

Progeria Causes

Parents often want to know if they did something that led to their child developing progeria. A change in a gene leads to this condition. The Lamin A gene makes a protein that holds the nucleus of a cell together. When this gene is flawed, progerin is made.  This abnormal Lamin A protein leads to cell instability and brings about the premature aging process, and this change in the gene happens by chance. If one child in the family has it, the other children are unlikely to have it. Researchers are investigating whether the age of the father could increase a child’s risk of developing this condition. Fortunately, this condition is rare.

Diagnosing Progeria

Doctors initially diagnose a child with progeria based on the symptoms they see. However, genetic testing must be done to confirm this diagnosis. The pediatrician will measure the child’s height and weight and place this information on a growth chart to see how they compare to their peers. Hearing and vision testing may be conducted, and the pediatrician will measure the child’s vital signs, including their blood pressure.  Parents should feel free to ask as many questions as necessary to determine how best to care for their child and provide them with the highest quality of life.

Complications of Progeria

Atherosclerosis, or severe hardening of the arteries, is common in children with progeria. When the walls of the arteries thicken, the blood vessels are no longer able to carry nutrients and oxygen throughout the body. The arteries most infected include those in the brain and heart.  Most children who die from this disease do so because of complications related to atherosclerosis.

Managing Progeria Symptoms

Researchers have yet to find a cure for progeria. Parents focus on managing the child’s condition and monitoring them for heart and blood vessel disease.  The pediatrician will measure the child’s weight and height at each visit and put them on a chart to compare them to their peers. Children with progeria also frequently undergo electrocardiograms and echocardiograms to check their hearts.  They will also need regular X-rays, MRIs, and exams for vision, hearing, and dental health.

Children with this condition frequently take Lonafarnib, an oral medication that prevents progerin from building up in the cells. This medication helps slow the progression of symptoms, allowing children to possibly live longer. Doctors often recommend a daily dose of low-dose aspirin to reduce the child’s risk of having a heart attack or stroke, and other medications may be provided to prevent blood clots, treat headaches, or improve heart function.

Physical and occupational therapy can help alleviate joint stiffness and hip problems, aiding in the management of daily activities. Children with progeria need a balanced diet that contains high-calorie foods to help them maintain their weight. Nutrition supplements may also be required to ensure the child is taking in enough calories.

Many children with progeria benefit from hearing aids, although not all do. They need to see an ophthalmologist regularly to help with dry eyes and damage to the eye surface caused by being unable to close the eyelids completely. Furthermore, regular visits with a pediatric dentist are needed to treat dental issues early, as they are common in children with progeria.

Hearing that a child has progeria is terrifying. Moms and dads don’t want to lose their infant at any time. Parents should outlive their children. They need to hold on to hope, as researchers continue to look for a cure for this deadly disease. Hopefully, that cure will come in the child’s lifetime.