Progeria is a condition that affects young children. It causes the child to experience aging from the tender age of two. Known as Hutchinson-Gilford syndrome in medical parlance, it is a rare genetic disorder. Such children generally have a low life expectancy. Nonetheless, modern research has made progress, with proper treatment becoming more promising.
The doctor may diagnose your child’s condition as progeria if they show signs of rapid aging. Medically known as Hutchinson-Gilford syndrome, it is sometimes called Benjamin Button disease that refers to the film and fiction ‘The Curious Case of Benjamin Button.’ It is a very rare condition caused by a mutated LMNA gene in your child’s body. It affects both girls and boys equally and does not favor any particular race.
Sadly, the life expectancy of progeria-affected children is 13 with rare instances of the patient surviving until 20. A single mistake in some gene leads to make an abnormal protein called progerin. When the cells use this progerin, they break down more easily. This leads kids with progeria to age quickly.
What are the symptoms of progeria?
Intelligence and physical development is not hampered in the child after birth. But your child may develop the following symptoms and change in appearance as they age:
- Reduced growth with height and weight not being up to the normal standards
- A thin face with a thin lower lip, beak-like nose, and a small lower jaw
- Head bigger in size in comparison to other facial features
- Prominent eyes with the eyelids being incapable of closing fully
- Hair loss all over the body including from head, eyelashes, and eyebrows
- Thin skin marked with spots and wrinkles
- Prominent veins
- Shrill high-pitched voice
- Severe cardiovascular (heart & blood vessels) diseases that progress with time
- Tightening of the skin in the trunk and limbs
- Abnormality or delayed teething
- Loss of hearing
- Reduced fat in the skin with loss of muscle bulk
- Abnormality in skeletal structure resulting in brittle bones
- Increased chances of hip dislocation
- Stiffness of joints
- Resistance to insulin
When do you need to see a doctor?
Have your baby examined by a doctor if you notice signs of abnormal growth and development. Discuss the matter at the earliest in order to diagnose the condition. You may also have to see a medical genetics specialist who can confirm the diagnosis with a blood test.
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What are the treatment options for progeria?
There is no known cure for progeria at present but medical researchers are hopeful of a breakthrough in the future. The doctor will examine your child and note the weight and height to check for abnormalities in growth. Regular monitoring of the cardiovascular system will help to keep the condition under control. The doctor may recommend therapies to delay progression. Some of the symptoms may also be treated to provide relief to the child. Your child may be prescribed the following:
- A low dose of aspirin everyday to prevent heart attack and stroke
- Statins to keep cholesterol under control
- Medication to lower blood pressure
- Anticoagulants to prevent clotting
- Medicines to provide relief from headaches and seizures
- Physical and occupational therapy to reduce joint stiffness
- Nutritious, high protein food to nourish the body
- Hydration throughout the day by encouraging them to drink water regularly
- Application of sunscreen to the skin in order to prevent dryness
- Dentalcare to prevent tooth problem
- Growth hormone can help build height and weight.
- The FDA has approved lonafarnib (Zokinvy) prevent the buildup of defective progerin which can effect the heart.
What are the complications associated with progeria?
Your child may develop atherosclerosis with the blood vessels becoming hard enough to restrict the smooth passage of blood. Cardiovascular problems arise due to this abnormality.
Progeriais a progressive genetic disorder caused by mutation of a specific gene. It affects children during infancy and is life-threatening. Although there is no cure at present, you may visit a doctor to keep the condition under control and enhance the child’s quality of life with proper management of the symptoms.
Frequently Asked Questions (FAQs)
What kind of specialist should I contact for the treatment of my child who has been diagnosed with progeria?
Your primary care doctor may be able to care for the child initially. However, you would be advised to consult a pediatrician and cardiovascular specialists to manage the condition.
I am expecting my first baby. Is there any risk of the baby developing progeria?
This is an extremely rare condition with only 1 out of 4 million children being affected.
Will other children of my family catch the disease from another child afflicted with this condition?
Progeria is a genetic condition that is not inherited or contagious. Only a genetic test will reveal the existence of a mutated gene.