Named after the fictitious story penned by F. Scott Fitzgerald, the condition is real though it may seem like a science fiction to most. While the story has garnered a lot of fiction lovers, the disease has also been intriguing researchers for many decades now.
Progeria or Benjamin Button disease is a genetic disorder that forces children to age rapidly which means they are prone to all the ailments that affect older groups of people. In Ocular manifestations in the Hutchinson-Gilford progeria syndrome, Dr.Shicharan. L. Chandravanshi observes, “The word progeria is derived from the Greek word progeros meaning ‘prematurely old’.
It is caused by de novo dominant mutation in the LMNA gene.” When there is a defect in its formation, the cells start aging double their speed. This stunts their growth and ultimately they succumb to death. According to Dr. Leslie B. Gordon, “Hutchinson-Gilford progeria syndrome (HGPS) is characterized by clinical features that typically develop in childhood and resemble some features of accelerated aging. Children with HGPS usually appear normal at birth. Profound failure to thrive occurs during the first year”. This makes it extremely difficult to diagnose and often when it is, it would be too late.
The good news is that it is not that common and as WHO says only 1 out of a million children grow up to have Progeria. “As of December 2020, the Progeria Research Foundation International Progeria Registry has identified a total of 131 children and young adults living with progeria worldwide including 20 living in the US”, reports the Rare disease database. However, it is not without its own set of symptoms.
Common Symptoms Of Benjamin Button Disease
The symptoms of Benjamin Button disease often vary and are fatal but there are some common points you need to watch out for.
1. Rapid Aging- This is the most obvious sign. The children look older than their age and often resemble a Septuagenarian or an Oxygenarian.
2. Growth Deficiency- Due to their aging, they often have stunted growth that impacts the way they walk, talk, or behave.
3. Cardiovascular Complications- Children are prone to cardio infarctions that make them open to heart attacks or strokes like older people.
4. Alopecia and Joint Pains- These are more visible and characterized by loss of hair and arthritis.
5. Facial Features- When the child is affected by the condition, their head is found to be unusually big along with a narrow nose, protruding ears, and small jaw. They often need spectacles to see anything.
6. Voice- Their voice usually becomes high-pitched which may not be the case with other children.
The Benjamin Button disease though genetically caused, is not passed on from parents to children. How it occurs is still a mystery and the mutation appears to be sudden. There are equal chances that the siblings may or may not share the mutation called Progerin. Usually when suspected the children are subjected to the LMNA gene and a thorough physical examination of the body including weight and height, hearing and vision, and blood pressure.
Still keeping us on our toes, the Benjamin Button disease is untreatable but can be managed by some medicines like Lonafarnib. Approved by the Food and Drug Administration in the U.S., it delays the aging in the cells for some time. It can be administered to children as small as 1 year old. Looking closely at its effectiveness, the trials projected an increase in the patient’s life by 3 months on average.
With proper follow-up, patients are known to have their age extended up to 5 years. Many researchers also talk in detail about the side effects that consist of “The most common side effects are vomiting, diarrhea, infections, nausea, decreased appetite, fatigue, upper respiratory infection, abdominal pain, muscle and joint pain, and electrolyte abnormalities” as specified by FDA on their website.
7.7 million dollars has been allotted to various agencies and individuals to study the impact and formulate the medicine that can not only manage the symptoms but may even prevent the mutations as a whole. Thanks to rarity, other frequent diseases often take precedence which talks volumes about its lag. Now that the world is coming to terms with much rarer diseases frequently than others, the situation will evolve.
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