SciTech

Health Talk: Progeria

For most young people in the world, aging is not something they worry about. In fact, children cannot wait to grow older. For a handful of children, however, aging is a process that comes too quickly.
Progeria is a devastating disease that quickly destroys childhood fantasies of everlasting youth. Instead of aging at a normal rate, children with progeria age eight times as fast as a normal human being. Mentally, however, the child matures normally. The consequences are unsettling — a child who is only 10 physically resembles an 80-year-old adult. Progeria is a case of a young mind trapped in an old body. Unfortunately, as of now, a cure for this disease does not exist; while symptoms can be treated and surgery can relieve complications, those afflicted with this disease rarely live past 13.

As humans naturally become old, conditions that are commonly associated with the elderly develop: baldness, heart problems, joint stiffness, and even hip dislocations. These symptoms manifest themselves in children who have progeria. Often times, they will appear as early as the first year of life. In addition, the physical development of such children is drastically different from that of normal children: babies with progeria have aged skin and a smaller face and jaw relative to head size than babies without the disease.

The bodies of children with progeria are smaller and more fragile than those of other children, and their eyebrows and eyelashes fall out. Ultimately, cardiovascular complications in children with progeria cause a heart attack or stroke. While there have been cases of progeria patients living to 30 years, the lifespan of a normal patient is around 13 years. Progeria is an extremely rare disease, with fewer than 50 cases known worldwide. It is a genetic disease that is caused by just a single misplaced letter in the DNA code. The mutation in the LMNA gene results in the production of a faulty form of a protein called the Lamin A protein. This protein is responsible for holding the nuclei of the cells of the body together and defects in this protein cause the nuclei to become weaker. Studies have also shown that the mutation appears in human sperm before conception, and not during the development of the child. As of now, a satisfactory cure for the disease does not exist. Further research is being carried out in hopes that a cure will be found. Research is also being carried out in hopes of gaining more insight on normal human aging.

Even if there is no cure, there are ways to make life easier. Hayley Okines is an 11-year-old girl in the UK who suffers from progeria. Hayley’s story, reported in a number of news articles including some in BBC News, shows that living a nearly normal life is not impossible for such children. Like any normal child, she attends school and has a group of friends. Unlike any normal child, however, she must take a hydrotherapy session every week to delay the advent of arthritis. Children like Hayley must also take health supplements in the form of vitamins and drink mixes because their appetite is smaller than that of a normal child.

To prevent the breakdown of tissues, vitamin E can be taken to combat free radicals that destroy cells. Aspirin is another supplement that can be taken to prevent heart disease. Because facial development is different in progeria patients, the faces of such children are smaller and more irregular than normal, and their teeth suffer from wear. To prevent tooth decay, they can take fluoride to strengthen their tooth enamel. Studies in progeria will have long-lasting consequences. While the primary goal is finding a cure for the disease, progeria research may yield a greater understanding of the causes of aging. In addition, it could provide insight into cardiovascular disease. Since cardiovascular disease affects an increasing number of people, more research in this field could help millions around the world.