Hutchinson-Gilford progeria Syndrome, or simply progeria, was first identified by Dr. Jonathan Hutchinson in 1886 and by Dr. Hastings Gilford in 1897. Affecting approximately one in 20 million children worldwide, progeria is the premature aging of young children. Although the number of people with progeria is relatively small, the stories of people with this genetic disorder have touched millions of people worldwide.
Symptoms
Children with progeria are born looking like any other healthy baby. However, at around 10 to 24 months, they start showing signs of premature aging. Signs include:
- Severe growth retardation in infancy
- A widened face with small jaw or large head for face size
- Loss of eyebrows, eyelashes and hair
- Limited range of motion
- Skeletal abnormalities
- Thin and dry skin
- Loss of body fat
A child with progeria. The right shows the difference between a normal nucleus shape (top) and a nucleus of someone with progeria (bottom). (Image Source: The Cell Nucleus and Aging: Tantalizing Clues and Hopeful Promises)
While these children are affected by a physical disability, their intelligence is unaffected. Their mental growth is just like any other child.
Prognosis
Combined with the lack of a cure, people with progeria are genetically predisposed to premature heart disease. Children born with progeria die almost exclusively from heart disease at an average age of 14.
Cause
Progeria is caused by a mutation in a gene called LMNA, pronounced “lamina,” which produces lamin A protein that keeps nucleus cells in the correct shape. This abnormal LMNA gene creates a protein called progerin, making the nucleus unstable. This instability causes progeria.
A healthy nucleus vs. a mutant nucleus, as often seen in those with progeria. (Image Source: Dr. Susan Parkhurst)
Although the mutation is caused by chance, parents that had a child with progeria are more likely to have another child with progeria due to mosaicism. This is when one of the parents has the mutation for progeria in a very small quantity of their cells, therefore having an increased chance of passing on the mutation to their offspring.
Preventive Measures
Because the mutation forprogeria occurs randomly during the development of the sperm or egg, there are no preventive measures for the syndrome. However, prenatal testing is available to look for the LMNA mutation that causes progeria.
Treatments
Currently, there is one optimistic treatment for patients with progeria. Farnesyltransferase inhibitors (FTIs), originally developed to potentially treat cancer, drastically reversed the mutated nucleus structure in children with progeria. FTIs block the attachment of the farnesyl group to the lamin A protein, rendering progerin paralyzed. Trials for FTIs began in 2007 and in 2012, every child that was treated with FTIs experienced improvement in at least one area. In 2014, the trial showed that FTIs increased the lifespan of someone with progeria by at least 1.6 years, a 10 per cent increase from their original life span.
Cases Worldwide
(Image Source: SeattlePi)
In Canada, there are currently three people with progeria. However, due to the lack of past documentation, the exact number of cases in recent history is relatively unknown. Similarly, the current number of people in the United States with progeria is 18, but the total number of undocumented cases is unknown. Worldwide, there are 139 known cases of children with progeria as of September 2016, but an estimated 350 to 400 exist. These unknown children are most likely in remote areas where this genetic disease is unheard of.
Ethnic or Geographical Link
There is no ethnic or geographic link for children with progeria. They may seem as if they are from the same ethnic background due to very similar appearances. However, those are caused by their abnormal and unique physical characteristics, as patients are from different backgrounds and located all around the world as seen on the right. The abundance of cases reported in the United States, Europe and Southern Asia can be explained by better health care (potential of clinical trials and medical advancements) as well as information passing in those areas.
Current Research
The Progeria Research Foundation, the main and only source of effective research, is currently performing clinical drug trials to test for potential treatments, as well as continuing their research on farnesyltransferase inhibitors. As their funding comes predominantly from private donations, researchers are limited by the small amount of funding they receive.
Impact
The small number of people with progeria has influenced millions of people for better or for worse. A few years ago, Adalia Rose, a then six-year old girl with progeria was the centre of a discussion on exploitation. The debate went on to discuss whether people with disabilities should be on exposed to the world on social media, and if asking for likes on Facebook was an appropriate way to fundraise money. This debate was so heated that Adalia Rose’s face was transformed into a meme and widely used as one. In the end, the entire commotion resulted in heightened awareness for those with progeria. Now, Adalia is a happy nine year old who has more than 700,000 subscribers on YouTube and almost 15 million followers on Facebook.
