For many families like that of 13-month-old Zach Pickard finding a cure for Hutchinson-Gilford Progeria has become a race against time.
Hutchinson-Gilford Progeria is a rare disease that speeds up the aging process and usually begins when a child is 18-24 months old. Because they age at a rate of six to eight times faster than most children, those with Progeria typically die of heart disease at an average age of 13.
When he was 2 months old, Zach’s parents, Bill and Tina Pickard, noticed bumps on his skin, and began a 9-month journey to find a doctor who could explain his condition.
It was then that they met Dr. Ann Lucky, a pediatric dermatologist in Cincinnati who had never diagnosed the rare disease before, but was able to notice the correlation of Zach’s symptoms to those of Progeria.
Six weeks later, Zach was diagnosed with the disease.
“At first we didn’t believe this was possible because of the rarity of the syndrome,” Tina Pickard said. “But I knew by the end of the day, after looking at information on the Internet, that this is what he had.”
In 2002, researchers discovered that a mutation in the gene called LMNA, which makes the Lamin A protein is the cause of Progeria. The altered protein makes the nuclear envelope unstable and progressively damages the nucleus, making cells more likely to die prematurely.
Hutchinson-Gilford Progeria is an extremely rare disorder only reported in 1 in 4 million newborns worldwide. People with progeria usually develop specific facial appearances including prominent eyes, thin nose and lips, a small chin and protruding ears.
Additionally, the syndrome causes hair loss, aged skin, and a loss of fat under the skin, while development of motor skills is not affected.
The severe hardening of the arteries in childhood adds to the risk of young heart attack or stroke in those with progeria.
As for now, Zach is like any other baby. He is too young to be showing many physical traits of the syndrome.
“He yaks with strangers when we’re in restaurants and he draws people to him,” Tina Pickard said. “If you meet him you love him.”
The Pickards are trying to collect money and raise awareness of the extremely rare disease.
“Honestly, at the end of the day we have to be able to look at ourselves in the mirror and say that we’ve made a difference,” Tina Pickard said. “We want to educate people and create awareness within the community that this foundation needs money.”
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Photo Caption: Hutchinson-Gilford Progeria Syndrome. HGPS is a childhood disorder caused by mutations in one of the major architectural proteins of the cell nucleus. In HGPS patients the cell nucleus has dramatically aberrant morphology (bottom, right) rather than the uniform shape typically found in healthy individuals (top, right). Source: The Cell Nucleus and Aging: Tantalizing Clues and Hopeful Promises. Scaffidi P, Gordon L, Misteli T. PLoS Biology Vol. 3/11/2005, e395
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On the Net:
Genetics Home Reference – Hutchinson-Gilford progeria syndrome
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