Posts Tagged ‘progeria’

Rare Disease Day is February 28th. What makes a disorder rare?

Monday, February 27th, 2017

rare-disease-dayAny disease, disorder, illness or condition affecting fewer than 200,000 people in the U.S. is considered rare. The National Organization for Rare Disorders (NORD) says there are about 7,000 rare diseases and disorders which affect roughly 30 million Americans. That’s 1 in 10 people, and more than half of them are children.

Why is rare disease awareness so important?

It is often very hard to diagnose a rare disease and it can take a long time for a correct diagnosis to be made.

Then, even if someone receives a diagnosis, 95% of the conditions have no treatment or cure (which means that only 5% of affected people have a treatment option). As a result, many infants or children die from rare disorders.

Individuals living with a rare disease move through life without getting answers to their most basic questions.

Here are a few examples of rare diseases:

Agenesis of Corpus Callosum (ACC)

This rare disorder is present at birth. The corpus callosum, which connects the left and right sides of the brain, is partially or completely absent. The cause of this condition is usually not known but it can be inherited. Symptoms include delays in reaching developmental milestones, seizures, feeding problems and impairment of mental and social development. Treatment is based on supporting an individual’s symptoms, such as therapies that focus on left/right coordination. Early diagnosis and interventions offer the best chances of improvement.

Klippel-Feil syndrome (KFS)

KFS is a skeletal disorder with an abnormal union of two or more bones in the spinal column within the neck. This can cause some affected individuals to have an abnormally short neck with restricted movement. KFS seems to occur randomly for unknown reasons, although in some cases it may be inherited. Treatment is based on an individual’s specific symptoms, and may include surgery and physical therapy.

Progeria, or Hutchinson-Gilford progeria syndrome (HGPS)

According to NORD, progeria is a fatal, genetic condition of childhood that resembles premature aging. In most cases, it is not passed down in families. The gene change that causes the condition is almost always a chance occurrence that is extremely rare. “In 2012, the results of the first-ever clinical drug trial for children with progeria revealed that Lonafarnib, a type of farnesyltransferase inhibitor (FTI) originally developed to treat cancer, was shown to be effective for progeria. Other than Lonafarnib, which is not FDA-approved and thus only available through clinical drug trials, the treatment of HGPS is directed toward the specific symptoms that are apparent in each individual.”

Tay-Sachs

This condition is an inherited disease that affects a baby’s central nervous system (the brain and spinal cord). The central nervous system controls how the body works. There is no cure for Tay-Sachs, and a baby with Tay-Sachs usually dies by the time he is 4 years old. We have information about this disease on our website.

NORD provides information on many rare diseases.

#RareDiseaseDay

Rare Disease Day is always on the last day of February each year. This year it’s on February 28th and the focus is on research. The slogan is “With research, possibilities are limitless.” And it’s true, research can help discover treatments and in some cases cures. Research can give hope to people living their day-to-day lives in search of answers.

See rarediseaseday.us or NORD for more info.

Progeria – accelerated aging in children

Tuesday, January 14th, 2014

Much in the news of late, progeria is an extremely rare genetic condition with only 200-250 children worldwide living with it at any point in time. The following description is taken from the Progeria Research Foundation.

Hutchinson-Gilford Progeria Syndrome (“Progeria”, or “HGPS”) is a rare, fatal genetic condition characterized by an appearance of accelerated aging in children. Its name is derived from the Greek and means “prematurely old.” While there are different forms of Progeria*, the classic type is Hutchinson-Gilford Progeria Syndrome, which was named after the doctors who first described it in England; in 1886 by Dr. Jonathan Hutchinson and in 1897 by Dr. Hastings Gilford.

HGPS is caused by a mutation in the gene called LMNA (pronounced, lamin – a). The LMNA gene produces the Lamin A protein, which is the structural scaffolding that holds the nucleus of a cell together. Researchers now believe that the defective Lamin A protein makes the nucleus unstable. That cellular instability appears to lead to the process of premature aging in Progeria.

Although they are born looking healthy, children with Progeria begin to display many characteristics of accelerated aging at around 18-24 months of age. Progeria signs include growth failure, loss of body fat and hair, aged-looking skin, stiffness of joints, hip dislocation, generalized atherosclerosis, cardiovascular (heart) disease and stroke. The children have a remarkably similar appearance, despite differing ethnic backgrounds. Children with Progeria die of atherosclerosis (heart disease) at an average age of thirteen years.

The March of Dimes extends our most sincere condolences to our Senior Vice-President of Chapter Program Services, Scott Berns, and his family over the recent loss of their son Sam Berns to complications stemming from progeria.

To learn more about progeria, please visit the Progeria Research Foundation.