News Moms Need

In the United States, any disease, disorder, illness or condition that affects less than 200,000 is considered a rare disease. Health conditions such as Tay-Sachs, ocular toxoplasmosis, fragile X syndrome, and ALS (Amyotrophic lateral sclerosis) are just a few examples. However, the National Organization for Rare Diseases (NORD) says that there are more than 7,000 rare conditions that affect about 30 million people in the United States. It is estimated that 1 in 10 people have a rare disease in the U.S. — more than half of them are children.

People who have a rare disease have many different needs, but since it can be difficult to make a correct diagnosis, getting the right treatment can be difficult. Rare diseases affect the lives of people in many ways, not only because they are sick, but because they do not know much about the disease, the diagnosis, the treatment or even what they can expect to happen with their health and quality of life over time.

Sadly, about 95% of rare diseases have no treatment and none of them have a cure. The truth is that the cause of the majority of these diseases is still unknown today, although some of them might be genetic. Knowing your family medical history and discussing it with your health care provider is always a good idea, especially if you plan on having a baby.

Today, February 28th, we help raise awareness on this important issue. Join us and NORD to raise awareness about rare diseases, the impact it has on the people affected by them, their families and the community. Visit rarediseases.org and rarediseaseday.us to learn more.

Any 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 28^th 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.