Posts Tagged ‘rare diseases’

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.

How to find a specialist for a birth defect or rare disease

Wednesday, March 23rd, 2016

Contemplative woman with babyWe often receive inquiries from individuals asking for help finding information and resources for their child’s particular birth defect or medical condition. If a baby or child has a rare disease, the family may have an especially difficult time finding a specialist who is experienced with the disorder.

Here are some organizations that offer resources:

  • The Genetic and Rare Disease Information Center  – “GARD” provides links on how to find a disease specialist, a treatment center, a genetics clinic, researchers, and finally how to navigate the process of trying to get your child diagnosed.
  • The National Organization for Rare Disorders  – “NORD” maintains a database of diseases and provides detailed disease explanations and support group resources to patients and families.
  • Disease Infosearch (part of Genetic Alliance) – They provide disease information as well as support group resources.
  • The NIH Undiagnosed Diseases Program – This is an invitation-only program for patients whose conditions “have eluded medical diagnoses.”

With any condition, finding the appropriate health care provider may make all the difference in the world. We suggest that families speak with their child’s health care provider and specialist so that together, they can establish the best course of treatment for their child.

Have questions? Send them to AskUs@marchofdimes.org.

 

The impact of rare diseases

Monday, February 29th, 2016

rare-disease-dayIn the U.S., any disease affecting fewer than 200,000 people is considered rare. Today, the last day of February is Rare Disease Day, an international advocacy day to spread awareness of rare diseases and their impact on patients’ lives.

There are nearly 7,000 rare diseases affecting 25 million Americans and 400 million people worldwide. At least 50% of these rare diseases affect children. Rare diseases include many birth defects, genetic disorders and chromosomal abnormalities.

A patient with a rare disease may face severe health outcomes including physical and intellectual disabilities and premature death. Often the lack of scientific knowledge and information on a rare disease can result in a delay in diagnosis. In addition, a rare disease not only affects the individual; it affects an entire family.

Rare Disease Day aims to raise awareness not only to the public, but amongst policy makers, public authorities, researchers and health professionals.  Many advancements in national plans and policies related to rare diseases has been attributed to the awareness that this day has cultivated. There is still much to do, but progress is being made every day toward the development of knowledge, research and treatment advances for rare disease patients.

Do you or someone you know have a rare disease? Feel free to share your story with us.