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Rare Disease Day 2017 Highlights Research and the Search for Cures

Today, February 28, is Rare Disease Day, with events taking place in over 90 countries around the world to raise awareness about rare diseases. The theme for #RareDiseaseDay 2017 is research, with the slogan: "With research, the possibilities are limitless."

Rare Disease Day provides opportunities for people with loved ones affected by rare diseases to share the importance of finding life-saving treatments for these often devastating childhood diseases.

This year's Rare Disease Day video features people searching for answers on the Internet, highlighting how disappointing it is when their efforts result in "your search had no results." It ends with the hope and promise that comes with unlocking cures through research into rare diseases, something that is a continuous struggle:

Government policy makers, industry, researchers, universities, students, NGOs, clinicians, consultants, and physicians all play a role in the following:

• Research & development

• Access to medicine

• The importance of diagnosis for early intervention

• Coordination of care, evaluating therapies and treatments

• Patient case studies

A "rare disease" is defined in the United States as a disease or disorder that affects fewer than 200,000 Americans at any given time. GM-1 Gangliosidosis, for instance, is a fatal, degenerative, lysosomal storage disease that affects up to one in 100,000 births.

GM-1 Gangliosidosis is an inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. Some researchers classify this condition into three major types based on the age at which signs and symptoms first appear. Although the three types differ in severity, their features can overlap significantly. Because of this overlap, other researchers believe that GM1 gangliosidosis represents a continuous disease spectrum instead of three distinct types.

Type I is the infantile form, with symptoms usually occurring by six months. It is the most severe form of the disease with those affected only reaching early childhood.

Type II is the late infantile and juvenile forms. These children have normal early development, but they begin to show signs and symptoms of the condition around the age of 18 months (late infantile form) or 5 years (juvenile form). Type II also causes a shortened life expectancy, with children with the late infantile form typically surviving into mid-childhood.

Individuals with GM1 Gangliosidosis type II experience developmental regression but usually do not have cherry-red spots, distinctive facial features, or enlarged organs. Type II usually progresses more slowly than type I, but still causes a shortened life expectancy. People with the late infantile form typically survive into mid-childhood, while those with the juvenile form often live into early adulthood.

Type III is known as the adult or chronic form of GM-1 Gangliosidosis and it represents the mildest end of the disease spectrum. The age at which symptoms first appear varies, but most affected individuals develop signs and symptoms in their teens. Life expectancy varies among people with adult onset GM1.