So what is a rare disease? The definition varies from place to place. In the US, it is defined as any disease affecting fewer than 200,000 Americans at a given time. There are around 6,000-8,000 rare diseases identified. Approximately 80% of rare diseases have identified genetic origins and roughly 50% of rare diseases touch children. Because they are so rare, diagnosis is often delayed and funding for medical research and new therapies is limited. This lack of awareness and resources makes living with rare disease especially challenging.
Some rare disorders are managed through medical nutrition therapy, and this is where we come in! We want to highlight some of the rare disorders we reach, as each condition, no matter how rare, is very important to us.
Our line of Neocate medical foods are for infants and children with food allergies, food allergy-related disorders, and gastrointestinal conditions. These elemental formulas are often used for the nutritional management of certain rare allergic or gastrointestinal diseases, including the following:
o Read Jake’s story!
o Read Kristin’s story!
Maple Syrup Urine Disease (MSUD)
Long Chain Fatty Acid Oxidation Disorders, including Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD)
Our ketogenic division also reaches many individuals living with rare disease. We make KetoCal, a family of medical foods for individuals following a ketogenic diet for the dietary management of intractable epilepsy. The ketogenic diet is often used by individuals with rare seizure disorders that are resistant to traditional treatment with antiepileptic medications. Some of the rare disorders we reach include:
o Read Katie’s story
o Read Carson’s story!
Myoclonic-Astatic Epilepsy (aka Doose Syndrome)
o Read Aaron’s story!
o Read Ciara’s story!
o Read Lucy’s story!
These are the conditions we most commonly hear about from patients, caregivers, and health care professionals, but we know there may be some missing. If we left one out, just let us know and we will add it.
We hope Rare Disease Day 2013 helps raise awareness for rare diseases. We encourage everyone to click on some of the links above and learn about the different rare disorders. Individually, each disorder is small but together, those affected by rare disease form a strong, united group that we are proud to be a part of.
For information on how to get involved, resources, and a listing of events, visit http://rarediseaseday.us (for those of you in the US) or www.raredisorders.ca (for those of you in Canada). Or visit the global site at http://www.rarediseaseday.org/.
-Your Friends at Nutricia North America