Today, February 28th, 2021 marks Rare Disease Day across the world, with events taking place in over 100 countries. Rare diseases are a major part of modern healthcare as they can often be chronic, debilitating or in some cases, even fatal. Rare Disease Day is held on the last day of February every year. The day was founded by EURODIS, the European Organization for Rare Diseases. Why the last day of February? Rare Disease Day was founded on February 29th, 2008; a rare day that only comes every four years. It is annually celebrated on the last day of February.1 The goal for Rare Disease Day is to “to achieve equitable access to diagnosis, treatment, health and social care and social opportunity for people affected by a rare disease.”2 Not only does Rare Disease Day aim to raise awareness amongst the public, but it also is aimed at reaching big decision makers. This includes government officials, industry executives and other leaders in biotechnology and healthcare.1
Solace Nutrition would like to recognize Rare Disease Day by going over the fundamentals of rare diseases, and why awareness of these diseases is important.
The basics of rare diseases
Although there is no one single definition for rare disease, the National Institute of Health (NIH) currently defines it as, “a disease that affects less than 200,000 people per year in the US.”3 So, while the disease on it’s own may be rare, having one is not as rare. Here are some facts reported by the NIH:
- There are an estimated 7,000 identified rare diseases. There are only 500 approved treatments for those 7,000 diseases.3
- Rare diseases currently affect 3.5% – 5.9% of the worldwide population. That is an estimated 300 million people.2
- About 72 percent of these diseases are genetic in origin.2
- Rare diseases can be chronic or short-term.
Some of the more common rare diseases include those you may have heard of: multiple sclerosis, narcolepsy, cystic fibrosis and urea cycle disorders. There are many however that you probably haven’t heard of – doctors even have a hard time of keeping track of all of them!
Receiving a diagnosis
Traditional methods of diagnosing a rare disease include blood tests, x-rays and MRI’s. Ultimately, every disease requires unique diagnosing methods. For example, cystic fibrosis is diagnosed with a sweat chloride test.4 Some diseases are not as straightforward. Multiple Sclerosis, for example, has no formal diagnosing process.
Dealing with symptoms is a challenging task by itself, but in many cases, doctors and other healthcare professionals aren’t always able to accurately diagnose a patient quickly. It can take years before a diagnosis is given. Even when a diagnosis is made, it is not always accurate. This can be tough and diseases certainly do not — while waiting for a treatment. It may seem careless, but trial and error is a reality in the process of searching for a treatment. Figuring out what works and what doesn’t, and at what dose, takes time and experimentation.
With that, the first step in diagnosis does not start with tests and visiting with specialists. The first step in getting to a diagnosis is the patient taking the initiative to reach out to their doctor. With situations like health concerns, it is easy to procrastinate out of fear of costs and other negative ordeals. Many might tell themselves, “It will go away eventually” or they blame it on other things going on in their life. This is troubling because for many rare diseases, addressing the symptoms earlier is key in getting an accurate diagnosis. For diseases that show up later in life, some may go years without knowing they have a rare disease!
A unique challenge
Not only do rare diseases pose a physical health challenge, they often introduce mental health challenges. It can be a terribly isolating experience for many. Those mental health issues can also extend beyond the patient. If the disease requires assistance from family members, this can add additional stress to the situation. Another aspect to consider is the price tag that comes with having a rare disease. Between treatment, therapies, operations and doctor’s visits, it is safe to say that those with a rare disease are often met with unique challenges.
Although rare disease may not affect you directly, there is a good chance someone close to you has been diagnosed or is currently diagnosed with a rare disease. At Solace Nutrition, we acknowledge Rare Disease Day in support of all those who deal with a rare disease on a daily basis, and to those working to develop treatments to improve the quality of life of millions of individuals across the world. This is in line with our longstanding commitment to providing our patients with high-quality medical foods. Medical foods are not drugs or dietary supplements – they are formulas that contain specific ingredients designed to assist in the dietary management of diseases and conditions. They can come in pill, powder or even liquid form. Although they are to be used under medical supervision, a prescription is not required to obtain them. The medical foods manufactured by Solace Nutrition are geared toward a variety of conditions and disorders, including Inborn Errors of Metabolism, Mitochondrial Cytopathies/Disorders, and more.
Overall, Rare Disease Day is a unique opportunity for those who care about the state of rare diseases and the future of treatments or cures. For more information, visit www.rarediseaseday.com.
References
- Rare disease Day 2021 – 28 Feb – article. (n.d.). Retrieved February 26, 2021, from https://www.rarediseaseday.org/article/what-is-rare-disease-day
- Rare disease Day 2021 – 28 Feb – article. (n.d.). Retrieved February 26, 2021, from https://www.rarediseaseday.org/article/what-is-a-rare-disease
- Rare diseases. (2020, February 11). Retrieved February 26, 2021, from https://www.nih.gov/about-nih/what-we-do/nih-turning-discovery-into-health/rare-diseases
- Sweat test. (n.d.). Retrieved February 26, 2021, from https://www.cff.org/What-is-CF/Testing/Sweat-Test/