To kick off the beginning of World Rare Disease Month, I thought I would start with explaining what Global Genes is, and point out some of the shocking statistics of rare diseases. is a non-profit, leading rare disease advocacy organization. They have a mission of spreading awareness, education, and research all while giving patients the opportunity to become activists for their own rare diseases! Did you know RARE isn't so rare after all? Rare diseases affect 30 million Americans (1 in 10 Americans) and over 350 million people worldwide. There are 7,000 types of rare diseases known and 80% of these illnesses are genetic. 50% of the people who have these rare diseases are children, making rare diseases one of the most deadliest and most debilitating for children everywhere. Global Genes Happy World R are Disease Day 2015! Even though each specific rare disease has a very small patient size, together the RARE community is greater than all cancers and AIDS combined.
Now, on to what I think is most shocking-
Despite how large of a community the entire RARE population is, only 15% of rare diseases have an organization or a foundation providing awareness, research, and support for their patients. 95% of all rare diseases DO NOT have a single FDA approved treatment. There are only less than 400 treatments approved by the FDA for over 7,000 rare diseases. Now remember, there are only 7,000 rare diseases known. Imagine how many are out there, undiagnosed, unknown. According to the NIH (National Institutes of Health), at the current rate of FDA approved treatments, it will take 10,000 years to find approved treatments for everyone suffering from a rare disease.
What if this was you? What if this was your chil d, a loved one? Would these statistics be okay with you?
World Rare Disease Month Challenge Day #1:
Introduce your rare diseases, what they are, and how long you've had them.
I have several RARE diseases, but this month, I'm going to focus on 4 of them.
The first rare disease I have is Mitochondrial Disease (Mito). Mito is a dysfunction in the mitochondria. Mitochondria is inside almost every cell inside your body (minus the red blood cells) and is the "powerhouse" or responsible for 90% of the energy your body needs to stay alive. When there is dysfunction in the mitochondria, Mito happens. When less and less energy is generated, cell injury and cell death can follow. If this happens throughout the entire body, organ systems begin to fail. This disease can appear as almost any disease, in any organ, at any time. Making it extremely hard to diagnose for. It is suspected that some issues started when I was first born, but the full onset came in 2010.
The second rare disease is Hyperimmunoglobulin E Syndrome. Hyper IgE is a rare primary immunodeficiency disease. Some of the most common symptoms are eczema, skin abscesses, chronic lung infections, eosinophilia and high levels of IgE. There are many other issues that stem from Hyper IgE as well. There are connections to illnesses with the skeletal and connective tissues, lungs, skin, eyes, teeth, and many other clinical findings that come from Hyper IgE. A normal IgE level can be 250 and lower. My levels were 16,800 when first checked for this disease, making myself the second patient my Immunologist had ever seen with such shockingly high levels. It is suspected a mild form of this disease started when I was around 2 years old, but the diagnosis came in 2011.
The third rare disease is Allergic Broncho-Pulmonary Aspergillosis (ABPA). This disease is an allergic reaction inside the lungs to a fungus called Aspergillus. This fungus is found everywhere, inside and out. It is even found in water and the air, making it impossible to avoid. This specific fungus that I am allergic to, is growing inside of my lungs. This causes damage to the airways and inside the lungs. Since this disease is a hypersensitivity of the immune system, if the immune system is impaired, there can be Aspergillus infections, which is different from ABPA. Both are more common in patients with Cystic Fibrosis. I was diagnosed with this disease by surgery in 2011.
Lastly (for now), I have another rare disease called Hypoadrenalism (or Adrenal Insufficiency). This is a disease where my adrenal glands have shut down, not producing enough cortisol and ACTH. Adrenal Insufficiency is mainly controlled by supplementing what your body is not making enough of, for example, cortisol. However, in cases such as infections, surgeries, injuries, or even something as simple as too much stress, can send my body into a "crisis." When this happens, your body is in an extremely high risk for shock and eventually could lead to death if not treated quickly. This disease was also diagnosed in 2011.