Celebrating Rare Disease Day and Our First Birthday

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This Rare Disease Day marks our first anniversary

Rare Disease Day is on the last day of February every year. Why then? Because it’s closest to the rarest day of all: Leap Day. The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives.

We specifically chose to launch MediFind on Rare Disease Day 2020 in honor of the 25-30 million Americans and 300 million people worldwide affected by rare diseases and in recognition that this community is dramatically underserved by the existing healthcare system.

Inspired by rare

Our founding story is rooted in rare disease. As our founder and CEO, Patrick Howie, says:

“When I heard that from my brother and best friend who was battling a terminal illness, I literally couldn’t breathe for a minute. I also knew that I had to come up with some ideas. While I am not a doctor, as the head of Global Analytics for one of the largest pharmaceutical companies in the world, I did have access to unparalleled analytic capabilities and an intricate understanding of the world of healthcare. I realized that I could use the unique capabilities of my team to help him by finding new experts immediately and new treatment options as soon as they are available. 

  When we tried our first analysis for my brother’s rare disease, I saw his four-year journey unfold before my eyes. And I realized how much time he had lost trying to find his way through the healthcare system. Despite regaining hope by finding a new option, my efforts were too late to help my brother. Five years and tens of thousands of hours later, however, they resulted in the founding of MediFind, a company that gives the 175 million people in the US (and over 1 billion worldwide) struggling with serious, rare and chronic diseases the one thing I couldn’t give me brother – more time.”

Helping 30,000 people facing rare diseases find better care, faster

Our mission is to help people facing complex health conditions find better care, faster. Perhaps no set of health conditions is more complex than rare diseases.

As Fast Company reports, “There are about 7,000 rare diseases that affect roughly 30 million Americans, but only 800 treatments for those diseases. It isn’t for lack of research. Rather, it’s because companies say it costs too much money for them to want to invest in making therapeutics that will only treat a small portion of the population. This phenomenon [is] known as the “valley of death.””

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On our one-year anniversary, we took a dive into our data to see how MediFind has helped. In the year since launch, nearly 30,000 people have found deep-dive rare disease information on MediFind, including top global doctors who specialize in their specific rare disease, as well as clinical trials and cutting-edge research.

10 most-searched rare diseases on MediFind

In the U.S., a rare disease is defined as a condition that affects fewer than 200,000 people. This definition was created by Congress in the Orphan Drug Act of 1983. The definition of a rare disease varies by country. For example, the E.U. defines a rare disease as one that affects no more than 1 person in 2,000.

10-most-searched-rare-diseases
  1. Hodgkin Lymphoma – one of the most common types of lymphatic cancer (cancer of the immune system).
  2. Multiple Myeloma – a rare cancer that occurs in bone marrow (soft tissue inside bones) in white blood cells called plasma cells that usually produce antibodies (immunoglobulins) which help the body to fight infection.
  3. Acute Lymphoblastic Leukemia (ALL) – a fast-growing cancer of a type of white blood cell called a lymphoblast.
  4. Granulomatosis with Polyangiitis (GPA) – a rare disorder in which blood vessels become inflamed. This leads to damage in major organs of the body.
  5. Glioblastoma – the most aggressive type of brain cancer. Glioblastoma develops from glial cells, which are specialized cells that surround and support neurons (nerve cells) in the brain.
  6. Meningioma – a tumor that originates in the meninges, the membranes that surround the brain and spinal cord.
  7. Amyotrophic Lateral Sclerosis (ALS, or Lou Gehrig disease) – a disease of the nerve cells in the brain, brain stem and spinal cord that control voluntary muscle movement.
  8. Cholangiocarcinoma (CCA) – a rare cancerous (malignant) growth in one of the ducts that carries bile from the liver to the small intestine.
  9. Mixed Connective Tissue Disease (MCTD) – a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis.
  10. Trigeminal Neuralgia – a nerve disorder that causes a stabbing or electric-shock-like pain in parts of the face.

10 most-searched ultra-rare diseases on MediFind

Ultra-rare diseases are those affecting fewer than 20 patients per million of population, per the European definition.

10-most-searched-ultra-rare-diseases
  1. Relapsing Polychondritis – characterized by recurrent swelling and inflammation of cartilage and other tissues throughout the body.
  2. Burkitt Lymphoma – a very fast growing form of non-Hodgkin lymphoma.
  3. Eosinophilic Granulomatosis with Polyangiitis (Churg Strauss syndrome) – a condition characterized by asthma, high levels of eosinophils (a type of white blood cell that helps fight infection), and inflammation of small to medium sized blood vessels (vasculitis).
  4. Giant Cell Arteritis (GCA) – a form of vasculitis, a group of disorders that cause inflammation of blood vessels. GCA most commonly affects the arteries of the head (especially the temporal arteries, located on each side of the head), but  arteries in other areas of the body can also become inflamed.
  5. Medulloblastoma – a type of brain tumor that occurs in the cerebellum.
  6. Thrombotic Thrombocytopenic Purpura – a rare disorder that causes blood clots (thrombi) to form in small blood vessels throughout the body.
  7. Myasthenia Gravis – a chronic autoimmune neuromuscular disorder that is characterized by fluctuating weakness of the voluntary muscle groups.
  8. Takayasu Arteritis – an inflammation of large arteries such as the aorta and its major branches.
  9. Huntington Disease – a genetic disorder in which nerve cells in certain parts of the brain waste away, or degenerate.
  10. Castleman Disease – a rare condition that is characterized by an abnormal growth of multiple cells in a single lymph node or multiple lymph nodes (depending on the type of disease), causing them to enlarge.

The future of rare disease

1 in 20 people will live with a rare disease at some point in their life. Despite this, there is no cure for the majority of rare diseases and many go undiagnosed. In fact, the average time from symptoms arising to correct diagnosis averages nearly 5 years.

At MediFind, we hope to dramatically reduce the amount of time and frustration patients and their families spend finding the right healthcare, so everyone has the best possible chances at the best health outcomes. We’re certainly not alone. In addition to long-standing organizations like NORD (in the U.S.), EURORDIS (in the E.U.), and Global Genes, new initiatives are gaining traction. HARPA aims to do for healthcare what DARPA did for defense, with a particular focus on rare diseases. And organizations like Medics 4 Rare Disease (M4RD) provide education in the rare disease field for medical students and doctors in training to speed up time to diagnosis.

Should you or a loved one be experiencing unexplained symptoms, consider exploring possible causes using our symptom checker. If you’ve already been diagnosed with a rare disease, you can also use recently-launched and best-in-class clinical trial finder to quickly match to relevant trials for you, and find experts and second opinions for your specific condition.

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