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February 28 is Rare Disease Day 2018

February 28 is Rare Disease Day 2018

Rare Disease Day 2018

Did you know multiple system atrophy (MSA) is one of approximately 7,000 known rare diseases? Additionally, about 80% of MSA patients have a secondary rare disease, neurogenic orthostatic hypotension (nOH), which is low blood pressure upon standing. While only 13,000 Americans or so have been diagnosed with MSA at any given time, 30 million Americans or 10% of the U.S. population suffer from these often misdiagnosed and often poorly understood conditions. Of course, the numbers are much bigger when the entire world is included.

According to the National Organization for Rare Disorders (NORD), “People with rare diseases have tremendous unmet needs, including misdiagnosis, a long time to finally receive a correct diagnosis, and when they do, 95% have no treatment with ZERO CURES.”

Does NORD’s statement ring true for your process of being diagnosed with MSA?

We often hear that it takes as many as 4-5 years for those with MSA to be accurately diagnosed. Often, a diagnosis of Parkinson’s disease is first made, but it progresses much faster than PD and prescribed treatments are less effective.

Were you first diagnosed with PD?

How long did your MSA diagnosis take from first symptoms?

If you are frustrated with how long your diagnosis took or a lack of treatments and a cure for MSA, then Rare Disease Day is for you. Rare Disease Day offers the opportunity for all those affected to band together, millions strong, to raise awareness. On this day, the MSA community with thousands of affected families can amplify our voices and make a difference. Whether it’s explaining to your network what it is like to suffer from a little-known disorder or writing to your representatives in Congress asking for more research, you can make a difference. Together. with the other 7,000 rare diseases, the noise will make a difference. But… you need to participate!

What will you do on Rare Disease Day today to help raise awareness for MSA, nOH, and rare disorders as a whole?

“Rare Disease Day® takes place on the last day of February each year. The main objective is to raise awareness with the general public and decision-makers about rare diseases and their impact on patients’ lives.” As a person with or affected by multiple system atrophy, it is critical that your voice be heard. So, whether you are a patient or have a loved one with MSA, it is time to speak up. Share your story on your Facebook page and be sure to tag both the MSA Coalition and NORD. We also encourage you to visit NORD’s Rare Disease Day website and to use their various tools to raise awareness for MSA and all rare diseases.

Awareness tip: When advocating, don’t just say MSA, instead say or spell out multiple system atrophy.

Rare Disease Day 2018: The Importance of Funding and Research

Rare Disease Day 2018: The Importance of Funding and Research

Rare diseases are a daily battle for some 30 million Americans. One in 10 people in the country are fighting an illness that is shrouded in mystery. The only way to alleviate the unknown – and the burden felt by patients- is through increased research.

Patients with rare diseases have tremendous unmet needs, including but not limited to misdiagnosis. It is common for patients to wait years for an accurate diagnosis, roughly 4.8 years. Unfortunately, even after receiving an accurate diagnosis, 95 percent of rare diseases have no treatment options or cures. The purpose of Rare Disease Day is to increase awareness within the general public, and decision makers, to improve options for those suffering.

Rare Disease Day is celebrated in February each year. The month, rare for it’s odd number of days, is the perfect time to highlight the roughly 7,000 rare diseases. Rare diseases, like multiple system atrophy and mesothelioma cancer, affect only a limited number of people which often leads to less funding allocation. Diseases that impact a greater portion of the general public are more likely to receive funding because there is a greater profit margin.

Limited funds impact the medications, treatment options, and clinical trials available to patients. The prevalence of a disease should not dictate the level of care a patient receives or how greatly the out of pocket costs are felt.

According to a survey conducted by the Rare Disease Impact Report of both the United States and United Kingdom payers – those who finance healthcare within a country’s health system – treatment for a rare disease is relatively more expensive and costs are rising quickly compared to more common diseases. For example, the estimated annual cost for a patient with Hemophilia, a rare blood disorder, is $131,111. Over a lifetime that equates to 8.7 million dollars.

Funding allocation is complicated for rare diseases due to segmentation – each rare disease is unique and requires specialized attention. Eighty percent of rare diseases have identified genetic origins, others are the result of infections, allergies and environmental causes, or are degenerative and proliferative.

The key to advancements for all the Americans suffering from a rare disease is collaboration between researchers and the ability to have cross over medication and treatments. Keytruda, a drug originally used for advanced stage melanoma, is a an example of what is possible if funding is dedicated to enabling necessary research. The medication has been proven a viable treatment for pleural mesothelioma. Keytruda was an effective therapy in approximately 76 percent of the treated pleural mesothelioma patients, which represents a promising result and an improvement in prognosis. Among the 25 patients who received Keytruda, 28 percent had some shrinkage of tumors, while 48 percent of the treated patients experienced stable disease or no increase in extent of tumors.

A similar outcome for multiple system atrophy would be life changing for the about 14,000 people living with MSA in the U.S. There is currently no specific course of treatment for those with MSA – patients are often treated with medication created for Parkinson’s disease. Unfortunately that medication is not very effective – in many cases there is no response.

It is hoped that through the use of the orphan drugs a more specific treatment approach can be achieved. In 2016 there was $450 billion in drug spending – 60 percent of that was non-orphan traditional drugs, one third on non-orphan specialty medication and only 7.9 percent of the spending was on approved orphan drugs.

As scientific advancements are continually achieved it is expected that the number of recognized rare diseases will grow – as the number of diseases increases so does the necessity of precision medicine through the use of orphan drugs.

In an effort to raise funds and awareness the National Organization of Rare Disorders (NORD) is hosting a 7,000 mile rare movement. The campaign challenges advocates to join together and seek pledges to walk, run, or bike 7,000 miles collectively throughout the month of February. For those with multiple system atrophy and patients with all types of rare diseases research funding cannot come soon enough. On February 28 #ShowYourRare to show you care!