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Rare Disease Day: How Fundraising Can Lead to Breakthrough Research

In Clinical ResearchGuest BloggerPharmaSociety |

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On February 27, 2019

According to Global Genes, there are over 7,000 classified rare diseases that impact millions of lives worldwide. To recognize those who suffer from a rare disease, February 28th is an annual reminder that highlights the orphan diseases that people battle with everyday. Many of these diseases are immensely underfunded, but this day has served as a push for more research to be conducted in hopes that more cures will be discovered. However, while a day of recognition is certainly a great way to acknowledge those in need, there is more that can be done to continue the efforts of solving these diseases.

 

Through fundraising efforts and continuation of discourse of certain rare diseases, only then will advancements be made in treatment options. It is up to us to create an environment where those who are dealing with a complex abnormality are not doing so in silence.

 

What is a Rare Disease?

Rare diseases are classified differently depending on what country you reside in, but in the United States it is deemed rare if it affects fewer than 200,000 people at any given time. Perhaps the most staggering statistics revolving around rare diseases is that 80% are genetic in nature, and 50% of rare diseases affect children.

 

Often times, rare diseases mimic more common illnesses, which unfortunately can prolong the diagnosis process and make it difficult for doctors to make a conclusive decision as to what the patient may be suffering from. The ability to diagnose a patient with a rare disease also stems from the fact that there may be a lack of data and knowledge revolving around the rare disease, limiting the resources available to doctors in order to make a concise diagnosis.

 

Examples of Rare Diseases

Cystic fibrosis (CF) is an example of a rare disease that has a genetic origin. With only around 1,000 new cases being diagnosed every year, it meets the criteria for rare disease classification. This disease progresses over time, and is known for causing consistent and extended infections to the lungs, creating severe difficulty for the patient to breathe. For those suffering with CF, they must avoid contact with germs, as the mucus that clogs the airways will trap these germs and lead to infections and inflammation to occur.

 

Diagnosing a patient with CF is a complex process, as understanding the genes of the patient’s parents are likely to lead to a diagnosis. Those diagnosed with CF have inherited two defective CF genes, one from each parent. Each parent may not suffer from CF due to only having one CF defective gene, however, with each parent passing along a defective CF gene, there is a 25% chance that the child will be diagnosed with CF.

 

An example of a non-genetic rare disease would be mesothelioma cancer. The only known cause of mesothelioma is through exposure to asbestos, a deadly carcinogen often found in the building materials of older homes. Mesothelioma primarily affects the lining of the lungs, heart, and abdomen and due to its latency period, may lead to a diagnosis anywhere from 10 to 50 years after being exposed to asbestos. Due to it taking a prolonged period of time for this cancer to develop, doctors believe diagnoses will remain steady, as many people will not know if they have this cancer until a later stage of life. With this cancer progressing rapidly once diagnosed, the treatment options are often limited, especially when the cancer is in a later-stage or has metastasized. There are around 3,000 new mesothelioma diagnoses in the U.S. every year, and doctors are finding it very difficult to treat this disease effectively.

 

The Importance of Fundraising

For those suffering from rare diseases of all types, fundraising and awareness are the best possible outcomes in order to possibly find a cure. With treatment options being exploratory and scarce, patients may be left with astronomical out of pocket costs that can put them in a substantial amount of debt. Rare diseases often have advocacy groups that can be used as a support network and aid in helping a patient out financially with costs that are not covered by insurance. Also, many patients and families are fundraising on their own terms for their specific disease as to help support their treatment and provide funding to continued research.

 

Raising awareness can help provide serious funding for rare diseases, which in turn can lead to some very important treatment research to be conducted. In 2014, the Ice Bucket Challenge helped raise money in honor of those suffering from Amyotrophic Lateral Sclerosis (ALS), totaling over 115 million dollars in donations and leading to the discovery of a new gene associated with ALS. This funding also helped with patient care and educating the public about this rare disease.

 

As you can see, fundraising is an important factor in raising not only awareness, but allowing for more to be done beyond general recognition.

 

Get Involved

February 28th is not the only day you can advocate for those dealing with rare diseases. There are plenty of opportunities to raise awareness as well as funds throughout the year that you can be a part of. Check out the #ShowYourRare campaign on social media platforms as another way of spreading awareness about rare diseases. Together, we can ensure that each and every rare disease patient has an equal chance of a happy and healthy life.

Last modified: February 27, 2019

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