After her son was diagnosed with SYNGAP1 – an extremely rare gene mutation – Monica founded Bridge the Gap – SYNGAP Education and Research Foundation to support families of those suffering from the illness and to accelerate the path to better therapies. Here Monica discusses the incredibly low rate of treatment options for patients suffering from a rare disease and breaks down the common myths around getting to treatments. 


The issue remains that due to the lack of patient numbers it is difficult to get drug companies to invest in creating drugs for rare diseases.

Rare diseases affect a large population worldwide. In fact, more than 30 million Americans have a rare disease. There are over 7000+ rare diseases and new ones are found every year.  Eighty percent of rare diseases are caused by a genetic mutation or defect. The majority affect children and have no cure. It takes an average of seven doctor visits to get an accurate diagnosis of a rare disease.1

The question still lingers as to why in the last 35 plus years rare diseases are remaining at a 5% mark for treatments.  Many reasons are underlying so how do we prioritize eliminating the challenges before us? In order to get the needle to move, we need to measure the activities that the rare disease community are trying to accomplish.


Several Myths about Getting to Rare Disease Treatments


Myth #1:  Throwing Money at Research Will get us to Treatments Faster

If you look back in history, Muscular Dystrophy was one of the longest running campaigns for a rare disease treatment. Muscular Dystrophy is a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement.2

Many of us as children in the 1980’s used to watch the Jerry Lewis Telethon, where they raised over 2 Billion dollars and supported 45 years of research.  However, they are still yet to find a treatment. My intent is not to be negative or to discourage, but to understand the reality of the actual time it takes to follow disease progression and mechanisms.  It is a noteworthy cause, but understanding this before starting will help advocacy communities do better in organizing ways to improve getting there.

Some advocacy organizations do not understand the landscape of rare disease in general. This is to be expected if you or a loved one has just been thrown into the world of rare diseases. The lack of the basic understanding of how rare disease research and drug development work can be a huge factor in why progress is hindered.  This lack of knowledge causes a severe deficiency in strategic planning. 

Many organizations begin with the intent they will merely go out, apply for nonprofit status and fundraise to throw money at research, thinking that this will speed up the process of getting to treatments.  Not so! Fundraising is only a small portion of getting to treatments. Yes, money helps, yet spending money strategically will benefit eliminating the challenges ahead. When you have uneducated people who do not understand the landscape, the chances of failing are high and can cost you YEARS in progress! There is a right way, and there is a WRONG way to approach getting to treatments. Understanding the nature of the disease and research is the first step.


Myth #2:  We have Modern Medicine and Technology  

There is no doubt that modern medicine has improved the quality of life and extended life for many, but we still have a long way to go.

In rare disease, there are those unique challenges that we still have to overcome. When asking a group of rare disease leaders their opinions on why the needle hasn’t moved their views were not off target. Many reported that regardless of the time they live, we still lack the necessary resources to speed up the process.  There is a need for researchers in relatively new medical fields that focus on rare disease. Right now there are just not enough.

Another noted fact is due to a lack of diagnosis rates, which result in low numbers and scattered patient populations. Money raised by nonprofit organizations, in reality, is a drop in the ocean for being able to drive the research needed to get to treatments.  The lack of funding for basic science research to understand the mechanisms of how disease even works is still required.

It takes approximately 40 million dollars to develop one drug, and that’s if it completes a successful clinical trial. Forbes reported in 2012 that the average drug developed by a major pharmaceutical company costs at least $4 billion, and it can be as much as $11 billion. These numbers, however, pertain to more commons diseases, NOT a rare disease. An analysis conducted at Forbes in 2013 found that a company hoping to get a single drug to market can expect to have spent $350 million before the medicine is available for sale. In part, because so many drugs fail, large pharmaceutical companies that are working on dozens of drug projects at once spend $5 billion per new medicine.

More specifically these issues can be minimized by organizations having an effective patient engagement strategy and a program that explains why patient participation is critical in research.  In response to this, it will reduce the difficulty in finding patients for trials, improving the quality trial design, and having meaningful endpoints and reducing exclusion criteria for trials.  Eliminating this challenge depends on patient population cohesiveness.


In theory we are all connected in some form or fashion at the genetic or molecular level when it comes to disease. No genes act alone, therefore if one drug could help one disease then why not use that same drug for another indication.


Myth #3: Our Organization Can’t Advocate for Policy Changes


In 2016 npEngage reported that “only when lobbying activities become “substantial” does a possibility arise where your nonprofit status can be revoked.  This means that nonprofits are permitted to lobby on a “limited basis,” which equates to “20 percent of the first $500,000 of exempt purpose expenditures up to a cap of $1 million on total lobbying expenditures. Where this “fine line” is drawn often depends on the “federal administration in office”. Essentially, this means that as long as you are not exceeding that 20 percent up to $1 million, it is fair game to engage in advocacy as a nonprofit organization.” Under nonprofit advocacy/lobby rules, organizations can participate in certain activities that can provide the needed push to change policy.  

Advocacy is critical to getting to treatments.  There are so many diseases and not enough people and companies willing to invest resources. We have heard things like “it’s not a serious illness,” or “there’s no money to be made in developing a treatment” — a common sentiment expressed in the rare community. However, it is one that can be overcome by the simple measures of understanding how policy affects drug development.  No one will argue that in every circle of every business there is corporate greed. Policy changes can incorporate oversight and accountability to eliminate some of the “fleecing” of drugs overall.

Understanding the system is a complicated process, but not impossible. The US insurance and payer model discourages innovation and therapies affecting small disease populations.  Pricing of drugs is not the sole issue. While 95% of all rare disease lack treatments, it is still critical for organizations to involve themselves in the policy process change.  The reason is simple. Eventually, your hard work may pay off, and your disease will get to treatment. Making the drug you are after is only half the battle and gaining access to it is another.

Access defines how quickly a member/patient can get a drug.  The majority of drug prices are set for more common diseases, like Augmentin for strep throat. It is based on supply and demand. The higher the demand, the higher the price. Low patient numbers create an issue with the current “formula” on how drugs are figured for reimbursement. Pricing formulas determine how much each entity handling the drug will get paid, for example, the hospital who houses it, your co-pay cost and what your insurance company will receive. Changes in recommended executive policies also is an area that needs addressing.

The issue remains that due to the lack of patient numbers it is difficult to get drug companies to invest in creating drugs for rare diseases.  It’s a huge gamble for them. All rare disease organizations in the United States should see it as a priority to help facilitate this change at the federal level.  A more basic principle as to why is that in theory we are all connected in some form or fashion at the genetic or molecular level when it comes to disease. No genes act alone, therefore if one drug could help one disease then why not use that same drug for another indication.

Organizations can get on board to help support initiatives that will encourage companies to invest in rare disease drug development.  Two of the most common pieces of legislation circulated currently on Capitol Hill are the Open Act and the Precision Drug Initiative. These are both pieces of legislation that can be used to help move the needle forward increasing the percentage of treatments for rare diseases.  It is up to us to educate Congress on the importance of these issues to get bills passed into law.

Another avenue that organizations can get behind is challenging states to increase newborn screening for rare diseases. Newborn screening gives the ability to improve early diagnosis and create more significant numbers in patient populations.

Agreed, it takes time to understand the system and to navigate all the necessary steps to get there. Even with limited resources, the choice to do it is critical when fighting to move the needle and get the needed treatments we all desperately want in the rare disease space.  

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