Blog 6: Public Policy for Rare Diseases

Hello everyone! For those of you just joining in, my name is Jonna Crocker. I am a high school senior who is making a series of blogs for my philosophy class, discussing the injustices for rare disease patients and what we can do to help. This is my sixth and last blog in this series, so make sure to read my other blog posts as well to learn more!!

Today, I will be discussing the public policies that are in place for rare diseases, and ways in which there could be a better system for the country as a whole. There is a great foundation out there, but places that are not following along in their footsteps will have a hard time advancing changes on a local and broader level. 

Rare diseases are a global public health issue, as they affect a large number of people throughout the country and the entire world. There are many organizations that touch on the policy issues for rare diseases, and highlight the current issues so that they can be addressed and changed. The largest organization that does this is NORD, the National Organization for Rare Disorders. As part of their mission, they are working to advocate for public policy issues including the lack of funding and research, providing better access to coverage, medication and diagnostics, COVID-19 impacts for rare disease patients, and advisory councils. 

One of the main things that I would like to focus on today is the idea of a Rare Disease Advisory Council, also known as an RDAC. Straight from NORD’s website, “RDACS act as an advisory body that gives the rare disease community a stronger voice in state government and makes recommendations as to how their state’s programs and policies should be modified to benefit the rare disease community”. The first-ever Rare Disease Advisory Council was created in North Carolina in 2015, and now there are 21 states that have established councils since. Members from all different aspects of the rare disease world serve as members on the council, including patients, health care providers, health insurers, researchers, and state government officials including your local senators. 

These councils are incredible and are bringing awareness and advocating for the rights that each patient should undoubtedly have. The problem is that this is not as widespread as it needs to be. Having 21 states be a part of this movement is amazing, but that means more than half of the country does not have this system in place. And for those that do, it has not been properly and fully implemented because it is relatively new. The laws passed through the council can be life-changing, and by asking for direct feedback from those who see rare diseases every day, the core of the problem is exposed and differences are made. 

In my previous posts, I touched on the lack of research due to limited income and funding, the access to coverage and insurance problems, and the lack of medications available. The other thing that has been trending in the public advocacy for rare disease patients is the effect of COVID-19. MANY rare disease patients are immunocompromised, and if they were to get sick with COVID-19 it would be detrimental and extremely damaging to their immune systems. In addition to the fears of COVID-19 as it is, for these patients it could cause major health setbacks and potentially life-threatening illnesses. Patients have been attempting to advocate for safer waiting spaces in hospitals, telemedicine appointments, and even improving medication access as many pharmacies have been backed up for months. 

These are just some of the things that impact rare disease patients on a daily basis that can be fixed through laws, regulations, and even just better business practices. The hope with the rare disease advisory council is that each person can take both positive and negative feedback from others, and revamp their part of the system to make changes for the better. The important thing is to continue to advocate and fight for the proper rights that all rare disease patients deserve. Learn more about if your state has an RDAC. See what your senators and legislators are doing. Do not be afraid to advocate. Let us help be the voice for those who can’t, and fight for a better world for everyone. 

Blog 5: Insurance Discrimination for Rare Diseases

Hello everyone! For those of you just joining in, my name is Jonna Crocker. I am a high school senior who is making a series of blogs for my philosophy class, discussing the injustices for rare disease patients and what we can do to help. This is my fifth blog in this series, so make sure to read my other posts as well to learn more!!

Today, I will be discussing the way that rare disease patients are impacted by insurance and how many insurance policies do not meet the needs of families with these conditions. 

Because over 90% of rare diseases do not have a proven effective treatment or cure, insurance coverage is an extremely difficult topic when it comes to rare disease patients. When there is not enough scientific evidence that a treatment will work, oftentimes doctors prescribe medications for patients and the insurance company will deem it unnecessary because it is not proven that it will be effective. This leads to having to pay an extremely high amount of money out of pocket, in other words from your own paycheck. 

This leads to many challenges for families, as many patients or caregivers of patients may have to quit their job due to their condition, where they are already bringing in less income than they typically would. Now, most patients end up having to pay the entirety of the bill for experimental medications, treatments, or even testing to determine the cause of symptoms. 

For more common diseases with more research, this is not an issue. A patient with a certain type of cancer may get their wigs covered by insurance because chemotherapy is proven to be an effective treatment for their condition. But for a rare autoimmune disease that requires chemotherapy to function, patients would need to pay out-of-pocket, hundreds of dollars, to purchase their own wig because the chemotherapy is not proven to relieve their symptoms. 

Additionally, many medications used for rare diseases are considered “off-label drug use”, as the drug was originally created for a different purpose. For example, there are medications like botox that were created to relieve wrinkles in the skin, but now can be used all over the body to relax the muscles and allow organs to function properly. Common “off-label” uses include getting rid of migraines and injecting into the stomach muscles (pylorus). The insurance company will often deny these claims, saying that they are not the intended use of the medication or product.

Many patients or caregivers will spend countless hours on the phone with their insurance company to try and get appeals, as most if not all of what has been prescribed has been told it would be effective by a doctor. Still, with many medications, this can be a daunting task especially while feeling unwell. There needs to be a change in the system, where more medications are covered by insurance to give rare patients the treatments they need to have a good quality of life, relieving their symptoms.

Blog 4: Economic Impact of Rare Diseases

Hello everyone! For those of you just joining in, my name is Jonna Crocker. I am a high school senior who is making a series of blogs for my philosophy class, discussing the injustices for rare disease patients and what we can do to help. This is my fourth blog in this series, so make sure to read my other 3 blog posts as well to learn more!

In my second blog, one of the things that I discussed was the lack of research due to the lack of compensation and revenue that comes along with it. For this blog, I will be talking about the economic impact that rare diseases have on the country and the world on a larger macroeconomic scale. 

Back in 2019, A study was conducted called “The National Economic Burden of Rare Disease”. This study analyzed 379 rare diseases as a subset of the 7,000 known rare diseases and attempted to estimate the economic cost of these rare diseases to the United States as a whole. The number they came up with? Nearly $1 trillion dollars. That's right. Between direct medical costs (only 43% of the total) and indirect costs such as absenteeism, lost work productivity, and nonmedical costs, rare diseases have an estimated economic cost of $966 billion. 

Due to insufficient sample sizes (remember, these are rare diseases we were talking about), 15.5 million of the 30 million Americans with rare diseases were represented in the survey. It goes on to list the top causes for each category of costs: the highest direct costs were for inpatient care at $143 billion, and the highest indirect costs were absenteeism and lost productivity. 

So why is this important and what does this mean for you, an American citizen? At the beginning of this post, I discussed the lack of research being done for rare diseases. Now, when you think about the economic burden that rare diseases cause to the United States, it is evident why countless foundations and legislators are urging policy change to increase investment in rare disease research. We will be discussing policy change further in one of the upcoming blogs, but for now, it is important to see the reasons behind why. If more funding was given to researchers to develop treatment plans and cures for rare disease patients, there would be a significantly smaller number of patients who are hospitalized for their rare diseases. If they are managing their condition, they will likely have more energy to go to work and thrive in that environment. The two leading causes of our economic costs will diminish almost entirely if there are new effective treatment plans on the market. I know that for the time being, it is not likely to cure every single rare disease. But if we start with a few, find treatments, and keep building, it will lead to a healthier America. 

In my second blog, I very briefly touched on the Orphan Drug Act and how it was created to facilitate the development of drugs for rare diseases affecting a small portion of individuals. If we expand upon this and really attempt to create treatments through it, the funds allocated will actually end up coming right back to us as we are creating more stability in the economy. But developing new medications is not the only option to get rid of these economic costs. If we advance our diagnostic tools and attempt to test patients for chronic and rare illnesses sooner, it can shorten the time span of 5-8 years to get a diagnosis which would in turn reduce many of the fees for doctors, hospitalizations, and failed medication treatments. 

Rare diseases are costly to our economy. Although it is challenging, it would be extremely wise to put measures in place to reduce both the direct and indirect costs that rare diseases have on the environment. 

Blog 3: Quality of Care for Rare Disease Patients

Hello everyone! For those of you just joining in, my name is Jonna Crocker. I am a high school senior who is making a series of blogs for my philosophy class, discussing the injustices for rare disease patients and what we can do to help. This is my third blog, so make sure to read my other 2 blog posts as well to learn more!!

Today, I will be talking about the quality of care that rare disease patients receive. This section will be a mix of perspectives from the doctors, to the patient, to the overall quality of life.

A fact that not many people know about rare diseases is that on average, it takes a patient 8 years and 10 specialists to receive an accurate diagnosis of a rare disease. This means that patients are “frequent flyers” in doctors' offices and emergency departments, and often are searching for a doctor who understands the complexities of their condition. 

Many doctors who do not have experience with rare diseases can actually end up saying the wrong thing, or not building the trust needed with their patients. This can be in so many ways. A lot of times, if your heart rate or blood pressure is high, the nurses and doctors will say that it is because you are nervous about the appointment. While sometimes this may be the case, most rare disease patients are extremely used to appointments and actually have high blood pressure due to their condition, an underlying health issue, when they are experiencing high levels of pain, or even because of the medications they are on. 

This is just one example, but it is a way that the doctor’s office lacks the quality of care for rare patients. Part of the goal of this is to raise awareness, and how would the doctors or nurses ever know there was something wrong with this if it hasn’t been said before? These little pieces of the journey are important to note when dealing with a patient with a complex medical history, or years of hospital treatment.

This is not the only piece of the quality of care. As mentioned in prior posts, most rare diseases do not have a proven treatment, which oftentimes leads to experimentation with medications, procedures, and devices. A doctor of a rare disease patient needs to listen, truly grasp the symptoms, and frequently attempt to treat the symptoms versus the root of the cause. For a lot of patients, the key to success in treatment is not getting rid of the disease or the illness, but instead managing it in a way that relieves most of the symptoms and allows the patient a better quality of life. 

The NIH has actually outlined some of the ways to make a doctor’s visit more beneficial when dealing with rare disease patients. They recommend scheduling longer appointment times for those patients, providing a brochure explaining the complexities of the disease, helping the patient gain confidence and control of their treatment, and allowing the patient to make choices through the course of their treatment plan. A lot of times, rare disease patients can feel that there are no choices and that they are stuck to the next thing. While sometimes that can be the case, having an option and being able to make a choice about how you want to treat your symptoms can give confidence and control in their life, making for a better experience. This person is not someone who you will never see again after 6 months or a year. Most rare disease patients will see their doctors for their entire lives to manage their condition. 

If you are a doctor or medical professional, please keep these things in mind the next time you see a rare disease patient. If you are a friend or family member of someone with a rare disease, make sure they know that there are some options available, and that hope is never lost. There is always another path you can follow, and better days are ahead if you keep working towards them!

Blog 2: Research for Rare Diseases (or lack thereof)

Hello everyone! For those of you just joining in, my name is Jonna Crocker. I am a high school senior who is making a series of blogs for my philosophy class, discussing the injustices for rare disease patients and what we can do to help. If you have not already, take a look at my first blog post to learn more about rare disease life!

For this blog, I will be talking about the research for rare disease patients. 

When you get diagnosed with anything, you expect there to be a cure or treatment readily available. If you catch a cold, there is cold medicine. If you have cancer, there is chemotherapy, radiation, or other treatments approved and tested. But oftentimes with a rare disease, a solid treatment plan is unavailable. In fact, more than 90% of rare diseases lack an effective treatment, despite scientific advancements over the past few years. 

For the less than 10% that do have an effective treatment, it is rare that the treatment would cure the patient and put them into remission. Instead, oftentimes it is used to manage the condition and only lessen the symptoms. 

But why are there so few treatments available? According to the FDA, there are too many reasons for the lack of drug and device development for rare disease patients. This is due to the complex biology of many of the diseases, and the lack of understanding as to how they affect a person’s body. Most importantly, due to the small number of patients affected by these conditions, there is not a high enough financial incentive to continue the development of medications. Instead, companies would rather put their resources into creating medications that help a large portion of the population so that they can make more profits.

In an attempt to try and fix that, the Orphan Drug Act was passed. This gives companies funds to develop drugs for rare diseases and incentivizes companies to help since they will gain a profit. Although this is a great idea in theory, there still is not enough research being done, or treatments in the process of being developed.

For my rare disease, I had to try countless medications that could potentially work but were not covered by insurance because they were not proven to treat my rare condition. We will be discussing insurance discrimination in a later post, so stay tuned to learn more.

Over 90% of rare disease patients have these very same experiences. There are not enough medications to try, and those that have been proven to relieve some symptoms are likely to not be approved by the FDA or do not have enough research to validate their effectiveness. We need more companies to research for our patients. We need to find cures.

Blog 1: The Beginning - Definitions and Statistics

Hello! My name is Jonna Crocker, and I am a senior in high school. This is the first of 6 blogs that will discuss the injustices for rare disease patients and what we can do to make a difference!

So to start off, what is a rare disease? I will be sharing some definitions, statistics, and real-life stories to help gain a better understanding. 

A rare disease is defined as a disease or condition that affects less than 200,000 people. Now, that sounds like a super large number. But, to put it into context, there are 7.753 billion people in the world. Out of all these people, less than 200,000 will have a certain rare disease!

There are over 7,000 known diseases in the United States, making a “rare disease” more common than you might think. There are 30 million people in the United States that have been diagnosed with a rare disease, making up a large proportion of the population. It is even rumored that if you put every single person with a rare disease in the same country, it would be the 3rd most populous country in the world. Although the diseases are rare, the amount of people enduring this journey is astounding. 

Before I move on, I want you to take a moment to think. Do you personally know anyone with a rare disease? A family member, friend, or significant other? If you answered no to this question, you are most likely wrong. 1 in 10 people have a rare disease, and many choose not to share it.

Now, why is this cause so important to me? To answer that question, I have a rare disease myself. You cannot tell just from looking at me, but I have a rare gastrointestinal disease that impacts my daily life. Over the past 7 years, I have had feeding tubes, a gastric neurostimulator, and endured many surgeries and treatments for my condition. But on the outside, you would never know unless I told you. THIS is why it is important to raise awareness. THIS is what we do it for.

My next 5 blog posts will be discussing all aspects of the rare disease world and the flaws that we are fighting to fix: lack of research, quality of care, economics, insurance discrimination, public policy, and awareness to the public. I hope that you stick with me to learn more about the rare disease journey, and what YOU can do to make a difference.  

Introduction!

Hello there! Thank you for your interest in my new blog, "Rare Reflections". 

My name is Jonna Crocker, and I am a high school senior from New Jersey. 

In 2015, my sister and I started a nonprofit organization called Fighting H.A.R.D. Foundation with the mission of helping kids with rare diseases and chronic illnesses to not feel alone. To date, we financially assist over 40 families in our local community and send care packages and support to kids all over the country! 

Advocating for rare diseases is something I am extremely passionate about, so when I was tasked with creating a project highlighting a social issue as a part of my philosophy course, I knew that it had to be about the rare disease journey. Thus, I created a series of blogs titled "Inequalities for Rare Disease Patients". Throughout the course of my next 6 blog posts, it is my goal to educate you about the injustices in the rare disease community, why it may be important to you, and how you can help to make a difference!