Top 9 Issues Facing the Rare Disease Community

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Rare isn’t really all that rare….according to the National Organization for Rare Disorders (NORD) 1 in 10 people live with a rare disease, and this does not include the millions, living with an undiagnosed, rare condition.  A disease is considered rare when it affects fewer than 200,000 Americans at any given time. About 7,000 rare diseases have been identified and advances in genomic testing are finally allowing us to identify and discover new conditions.  

However, the journey does not end with a diagnosis.  The fight for appropriate medical care and services is ongoing in the rare disease community.  Here, we highlight nine of the most significant issues affecting the rare disease community (and as you will see, one thing can lead to another):

1. Diagnosis

Many families search for a diagnosis for years, and historically, it has been incredibly difficult to obtain an accurate diagnosis. Some studies have estimated that up to 40% of rare disease patients are misdiagnosed at least once.[1] With recent advances in genetic testing, researchers are beginning to identify new disorders and conditions, which is incredibly exciting and provides opportunities for identifying and understanding how particular genes influence our general health and development. However, many providers lack awareness and education on rare diseases and genetic testing can be quite expensive. There is often a lengthy process involved in testing and more advanced genetic testing, such as Whole Exome Sequencing (WES), is not always covered by insurance. However, even if you have a diagnosis, you may lack substantial….

2. Research

Only 50% of rare diseases are represented by a Foundation or Research Network.[2] These research networks and non-profits are critical in mobilizing and organizing researchers and clinicians for a particular rare disease. Research takes up an incredible amount of time and money, but It is only through research, that effective therapy, treatments, and clinical trials can be proposed. However, even if your particular condition has been or is being researched, you may lack…..

3. Access to Quality Medical Care

Most rare diseases are treated by numerous specialists such as geneticists, neurologists, endocrinologists, dermatologists, etc. However, there are few places in which to seek specialized medical care for rare diseases, and due to the rare nature of these conditions, there may be NO specialists treating your specific rare disease. You will also be responsible for researching and coordinating your care, appointments, and therapy, as there is likely not a patient advocate, social worker, or anyone else to help point you in the right direction. Even if a specialist exists for your particular condition, it can be costly to see them. You must arrange for your own travel and expenses and Medicaid often places restrictions on where you may seek care. IF you finally find a specialist, you may lack access to….

4. Orphan Drugs and Treatment

Orphan drugs are drugs that are developed to treat rare medical conditions but are generally not produced by major pharmaceutical companies because they would not be profitable without government assistance. Although government programs to encourage and increase development of orphan drugs exist in the U.S. and the European Union, it is still incredibly difficult to establish orphan drug trials and drug costs can be prohibitive. The fact that 90% of all rare disorders do not have an FDA approved treatment is significant as you think about the 1 in 10 individuals diagnosed with one of these disorders.[3] However, even if you manage to find a specialist who can actually treat your condition, you may struggle to obtain….

5. Reimbursement and Affordable Medical Care

Reimbursement for medical expenses is often a time-consuming and frustrating process. Reimbursement and authorization are needed for everything from genetic testing and other labs, medical procedures, therapy of all kinds, medications, and adaptive equipment. Certain services, like physical therapy, are often capped at anywhere from 10 to 30 sessions per year, and some plans do not cover services like these at all. Not all families qualify for Medicaid despite the burden of care, and Medicaid sometimes restricts the type of care you may receive. Oh, and I guess I should mention high deductibles and out-of-pocket maximums…..yeah, if you have a rare disease, PERIOD. End.Of.Story. Which means, having a rare disease is….

6. Costly

It’s expensive to have a rare disease because you have needs….needs for adaptive equipment, communication devices, accessible housing, physical therapy, occupational therapy, speech therapy, vision therapy, MRI, EKG, EEG, medications, multiple specialist appointments, travel expenses to see specialists, wheelchair vans, and this list goes on……Childcare and caregiver expenses can be astronomical and wages can be lost if you or a caregiver has to leave work frequently or leaves the workforce all-together. Families of those with a rare disease also feel a significant burden when making financial plans for the future. While dealing with all of these issues, rare disease can be….

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7. Isolating

Individuals and families affected by rare disease often face isolation. You may be one of hundreds or just a handful of individuals in the entire world with your particular condition. There may be nobody in your area, your state, or even your country with the same condition. Many people seek comfort, validation, and support through online community support groups, but this does not replace connection with people in your own community. All of the above lead to a decline in…..

8. Patient AND Caregiver Health

Rare disease patient health can suffer under the above constraints. Caregiver burnout also is a very real thing. The effects of grief, chronic sorrow, and stress can significantly impact both patients, and caregivers, emotionally, physically, socially, and professionally. Yet, one of the largest issues facing the rare disease community is a complete…..

9. Lack of Public Awareness

The general public is largely unaware of the issues that face the rare disease community. They are unaware of the challenges the rare disease community experience in accessing medical care, treatments, and supplemental income. They are unaware of how difficult it can be to coordinate care and the stress this places on diagnosed individuals and caregivers. Most people are unaware that 80% of rare conditions have a genetic origin and that 50% of rare disease patients are children.[4] Many are shocked to discover that scientific advances in rare disease research positively impacts treatments for other more common medical conditions. And most importantly, the general public is unaware that rare is not rare….that 1 in 10 individuals are diagnosed with rare disease, cumulatively impacting more people than cancer and AIDS combined..[5]