Rare Diseases
As a speech pathologist, I have often been one member of a care team treating a person with a rare disease. Rare diseases have unique barriers and require attention to a variety of symptoms that can change in severity and frequency. There are thousands of known rare diseases that affect millions of Americans. Read on to learn more about rare diseases and resources to learn more.
What is a Rare Disease?
While there is not one globally accepted definition, a rare disease is typically defined by prevalence. A rare disease is one that affects a small percentage of the population. Different countries have differing definitions of ‘small’ and some countries do not have a formal definition.
The United States passed the Rare Disease Act of 2002, a law that helped to provide a definition for what constitutes a rare disease and established the Office of Rare Diseases at the National Institutes of Health (NIH). It defines a rare disease as one that affects fewer than 200,000 Americans or about 1 in 1,600 people. Currently there are between 7,000 and 10,000 identified rare diseases, depending on sources, that impact about 25 — 30 million Americans.
Most of the identified rare diseases appear in childhood, often before a child turns five, and are present for most of the person’s life. About 80% of rare diseases are genetic in origin and many have severe, life threatening symptoms. Rare diseases may be acute or their symptoms can be chronic.
While each rare disease has its own unique cause and symptoms, there are some factors that most rare diseases have in common. As a small amount of the population has each specific rare disease, it is often difficult to get a timely and accurate diagnosis.
Barriers for Families
It is easy to find stories of parents searching of a diagnosis for many years before they were able to find an accurate diagnosis for their child. Many diseases have overlapping symptoms and misdiagnosis can be common. For example, one rare disease, Alternating Hemiplegia of Childhood (AHC), is often initially diagnosed as epilepsy as seizures are one common symptom of AHC. During the period of time without an accurate diagnosis, families are left feeling scared, frustrated, and helpless.
Once an accurate diagnosis is provided, it can then be challenging for families to find resources to learn more about the disease and its progression. To use AHC as an example again, there are only about 1,500 known cases in the world. AHC and some other rare diseases have symptoms that can range in frequency and severity which makes it difficult to know what can be expected. This variation combined with the small prevalence makes finding an effective treatment or existing cure extremely difficult if not impossible.
Available treatments for rare diseases will often address symptoms and few known cures exist. Part of this, again, is due to prevalence and available research for each rare disease. This often leaves those diagnosed with a rare disease and their families with many questions that cannot be answered.
Resources
As finding resources for rare diseases is difficult, quite a few organizations have emerged to support individuals with rare diseases and their families. Many of these organizations are doing important research to develop treatments and cures for rare diseases that cannot be treated. I will list and explain some of them here but this is by no means an exhaustive list:
NORD — National Organization for Rare Disorders
NORD advances practical, meaningful, and enduring change so people with rare diseases can live their fullest and best lives. Every day, we elevate care, advance research, and drive policy in a purposeful and holistic manner to lift up the rare disease community. — NORD Webpage
NORD offers a database to learn about more than 1,200 rare diseases. It also has a patient assistant program to help individuals access medications and support. It partners with hospitals and institutions to support research, diagnosis and treatment of rare diseases which they call NORD® Rare Disease Centers of Excellence and created a program to assist researchers by creating a registry called the IAMRARE® program.
Check out their website and the links above to learn more about these important programs and to donate to the vital work that the NORD is doing.
Genetic and Rare Diseases (GARD)
The mission of the Genetic and Rare Diseases Information Center (GARD) is to support people living with a rare disease and their caregivers by providing access to easy-to-understand information that is free and reliable. At its core, GARD aims to meet the public health challenges facing the rare disease community by providing actionable information for patients and caregivers. To that end, GARD also offers customized support from the dedicated Information Specialists in our Contact Center. — The GARD Webpage
GARD is a program that was established by the Rare Diseases Act of 2002 and is managed by the National Center for Advancing Translational Sciences (NCATS), which is part of the National Institute of Health. On their website you can learn more about specific rare diseases by searching their database. They have also Information Specialists available for families to find specific resources such as disease experts or clinical trials for rare diseases.
Check out the links above to learn more about GARD and their resources.
EveryLife Foundation
The EveryLife Foundation for Rare Diseases is a 501(c)(3) nonprofit, nonpartisan organization dedicated to empowering the rare disease patient community to advocate for impactful, science-driven legislation and policy that advances the equitable development of and access to lifesaving diagnoses, treatments and cures. — EveryLife Webpage
The EveryLife Foundation centers patients and families by providing educational resources, trainings, and opportunities to tell their stories and make their voices heard. They hold monthly meetings and webinars that discuss developments that impact the rare disease community.
They created the Rare Disease Legislative Advocates (RDLA), a program to support the advocacy of all rare diseases. The RDLA works to focus outreach and bring awareness to legislation and public policy. It does not promote specific policies but supports all rare disease organizations seeking legislation introduction.
If you want to get involved, you can sign up for alerts to learn about policy that will impact the rare disease community. Additionally, you can donate to their organization so they can continue to promote advocacy.
Rare Disease Foundation
The Rare Disease Foundation (RDF) was founded in Vancouver, British Columbia in February 2008. RDF was launched by rare disease patients, caregivers, researchers, and practitioners who shared the same sense of urgency and values about access to resources and research for rare disease patients and their families. Today, the foundation serves a global community with research funding, resources and community programs. — Rare Disease Foundation Webpage
The RDF is unique in that in addition to providing resources to those with rare diseases and their families, they also provide funding to support research and development of cures. They have provided over 400 microgrants and have worked in over 50 countries. Additionally, they have programs to support the mental health needs of the rare disease community.
Check out their website to learn more and to make a donation so that they can continue their work.
Summary
Rare diseases are diseases are diseases that affect a small amount of the population. Each specific rare disease impacts less than 200,000 people but as there are thousands of identified rare diseases they impact millions of Americans.
Many rare diseases are life threatening and they can have a variety of significant symptoms. As each rare disease is unique and impacts a small population, it is often difficult to get a timely, accurate diagnosis or find an effective treatment. Locating a community and identifying resources to learn more about developing treatment options are other barriers that families face.
Many organizations have worked to support individuals with a rare disease and their families. While these organizations are doing amazing work, much more work still needs to be done and it requires support of the community. Please check out the links in this article to get involved and to help impact meaningful legislation to support the rare disease community.
TLC Speech Therapy is a speech pathology private practice, headquartered in Boston, Massachusetts, that specializes in feeding, swallowing, and cognitive-communication skills in infants, children, teens, and adults.
For more information about speech therapy or high-intensity programming, check out our website at tlcspeechtherapy.com or contact us at hello@tlcspeechtherapy.com
Disclaimer :)
As a speech therapist and certified brain injury specialist, I have experience working with children and adults in many different settings. The information in this article is meant to provide some general information about rare diseases. It is not meant as clinical advice. If you ever have any concerns, please consult with a physician.
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