Rare Genetic Disorders
350 million people worldwide are living with a rare disease or disorder.
In the US, a rare disorder is an individual condition that affects less than 200,000 people. There are an estimated 7,000 different types of rare disorders and 1 in 10 people are diagnosed with one. Rare diseases are considered more prevalent than cancer and HIV/AIDS combined.
80% of rare diseases are genetic, but that doesn’t automatically mean the disorder was inherited from the parents. Often, a faulty gene spontaneously develops while the baby is in utero causing the rare genetic disorder to occur. At that point, it becomes possible for the individual to pass their disorder on to their children.
While there are a large number of people in the world that have a rare disease, due to the rarity of the individual disorders, the symptoms are often misunderstood and difficult to catch.
On average, it takes patients up to 8 years to receive a correct diagnosis.
50% of patients are diagnosed as adults since symptoms are often missed or remain dormant until the individual reaches a certain age.
Each rare genetic disorder affects the body in very different ways. Most diseases are progressive and will cause the person to lose vital functions such as hearing, eyesight, mobility, etc.
Some disorders cause benign and cancerous tumors to develop anywhere in the body, while others cause nervous system and muscular deterioration. Overall, rare genetic disorders are tough to treat and require complex, life-long medical care.
with a rare disease
of rare disorders
Learn about some disorders that some of the adults are living with:
Neurofibromatosis type 2 (NF2) is a disorder that causes noncancerous tumors to grow in the nervous system. Most individuals develop tumors called vestibular schwannomas or acoustic neuromas that grow on the hearing and balance nerves in the brain.
Symptoms of NF2 typically remain dormant until adolescence or in a person’s early twenties, but they can begin at any age. The most common problems caused by NF2 are severe hearing loss, ringing in the ears (tinnitus), and balance problems. Most people develop tumors in both ears by the age of 30 and eventually become fully deaf.
They are at a high risk of developing another type of brain tumor known as a meningioma and can grow tumors throughout the nervous system, particularly on the spine. The effects of each tumor vary based on location in the body.
Other complications such as vision loss, numbness, or weakness in the arms or legs, facial paralysis, fluid buildup in the brain, and cataracts are also possible.
Schwannomatosis is a disorder that causes multiple noncancerous tumors known as schwannomas to grow on nerves throughout the body. Schwannomas develop when Schwann cells, which normally make up an insulating layer around nerves, grow uncontrollably, and become a tumor.
Symptoms typically remain dormant until early adulthood. The most common symptom is long-term (chronic) pain, which can occur anywhere in the body. In some cases, pain affects parts of the body where there is no tumor. The pain caused by this disorder ranges from mild to severe and is often difficult to manage. Other common problems associated with this condition are numbness, weakness, tingling, and headaches.
Schwannomatosis is very similar to neurofibromatosis type 2 (NF2) since both disorders cause schwannomas to develop in the nervous system. However, unlike NF2, individuals diagnosed with schwannomatosis rarely develop vestibular schwannomas.
Von Hippel-Lindau syndrome (VHL) is a disorder that causes tumors and harmful cysts to grow on organs throughout the body. Tumors can either be noncancerous or cancerous and typically don’t develop until young adulthood.
Hemangioblastomas are a benign tumor that forms from blood vessels in different areas of the body. Depending on their location, these tumors can be life-threatening or cause serious complications. If they develop in the brain and spinal cord, they cause severe headaches, vomiting, loss of muscle coordination, and weakness. VHL also causes cysts to grow in the kidneys, pancreas, and genital tract, which increases the risk of certain types of cancer to occur.
A small percentage of people diagnosed with VHL also develop noncancerous tumors in the inner ear, which can lead to hearing loss, ringing in the ears (tinnitus), and balance problems.
Living with an incurable, progressive condition is extremely challenging and creates a financial and emotional strain on the individual and their family. As a result, people diagnosed with rare genetic disorders are at a high risk of developing depression.
Traveling can help people coping with a rare disease improve their mental health. How?
Even when returning home, the memories created during travel help maintain a positive mental state to revisit during times of stress.
Since many of these disorders are relatively unknown to the general public, resources are limited and individuals don’t get the emotional support needed to thrive in their daily lives.
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