Understanding Rare Diseases

Advancing awareness and knowledge for rare conditions worldwide.

Definitions Vary by Region

A rare disease is a medical condition that affects a small percentage of the population. Although each condition is uncommon, together rare diseases impact millions of people across every continent.

United States

A disease is considered rare if it affects fewer than 200,000 people nationwide.

European Union

A disease is defined as one that affects fewer than 1 in 2,000 people.

Japan

A disease is considered rare if it affects fewer than 50,000 people.

Australia

A condition is classified as rare if it affects fewer than 5 in 10,000 people.

Key Facts

7000+

Rare diseases have been identified

Millions

Hundreds of millions of people are affected worldwide

70-80%

Genetic and many are chronic, progressive, and life-threatening.

Challenges Faced by Patients

Diagnostic Odyssey

Years of medical appointments, repeated testing, and referrals before receiving the correct diagnosis.

Mental Health Impact

Rare diseases can deeply affect emotional well-being, causing stress, anxiety, depression, isolation, frustration, fatigue, stigma, and feelings of being misunderstood.

Responses patients hear

"Your tests are normal."
"It's probably stress."
"You look fine."
"It's all in your head."

Delayed diagnosis

It results in:

Disease progression
Unnecessary or incorrect treatments
Emotional isolation
Financial strain

Family Impact

Rare diseases affect the entire family emotionally and practically, with a profound impact on parents.

Emotional effects on parents

Stress, anxiety, and guilt over their child’s condition
Emotional exhaustion and burnout from long-term caregiving
Worry about the child’s future, education, and independence
Grieving the loss of a “normal” childhood experience

Emotional effects on other family members

Sibling emotional impact, including jealousy, neglect, or anxiety
Family tension due to caregiving responsibilities

Practical challenges for families

High medical expenses and frequent appointments
Significant caregiving time burden for parents
Adjustments to daily routines and lifestyle changes
Difficulty balancing work, family, and care responsibilities

Support for families

Counseling & therapy for parents and caregivers
Caregiver support groups and peer networks
Respite care programs to allow parents time to recharge
Education, advocacy, and community resources for families
Recognizing the profound emotional and practical challenges on parents is essential for providing holistic
Support and ensuring the wellbeing of the entire family.

Rare Conditions

Raising awareness of rare and often misunderstood conditions that deserve earlier recognition, better care, and continued research.

Hemiplegic Migraine

A rare neurological condition that may cause:

Temporary paralysis or one-sided weakness
Stroke-like symptoms
Speech difficulties
Seizures
Extreme light and sound sensitivity
Rarely life-threatening

Functional Neurological Disorder (FND)

A disorder affecting communication between the brain and body.

Weakness and tremors
Movement difficulties
Non-epileptic seizures
Chronic pain
Fatigue
Sensory sensitivities

Rare Thyroid Disorders

A rare conditions affecting:

hormone balance
metabolism
growth
overall body function

Rare Seizure Disorders

Less common seizure disorders that can be difficult to diagnose.

Status epilepticus
Eating or drinking-triggered seizures
EEG-negative seizures
Life-threatening seizures

Rare Digestive Disorders

Uncommon gastrointestinal conditions that may cause:

Chronic pain and inflammation
Malabsorption and nutritional challenges
Nausea and vomiting
Food intolerance
Severe dietary restrictions requiring specialized nutrition and ongoing management

Rare Autoimmune Arthritis

Infrequent autoimmune conditions causing

Joint inflammation
Disability

Scleroderma

A rare autoimmune disease that may cause:

Hardening of the skin
Damage to connective tissues
Reduced mobility
Difficulty with daily activities
Potentially affecting organs

Rare Brain Disorders

Neurological conditions affecting

Cognition
Movement
Sensation
Overall brain function

Extreme Sensory Hypersensitivity & Seizure Risk

Some rare neurological and autoimmune conditions involve extreme sensitivity to everyday sensory stimuli, which may trigger seizures or other severe neurological responses.

Common Triggers

Conditions such as Hemiplegic Migraine, Functional Neurological Disorder (FND), and certain Rare Seizure Disorders may involve heightened sensitivity to:

Sound
Light
Touch
Vibrations

For some individuals, these triggers can provoke seizures or other severe neurological symptoms, making everyday environments overwhelming, painful, or unsafe.

Supportive Strategies

Quiet or low-light environments
Reduce sudden sensory stimulation
Accommodations at home
Support at school and in the workplace
Individualized healthcare accommodations

Understanding sensory sensitivities, chronic pain, dietary restrictions, and seizure risks—including difficult-to-detect and life-threatening seizures—is essential for safer care, earlier recognition, and improving quality of life.

Our Commitment

At But I Fly Innovations, we are committed to amplifying rare voices, supporting patients and families, advancing research, and creating innovative solutions so that no condition or individual is left behind.