What are ‘rare’ rheumatic diseases?

The official Canadian definition of a ‘RARE’ disease, is a disease that affects fewer than 5 out of 10,000 people.

To give you an idea of how rare some diseases can be, let’s consider a high school in Canada with an average of 1,500 students. Lupus, a relatively rare disease, may affect only one student in the entire school. Other rarer diseases such as Childhood Vasculitis and Periodic Fever Syndromes may affect only one student in four schools.

Rare diseases in rheumatology are surprisingly common – there are approximately 7000 known “rare” rheumatic diseases including: Systemic Lupus Erythematosus (SLE, Lupus), Juvenile Dermatomyositis (JDM), Childhood Vasculitis, TRAPS, DADA2, Periodic Fever Syndromes, PFAPA, SJIA, and CRMO.

What are the the common experiences of having a child with a rare rheumatic disease, or being a patient with one?

1. It can be difficult to find credible information about the disease.
2. Most children living with them have likely not met anyone else with the same disease.
3. Community health care providers have less experience treating the diseases.
4. Kids and families may feel alone as they try to navigate their disease journey.

WATCH: Intro to Rare Childhood Rheumatic Diseases

Presented by Dr. Lori Tucker, Division Head, Pediatric Rheumatology, BC Children’s Hospital.

And, get connected to even more support by visiting the organization webpages below

• National Organization for Rare Disorders (NORD)
• Canadian Organization for Rare Disorders (CORD)
• Autoinflammatory Alliance
• Canadian Autoinflammatory Network (CAN)

FACT:

Rare Rheumatic Diseases often share many similarities with one another.

Similarities

Involve immune system activation

Are chronic, long term diseases

Have similar principles for being evaluated & treated by physicians

Can cause worry & isolation in kids/caregivers

Have many physicians and allied health personnel on their care team

Differences

The implicated immune pathways

(Click to learn more about the differences between Autoimmune and Autoinflammatory Diseases)

The ways they affect the body (e.g., Skin, Muscles, Joints, Blood Vessels, Kidneys, etc.,)

The time it takes to get a diagnosis. Often, the more rare the disease, the longer it takes to get a diagnosis.

Learn more about specific rare disease information in our ClassRheum Learning Hub:

Systemic Lupus Erythematosus (SLE, Lupus)

• More common in girls/women and in people of color
• Symptoms can include rashes, fevers, kidney inflammation, and other organ inflammation

Juvenile Dermatomyositis (JDM)

• Inflammation of skin and muscle
• Children can have generalized weakness ranging from mild to severe

Childhood Vasculitis

• Inflammation of the blood vessels but often involves other organs like the kidneys and skin
• There are many types of vasculitis

Periodic Fever Syndromes

• Classified by having recurrent episodes of unprovoked inflammation, usually with fever

Chronic Recurrent Multifocal Osteomyelitis (CRMO):

• CRMO is an ultra-rare rheumatic disease causing inflammation in a child’s/teen’s bones.

Autoimmune vs. AutoInflammatory Diseases:

• Coined less than 20 years ago, the word autoinflammatory is often confused with autoimmune—so, what’s the difference?

Genetics and Childhood Rheumatic Diseases:

• Identifying genetic factors associated with rheumatic diseases can help doctors better understand these conditions and develop more effective treatments.