There are many rare rheumatic diseases that can affect children, and these conditions can be challenging to diagnose and treat. Some examples of these diseases include JIA, Lupus, JDM, Vasculitis, Behcet’s Disease, Dada2, Periodic Fever Syndrome, and many more.

Genetics can play a significant role in the development of many rheumatic diseases in children. Some children may be born with genetic mutations that make them more susceptible to these diseases, while others may develop these mutations later in life. Identifying genetic factors associated with rheumatic diseases can help doctors better understand these conditions and develop more effective treatments. Additionally, genetic testing can be helpful in diagnosing certain rheumatic diseases and in identifying children who may be at increased risk for developing these conditions.

In this webinar, Dr. Ash Marwaha covers (with time stamps):

• Information about monogenic single gene disorders and polygenic multifactorial disorders and how rheumatology symptoms could belong to both — clinical genetic testing is *ONLY* available for rare monogenic conditions which are a small proportion (28:40)
• Unusual features that are indications for rare monogenic genetic testing – that mostly we send a panel of genes first and there are different possibilities for results, and how a negative genetic test could be for many reasons (gene not on panel , not monogenic , mosaic) (37:56)
• If you have negative clinical genetic testing, you are undiagnosed and go on a long diagnostic odyssey – now you must rely on research and in Calgary we recall the data from the panel and look at other genes (exome) and if that is negative do whole genome testing! (45:18)
• Whole genome is our biggest research-only genetic test – it sequences everything, all the genes and the in-between bits that control genes. Produces many possible gene changes so we are realizing we need functional tests (RNA or protein or methylation) to help analyze genomes. (49:12)
• A picture of a physician/patient network we formed in Canada for an unfunded grant. At the centre of this group was a patient group under CAN-SAID who continue to try to advocate for systemic autoinflammatory disease (SAID) in Canada. (51:39)

rare rheumatic disease stories from our community

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Helpful Resources

• SKIP Resources for Needle Pain Management
• The Meg Foundation
• Anxiety and Depression in Youth with Rheumatic Diseases