Ontario is taking an important step forward by piloting a genomic newborn screening program, and together, we have an opportunity to ensure mitochondrial diseases are part of that future.

At MitoCanada, we’re working with our community to help bring lived experience into this process, one mitochondrial disease at a time.

Newborn screening helps identify serious health conditions early, giving babies the best chance for timely care and improved outcomes.

Genomic newborn screening builds on this by enabling the detection of many more conditions earlier in life, transforming what’s possible for newborn health.

The INFANT Study is a new research initiative led by Newborn Screening Ontario and the CHEO Research Institute.

It explores genomic newborn screening (gNBS), a new approach that looks at a baby’s DNA using the same heel-prick blood sample already collected at birth.

  • Current screening in Ontario detects ~30 conditions
  • gNBS has the potential to screen for 200+ genetic conditions
  • Early detection can lead to earlier care, better outcomes, and informed decision-making

This is a pilot program. There is still much to learn, and that’s where community voices matter.

While mitochondrial diseases are often under-recognized, they are not absent from this work.

There are over 20 mitochondrial and energy metabolism disorders already included in the Ontario INFANT genomic newborn screening panel, particularly those affecting how the body produces and uses energy.

At MitoCanada, we see this as an opportunity.

Mitochondrial diseases are often complex, underdiagnosed, and life-altering.

For some conditions, early diagnosis can:

  • Prevent life-threatening events
  • Guide safer medication and lifestyle choices
  • Support early monitoring and intervention
  • Provide families with clarity and direction







PPA2 (inorganic pyrophosphatase 2 deficiency) is a rare mitochondrial disorder that affects how the body produces and manages energy.


It is most often associated with:


    

  • Sudden cardiac events
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  • Metabolic stress intolerance
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  • Increased risk during illness, fasting, or alcohol exposure
    • 



In some cases, the first symptom can be sudden and life-threatening.


Read our PPA2 Faces of Mito story, Turning Personal Loss into Awareness, featuring Meghan Teague, as she shares her lived experience with PPA2 and her family’s journey.




PPA2 is a meaningful candidate for genomic newborn screening because:


    

  • Early awareness can save lives
    Families can avoid known triggers (e.g., fasting, alcohol later in life)
    • 

  • Care can be proactive, not reactive
    Monitoring and preventative strategies can be put in place early
    • 

  • Clinical actionability exists
    While there is no cure, management strategies can significantly reduce risk
    • 

  • The cost of not knowing is high
    Diagnosis often occurs only after a critical event
    • 





Data is powerful, but lived experience drives change.


We are inviting Canadians living with and affected by PPA2 to help advocate for its inclusion in the Ontario genomic newborn screening.


MitoCanada has:


    

  • 

    Provided and submitted the scientific framing and community impact for PPA2
    

    • 



We need you to :


    

  • Briefly share how PPA2 has impacted you
    • 

  • Share why early diagnosis matters
    • 

  • Share why you would like to see PPA2 added to the genomic newborn screening list
    • 



These three important pieces of information will help decision-makers understand real-life impact.


Together, this creates a powerful, balanced case.




If you or a family member are affected by PPA2:


👉 Complete our short contact form
👉 We’ll send you our advocacy toolkit and guide you on how to share your experience