Partnership Spotlight: NMP and Breathtaking Fundraising Unite to Advance CF Awareness and Newborn Screening

Partnership Spotlight: NMP and Breathtaking Fundraising Unite to Advance CF Awareness and Newborn Screening

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The National Metabolomics Platform (NMP) is proud to announce a meaningful new partnership with Breathtaking Fundraising NPC, an organisation committed to supporting children and adults living with Cystic Fibrosis (CF) in South Africa. This collaboration strengthens our shared vision of improving early diagnosis, increasing awareness, and supporting families affected by this life-threatening inherited disorder.

A Shared Mission for Early Diagnosis and Better Outcomes

Cystic Fibrosis causes thick, sticky mucus to accumulate in the lungs and other organs, leading to breathing difficulties, recurrent infections, and progressive lung damage. Early diagnosis through Newborn Screening (NBS) significantly improves long-term health outcomes and life expectancy- an area where both NMP and Breathtaking NPC are deeply invested.

“At Breathtaking Fundraising NPC, we are thrilled to partner with the National Metabolomics Platform to amplify awareness about Cystic Fibrosis and support those affected by this life-threatening disease. This partnership marks a significant milestone in our mission to ensure access to life-saving treatment and supportive care for all individuals living with CF in South Africa. We believe that together, we can make a tangible difference and create a brighter future for those impacted by CF.”
— Maré Smit, Breathtaking Fundraising NPC, Managing Director

Collaboration in Action

Our joint efforts aim to:

  • Expand national awareness about CF and the importance of newborn screening
  • Support healthcare providers, families, and communities
  • Strengthen pathways for early diagnosis
  • Connect newly diagnosed families with essential resources
  • Advocate for equitable access to treatment and supportive care

A glimpse of what this partnership can achieve was already seen at the recent HASA Conference, where NMP’s Prof. Helen Malherbe attended alongside Breathtaking’s team members, Jane Venter and Lizeli Olivier, partaking in a highly engaging exhibit. Their interactive popcorn-themed display symbolising the elevated salt in CF sweat tests- captured significant attention and earned:

  • 2nd place in the Exhibitor’s Choice Award
  • Tied 3rd overall

This success reflects the creativity, dedication, and passion driving the CF community.

Creating a Ripple Effect of Change

As we reflect on this partnership, we recognize the immense potential to create lasting impact across South Africa. Together, we hope to reach healthcare decision-makers, support clinicians, empower families, and share awareness that can change the course of a child’s life.

The ripple effect of early diagnosis and supportive care extends far beyond a single patient—it impacts families, communities, and future generations.

Get Involved: Be the Change

We invite our broader community- clinicians, researchers, patients, families, and supporters- to join us in advancing CF care and awareness. You can play a role by:

  • Promoting research within the field of CF
  • Enrolling CF patients in the NMP’s Rare Disease Biobank – science can’t move without patients
  • Donating to support life-saving treatment and essential care
  • Sharing our message to raise awareness about NBS and early diagnosis
  • Volunteering with Breathtaking NPC to support initiatives and families

“It is not only researchers, clinicians, and patient advocates who can drive progress. CF patients themselves can play an active role in advancing research by enrolling in initiatives such as the NMP’s Rare Disease Biobank. By contributing clinical information and a small blood or urine sample, patients can play a significant part in research that may change the future for younger generations- and for those who have yet to be born.”
— Prof Ilse du Preez, National Metabolomics Platform, Acting Director

The Power of Collective Efforts

Much like the butterfly effect, small actions, when combined, can lead to meaningful, widespread change. Our partnership with Breathtaking NPC is driven by this belief: that together, we can create a future where every individual living with CF has access to the care, treatment, and support they deserve.

Thank you for being part of our journey. Together, we can make a difference.


Learn More & Get Involved

For more information and to become involved, visit the following:

accelRare® is a pre-diagnostic solution for rare diseases. accelRare® uses the medvir tool, certified as a Class I medical device, for which Medical Intelligence Service is the manufacturer and Sanofi the distributor.

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The National Metabolomics Platform is a specialized laboratory dedicated to diagnosing rare and inherited metabolic diseases. Located on the Potchefstroom campus of North-West University, the laboratory may occasionally require additional tests, including genetic testing, to confirm a diagnosis. If these tests incur additional costs, the laboratory will seek prior approval from you and/or your clinician. To ensure diagnostic accuracy, clinical information and other reports may also be requested. Such requests are made solely to enhance the precision of the diagnosis. Following a diagnosis, the laboratory may contact you about potential research projects for which you might be eligible. These projects aim to improve the understanding and characterization of rare diseases and offer patients opportunities to participate in international clinical trials. Participation in these projects is entirely voluntary, and there is no obligation to take part if contacted. All research is conducted under the oversight of the NWU Health Research Ethics Committee.

GCxGC-TOFMS Untargeted

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Spectra identified via comparison with library spectra

NMR Untargeted

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Spectra identified via comparison with library spectra

LDL Cholesterol Subfractions

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The LDL subfraction test measures up to twelve lipoprotein fractions and subfractions (VLDL, mid-bands A-C and LDL 1 through 7)

HDL Cholesterol Subfractions

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Separates and quantifies up to 10 HDL subfractions, classified from large buoyant HDL lipoproteins (HDL-L) to small-dense HDL lipoproteins (HDL-S).