One Drop Rule Rare Disease Foundation

03/13/2024

It is important for medical providers to not dismiss genetic diseases among older patients. It might be complex but they are still entitled to a resilient life.

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03/10/2024

03/10/2024

👋 Meet Noah from our Faces of Mito campaign! 🌎

Thank you to his mum, Kathleen from New York, USA for sharing your story.

“This is Noah, our 2.5 year old son. At 10 months old he had a cardiac arrest in his sleep. I heard noises on the monitor and picked up his body only to find it lifeless; I immediately started CPR and we called 911. No one could understand why an infant went into arrest for no reason. He had an implantable defibrillator placed for insurance were it to happen again, but all his tests came back with no answers.

At 18 months old he got pneumonia, which caused him to have respiratory distress and three additional cardiac arrests. This time it took him longer to recover. We were in the ICU for 25 days. He was intubated for a week and afterwards he had to re-learn how to eat, drink, sit, and walk. Again, no one could understand why this kept happening.

We pushed for full genome genetic sequencing and finally received an answer — Noah has a mitochondrial disease (mito) called PPA-2, sudden cardiac failure.

It was both a relief to finally get an answer, but also broke our hearts at the same time, knowing we would be dealing with this forever. We found out it is very rare and not much is known about it, also that most of the cases that are known are from people who have already passed away. Through research and connecting with limited other families, we have learned what triggers to avoid - alcohol, vinegar and viruses.

There are no treatments, and we don’t know what life will look like for him. But we take it one day at a time, and strive to get the word out so more research can be performed and we can connect with more families. 💚Noah is the strongest, bravest boy we know.”

🤗 If you'd like to be part of the Faces of Mito campaign get in touch!

Join in by sharing a photo/video/your blog /social media post about yourself or loved ones impacted by mito. Please message us via FB messenger with your stories and photos.

03/10/2024

Circulating metabolites are indicators of systemic metabolic dysfunction and can be detected through contemporary techniques in metabolomics. These me…