Help Cure Ruby And Campbell

      Brian and I have been holding something very close to our hearts over the past 1.5 years. This is not a post we ever thought we would have to share, but with recent research results and rare disease day being Feb 28th, we feel it’s time to tell our story.
      When our daughter Ruby was young, we noticed she was very small for her age and behind on her milestones starting around 8 months old. We started early intervention for PT, OT and feeding therapy. While she progressed with mobility and milestones, I knew as a physical therapist that something just was not right. We saw many specialists and completed several tests showing normal results, however as she continued exhibiting difficulties with appetite and mobility, we requested a referral to neurology for further genetic testing. In October of 2024, just three days after Ruby’s 2nd birthday, Ruby was diagnosed with Leigh Syndrome, a very rare disease caused by a Surf1 gene mutation inherited by both parents. Brian and I had no idea we were both carriers of this rare recessive genetic mutation. Leigh syndrome is a type of mitochondrial disease affecting 1 in 40,000 children and it is a terminal disease with no cure at this time. In December 2024, we found out more devastating news when Campbell’s genetic testing results also showed he had Surf1 Leigh syndrome. Finding out both of your children have a terminal disease with no real prognosis and an unknown life expectancy is absolutely horrible. And living daily with anticipatory grief is a feeling that is unimaginable and beyond words. Leigh syndrome is a neurodegenerative disease meaning it is likely that our children will show regressions with their physical and mental abilities as the disease progresses. On a positive note, our children are currently thriving and progressing at the present time. They are both enrolled in preschool and doing very well. While their physical abilities are currently different than that of their peers, they make up for it with their outgoing personalities. As mentioned previously, there is no cure for Surf1 Leigh syndrome at this time. However recent gene therapy studies have shown promising results in animal studies for Surf1. Unfortunately, the funding for this research is lacking. Funding needs to be raised for a formal toxicology report to be completed and then drug manufacturing before a human clinical trial can occur. Our family wants to help raise funds to continue this research in hopes that the results from a human clinical trial could CURE our children from this horrible disease! If you are financially able, we would love any donations to CureMito which is the foundation sponsoring this gene therapy research.  Brian and I are pledging to match donations up to 5k. If you are unable to donate, we would love your thoughts and prayers for our children and our family as we navigate life with this horrible disease. Thank you for reading and for your support of our family! 
Love, The Passafiumes