Baby Roman's fight with incurable mitochondrial disease

Hi, my name is Amelia, and I am raising funds on behalf of my beautiful nephew Roman and his loving parents, Lorenzo and Claudia. From his birth, Lorenzo and Claudia have been at Roman's bedside in the hospital due to a fatal condition. Roman has been diagnosed with an extremely rare and incurable mitochondrial disorder called PolG disease. Doctors have advised that this form of the disease is unfortunately incurable. Within the population, there is a 2% chance of inheriting mutations in the PolG gene. However, Roman has unfortunately inherited two mutated PolG genes, which has led to an extreme and fatal form of this disease. If it weren’t for the perseverance of Claudia and Lorenzo, this diagnosis would’ve been missed. The mitochondria, aka the powerhouse of the cell, are impaired and cannot produce energy effectively. Due to impaired mitochondrial function, Roman experiences severe fatigue, muscle weakness, feeding issues, bowel problems, and considerable pain. However, Roman will be faced with neurological complications such as seizures and developmental delays. Roman will experience liver complications due to the buildup of toxicity, as well as hearing loss and potential blindness. Given the severity of his symptoms from birth, Roman has been given a life expectancy of anywhere between 3 and 18 months. These funds will be used to support occupational therapy, physiotherapy, medical care, equipment, and resources for Roman that Medicare does not cover. Also, I would like to raise these funds to assist my sister and brother-in-law in having the opportunity to have more children in the future. Due to these mutations, they will not be able to safely have more children without the help of IVF and specialised testing, which would not be achievable due to a lack of Medicare funding. Also, I would like to alleviate the financial pressures which Roman’s parents are faced with, which has prevented Lorenzo being able to step away from his family business during this time. Ultimately, my family would like to use this fundraiser as an opportunity to bring awareness to mitochondrial disease, which is simply not talked about enough. In the future, we hope that enough awareness is raised to not only prevent this heartbreak for other families but also to encourage efforts to provide more opportunities or awareness for genetic testing for a greater variety of conditions.