The story of Tori
My daughter, Aria, is 4 going on 5 years old this June and was diagnosed with Methylmalonic Acidemia (MMA – type Mut 0) when she was a newborn via a Newborn Screening Test back in 2017. The Co-enzyme, known as Mutase, that helps the process of breaking down protein, does not work to its full potential in her body and causes a build up of acid in her blood. Her condition is manageable, although it certainly is a hard rare disease to live with. She is on a restricted protein limit per day, semi-vegetarian lifestyle, must drink a formula that consists of no protein to help build her calories up for weight and growth, and requires daily medication and B12 injections three times a week to help the co-enzyme Mutase to function a bit better. When she is sick or refuses to eat or drink, she unfortunately must be admitted to hospital so her condition does not worsen. Almost a year ago now, she experienced a metabolic stroke (when she consumed too much protein and not enough calories to counteract the amount of protein she was having and then too much of the acid in her blood went to her brain and caused a bit of damage to some parts of her brain), and unfortunately affected her breathing and walking temporarily. Thankfully, she was fine and her brain has learnt to work around the damage on her brain now, and she was able to breathe normally and walk properly again.
She is a very brave girl, and her journey is unfortunately life-long, but she will always have the support and love from her family. We hope one day to find a cure for this condition and hope she, and many others like her, no longer endure all that comes with MMA.