My son, Macka, has Joubert Syndrome, a rare genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination. He has irregular breathing and occasional apnea, which requires extra oxygen. He has a high palate and poor sucking due to his low muscle tone. He also aspirates some of his food into his lungs.
Macka had a “button” (G-tube) placed in his stomach to feed him for weeks. Previously, he was fed via a nasogastric tube (NG). His low muscle tone means he requires daily physiotherapy to strengthen him. At 10 months, he was unable to support his head and could not roll over. He is developmentally delayed and also has nystagmus of the eyes.
Regardless of everything he may not be able to do, we love him dearly and focus on what he can do. Even his smallest achievements, like reaching out for things and touching them make us happy.
We will give Macka the best life possible regardless of Joubert Syndrome. He deserves that and so does every other person with a rare disease.