I have a beautiful four-year-old son named Weston Charles. He is my light, my joy, my everything, my world.
He has a rare genetic disorder that has seriously compromised his life. He was born with Cockayne syndrome; both my husband and myself had the defective gene; we were the carriers.
Our son has type II Cockayne syndrome. He is shorter than average, has limited eyesight (he is legally blind), and has accelerated aging (progeria), as well as sensitivity to direct sunlight (xeroderma pigmentosum). He cannot be in direct sunlight, or he can get very sick, especially if he is out in it for a long period of time (like over forty five minutes to an hour).
Doctors don't think he'll live longer than the age of seven years. that's only three more years.
Getting this diagnosis has been harder on us than on Weston. Weston knows he has something wrong with him; he just doesn't understand most of the details. He's too little to understand the gravity of his situation. He does know he can't see well and is shorter than most kids his age, plus he knows he can't be in sunlight; but nothing more than this.
Weston is a typical little boy: that is, he loves to climb, run around, yell, play with his toy firetrucks, cars, and ambulances, and play with his family and friends. Nothing has really stopped him.
We enjoy watching our son; we know that in time, the condition will worsen. He'll lose more of his developmental and neurological milestones, and he'll be more prone to diseases of old age (heart attack, aneurysms, high blood pressure, lung issues, etc.).
The thought of losing our child is more than we can bear. We wish we could do something more, but for now, all we can do is take him to his appointments and therapy sessions, and take him to his pediatrician when he gets sick, as well as make sure he takes his medications.
*To be continued.*