I got a call around 2 pm on Thursday, April 11th from Austin’s Pediatrician, Dr. Prosser. He regretfully informed me that the DNA results indicated that Austin was homozygous for the DeltaF508 mutation, meaning he has Cystic Fibrosis. Dr. Prosser referred us to a Cystic Fibrosis Center at UCSF. After that phone call, I cried hysterically for two hours straight. I cried when I called my mom to tell her. I cried when I told Tyler’s mom. I cried when Tyler’s mom came over to comfort me. I cried in the message I left Tyler, who was at work. I cried when Tyler surprisingly walked through the door, home from work 4 hours early.
The rest of the night was kind of a daze. There was lots of crying obviously. It is just so hard to comprehend how and why this is happening to us.
At 9 am on April 12, Austin had his first Cystic Fibrosis appointment at UCSF. The doctors did a sweat test to confirm his Cystic Fibrosis (Chloride levels were 109, WAY above the highest normal level of 60). We met with a doctor, a nurse, a nutritionalist, a physiotherapist, and a social worker. It was a bit overwhelming, but they were all really nice.
We started Austin on pancreatic enzymes (CF people cannot make enzymes to break down fats, carbs, and proteins on their own) and we are “beating” him for 3 minutes (breaking up mucus in his lungs). Eventually, we will start him on inhaler medications and nebulizer medications. It is going to be a lot of work, but it is what we have to do to keep Austin healthy.