Late in the Game
From there many pieces of a 14 year-old unsolved puzzle began to make sense, and as much grief the diagnosis brought us it also brought us answers and a path forward. For over a decade of his life he struggled with respiratory, digestive, and growth issues and now we knew why.
Our daughter, too
Our younger daughter, Emily who was about to turn 11 was also diagnosed with CF through sweat and genetic testing. Her symptoms had been milder as a child but she struggled with growth and weight gain. She is now 20 away at college studying psychology and keeping very healthy. She has had some CF bumps along the way and thank God for her brother's diagnosis; we were able to avoid some issues that could have become much worse for her if she was adequately diagnosed herself. I do believe her path would have been very different if she wasn't treated the way she was and still is.
This journey has been a rollercoaster and an intense education that never ends. Shortly after Jon's diagnosis his pancreas decided to attack itself on a full-time basis. He lost his ability to eat by mouth, and was tube and IV fed. He spent years, his formative high school years inpatient almost on a continual basis. He no longer could attend high school physically, and was on homebound instruction. Jon was dependent on Dilaudid and fentanyl (powerful addictive narcotics) round the clock to even be able open his eyes, even though it barely touched the pain.
The pain of pancreatitis
Pancreatitis is one of the most painful conditions a person can endure partially due to where the organ is positioned and the amount of nerves that are connected to it. It's deep in your solar-plexus area. Jon had constant pain 24/7 10 out of 10 that he described as if he was shot with a shotgun in the center of his body and through.
He said it pounded, pulsated, was heavy and deep, burned, stabbed, and shot to other areas including his left shoulder, back and left lung. This made it very difficult for him to take a full breathe ever, which affected his lung function drastically. You know that saying don't use it you lose it, well that is what was happening. Not to mention his CF had not been treated up until that point and he had aspergillosis at time of diagnosis that had set in for quite a few years.
Quality of life
In 2016, Jon's situation was becoming very serious we had to make some decisions or things were headed to end of life. He had no quality of life in any sense what-so-ever. We travelled with him to University of Minnesota where he had a 14 hour surgery that saved his life. He had a total pancreatectomy with an auto-islet cell transplant. He was in patient for several months, and after many complications and bumps along the road the transplant and surgery was a success in the end.
Although he has no pancreas at all he only needs a small amount of insulin and that is after 6 years. He was not insulin dependent the first 5 years of the surgery. Now life is not easy for him by any means, he still has CF and life without a pancreas has its own laundry list that never ends.
The most impactful has been the emotional trauma the physical and mental pain the two diseases, CF and chronic pancreatitis has caused. The isolation, the uncertainty, and interruption to emotional growth as an adolescent has been so intensely damaging. He is 23 now and works hard with therapy and support from family to move forward. Our whole family has been hurt by this and the wound seeps slowly as it tries to heal, while still fighting a progressive disease.
The trauma of a late diagnosis
Late diagnosis brings so much to the table to be discussed. There is the let down and failure of the medical community, the continued mistrust of them from this and learning how to gain confidence while question and advocate. There is a huge amount of guilt as caregivers and parents that we felt and still feel, that we made wrong choices, didn't push enough, or ask the right questions.
Although the late diagnosis is in no way our fault or even maybe the fault of the medical community I believe its important to validate those feelings. This is something that I would like my children's doctors and medical professionals to really understand. I look forward to sharing more of our journey which has been very eventful some good some bad.
Have you (or a loved one) been experiencing any negative side effects from Trikafta?