On Thanksgiving Day 2018, Carter James Fischer was born to Becky Kalbler and Dustin Fischer. Boy, we had our Butterball, 9 pounds 6 ounces and a full head of hair! Little did we know that he would be whisked off to the University of Minnesota Masonic Children's Hospital merely an hour after he was born.
Little Carter was born not producing surfactant, a fluid secreted by the cells of the alveoli (the tiny air sacs in the lungs) that serves to reduce the surface tension of pulmonary fluids; surfactant contributes to the elastic properties of pulmonary tissue, preventing the alveoli from collapsing.
Carter was unable to breathe without help and was intubated. Doctors struggled to determine what the cause of his inability to produce the surfactant. He was treated with supplemental surfactant in the hopes that his body would start producing his own, only to have that fail.
At two weeks old, he underwent a lung biopsy in hopes that examination of the lung tissue would give some insight to this mystery; after two long weeks of waiting the results were inconclusive. A blood test was performed and when the results came back it was determined Carter has two mutations of the ABCA3 gene. One of the mutations has completely wiped out this gene, and the other is so rare they don’t know what it will do. Both Becky and Dustin have completed Genetic testing in the last 24 hours to help Doctors figure out what the other Mutation will do to Carter. These tests will take 3-4 weeks to get back. With the Mutation completely wiping out the ABCA3 gene this means Carter will never be able to breathe on his own.
He will need to be on supplement oxygen his entire life unless he has a lung transplant. The problem with rushing into a lung transplant, it doesn’t have great outcome in children this young and only has an average of a 5-year lifespan. As you can imagine this has been a terrible situation for all and a tough thing to hear.
There is no magic drug that will make Carter better, so all we can do is try things to just make him not get worse. Unfortunately, this mutation can cause Carter to worsen at any time. So, he will require 24/7 care for the foreseeable future.
We met with our great team of nurses, and doctors on Friday to make a short-term game plan for Carter knowing what we do now. Our doctors are also reaching out to Children’s Hospital in Houston Texas, as they are one of the best Transplants centers in the country for lungs. We are hoping they will get back to us next week with their thoughts for Carter and help us with the next plan. At some point we will need to make the toughest decision in the world and get him on the list to get a lung transplant knowing the risks and long-term outcome.
Becky's Sister Jaime created a Go fund me page for us as well. If you or anyone you know would like to make a donation it can be done by simply going to the ways to help portions and clicking on the gofundme link