2/18 - the vent and genetics

Leo's first full day with a trach was thankfully uneventful. The little guy has a vent attached to his trach. He is not receiving supplemental oxygen, but he is receiving pressure support and help taking breaths. If Leo breaths below a respiratory rate of 30, the vent assists him. They are not currently weaning his settings because he is being sedated to ensure he does not dislodge his trach. Later in the week they will hopefully wean his rate and pressure. Our new goal in life is getting Leo off the trach vent. We want him to be able to experience life without being attached to a machine.

We received some news from Genetics. We know that his cerebellum and brain stem are underdeveloped and causing him challenges, but we still want to know why. All the time at the hospital has given us some extra time to research and the incredible people in the Facebook group gave us some ideas. We were supposed to see Genetics in April, but since we are here, I called them for a consult. I asked them about a special test for some gene mutations associated with the cerebellum and pons. They proposed a different idea. They would like to do Exome Sequencing which is basically the granddaddy of all genetics testing available to the public. The test would give us a map of all of Leo's genes. His original micro-array tested for numerous different syndromes and is currently the standard in genetics testing, but this new test would take us into the extremely rare categories.  The test takes about three months for results and we need to get insurance approval. The genetics counselor said they've had good luck with our insurance company in the past, but some insurance companies won't even consider it. Hope we get approved and the test reveals something that will unlock Leo's medical mystery.