Any parent of a special needs or medically complex child (or any adult with chronic or complex health issues, for that matter) knows the rarity and value of a doctor who is actually interested and 100% invested in doing right by their patients. We’ve been lucky enough to find two doctors like this. Imagine this …
Month: January 2019
Real Food
Finnian started out Day One of life earthside with having trouble nursing. But on we pressed. He is my 3rd so I had it down pretty well by that point, even with the extra challenges thrown in. But he slept too much, lost too much weight, had trouble figuring out how to even suck. I …
Present Day: The Quest for More Answers
Currently, Finnian, Christopher, and myself will be undergoing what is called a trio genetics test to look for inborn errors of metabolism or mitochondrial disease. This genetics test is much more detailed than what he's had previously. It will be symptom-driven and comb through his (and our) DNA for any genes that are known to …
What’s in a Diagnosis?
In my first entry I touched on the fact that the 1q21.1 microdeletion diagnosis, or the discovery of Finnian’s genetic copy number variant, is not really a diagnosis in itself (though I often call it that for simplicity’s sake). It’s merely a guide, a path. Not even a map. Yes, gene maps exist, but because …
6 years into the Journey
Bringing everyone into our story six years into it is no easy feat. There's a LOT of catching up to do. So, let me just start by backing it up to when Finnian, our 3rd son out of 4, who is now 6 and a couple months old, was diagnosed with 1q21.1. Before that diagnosis …
Finnian’s Rainbow: Our Journey with 1q21.1 Microdeletion 