The human body is an amazing system, when you really stop to think about it. Just taking a breath takes millions of processes—from chemical reactions to mechanical activities and more—working perfectly together.
It’s easy to take it for granted until something goes wrong, as many of the rare disease community know all too well.
So many things need to line up and interact just right for the body to function optimally.
Small changes in any one of those things can have a big impact. As the video below shows, the teeny tiny alveoli in the lungs play an important role in making sure that our brains and heart get the oxygen we need to live.
If the even teensier blood vessels (called capillaries) that cover the alveoli don’t develop just right in utero, it can have dire consequences.
When Genetics = Tragedy
“Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV)” is the official name for the condition in which there are drastically fewer capillaries than necessary in an infant’s lungs. In addition, what capillaries ARE there don’t line up the way they should within the walls of the alveoli.
This happens because of a change in the FOXF1 gene. According to the U.S. National Institute of Health site, FOXF1 produces a protein that’s important in the development of lungs and their blood vessels.
Babies born with ACDMPV may seem fine at birth, but experience untreatable respiratory distress within an hour or the next day. It’s a tragic experience that seems unbearable.
(You can read Stephanie and Freddie Smith’s story of working through this sad, sad event by clicking here.)
It’s Not Your Fault
But “genetic” doesn’t always equate with “inherited.” In other words, although some gene pattern changes get passed down through families, some happen for unknown reasons.
And I hope that is some comfort—however minute—to parents of the babies lost so quickly to ACDMPV.
They probably didn’t “pass on” the gene mutation to their precious infant and their not likely to pass it on to subsequent children.
The Smith family has turned their tragedy into positive energy by, among other things, creating and participating fundraisers to support ACD awareness.