Kamie (3
Sep 2012)
"Baby A update -
Alper's Disease"
Dear Doves, following is an update from my brother. We are heart
broken but not giving up hope!
Results are preliminary, but nearly certainly accurate, that
dear Auden suffers from an extraordinarily rare genetic disorder
known as Alpers disease. Alpers is a rare genetic defect that
few carry, and requires 2 carriers as parents, and for affected
dna to combine at conception. All of those crazy things
happened, and before we even knew he existed, Auden had it. The
disorder affects the cells' ability to replicate properly the
mitochondrial DNA - which is the "engine" of each cell. So, as
the child grows, he outstrips his limited ability to supply
energy to his growing and multiplying cells. It is especially
cruel, because it allows months or sometimes years of perfectly
normal life before it manifests. (On the other hand, we are so
grateful we had 9 months of perfectly normal babyhood in which
to enjoy him, and wouldn't trade a day of that.) Little Auden
was growing so rapidly and potently, that his cells couldn't
keep up the pace. It affects the brain first because that's
where most of the electrical energy in the body is needed. It is
progressive, largely untreatable and fatal. Prognosis is from
days to maybe a few years. Unless the seizures abate, it is
probably very short term for Auden who may have already suffered
too much brain damage to stabilize.