On Ben’s maternal side of the family is a history of cleft lip and palate, every pregnancy at 20 weeks I would undergo an anatomy scan to check for signs of this treatable condition. With Beckett’s pregnancy we saw no signs of cleft lip and palate, but there were minor issues. At first, his kidneys were retaining fluid (hydronephrosis) just enough to land him on the higher end of the normal range. Then he began to show signs of growth restriction (IUGR). At 36 weeks, Beckett stopped growing all together. The doctors had no suggestions or ideas what could be the cause of this, instead I was told over and over that everything would be fine, don’t worry.
We never knew, not until almost a day after our second child was born, that Ben and I most likely carry the same mutated recessive gene. This means that our children have a 1 in 4 chance of inheriting metabolic acidosis mimicking pyruvate carboxylase deficiency. Pyruvate carboxylase deficiency is when the mitochondria cannot complete the essential role of turning glucose into energy. PC deficiency also allows the buildup of toxic levels of lactic acid and ammonia, leading to organ damage.
Beckett and Clementine DID NOT have pyruvate carboxylase deficiency, as a family we were entered into an orphan disease research center (Manton Center) and we found the PC gene was not mutated, but their metabolic acidosis was very similar to PC deficiency. PC deficiency has two variations, type B is diagnosed in infancy and the prognosis is death within 3 to 6 months of life.
Beckett and Clementine were not given a very long lifespan, maybe a week, then maybe a couple of months at most, and we were told they would be “severely retarded.” Ben and I learned quickly that they would surpass the ceiling others had built over them. With a lot of therapies, Beckett and Clementine learned to sit and stand, they could babble and smile like crazy, their little fingers were constantly reaching and grabbing.
Their diagnosis was always terminal, and over three years we watched the undoing of our two children as the skills they had begun to master slowly started to slip away from them. Their brains were dying, the white matter wouldn’t regenerate (leukodystrophy), and so eventually they became too sick to do many of the daily activities they loved.
Pictured: Our Minnie’s brain, the right was taken three days after birth and the left was taken the middle of September 2014. This shows perfectly the progression of their brain degeneration. The lobes in the center of the brain are the ventricles, normally filled with fluid. In B & C’s cases, their white matter died giving the ventricles more room and they filled with vast amounts of fluid. The black spot towards the back of Clementine’s brain is pooled blood from a stroke she suffered shortly after birth.