My name is Allison Gauvin, I am 26 years old. I have been married to Ben since July of 2009. We have four children: Julia (6 years old), Beckett (3 years old), Clementine (2 years old), and Wilbur (8 months old). I stay home full time to care for my children, Ben is in the Army National Guard and works at a nursing home.
Ben and I carry the same mutated recessive gene. The odds of our children inheriting this defective gene is one in four, in actuality two out of four of our children inherited this. Ben and I did not know that we carried this gene or that any of our children would be born with these conditions. This mutation causes metabolic acidosis mimicking pyruvate carboxylase deficiency (their bodies cannot complete the Krebs cycle or urea cycle which causes lactic acid and ammonia buildup in the bloodstream), and leukodystrophy (white matter brain degeneration-causing global developmental and physical delays). As of today, Beckett and Clementine are the only two children we know of with both of these conditions who are living. We are not sure where exactly the gene is mutated and therefore cannot test for it in utero. There is no treatment and therefore no cure. These two diseases are degenerative and fatal.
In September of this year, Ben and I decided as a family to take both Beckett and Clementine home on hospice/palliative care. Since July of 2013, Beckett has been admitted six times, spending a total of fifteen weeks, to the ICU/ICP at Boston Childrens Hospital. Clementine was admitted twice since July of 2014, spending a total of seven weeks in the ICU/ICP at Boston Childrens Hospital. Right before their second birthdays, both children started having episodes of hyperammonemia (the ammonia in their bloodstream and brain skyrockets to over 700) requiring emergency hemodialysis. Beckett and Clementine were becoming very unstable, falling into crisis frequently and without warning. Doctors had no answers for us, there have always been what-ifs and maybes, but as of late the bandaids we had been applying were not holding. The medicines we had given in the past, stopped working. We couldn't keep any of their electrolytes in balance, to fix one problem we had to make another worse. We were spending a lot of time in the hospital trying to figure out what was happening, going to doctors appointments (over fifteen different specialists) and therapies (PT-three times a week, OT-three times a month, speech-three times a week). I watched as IVs were drilled into my children's calves, catheters the diameter of rigatoni put into their necks, bag after bag of blood pumped into their bodies. Ben and I had to consider our entire family, Beckett and Clementine were increasingly weaker after each admission, and Julia and Wilbur were uprooted for weeks at a time. Modern medicine could do no more for us, so we arranged to come home. To be home and stay home.
We spent two weeks learning how to care for Beckett and Clementine as they had acquired many fancy new accessories. New medicines, new pumps, and a new plan. An end of life plan. Then we journeyed home.
We were readying to go on our first family vacation with Make-A-Wish to Disney World. The morning before we were supposed to drive down in an RV, Clementine passed away. It was beautiful and heartbreaking. Ben was holding her, I rubbed her little toes. Minnie wore polka dot pjs and her ladybug earrings. It was as peaceful and perfect as we could have hoped for. Clementine had only been home for ten days. We decided as a family to continue on our vacation, we disconnected from the world and focused on each other. It was spectacular and provided the crucial first steps we needed to start healing.
We have been home now for over two months, Clementine had her first haircut, we baptized Wilbur, our last photos as a family of six were taken, Beckett had his first day of school. We hold each day so gently now, we take the moments as they come. There is so much unknown in front of us, we are in a constant state of waiting. Waiting for Beckett's time to go, waiting for the heartache to lessen. I feel as though I am always wearing a wet blanket and some times it feels heavier than others. I am reminded everyday of the child I lost and of the child I am losing, almost to the point of suffocation. In those days, I am so glad for Julia and Wilbur. I have to hold on and push forward for them. Not every life is meant to be long, it's meant to be awesome. This is our "normal" and I have come to learn that nothing is wrong with that. I know we made the right choice for our family, though it did not come easily. We have walked this road for three years, this season in our lives is coming to a close. I do not know what waits for us on the other side of this, but I will forever be grateful for patience and love that we have learned.
To watch our little ones thrive, follow me on Instagram at @allisonkate
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