The Diagnosis

“Accept the things to which fate binds you, and love the people with whom fate brings you together, but do so with all your heart.”

Marcus Aelius Aurelius

Natalie belly laughed and giggled at toys falling through the bars of her metal institutional crib or water splashing her in the face when her tiny hands slapped the water in the shallow stainless steel sink that smelled of Betadine (antiseptic). There is truly “beauty all around” when there is love. Part of everyday was spent in the Prouty Garden at the heart of Boston Children’s Medical Center. We would sit and watch the visitors of other children play tag as their bouts of laughter echoed between the walls. It is still a green sanctuary surrounded by brick and mortar.

As long as Natalie’s blood sugar levels were maintained within normal limits, life was good. I started being conscious of taking deep cleansing breaths for the first time in months.

I don’t recall how long it was before I found out the liver biopsy confirmed that Natalie had Glycogen Storage Disease 1a (GSD1a). I do remember it was not at some formal meeting in one of those dingy windowless rooms that so often exist in old hospitals. The diagnosis just put a label on the symptoms I had been dealing with for months.

There was now DNA evidence that confirmed Natalie Ann Tremelling had GSD. She was not blessed with glucose 6-phosphatase, the enzyme that breaks down glycogen to liberate glucose into the bloodstream. This is a crucial function of the liver called glycogenolysis. It is one of the metabolic pathways of the body that allows people to sleep all night without eating, to play sports, ride a bicycle, or do anything that requires energy. If you haven’t eaten the body detects a need and goes into action to supply the “sugar” your brain and body needs without any conscious effort on your part…unless the system is broken.

Adjusting to the gastrostomy ended up being simple, but not trouble free. It looked sore for a while and I projected my uncomfortable feelings about it onto Natalie. I was careful about how I picked her up and what clothes she wore. After the tissue healed she hardly took notice. It was like a mouth or belly button….exploring it at first, than accepting it as a part of her. The tube made life manageable and my understanding of how to care for Natalie was in its infancy, but we were ready to go home.

Lesson Learned: Acceptance isn’t a choice if you want to move on.

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