She is holding her baby on her lap, straining to handle the size and weight of him. He smiles brightly, staring around the room with the expansive credulity of the very young. Seeing the light shine of my badge, he reaches for it, drool spilling from his lip. It is a sight both icky and delightful, the adorable inattentiveness of infants. He is far to large for his age, six months old and nearly 3 ft tall, with a healthy pudge besides. We are in the genetics clinic, and his mother is clearly worried.
I have been in this room so many times, seen Dr. T deliver so much bad news. I have seen the light die in the eyes of parents as they discover that their child, their almost normal, slightly off child, is afflicted with a disease of developmental delay. Their child will never be normal, never go to college, and never live a completely independent life. It is worse than the fatal diagnoses. The dreams inherent in the birth of a child die in this room, and in their place grows a child that they will struggle to care for, for whom their burden as parents never ends.
This is not one of those days. Her child, the giant, jolly rapscallion currently attempting to masticate my ID, is going to be fine. He has Beckwith-Weidemann syndrome, a genetic disorder of Chromosome 11, causing him to grow vastly faster than his peers. He will reach his full pre-pubertal height by age eight, but as time goes, his curve will approach normal. We will monitor him for heart disease, but once he clears that eight year mark, he will be just as happy and healthy as the next kid.
Her face collapses in relief, her arms tightening reflexively around the overgrown ball of exuberance in her lap. Thank you, she says, as she reaches to shake our hands. Dr. T smiles, the light dancing in her eyes, the weight of thousands of diagnoses removed for a moment. No problem, she says. Its our pleasure.
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