Proteus

A seven year old sits at the table, eyes down, playing half heartedly with the years old toys populating the clinic room. His father sits to his side, less nervous than confused, knowing only that something weird was happening. His son had been born with some physical alterations, a misformation here, a port-wine stain there. He had surgery to correct the damage as an infant, and the doctors had assured him that these things just happen. No reason to read into it.

As he grew, the port wine stain expanded. Beyond that, they started to notice his right arm was becoming substantially larger than his left. He began to overbalance, a seven year old with popeye's right hook, the difference unexpected enough to require a double take.

Before we walked in the door, the doctor had been worried about Proteus syndrome. A disease of widespread physical remodeling and tumor formation, Proteus syndrome drives your bones and soft tissue to grow in bizarre, abnormal fashions. They can be as simple as massive lumps, or enlargements, or as complicated as actually forming new structures, new and functionless appendages. We theorize this was the disease the Elephant Man had. She had been worried about that, out in the hall. A disfiguring and fatal disease, and one we can do nothing about.

When we walked in the door, her face brightened subtly. This boy had problems, but they weren't big problems. The enlarged arm and vascular port wine stains over his body read more of Klippel-Trenaunay-Weber syndrome (KTS), a disease of vascular malformations leading to the development of stains and unilateral limb enlargement. We run through the physical just to make sure, feeling for tumors and growths. He is unremarkable, save for the arm. I assemble a literature packet about KTS to hand to them, all the while wondering if I would ever actually see a case of Proteus, and wondering about my sanity for wanting to.

Sweet Pee

The truck slams into the wall over and over again, grasped firmly in the hyperactive hands of an overly energetic six year old boy. His declarations of a monster in the room have driven the putative occupants of the truck mad with fear, and his attempts to lead them into safety end only in repetitive disaster. His mother brought him in years ago, referred by a pediatrician after an offhanded comment. It's how most of them come to the genetics clinic, always for the subtle things. The major things get caught at birth, as they are usually sort of hard to miss.

She had remarked that her infant's urine smelled sweet. Smelled like maple syrup. Thats not normal, she probably asked, assuming, like most new mothers, that the Doctor would reassure her. But they didn't reassure her. They sent her here. Her son has Maple Syrup Urine Disease, the aptly named syndrome describing an enzymatic failure leading the urine to reek of a thousand McGriddles. Her child is missing a functional copy of the less fortuitously (but equally aptly) named branched chain alpha keto-acid dehydrogenase complex, the enzyme allowing us to break down the amino acids leucine, isoleucine, and valine. Her son can't clear these compounds (readily found in most protein) from his body, so they build up, increasing quantities generating neurotoxicity, neurotoxicity causing brain damage. Unmonitored, a healthy diet will leave her son mentally damaged, a slowly developing crescendo of diminished function.

It is one of the classic metabolic disorders, trailing only phenylketonuria in commonality. We don't know how it was missed in the neonatal screen, but its a great development that they caught it as soon as they did. Her son will be normal, so long as he watches his diet, staying away from milk, meat, and eggs. We have to test his blood frequently, monitoring the buildup of these normally crucial building blocks. Its a wonder, at age six, that he doesn't hate these visits more, the cruel men and women in the white coats, controlling his life and sticking him with needles. His mother, on the other hand, looks to us for quiet reassurance. She is doing her job well, we tell her. She is giving her son the chances he needs.

It most be odd, I think, to dread the smell of pancakes.

A Growing Boy

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.