Alisha and Sam Durtschi spent a recent Tuesday morning at their Jerome home, watching television and keeping an eye on their children. Three-year-old Grace played with her kitchen set, and 1-month-old Aedon slept peacefully in a corner basket.
Their oldest son needed the most supervision. Tristan, 4, stayed confined to a red play mat, rolling around and grinning at his parents and sister. Occasionally, he scooted to the edge of the mat and attempted to kick the coffee table. Sam or Alisha dragged him back to the center as he giggled.
Tristan has Lesch-Nyhan syndrome, a genetic condition characterized by self-mutilating behaviors, poor muscle control, moderate mental retardation and kidney malfunctions. The syndrome, caused by the absence of the hypoxanthine-guanine phosphoribosyltransferase (HPRT)enzyme, affects one in 400,000 live births and almost exclusively appears in boys. Boys whose mothers are carriers have a one-in-four chance of having the disease.
His prognosis is grim - most people with Lesch-Nyhan die of kidney failure in the first or second decades of their lives. But it's clear, now that Tristan has a diagnosis and treatment plan, that Alisha and Sam's oldest son is finally enjoying his life.
Tristan first started exhibiting symptoms at 6 months old. The infant was always stiff, but his head flopped over on his neck. He wasn't making major milestones, like sitting up or holding up his head. The boy also scratched at his face, causing deep red gashes on his cheeks and nose.
An initial misdiagnosis of hypertonia and, later, cystic fibrosis, led Tristan's parents and doctors down a wrong path. Cystic fibrosis would explain his inability to sit up or crawl, but not the face scratching.
And that was just the beginning.
As Tristan's two front teeth came in, he started biting his lower lip. His sheets were often soaked with blood, Sam said. Alisha tried to stop the biting with a bandage placed on his lower lip, but Tristan's saliva would make it slip off. The wounds got worse as more teeth came in.
One dentist recommended removing Tristan's four upper teeth to prevent him from biting himself. Wary of such an invasive procedure, Alisha and Sam waited to decide.
The decision didn't come soon enough, however. One night, when Grace was 1 month old, Tristan bit his lip hard enough to tear off a piece. Two nights later, he bit the rest of the lip off, right below the lip line.
"There was blood everywhere, and his lip was gone,"Alisha said.
As Tristan healed, the scar tissue reformed his mouth into a swollen, puckered orifice. As soon as his front four top teeth were removed, he started biting his upper lip with his bottom teeth.
In the next few months, dentists removed all but four back teeth to stop him from shredding his tongue and the inside of his mouth. By the end of the year, those molars were gone, too - but not before he took a chunk out of his tongue.
Tristan also started tearing at his mouth with his hands and continued scratching his face. He would wake up looking like he had road rash because of all the scratches, Sam said.
The self-mutilation wasn't symptomatic of cystic fibrosis, and physicians had no idea how to curb it. Finally, one doctor referred the desperate parents to a geneticist in Salt Lake City.
As soon as the geneticist saw Tristan, Alisha said, she knew he had Lesch-Nyhan syndrome.
Tests confirmed her suspicion, and Alisha and Sam began learning how to manage their oldest son's syndrome. Arm braces keep Tristan from getting his hands to his face, preventing scratches and mouth injuries. A padded high chair keeps him from slamming his head onto hard surfaces. The red mat and constant supervision minimize painful kicks to furniture and appliances. The parents decided against sedating their son - the only drug treatment available for curbing his harmful behavior. High uric acid levels, another symptom of the disease, are controlled with medicine.
Tristan communicates with a limited vocabulary and vivid facial expressions. He says, "mom," "dad,""yeah," "nana" for banana, and "bye bye." He smiles and points when trying to get someone's attention, and likes showing off what he can do, like sitting up by himself and walking with his mom's help.
The parents also found that Tristan can still eat most solid foods with his strong gums.
"He can eat steak,"Sam said, but chips don't go over so well.
What happens when he gets his permanent teeth?Within the next couple of years, the Durtschis plan to take him in for a surgery to have them all removed before they start to come in. Tristan could use even the tiniest teeth buds to slice open his gums and tongue, Alisha said.
He doesn't hurt just himself. He chomps at his mom's fingers, smacks his sister and head-butts his dad. He has torn out chunks of Grace's hair before, Alisha said.
"She always says, 'It's OK, Ihave more,'"Alisha said, mimicking her daughter's tearful response.
Tristan is aware that he is hurting himself, Sam said - the boy can still feel pain and knows that what is about to happen will hurt. He doesn't want to bite or scratch himself, and he really doesn't want to kick and hurt his family. But the compulsion to strike, chomp, smack and tear is just too strong.
On one sitting attempt that recent Tuesday, Tristan got to the edge of the mat, then sat up partially and bashed his head, face-first, on the floor. His face scrunched up in pain, and he looked like he was trying to expel something from his mouth. Alisha moved quickly to get a piece of carpet fuzz off his tongue - if she waited too long, she said, he would throw up.
One of Tristan's tics is a discomfort with fuzzy or hairy textures. If he gets hair in his mouth, he throws up almost immediately. His parents can't give him stuffed animals or furry toys, and Grace knows to keep hers away from him.
Grace also knows that if she gets too close, Tristan will kick her or pull her hair. She has learned to move in quickly for kisses, which make Tristan grin widely.If she wants a hug, she pins him with her tiny limbs, then tackles him.
Their son's syndrome confines the parents to a limited number of baby sitters. The couple trusts only three or four others to watch him. Alisha once saw a therapist get so frustrated with Tristan for head-butting her that the woman slammed him down on a chair and yelled at him.
"And that was a therapist," Alisha said.
Alisha and Sam are still learning how to care for him, too. Alisha just learned the other day that the best way to calm him during a tantrum is by tickling him. Yelling and punishment just makes it worse, Sam said.
Now that they're getting down the pattern, the couple is focusing on 1-month-old son Aedon. Aedon showed high uric acid levels in one test - an indicator that the HPRT enzyme is missing - but another test showed low levels. They're optimistic that Aedon will be Lesch-Nyhan-free.
And they're optimistic about Tristan's quality of life. His disarming grin and wide blue eyes make it clear that, behind the scarred mouth and arm braces, this is one happy 4-year-old.
Melissa Davlin may be reached at 208-735-3234 or email@example.com.
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