According to the Genetics Home Reference web page, ornithine transcarbamylase deficiency syndrome (OTC deficiency) is a very rare genetic disorder. OTC deficiency is an x-linked disease which causes ammonia to build up in the blood as proteins are broken down. OTC deficiency is caused by a mutation in the ornithine carbamoyltransferase (OTC) gene, and is a urea cycle disorder. “The urea cycle is a sequence of reactions that occur in liver cells. It processes excess nitrogen generated when protein is used by the body, to make a compound called urea, that is excreted by the kidneys ( )”. OTC deficiency occurs when the enzyme that starts a reaction in the urea ...view middle of the document...
Over the next two days he was forced to eat peanut butter, bacon, and milk.
In mid-March 1984, Jesse sat down in front of the television to watch Saturday morning cartoons and immediately went back to sleep. When his parents couldn't wake him, the called his doctor and rushed him to the hospital where he was admitted in what the emergency room termed a first stage coma. In a first stage coma, the patient responds to stimuli, but will not wake. Tests were taken, and it was discovered that there were high amounts of ammonia in Jesse's blood. Since he has suffered through a cold earlier in the month, the initial diagnosis was Reye's Syndrome. Follow up tests revealed that it was not Reye's Syndrome after all and another round of tests were run. In less than a week, it was determined that Jesse was actually suffering from ornithine transcarbamylase deficiency syndrome. Considered mild, Jesse's form was controllable by diet and medication. Eleven days later, Jesse was released from the hospital, and his parents began monitoring everything he ate and made sure his medicine was taken.
Although small for his age, Jesse progressed relatively normally. At ten, following a weekend of eating more protein than his system could process, Jesse would again slip into a coma after his system could not rid itself of the ammonia buildup quickly enough. Five days later, Jesse returned home without having suffered any noticible neurological damage.
By the age of sixteen, Jesse was taking fifty pills a day, and while he wasn't always diligent, he was growing into adulthood. In September 1998, Jesse's specialist informed them of a gene therapy, clinical trial, being done by a well known Philadelphia medical facility. Although interested, Jesse would have to be an adult to participate. That fall, unbeknownst to his father, Jesse was having symptoms and hiding. As a senior in high school, he had a part time job, a dirt bike, and a very busy schedule. He was taking his medicine sporadically, and he had to nearly die to start taking his health seriously.
On December 22, 1998, his father arrived home to find Jesse vomiting and unable to keep his medications down. He was hospitalized and placed on I.V., his ammonia levels were six times the normal level. Even though there was no improvement in his condition, he was released from the hospital on Christmas Eve, and sent home for Christmas. Jesse crashed that evening, and when readmitted, it was discovered that his blood sugar was dangerously low. Jesse's specialist believed that the hypoglycemia was caused by I-arginine, one of his medicines. He was taken off of this medication, and because his doctor felt that his primary medicine, (sodium benzoate), was not adquetly controlling his disease, he ordered a newer medication. A couple of days after Christmas, Jesse again began vomiting and was rushed back to the hospital. On Monday morning it was...