Guinea Pig Zero:
Born on June 18, 1981, Jesse Gelsinger was a real character in a lot of ways. We hadn't picked a name before he was born, but the name Jesse came to us three days later. When considering a middle name, we pondered James, but decided that just Jesse was enough for this kid. His infancy was pretty normal. With a brother 13 months his senior he was not overly spoiled. He crawled and walked at the appropriate ages. When he started talking, it quickly became obvious that this was one kid that would speak his mind and crack everybody up. He nursed until he was nearly two years old. It wasn't until he was about 2 years and 8 months old that his metabolic disorder reared its ugly head. Jesse had always been a very picky eater. Since weaning, he increasingly refused to eat meat and dairy products, focusing instead on potatoes and cereals. After the birth of his sister in January, 1984, and following a mild cold earlier that March, Jesse's behavior turned briefly erratic and his speech became belligerent. Since his mother had previously experienced schizophrenic behavior, I was very concerned that Jesse was exhibiting signs of psychosis. My wife Pattie and I took him to see our family doctor. He put Jesse on a high protein diet, thinking his poor diet and lethargy may have lead to anemia. That was actually the worst thing for Jesse's condition; forcing him to eat peanut butter sandwiches, bacon and to drink milk over the next two days overwhelmed Jesse's system.
On a Saturday in mid-March, 1984, Jesse awoke, parked himself in front of the television to watch cartoons, and promptly fell back asleep. We became alarmed when we were unable to rouse him. His mother called the doctor and insisted that we take Jesse to the Children's Hospital of Philadelphia, just across the Delaware River from our home near Woodbury, New Jersey. Upon arrival at CHOP, Jesse was admitted through the emergency room. He was in what they called a first stage coma. He responded to stimuli but would not awaken. After several tests indicated high blood ammonia, the doctor told us that Jesse most probably had Reye's syndrome, which upset us very much. Several hours and more tests later they told us it actually wasn't Reye's, and that more tests were needed. Within a week we had the diagnosis of ornithine transcarbamylase deficiency syndrome (OTC), a very rare metabolic disorder caused by a missing gene that creates a needed enzyme. Jesse's form of the disorder was considered mild and could be controlled by medication and diet.
Jesse came home after eleven days in the hospital, and we watched everything he ate like hawks and made certain he took his medications. From there on Jesse progressed fairly normally, although he was small for his age. It wasn't until he was 10 that he would again need to be hospitalized for his disorder. Following a weekend of too much protein, Jesse's system couldn't rid itself of the ammonia buildup fast enough, and he again slipped into a coma. His specialist had never had to treat hyperammonemia before and scrambled to get him well again. Within five days Jesse was well enough to go home, having suffered no apparent neurological damage.
As Jesse entered his teenage years he resisted taking his medications. He felt that he could control his disorder and only took his meds when he didn't feel well. His mother and I had divorced in 1989, two years after our move to Tucson, Arizona. I had obtained custody of my four children in 1990, so Jesse was under my care. At age 16 Jesse was taking nearly fifty pills a day to control his illness. I had remarried in 1992, and my new wife Mickie and I kept a careful watch on him, but as he grew older we expected him to take more responsibility for his own care. With six children between us we had much to consider. Jesse was being seen at a state-funded metabolic clinic in Tucson twice a year to monitor his development, and while not always compliant, he was progressing into adulthood.
In September, 1998, Jesse's specialist told us of a clinical trial being done at the University of Pennsylvania in Philadelphia. They were working on what he described as "gene therapy" for Jesse's disorder. We were instantly interested, but Jesse needed to be an adult to participate, so he was told he had to wait until he was 18. That same fall Jesse was stressing his metabolism like never before, having recently acquired a part time job and an off-road motorcycle, and as a senior in high school he had a very busy schedule. Jesse was having symptoms of his disorder at the time but was trying to hide them -- he didn't want restrictions placed on him due to his disorder. I knew he was inconsistent in taking his medications because I rarely had to re-order them. I spoke with him every other week about his need to take better care of himself, but it took his nearly dying to wake him up.
On December 22, 1998, I arrived home in mid-afternoon to find Jesse curled up on the couch. A close friend was with him and Jesse was very frightened. He was vomiting uncontrollably and could not hold down his medications. After about five minutes I determined I couldn't manage his recovery and convinced his pediatrician and specialist that Jesse needed to be hospitalized and placed on intravenous fluids. With his ammonia levels at six times normal, Jesse was in trouble. No significant changes occurred in his condition by December 24, so the hospital let him go home for Christmas. Jesse was listless all day and crashed Christmas night. He was admitted to intensive care where they discovered hypoglycemia, or seriously low blood sugar. His specialist felt certain that it was due to one of his medications, l-arginine, and discontinued it. He also decided that Jesse's primary medication, sodium benzoate, was not effective enough and ordered that a newer, better medication be provided.
Jesse recovered well enough to be placed in a regular room at the hospital, but his ammonia levels refused to drop. I stayed in the hospital at Jesse's side day and night. Two days after Christmas, on a Sunday afternoon, Jesse and I had a conversation about how he was doing. It seemed that he was stuck up a tree, I said to him, not knowing whether he was going to climb down or fall out. I went home to be with the rest of my family and sleep in my own bed for one night. Jesse called me at about 11:00 p.m and said, "Dad, I fell out of the tree." He was vomiting uncontrollably again. I rushed back to the hospital and spent a heartrending two days trying to help my son through his crisis. On Monday I learned that the insurance company was balking at new medication payments, so the meds had not been shipped. I told the pharmacist to purchase the new medications with my credit card ($3,300 for one month's supply) and that I would deal with the insurance company later. At that point the insurance company relented and authorized the medications that Tuesday, December 29, but by Tuesday afternoon Jesse was so listless I was afraid he wouldn't get well.
At 5:00 p.m. Jesse's vomiting returned and he became incoherent. I went into the hall for help and found his pediatrician examining his chart. While the pediatrician called in the intensive care doctor I called my wife and told her to come immediately. Jesse's aunt and grandmother arrived for a visit only to find Jesse in a crisis. Mickie arrived and together we held Jesse while they prepared a bed for him in intensive care. The ICU doctor, seeing Jesse's deteriorating condition and believing him mentally impaired, inquired if life support would be appropriate. It was then that I realized these people did not know Jesse at all, and I explained that his lack of mental faculties was not his normal state. Jesse developed tremors and began to vomit, then he just stopped. I whispered to Mickie, "He's still breathing, isn't he?" I asked Jesse's pediatrician to check him. After placing his stethoscope on Jesse's chest for a few moments he looked to the nurse and told her to call a code blue. We were whisked from the room while they intubated and manually ventilated Jesse and then took him to intensive care. We were distraught and believed Jesse was near death. After 15 minutes they indicated that they were getting him under control and that his heart never stopped.[Continued -->]
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