Max Randell smiles at his middle school graduation.
The excerpt below supplements the blog entry that is beneath it and also at Public Library of Science. It is from The Forever Fix: Gene Therapy and the Boy Who Saved It, (St. Martin's Press, 2012).
I sat at a table with Paola, Mike, Max and Max’s charming little brother Alex, who was eight going on twenty-eight. While the adults ate chicken alfredo (except for vegetarian Paola) and the kids downed chicken fingers and fries, Mike leaned over Max, pulled up his shirt, and deftly attached a bag of cream-colored stuff to the feeding tube coming from his son’s stomach, holding it aloft for the food to go in. At the front of the ballroom, Ilyce, svelte in a shimmering blue gown, was getting ready for her annual thank-you.
Max was finishing his meal when Ilyce, looking across the room at him, began. “Becoming thirteen is a monumental day. Max is a happy and wonderful boy. He was diagnosed March 6, 1998, when he was four months old.” As she recounted the story of the two gene therapies, Max watched her intently, coughing and gurgling a little bit. Then Ilyce could no longer hold in her emotions. “Maxie, you are my treasure,” she said to him as tears streamed. The boy’s face mirrored hers, and suddenly he was sputtering and gasping, reacting viscerally to her words. Mike settled Max down enough to listen to Alex, who spoke next. The boy, wearing a suit like his brother, took the microphone and read his prepared speech. The grin that had been perpetually splashed across his face vanished as he talked seriously about the things he likes to do with Max. He ended, “Max, even with Canavan, is the greatest brother ever. I love Max very much.”
After the speeches, Mike wheeled Max from the ballroom and maneuvered him out of the chair and settled him on Peggy’s lap, where he lay limply. Peggy gently held his head as Max smiled up at her and said “aaahhh.” It was clear that the two have a very special relationship.
“You’re first of my five grandchildren, all boys,” she said to him, then looked at me. “Can I tell her our games? How about ‘What if everyone was in a wheelchair?’ or ‘Let’s think of a color.” Peggy thought a minute, then slowly named colors. Max blinked a yes when she named the one he thought she was thinking about. Then Alex popped over for a visit and Peggy drew him into a two-boy bear hug. Max grinned again, as he always does around his little brother. “Max loves when I read him Harry Potter,” Alex said. Then he checked the cell phone peeking out of his pocket and was off in a dash, joining the other kids running around.
……………………………………………………………………………………………
Meeting Max had a profound effect on me. Like Paola Leone, I sensed that these kids are as whole, cognitively, as any other kid. Yet at the same time, the physical limitations brought to mind Christopher Pike, the fictitious first captain of the Starship Enterprise in the original pilot episode of the television series Star Trek. Captain Pike had sustained such severe injuries that he was completely unable to move, and communicated by directing his brainwaves to turn a light on, with one flash signaling “yes” and two flashes “no.” Captain Pike’s captors used technology to create an illusionary existence in which he was healthy. We’re not there yet.
Until meeting Max, and especially because I write biology textbooks, I had thought of Canavan disease, adrenoleukodystrophy, ornithine transcarbamylase deficiency and the hundreds of other unpronounceable horrors, the so-called inborn errors of metabolism, as just that – blocked pathways and cycles of biochemical reactions. Paola Leone lapses into bio-speak too. At dinner she talked about N-acetyl aspartic acid, the second most abundant amino acid derivative in the brain after glutamate. It is what floods the urine of a little Canavan baby who can’t keep her head up or look her parent in the eye.
Max, Lindsey, Jacob, Lana and the others are not just the consequences of biochemistry gone awry. They are loving individuals who bring joy as well as heartache to their families. For some of these awe-inspiring parents, what keeps them going, day after day, is the feeling that they were somehow chosen to shepherd these special children through their time here. Sometimes that makes more sense to me than the chemistry behind a
I sat at a table with Paola, Mike, Max and Max’s charming little brother Alex, who was eight going on twenty-eight. While the adults ate chicken alfredo (except for vegetarian Paola) and the kids downed chicken fingers and fries, Mike leaned over Max, pulled up his shirt, and deftly attached a bag of cream-colored stuff to the feeding tube coming from his son’s stomach, holding it aloft for the food to go in. At the front of the ballroom, Ilyce, svelte in a shimmering blue gown, was getting ready for her annual thank-you.
Max was finishing his meal when Ilyce, looking across the room at him, began. “Becoming thirteen is a monumental day. Max is a happy and wonderful boy. He was diagnosed March 6, 1998, when he was four months old.” As she recounted the story of the two gene therapies, Max watched her intently, coughing and gurgling a little bit. Then Ilyce could no longer hold in her emotions. “Maxie, you are my treasure,” she said to him as tears streamed. The boy’s face mirrored hers, and suddenly he was sputtering and gasping, reacting viscerally to her words. Mike settled Max down enough to listen to Alex, who spoke next. The boy, wearing a suit like his brother, took the microphone and read his prepared speech. The grin that had been perpetually splashed across his face vanished as he talked seriously about the things he likes to do with Max. He ended, “Max, even with Canavan, is the greatest brother ever. I love Max very much.”
After the speeches, Mike wheeled Max from the ballroom and maneuvered him out of the chair and settled him on Peggy’s lap, where he lay limply. Peggy gently held his head as Max smiled up at her and said “aaahhh.” It was clear that the two have a very special relationship.
“You’re first of my five grandchildren, all boys,” she said to him, then looked at me. “Can I tell her our games? How about ‘What if everyone was in a wheelchair?’ or ‘Let’s think of a color.” Peggy thought a minute, then slowly named colors. Max blinked a yes when she named the one he thought she was thinking about. Then Alex popped over for a visit and Peggy drew him into a two-boy bear hug. Max grinned again, as he always does around his little brother. “Max loves when I read him Harry Potter,” Alex said. Then he checked the cell phone peeking out of his pocket and was off in a dash, joining the other kids running around.
……………………………………………………………………………………………
Meeting Max had a profound effect on me. Like Paola Leone, I sensed that these kids are as whole, cognitively, as any other kid. Yet at the same time, the physical limitations brought to mind Christopher Pike, the fictitious first captain of the Starship Enterprise in the original pilot episode of the television series Star Trek. Captain Pike had sustained such severe injuries that he was completely unable to move, and communicated by directing his brainwaves to turn a light on, with one flash signaling “yes” and two flashes “no.” Captain Pike’s captors used technology to create an illusionary existence in which he was healthy. We’re not there yet.
Until meeting Max, and especially because I write biology textbooks, I had thought of Canavan disease, adrenoleukodystrophy, ornithine transcarbamylase deficiency and the hundreds of other unpronounceable horrors, the so-called inborn errors of metabolism, as just that – blocked pathways and cycles of biochemical reactions. Paola Leone lapses into bio-speak too. At dinner she talked about N-acetyl aspartic acid, the second most abundant amino acid derivative in the brain after glutamate. It is what floods the urine of a little Canavan baby who can’t keep her head up or look her parent in the eye.
Max, Lindsey, Jacob, Lana and the others are not just the consequences of biochemistry gone awry. They are loving individuals who bring joy as well as heartache to their families. For some of these awe-inspiring parents, what keeps them going, day after day, is the feeling that they were somehow chosen to shepherd these special children through their time here. Sometimes that makes more sense to me than the chemistry behind a