talking to other parents when she is around.
A few months before I met them, Penny had a problem. The Boyds were at an amusement park. The lads were watching the orcas do their thing, when a wave overshot the side and splashed the front rows. Children went screaming and giggling up into the stands looking for cover, all except Penny, who lay on the concrete floor in convulsions. She had suffered a seizure of some kind. Doris and Frank
raced her to the hospital, where doctors conducted a series of tests and held her for observation. After no further recurrences, the doctors were at a loss.
They released her, but told her parents it was possible that Penny had epilepsy.
They were wrong.
Over the next few months, Penny began to show disturbing signs of withdrawal.
She had always been an outgoing child with strong social skills, and quick to learn. Now she began to regress, to turn inward. She stopped playing with other children and began having difficulties with her studies. Teachers identified her as having what they termed learning disabilities. The family tried a private tutor, but the problem got worse. They took her to the family doctor, a pediatrician who had cared for all three of the Boyd children since birth. He was stumped.
Penny ended up at the university medical center for a battery of tests. A specialist finally found the answer. Penny Boyd had Huntingtons chorea, a hereditary disease that strikes the brain and central nervous system. In time, it results in loss of brain tissue, an inability to control muscles and, ultimately, death. The only positive aspect of the disease is that it rarely strikes children. Penny was the exception.
It is likely that she might never have been diagnosed, except for the fact that recent advances in genetic medicine had resulted in a diagnostic test for Huntington's disease.
In the last year I have learned more about the genetics of Huntington's disease than I ever wanted to know. The mutation of the gene that causes the disease resides on chromosome 4. A total absence of the gene results not in Huntington's disease, but another deadly ailment, Wolf-Hirschhorn syndrome. This kills its victims at an even younger age.
Life is an alphabet soup made up of only four letters: A'CC'G and T You would think this could get boring. Instead, it has led to a code of life more complex than any cipher crafted by supercomputers at the National Security Agency.
The four molecules, adenine, cytosine, guanine and thy mine produce amino acids.
These in turn give rise to proteins, which lead to enzymes. The enzymes carry out the necessary functions of chemistry to sustain life on the planet.
When the intricacies of chromosome 4 were finally untangled, what scientists found was that C'AA'G, three of the four letters of life, were repeated in a kind of chemical poetry on the chromosome. It is the number of repetitions in that sonata that determined the fate of Penny Boyd.
If the word CAG were repeated ten times or twenty times or even thirty times, she would be fine. But spin the wheel and come up thirty-nine times or more, and Nature cleans the table in life's bet--you lose.
It gets worse. In a kind of bizarre formula that is both precise and unforgiving, geneticists can now determine with near precision exactly when you will get the disease. We may now learn things we don't want to know. Get fifty repetitions and at age twenty-seven you will grow unsteady on your feet, begin to lose your intellectual abilities, be confronted by uncontrollable palsy of your limbs and slowly lose your mind. In Penny's case she has more than seventy repetitions.
Until recently, all this, who got Huntingtons disease and who escaped, had been viewed as some unfathomable mystery, an accident of fate. Now we know what causes the problem, but we can't fix it. Perhaps ignorance is bliss.
The Boyds are now faced with the question of whether it is better to live in ignorance or to have the other children tested. So
A few months before I met them, Penny had a problem. The Boyds were at an amusement park. The lads were watching the orcas do their thing, when a wave overshot the side and splashed the front rows. Children went screaming and giggling up into the stands looking for cover, all except Penny, who lay on the concrete floor in convulsions. She had suffered a seizure of some kind. Doris and Frank
raced her to the hospital, where doctors conducted a series of tests and held her for observation. After no further recurrences, the doctors were at a loss.
They released her, but told her parents it was possible that Penny had epilepsy.
They were wrong.
Over the next few months, Penny began to show disturbing signs of withdrawal.
She had always been an outgoing child with strong social skills, and quick to learn. Now she began to regress, to turn inward. She stopped playing with other children and began having difficulties with her studies. Teachers identified her as having what they termed learning disabilities. The family tried a private tutor, but the problem got worse. They took her to the family doctor, a pediatrician who had cared for all three of the Boyd children since birth. He was stumped.
Penny ended up at the university medical center for a battery of tests. A specialist finally found the answer. Penny Boyd had Huntingtons chorea, a hereditary disease that strikes the brain and central nervous system. In time, it results in loss of brain tissue, an inability to control muscles and, ultimately, death. The only positive aspect of the disease is that it rarely strikes children. Penny was the exception.
It is likely that she might never have been diagnosed, except for the fact that recent advances in genetic medicine had resulted in a diagnostic test for Huntington's disease.
In the last year I have learned more about the genetics of Huntington's disease than I ever wanted to know. The mutation of the gene that causes the disease resides on chromosome 4. A total absence of the gene results not in Huntington's disease, but another deadly ailment, Wolf-Hirschhorn syndrome. This kills its victims at an even younger age.
Life is an alphabet soup made up of only four letters: A'CC'G and T You would think this could get boring. Instead, it has led to a code of life more complex than any cipher crafted by supercomputers at the National Security Agency.
The four molecules, adenine, cytosine, guanine and thy mine produce amino acids.
These in turn give rise to proteins, which lead to enzymes. The enzymes carry out the necessary functions of chemistry to sustain life on the planet.
When the intricacies of chromosome 4 were finally untangled, what scientists found was that C'AA'G, three of the four letters of life, were repeated in a kind of chemical poetry on the chromosome. It is the number of repetitions in that sonata that determined the fate of Penny Boyd.
If the word CAG were repeated ten times or twenty times or even thirty times, she would be fine. But spin the wheel and come up thirty-nine times or more, and Nature cleans the table in life's bet--you lose.
It gets worse. In a kind of bizarre formula that is both precise and unforgiving, geneticists can now determine with near precision exactly when you will get the disease. We may now learn things we don't want to know. Get fifty repetitions and at age twenty-seven you will grow unsteady on your feet, begin to lose your intellectual abilities, be confronted by uncontrollable palsy of your limbs and slowly lose your mind. In Penny's case she has more than seventy repetitions.
Until recently, all this, who got Huntingtons disease and who escaped, had been viewed as some unfathomable mystery, an accident of fate. Now we know what causes the problem, but we can't fix it. Perhaps ignorance is bliss.
The Boyds are now faced with the question of whether it is better to live in ignorance or to have the other children tested. So
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