this is something else.”
“Like what? You talked to Dr. Davis. He already tested me for every cause of dementia you could come up with.”
“Look, I think you jumped the gun going to see a neurologist. He looks at your set of symptoms and sees Alzheimer’s, but that’s what he’s trained to see, it doesn’t mean he’s right. Remember when you hurt your knee last year? If you’d gone to see an orthopedic surgeon, he would’ve seen a torn ligament or worn cartilage, and he would’ve wanted to cut you open. He’s a surgeon, so he sees surgery as the solution. But you just stopped running for a couple of weeks, you rested it, took ibuprofen, and you were fine.
“I think you’re exhausted and stressed, I think the hormonal changes from menopause are wreaking havoc on your physiology, and I think you’re depressed. We can handle all of these, Ali, we just have to address each one.”
He sounded right. It wasn’t likely that someone her age would have Alzheimer’s disease. She was menopausal, and she was exhausted. And maybe she was depressed. That would explain why she didn’t push back on her diagnosis harder, why she didn’t fight to the teeth against even the suggestion of this doomed fate. It certainly wasn’t characteristic of her. Maybe she was stressed, tired, menopausal, and depressed. Maybe she didn’t have Alzheimer’s disease.
Thursday:
7:00, Take your morning medications
Complete Psychonomic review
11:00, meeting with Dan, my office
12:00, Lunch Seminar, room 700
3:00, Genetic counselor appointment (John has info)
8:00, Take your evening medications
Stephanie was sitting behind her desk when they came in, but this time, she didn’t smile.
“Before we talk about your results, is there anything you’d like to review about any of the information we went over last time?” she asked.
“No,” said Alice.
“Do you still want the results?”
“Yes.”
“I’m sorry to tell you, Alice, you’re positive for the PS1 mutation.”
Well, there it was, absolute proof, served straight up, no sugar, no salt, no chaser. And it burned all the way down. She could go on a cocktail of estrogen replacement, Xanax, and Prozac and spend the next six months sleeping twelve hours a day at Canyon Ranch, and it wouldn’t change a thing. She had Alzheimer’s disease. She wanted to look at John, but she couldn’t will herself to turn her head.
“As we talked about, this mutation is autosomal dominant; it’s associated with certain development of Alzheimer’s, so this result fits with the diagnosis you’ve already received.”
“What’s the lab’s false positive rate? What’s the name of the lab?” asked John.
“It’s Athena Diagnostics, and they cite a greater than ninety-nine-percent accuracy level of detection for this mutation.”
“John, it’s positive,” said Alice.
She looked at him now. His face, normally angular and determined, appeared slack and unfamiliar to her.
“I’m sorry, I know you were both searching for a way out of this diagnosis.”
“What does this mean for our children?” asked Alice.
“Yes, there’s a lot to think about there. How old are they?”
“They’re all in their twenties.”
“So we wouldn’t expect any of them to be symptomatic yet. Each of your children has a fifty percent chance of inheriting this mutation, which has a one hundred percent chance of causing the disease. Presymptomatic genetic testing is possible, but there’s a lot to consider. Is this something they’ll want to live with knowing? How would it change their lives? What if one of them is positive and one is negative, how will that affect their relationship with each other? Alice, do they even know about your diagnosis?”
“No.”
“You might want to think about telling them soon. I know it’s a lot to unload all at once, especially since I know you’re both still absorbing it yourselves. But with a progressive illness like this, you can lay
“Like what? You talked to Dr. Davis. He already tested me for every cause of dementia you could come up with.”
“Look, I think you jumped the gun going to see a neurologist. He looks at your set of symptoms and sees Alzheimer’s, but that’s what he’s trained to see, it doesn’t mean he’s right. Remember when you hurt your knee last year? If you’d gone to see an orthopedic surgeon, he would’ve seen a torn ligament or worn cartilage, and he would’ve wanted to cut you open. He’s a surgeon, so he sees surgery as the solution. But you just stopped running for a couple of weeks, you rested it, took ibuprofen, and you were fine.
“I think you’re exhausted and stressed, I think the hormonal changes from menopause are wreaking havoc on your physiology, and I think you’re depressed. We can handle all of these, Ali, we just have to address each one.”
He sounded right. It wasn’t likely that someone her age would have Alzheimer’s disease. She was menopausal, and she was exhausted. And maybe she was depressed. That would explain why she didn’t push back on her diagnosis harder, why she didn’t fight to the teeth against even the suggestion of this doomed fate. It certainly wasn’t characteristic of her. Maybe she was stressed, tired, menopausal, and depressed. Maybe she didn’t have Alzheimer’s disease.
Thursday:
7:00, Take your morning medications
Complete Psychonomic review
11:00, meeting with Dan, my office
12:00, Lunch Seminar, room 700
3:00, Genetic counselor appointment (John has info)
8:00, Take your evening medications
Stephanie was sitting behind her desk when they came in, but this time, she didn’t smile.
“Before we talk about your results, is there anything you’d like to review about any of the information we went over last time?” she asked.
“No,” said Alice.
“Do you still want the results?”
“Yes.”
“I’m sorry to tell you, Alice, you’re positive for the PS1 mutation.”
Well, there it was, absolute proof, served straight up, no sugar, no salt, no chaser. And it burned all the way down. She could go on a cocktail of estrogen replacement, Xanax, and Prozac and spend the next six months sleeping twelve hours a day at Canyon Ranch, and it wouldn’t change a thing. She had Alzheimer’s disease. She wanted to look at John, but she couldn’t will herself to turn her head.
“As we talked about, this mutation is autosomal dominant; it’s associated with certain development of Alzheimer’s, so this result fits with the diagnosis you’ve already received.”
“What’s the lab’s false positive rate? What’s the name of the lab?” asked John.
“It’s Athena Diagnostics, and they cite a greater than ninety-nine-percent accuracy level of detection for this mutation.”
“John, it’s positive,” said Alice.
She looked at him now. His face, normally angular and determined, appeared slack and unfamiliar to her.
“I’m sorry, I know you were both searching for a way out of this diagnosis.”
“What does this mean for our children?” asked Alice.
“Yes, there’s a lot to think about there. How old are they?”
“They’re all in their twenties.”
“So we wouldn’t expect any of them to be symptomatic yet. Each of your children has a fifty percent chance of inheriting this mutation, which has a one hundred percent chance of causing the disease. Presymptomatic genetic testing is possible, but there’s a lot to consider. Is this something they’ll want to live with knowing? How would it change their lives? What if one of them is positive and one is negative, how will that affect their relationship with each other? Alice, do they even know about your diagnosis?”
“No.”
“You might want to think about telling them soon. I know it’s a lot to unload all at once, especially since I know you’re both still absorbing it yourselves. But with a progressive illness like this, you can lay
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