He was listening to the latest reports on the global epidemic. He felt pretty safe where he was. He seldom went out and only had contact with a few of his friends, on an infrequent basis, at the local pub. He did of course, keep up to date on the research his younger associates continued to pursue on Mad Cow disease by way of email. He had heard that the medical community was focused on a genetic solution at this point.
The anchorman had just finished the report by mentioning that the disease was indirectly detectable by six different blood tests, the names of which were available on their website. Interested to find out what tests they were, Alastair when to the TV station’s site and clicked on the link, “Epidemic.”
He read through the list of tests and they seemed vaguely familiar to him, although he wasn’t quite as sharp as he used to be. He went to his bookcase and pulled down one of his files containing some of his original research. Paging through the documents was like taking a stroll down memory lane. His notes were the only existing records of the scientific research done in the early days of the Mad Cow scare, since the other documents and copies had been destroyed due to a fire in the records section of the Ministry of Health building in 2012.
As he flipped through the papers, he came to the section that contained the blood work they had examined. Reading the original lab reports, he started to get excited. Their research had shown a similar spike in abnormal blood tests in the cows. He had wanted to start a testing program, but pressured to find the cause, he and his colleagues had discounted it as unreliable, since the gestation period of the disease was up to eight years long. He remembered that the decision was made to slaughter over 4.4 million cattle just because they couldn’t “take a chance.” He had argued against this, but in the end he was overruled.
He went back to the TV station’s website to see if there were any common tests that were abnormal. One by one, every test on his screen was identified in his research work from 1992. In his humble opinion, the epidemic was likely a result of something similar to Mad Cow disease, a prion protein gene mutation, for which there was no cure. He and his staff had been looking for a cure for almost thirty years now, but with no success. He knew now that anyone infected would die.
Alastair, now excited about his discovery, had to tell someone. He would send his hypothesis to his colleagues at the Ministry of Health and ask them to pass it on. Wanting to make a foolproof argument, he took his time compiling all the facts associated with his conclusion. As he was completing his final proof of the document, he started to feel a bit light-headed. He got up to go to his kitchen to get something to eat. About halfway across the room he collapsed, never to rise again.
It was late afternoon and Katie needed to know how Patti was doing with the tests. “Hi Patti, are any of the retests complete yet?” she asked.
“I have about half of them finished. Do you want me to send you the results?”
“Yes. That would be great so I can start analyzing them. Did you redo Marge’s yet?”
“You kidding me,” said Patti. “It was the first one I did. I will email you the results in about ten minutes.”
Katie waited for what seemed to be an eternity -- in the end it was only seven minutes -- until the email from Patti popped up. She entered the data and started the process. While it was running she looked at Marge’s results. Based on her cursory review, it looked like she would be negative again. Surely this was impossible, she thought.
The results were complete in less than fifteen minutes. Nothing had changed. They were all still positive, except for Marge. She would have to wait for the rest of the samples to be sure, but now she expected them to be unchanged. She was confused by what she was seeing and wished Ben was available to take a look at the data. He might have an explanation.
Katie had provided the initial test results over the phone to the disability specialist who was at the Center examining the staff and students. She wondered if he had discovered anything, and decided to give Rob a call to see how the doctor was getting on.
“Hi Rob,” said Katie. “Did the doctor get there ok?”
“Yes. In fact, he left about thirty minutes ago. After about ten minutes here, he knew what he was looking for and didn’t take more than five minutes with each person. He seemed pretty excited about what he found, but he didn’t share anything with us.”
“The retests are complete, but only about half of your Down syndrome students and staff are negative for the disease. I expected them all to be negative. Marge is also confirmed negative. It just doesn’t make sense,” said Katie. “We may have to segregate the groups at some stage, but I’m not sure yet.”
“Well, I have confidence you’ll figure it out. Sounds like a problem with the tests to me,” said Rob.
“That’s what I thought, but I am trying to rule that out. I’m afraid I am going to be late tonight.”
“That’s alright. You can sleep in the car on the way to our parent’s house tomorrow.”
Katie hung up and called Sarah. “Hi Sarah. Have you heard from the doctor yet?”
“Yes. He is on his way back and expects to be here in about twenty minutes. He is coming straight to my conference room to give me a debrief. He said he has some interesting information. Do you want to join us?”
“I wouldn’t miss it for the world. I’ll be up in about 15 minutes,” said Katie. Maybe there would be some answers in what the specialist found. She could only hope.
Katie and Sarah were sitting in Sarah’s conference room when the doctor arrived. Katie had just briefed Sarah regarding the results of the resampled blood. No change.
“Hi Sarah,” said Dr. Dewitt Clinton.
“Let me introduce you to Dr. Katie McMann. Her husband runs the Center you visited and she is the one who developed the test to identify carriers of SDX,” said Sarah.
“It’s so nice to finally meet you Dr. McMann. I just read about your work and I am very impressed with how you have woven everything together to develop your theory. You know, you’re becoming a bit famous in our medical circles of mere mortals. By the way, your husband is running a magnificent facility. I don’t know why I didn’t visit it in the past. I told him I would stop by in the next several weeks to look at his programs to see where we can make some improvements.”
“Thank you very much, Dr. Clinton,” replied Katie.
“Please call me Dee,” said Dr. Clinton.
“Well what have you found Dee?” asked Sarah.
“A most extraordinary thing,” he began. “As you may know, about 50% of persons with Down syndrome have a lateral palmer crease, also known as a Simian crease, named after our evolutionary ancestor, the ape. The LPC, is also found in about 10% of the population on one or the other hand.”
“I wasn’t aware of that. I do know my daughter Hope has an LPC on both of her hands,” said Katie.
“Well, everyone at the Center that was negative had an LPC on both of their hands, including Marjorie. Those with Down syndrome that don’t have the LPC were all positive on your test sheet. Of course I didn’t share the test results with anyone.”
“So, what you are saying is that LPC combined with Down syndrome causes immunity to SDX,” said Sarah.
“That is how is seems. Of course, it is very likely that other slight genetic variations make a difference too, but there is one wildcard: Marjorie doesn’t have Down syndrome. I questioned her carefully about her past and what I found was interesting up to a point; but she doesn’t know who her birth parents are. She was adopted at birth and both of her parents are deceased, and she was unable to obtain a record of her birth parents when she tried about 20 years ago,” explained Dee.
“So what is our conclusion Dee?” asked Sarah.
“I think whatever is causing SDX doesn’t affect this small group because of their pre-existing genetic defects. I believe the pathogen must be mutating the genes in people who don’t have these pre-existing ‘immunities’,” said Dee.
“Wow”, said Katie. “T
hat’s a mindful. So what do we do about Marge?”
“You know her well, correct?” asked Dee, nodding at Katie. “You need to let her know that she is negative and tell her what my theory is. Maybe there is someone that knows who her birth parents were, maybe an older relative, or an old friend of the family,” said Dee. “The other option is to look for her adoption papers, but that may prove difficult.”
“Ok, I will get the ball rolling,” said Katie.
Back in her office Katie called Rob on his cell phone.
“Hi honey. I need a favor from you,” she said.
Katie explained the situation and left Rob to finesse the solution. About 15 minutes later Rob called back.
“As luck would have it, she has been having dinner every night for the last week with an old family friend who lost her husband at the beginning of the epidemic. She is 75, which would have made her 23 when Marge was born. She went to high school with Marge’s parents.”
“Does Marge know to call you if she gets any information?”
“Yes, she will call immediately if her friend knows anything,” said Rob.
“I am just about done here. I have to send a few emails, stop by Sarah’s office and then I will be on my way home. I should be home by 7:30 p.m.”
“Sounds good,” replied Rob. “How about I barbeque some steaks on the grill this evening? I have a lot of plans I want to share with you.”
“You’ve got deal,” said Katie.
Katie sent an email to Ben summarizing the day’s discoveries and then turned off her computer. A few minutes later she briefed Sarah on her plans for the weekend.
“Call me when you hear from Marge, would you?” Sarah asked.
“You’ll be the first to know.”
“And have a great weekend on the farm. I am envious. I wish my family was closer,” said Sarah.
About 8:30 p.m. Rob received a call from Marge. Her voice was a little shaky as she told him what her friend, Melba, had said. She had known both of my birth parents. They were in their early twenties and they both had Down syndrome. When my biological mother became pregnant, they wanted very much to go through with the pregnancy for reasons of faith. My adoptive parents had decided to adopt me even though they knew that I would also have Down syndrome. Everyone was surprised when I was born with no apparent disability. My adoptive parents never told me because they didn’t want me to carry that stigma with me throughout my life,” said Marge, now slightly sobbing on the phone. She had always known her parents were special, just not how special they really were until now.
They finished their conversation and hung up. Rob looked at Katie and she could see the tears welling up in Rob’s eyes. It took everything he had to hold back his emotions.
They finished dinner and the kids went inside to pack for the trip tomorrow morning. Katie and Rob walked hand in hand along the Patuxent River as they went over the information they had received from Marge. It was all now starting to make sense.
When they reached the house, Katie made a call to Sarah and then shot off a short email to Ben with this latest update. Everything was starting to come together, but Katie wasn’t sure she was going to like all of the answers they were getting.
The Trisomy Gift
As with all creatures, great or small, the human race randomly experiences genetic variation. Some humans are short, others tall. The skin of some is brown, others nearly black. Some are smart, others less so. There are beautiful blue eyes and beautiful brown eyes.
Some humans are born with what some describe as abnormalities. These sometimes negative variations number in the hundreds and many of the differences from “normal” have names. For example, in 1866 Dr. John Langdon Down was one of the first experts to thoroughly describe the “genetic disorder” caused by an extra chromosome with the 21st human chromosome. This trisomy condition would later be named after him -Down syndrome, or DS for short.
For the majority of experts, a “normal” human being is someone possessing in each and every cell of his or her body a full set of 23 pairs of chromosomes, numbered 1-23. The DS variation occurs when an individual is born with an extra 21st chromosome, either as a complete or partial copy. In turn, these people possess physical characteristics somewhat different than other “normal” humans: smaller stature, an upward slant to the eyes, perhaps a slightly larger tongue or a single deep crease across the center of the palm of the hand, etc. Having Down syndrome is not something people generally prefer or value. In fact, the modern view is that pregnancies known to involve DS could be terminated, and many are.
Down syndrome is the most common “birth defect” or chromosomal abnormality in human beings. About one out of every 800 births of all races and cultures world-wide has DS. In comparison to the rest of the history of mankind, people born with DS in the early 21th century have the best opportunities ever for a healthy and successful life. For starters, they have the best chance to even be born. Many parents willingly take on the challenges they know a DS child will bring. Quality medical care, education and social support is more likely to be available for them. Moreover, DS people generally have the right to freely develop personal relationships and, in some cases, to get married.
As DS people have a normal sexual drive, most societies have always been careful to make sure Down syndrome couples receive “education” in the area of relationships and sexuality. It is emphasized again and again in the medical and social literature how important this is, all presumably with a view to preventing further “unwanted” pregnancies.
The upshot of all this is that very, very few Down syndrome couples are allowed to marry, let alone have offspring. Of those who are able to pair up, many couples decide willingly or unwillingly simply not to have children. There are many reasons for this, but one of the main ones is that ‘normal’ humans say so. In most cultures it is believed that the offspring of Down syndrome parents would invariably involve great responsibility and much work. Indeed, in those rare instances then when DS couples are able to have a child, there is a very high chance the child would inherit the syndrome. Many pregnancies end in miscarriage. A great number are deliberately aborted, sometimes without the consent of the parents.
But there are very rare instances, uniformly unknown to society at large, where the birth of a “normal” child has happened. It seemed as if Mother Nature has determined that the human race should evolve in a new direction in spite of everything thrown into the way.
Whether in more open societies in some of the remotest corners of the globe or in an institution for “special needs” people, a few precious children from these very special parents have survived. In the history of humankind, these exceptionally rare offspring of DS parents would now become very special people indeed.
CHAPTER 49
Ben and Natalya returned from the Sakha region with little to show except a bag of soil and plant samples. Over the following week, the lab at the Russian Ministry of Health ran a battery of tests on the findings from the mammoth site, but nothing new was revealed.
Rob was a futurist in the survival area. He was already planning for the interruption of the food chain, the loss of the internet, communications, and electricity. He turned his Independent Living Center into a self-sufficient enclave. His reputation grew, and similar facilities started to pop up in other places. The pods were all finished and he already had over seventy-five students and employees living in the housing units. The only requirement for a space was that the individual had to be negative for SDX. There were no age restrictions, so young children from the neighboring communities arrived and many of Rob’s former students had returned to claim their spot.
Three months later a firm link between Mad Cow disease and SDX was established by the Pandemic Task Force at Johns Hopkins. With this revelation, the scientific community knew that the odds of finding a cure were now near zero, but that wouldn’t stop them from trying. In early January, Dr. Brian White, still on his endless quest for a cure, was found slumped over
his desk at the university. His dedication and persistence inspired the remainder of the Task Force to redouble their efforts to find a cure. About a quarter of the planet’s human population had perished and there were mass graves around every major city in the world.
Among the new arrivals was Beauregard Wilbur Walters IV, the great grandson of an old friend. The kids called him Will in memory of his great grandfather. The granddaughter of Will the First’s had been true to her word and supplied the funds necessary to improve the facilities at the Center so that the inhabitants would have the best chance at survival for many years to come. At Thanksgiving, Rob held a grand party at the Center to thank everyone who had helped make it a success over the years. As part of the celebration, and as a show of affection to Will, Rob christened the new facility the B. W. Walters Living Center.
Rob and Katie had buried their parents the preceding month. They all died within three weeks of each other. Katie resigned from the CDC, knowing her work was done and that she too only had a few months to live without a cure. Time had become meaningless and precious at the same time. She clung on to her remaining days, her remaining hours, with a steady grip. No longer having a need for the wristwatch her mother had given to her when she graduated from college, she gave it to Hope. Hope would be able to use it for many years to come.
Authorities marveled at how long civilization still held out. There was some increase in crime, but most of the day-to-day work keeping society going was in the hands of younger workers anyway. The younger generation, those in their twenties and thirties, still had hope. As a result, they were still going to work and the basic infrastructure of the country continued to operate. “Sneezy,” one of Dr. White’s youngest geniuses, kept doggedly at his research at Johns Hopkins.
The Perfect Pathogen Page 30