examinescience

A personal journey into the world of Science and Human History

Category: Cystic Fibrosis

The beginning of our Cystic Fibrosis Journey

SamRose2BlogI’ve mentioned elsewhere that I decided to find out the truth of evolution, creation, and Christianity because of our daughter’s cystic fibrosis. We all have our prime movers in our lives, and cystic fibrosis is mine, at least as far as the research into evolution is concerned. So, to show you my prime mover, on the 10th anniversary of the fateful day that brought our lives into contact with CF for the first time, I give you the beginning of our journey.

12/8/2005-Samantha was born healthy after an uneventful pregnancy and planned C-Section. We were unaware at the time, but Samantha’s blood would be tested for CF in a standard newborn screening (NBS). This is now common practice in all 50 states in the USA and in many countries.

12/19/2005-Samantha’s cough concerned the lactation consultant who essentially ordered us to have her checked out. I remember thinking that the cough was odd, but it didn’t register in my mind that it could be something bigger than just a cold.

12/20/2005-General pediatrician dismissed the concerns about the cough. He talked about how God gives new babies lots of fat stores to protect them from weight loss in the first week or so after birth. He wanted to follow up, but wasn’t concerned. We now know that her weight loss was as much due to cystic fibrosis as it was my wife’s lactation issues.

12/21/2005-We received a voice mail message from the Pediatric Pulmonary department stating they had results back from Samantha’s newborn screening, and they needed to see us the next day to tell us the results. We googled the name of her doctor to see what he specialized in because we were terrified. They had cleared his lunch hour to meet with us. We realized immediately that this was a very big deal, though we couldn’t figure out what it meant by searching for him on the internet.

12/22/2005-Exactly 2 weeks from the day Samantha was born, we received the news that Samantha tested positive for CF. That was a very crazy day, with the corpsman announcing the news to us nonchalantly before the doctor got a chance to talk to us about it first. I’m still bitter about that idiot.

If you want to read more, Alicia has written about those first 2 weeks on her blog, and it gives an accurate and detailed description of what we were feeling.

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Creation, Evolution, and Cystic Fibrosis (Part Five)

May is the month for cystic fibrosis awareness. It is also the month we conduct our annual Great Strides walk, which seeks to raise funds and awareness to combat this deadly disease. As I am a husband and a father before I am an amateur scientist, my loyalty is always going to be to my family.

I’ve said it before…we all have our biases. These are the presumptions that we bring to a particular issue. This can apply to everything from how we handle conflict at work to how we approach a research project. It also comes with us as part of our morality. Flawed though I am, I carry a certain moral code in me, just like you do, that I bring to the issue of cystic fibrosis.

At first, I was intrigued about the decline of cystic fibrosis in Brittany, a region of France. I’m not a mathematician, so wrapping my head about a formula that could show the increase or decrease in cases in any region just about blows my mind. I just don’t see how two people who haven’t been tested for a disease can prevent the future chances (roughly 1 in 4 according to Mendelian genetics) of the mutations being passed down. So when the cases were being reported in a decline in Brittany, I looked into it.

“We show, in this study, that the birth incidence of CF has dropped in our area following the implementation of prenatal diagnosis.”[1] It’s so clinical…so sterile. We have found a drop in CF since we learned how to predict if a baby in the womb has CF. Well, there’s only one way that ends, isn’t there? So here are the numbers according to the Scotet study: A full 35.8% of CF children were aborted on the sole basis of them having CF. Not allowed to live. Killed in the womb. Let it sink in for a minute.

This is evolution at its finest. Humans, the current evolutionary peak in nature, have decided to conduct evolution for themselves. After all, in mid-century 1900s and before, people with CF didn’t usually live into their teenage years anyway. This is just speeding up the process. And why have a child who suffers when you don’t have to?

This doesn’t just apply to CF either. “They both now take part in both premarital and prenatal testing, and even though every one in five pregnancies is abnormal, they can determine which embryos carry two copies of the same mutation and choose to terminate.”[2] This is in regards to Samaritans who can suffer from a wide array of genetic conditions. Yes, that’s the same Samaritans that Jesus talked about as being a good neighbor.

None of us want to pass on bad genes to our children. We want them to have the best of us…we want them to be better than us. So the answer is this: “Doctors can test a fetus early in pregnancy and terminate it if it carries the mutation.” This is in regards to Huntington’s disease.[3] So that’s how we’re going to handle disease…terminate the mass of cells that just happen to be developing into a baby, just like we might cut out a cancer.

Look, it’s clear that I’m not a normal person when it comes to things like this. I’m a Fundamentalist when it comes to abortions. I love babies, though I’ve only fathered three of them myself. And though I am a Fundamentalist, I’m also very flawed. I’m sure everyone is a hypocrite about something, and I have played the role in my life too.

But this is tantamount to the Tower of Babel. We have decided to be gods. If a developing baby (we call it a fetus so that we don’t have to admit that it’s a baby) proves to have a genetic disease, we terminate (KILL) it. We have decided to take evolution into our own hands.

Alicia and I were very surprised to find out she was pregnant with our third child. We had decided long before to stop trying. At first, I was extremely hesitant to have another baby after our daughter was born with cystic fibrosis. I did not want more than one sufferer in our family. We had already dealt with one “tune up” and a minor CF-related surgery with Samantha. My heart couldn’t take another child with that. So I told Alicia I wasn’t going to have another child. We could adopt maybe someday, but that was it.

I came around at some point, but by then we had both gotten a little older and another child would change the dynamics of our family a lot. So even though I wasn’t as worried about the genetics anymore, we decided two children were enough.

Imagine my surprise then, when she told me we were going to have another child! We went in for our first meeting with her OBGYN and wouldn’t you know it, one of the first things we talked about was genetics. I don’t remember the exact conversation word for word, but here’s the gist:

Doctor: So I see you have cystic fibrosis in your family history.

Us: Yes. Our daughter has the disease.

Doctor: Do you want to test your baby for it?

Us: No thanks.

Doctor: It’s a relatively easy test.

Us: That isn’t the point.

Doctor: So I assume you’d keep the baby even if you found out it had CF?

Us: Yes.

Doctor: Ok, then we’ll approach this by checking via ultrasound as the baby develops to check for signs of CF so we’ll know how to handle the baby once he or she is born.

Us: That would be wonderful.

I’m not better than you, and this isn’t an attempt on my part to pretend to be better than you. The sins you struggle with are not the sins I struggle with and vice versa. But ending the life of a baby is not a sin I struggle with.

I am convinced that the vast majority of humans would not kill their newborn babies even if they found out immediately after birth that the child had a crippling disease. They just wouldn’t. So in order to combat that issue, humans kill the baby when it’s a fetus so they don’t have to admit that it was a baby. This is how modern evolution works.

We found out a few weeks after our youngest daughter, Hannah, was born that she carries the same mutation we do, but only from one of us (since we both carry the same cystic fibrosis mutation, we’ll probably never know which parent she got it from). She does not have cystic fibrosis, but she is a carrier. Theoretically, she, like her parents, are protected from tuberculosis, though I’m not going to put her in a position to test that theory.

I just don’t understand how researchers and writers can be so sterile when talking about abortions as if though they are the best way to handle genetic conditions like cystic fibrosis, Tay Sachs, sickle cell anemia, etc. Yet it’s true…staring me right in the face. The research proves it’s a tool being used in many parts of the world now.

This doesn’t mean that people who abort their babies are bad people any more than my sin makes me a bad person. Yet I do believe that it makes a person misguided and maybe shows a weakness on their part to look for the easy way out. Samantha has had three hospitalizations and two procedures since she has been born, all CF-related. And she has gotten off “easy” as it were. Many sufferers have gone through more.

Yet I wouldn’t have given her up for the world if we had known she was going to go through this. Instead, we work to find a cure by supporting the Cystic Fibrosis Foundation and raise awareness through talking to people about CF, my writing, etc.

To join our fight against cystic fibrosis, click HERE.

To stay up on the latest research on evolution and creation, click HERE.

[1] Scotet et al. Orphanet Journal of Rare Diseases 2012, 7:14

[2] Kenneally, Christine. The Invisible History of the Human Race: How DNA and History Shape our Identities and our Futures. Viking Publishing Group, New York, NY. 2014. pg 300.

[3] Ibid – 293

Creation, Evolution, and Cystic Fibrosis (Part Four)

I have to be careful here about how much to lay out about my research plan because I don’t want to taint a possible research pool in the future because it is my honest desire to discover a way to truly test the Bible someday, just like we test evolutionary hypotheses. That’s for another post. So here, in the best of my limited understanding of science, is how I think cystic fibrosis (CF), and other genetic conditions, came about because of the fall of man.

In the Bible, Genesis tells us the extreme damage to the current creation. Genesis 3:6-8 reads, “So when the woman saw that the tree was good for food, and that it was a delight to the eyes, and that the tree was to be desired to make one wise, she took of its fruit and ate, and she also gave some to her husband who was with her, and he ate. Then the eyes of both were opened, and they knew that they were naked. And they sewed fig leaves together and made themselves loincloths. And they heard the sound of the Lord God walking in the garden in the cool of the day, and the man and his wife hid themselves from the presence of the Lord God among the trees of the garden.”

In this one short passage humanity, and really all creation, went from being utopian to being plagued with the reality we face today. It tells us the story of the “fall of man.” Any time I say, “fall of man” (and I say it a lot) this is the passage I am referring to. I’ll write in the future about the apologetic side of this passage, but for now let’s stay on topic. How did we get cystic fibrosis from this?

If the creation was essentially perfect before the fall, and then imperfect after the fall, then no genetic diseases existed before Adam ate from the fruit. Since all we have of the scientific record is scraps of fossilized bone, it is very difficult indeed to know the disease possibilities of the scientific Adam and Eve.

Furthermore, modern science cannot tell us the reason for the cystic fibrosis mutation or how it came to be. Tuberculosis is the most reasonable agent for giving heterozygote carriers a selective advantage in cystic fibrosis, but that doesn’t show how CF started. It only suggests that once cystic fibrosis mutations appeared, they didn’t die out because they provided an advantage to those who had them (as long as you only had one. If both of your CFTR pathways were CF, you died very young).

Let me put something into other words. Modern science cannot, and probably will not ever, show when the first CF mutation came to be or why. I have found a significant time gap in the research where CF existed with no primary agent for its existence. I’ve yet to hear back from a researcher on why that vacuum exists.

What I believe, instead, is that at the moment of the fall of man, when the woman would experience pain in childbirth and the man would have to earn his wages, it affected everything. God may have given these punishments to Adam and Eve, but what also happened is that our very DNA, the core of who we are physically, became an open battlefield. Suddenly changes could be made to the minute pieces of genetic information. This was both good and bad. Good because it allowed humans to adapt to their local environments, for example. Bad, of course, because now cystic fibrosis (et al) was able to develop.

Admittedly, the Bible also doesn’t tell us when the first cystic fibrosis mutation appeared. Neither modern science nor the scriptures are going to be able to say, “Here is evidence of the very first mutation.” The information is lost to history. What the Bible does show is, however, is how the mutations were allowed to occur, and that is because of the fall of mankind through sin.

This is not a closed research project. I will continue this line of thinking over time to develop it further. To keep up with the research, click HERE.

Creation, Evolution, and Cystic Fibrosis (Part Three)

In our last post, I mentioned in passing that the cystic fibrosis mutation is estimated to be at least 50,000 years old and the tuberculosis bacteria is roughly 40,000 years old. For the creationist, this might be difficult to accept, especially in light of what groups like Answers in Genesis and the like tell us.

The simple fact is that I don’t think the Bible tells us anything about how long we’ve been here, so seeing time estimations like that isn’t anything to be concerned about in my opinion. Furthermore, seeing that humans have been on the earth for an estimated 150,000 years is not worrisome.[1]

Yet for some, it might just be too much to grasp. I understand that. I’m not even saying modern science is right. I believe it may be that modern science enjoys those spans of time because it gives scientists the ability to support evolution. The single most important element in evolutionary science is time. It must have been billions of years…it took that long to make us from nothing!

So it is entirely possible that the age of the earth, the length of time that man has been around, and the age of cystic fibrosis and tuberculosis are all overestimated. However, the math seems to work out. In the absence of any real timeline from Genesis or the rest of the Bible, I believe it’s safe to assume we’ve been here longer than my fellow fundamentalists suggest.

I will get into the age expectations and allowances in the Bible at a later date. Suffice to say, some will be very upset by my writing and I understand that. All I’m attempting to accomplish is to open up the valve of our understanding a little. We cannot be afraid of what we’ll find.

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Notes:

[1] Smith, Cameron M, The Fact of Evolution. Prometheus Books, Amherst, NY. 2010. P 215.

Creation, Evolution, and Cystic Fibrosis (Part Two)

This post represents the conclusion to the previous post on my initial cystic fibrosis genetic evolution research.

Tuberculosis (TB) is another “underappreciated” option.[1] This is the closest of all options in actually being the evolutionary cause of cystic fibrosis. TB occurs in the right geographical area, thus it can pass that part of the test, though I submit that the data does not show it passing the historical method because most research is from historical models as recently as the 1600s. That doesn’t mean that heterozygote CF carriers don’t possess an advantage in not contracting TB. It just means that it is too recent a development to be the cause of CF mutations.

So while I can accept that TB presents the best case for evolution as it relates to cystic fibrosis, it has a significant issue. The study points to the epidemic of the 17th century in Europe as evidence that CF has an evolutionary heritage associated with the disease. CF has been around for 50,000 years, according to scientists. Researchers don’t know the exact age of TB (estimated to be roughly 40,000 years old), but I’ve yet to find anywhere that suggests it’s as old as CF. By their own research, CF cannot come from nature’s response to TB. At best, the research points to its prevention of TB as a happy accident.

In short, either CF is much younger than first thought or it isn’t nature’s response to TB.

Natural Selection’s Failure

The reality is that, as of current research, CF has no known cause outside of the religious contention that it was caused by the fall of man. So, since it has no provable cause, nature should have been able to eradicate it. Yet it hasn’t, and only recently has any eradication occurred at all, and a very small percentage at that.

Here’s why CF wasn’t eradicated by natural selection: Nature can’t eradicate recessive genes. They can lie dormant for generations. I have no known deaths in my familial history from cystic fibrosis, yet I have a daughter with cystic fibrosis, so I am a carrier. Only God knows how long it’s been sitting in some part of my family tree, dormant, until produced with another like mutation in the life of our daughter.

In the next post, I will be following up my research with some thoughts on the age of cystic fibrosis. Sign up HERE to stay up to date with this research.

[1] Poolman, Eric M, and Alison P Galvani. “Evaluating Candidate Agents of Selective Pressure for Cystic Fibrosis.” Journal of the Royal Society Interface4.12 (2007): 91–98. PMC. Web. 21 Nov. 2015.

 

Creation, Evolution, and Cystic Fibrosis (Part One)

While I have always been fascinated with the issue of creation, the reason for my recent dive into the creation/evolution debate is because of my daughter. It hasn’t been a short-term project either. My first debate on the topic took place several years ago. I worked with a devout atheist and evolutionist in North Chicago, IL at Navy Station Great Lakes. I proposed an idea there around 2012 that I will discuss briefly here and develop in the future.

The idea that I proposed was that cystic fibrosis mutation is a result of the fall of man. After doing some research, and reading the theory proposed by biologists, I’m actually more convinced now than I used to be.

Remember that there are two types of evolution: Macro and Micro. CF is a microevolutionary adaptation, theoretically to help the carrier survive something in nature. However, after conducting my research, I am ready to suggest the following: Cystic fibrosis, and other autosomal recessive genetic diseases, is the product directly, or indirectly, of the fall of man spoken of in Genesis chapter three.

What you are about to read is a very stripped down version of the research I’m conducting. It is my hope to publish my paper on cystic fibrosis and evolution later this year in a scientific journal. If and when that gets published, I’ll be sure to point everyone to it so you can read more in-depth.

Introduction to Cystic Fibrosis (CF)

So here is a basic rundown of cystic fibrosis as it relates to my daughter and the creation/evolution debate:

First, my daughter is a double delta, which means that she carries two copies of the delta F508 mutation for cystic fibrosis. Most CF patients have this mutation in at least one form. Delta F508 is the biggest problem we face in cystic fibrosis. When I talk about curing CF, I think of curing the delta F508 mutation.

Second, my wife and I both gave our daughter one copy of the delta F508 mutation. Alicia and I both carry a good copy of the gene as well, which is why we are symptomless carriers of the genetic disease. There will be more on this in a bit as the research project I’m working on is geared toward understanding this reality.

Third, cystic fibrosis is an autosomal recessive disease, much like sickle cell anemia, tay-sachs disease, and other genetic diseases. That means that our youngest child, who has one copy of the delta F508 mutation and one good copy of the gene does not have cystic fibrosis. It also means that, should she marry someone someday who does have a cystic fibrosis mutation, then she has a 1 in 4 chance of producing a CF patient through her offspring.

Fourth, cystic fibrosis mutations are supposedly 50,000 years old.[1] This information, and more general information about CF, is found in a good New York Times Article on the subject. I’m reviewing other sources as well, but the NYT article does a good job of laying out the basics.

Fifth, it is believed, or at least was believed, by many of the same evolutionary biologists that CF was nature’s designed response to bacterial infections like cholera.[2] Cholera affects how salt moves through cells, which creates loose bowels and ultimately, diarrhea which if untreated can cause death. Since CF does the exact opposite of that, biologists believed, at least until 2000, that asymptomatic carriers might have had an advantage over “normal” humans when it came to cholera and other diseases of the type. More information on this in my findings below.

Creationist Research Results

Below are my findings from the research completed thus far:

First, the cholera/typhoid hypothesis is wrong. Studies have been conducted that show cystic fibrosis does not prevent cholera from doing damage in mice or humans. A study conducted in 1995, concluded that, “As given in the introduction, the most favoured hypothesis for the genetic advantage in CF heterozygotes is their ability to deal with the debilitating effects of secretory diarrhoea. Only modest evidence is available in support of the hypothesis.”[3]

That modest support, as I read on, was really no support at all. And combined with another study, conducted five years after the first, it became even more definite that the CF mutation didn’t assist our ancestors at all. The second study stated that, “Our results provide evidence against the theory that CF heterozygotes have a survival advantage when they contract diarrhea mediated by stimulation of active intestinal chloride secretion.”[4]

Second, that even if they were right, they were barking up the wrong biological tree, as it were. This is called historical-geological line of evidence. Passing this test is a requirement for scientists to accept a scientific model. Cystic Fibrosis was and still continues to be a predominately European and Middle Eastern problem, much like sickle cell plagues the those of African descent. Cholera, however, is a bacteria which came from Africa originally (according to modern biology). Therefore, evolutionary biology suggests that cystic fibrosis gave people who had no real contact with a bacteria protection against it. I can grant that nature is a haphazard designer, but even I can see significant problems with this line of thinking, as have most researchers. Again, cholera and typhoid have been largely dismissed as agents causing cystic fibrosis advantage.

Typhoid is another option, but it must be rejected as it is most prevalent in Indonesia, where CF is virtually nonexistent, and a research project in that country failed to prove anything close the evolutionary hypothesis for CF.[5]

According to evolution, CF should present its carriers with an advantage over non-carriers. The two flaws are obvious. First, the studies don’t bear this out. Second, it prevents the wrong disease. Nature wouldn’t have developed cystic fibrosis mutations to prevent cholera in Europe because cholera developed in Africa. Typhoid is an Indonesian disease, yet delta F508 is essentially non-existent in the archipelago. One would expect that the most prevalent mutation would be present where its agent was located. The research did not bear this out.

Naturally, scientists also offer other ideas on why CF developed and why it wasn’t eradicated via natural selection. They have to. Evolutionists must explain why things are the way they are in nature just like creationists must. We will discuss this in Part two later this week.

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Notes:

[1] http://www.nytimes.com/1994/06/01/us/cause-of-cystic-fibrosis-is-traced-to-the-stone-age.html

[2] Lewis, Ricki. “Human Genetics: Concepts and Applications (Second Edition, 1997) pp 247-248.

[3] Cuthbert, A W et al. “The Genetic Advantage Hypothesis in Cystic Fibrosis Heterozygotes: A Murine Study.” The Journal of Physiology 482.Pt 2 (1995): 449–454. Print.

[4] Högenauer, Christoph et al. “Active Intestinal Chloride Secretion in Human Carriers of Cystic Fibrosis Mutations: An Evaluation of the Hypothesis That Heterozygotes Have Subnormal Active Intestinal Chloride Secretion.” American Journal of Human Genetics 67.6 (2000): 1422–1427. Print.

 

[5] Poolman, Eric M, and Alison P Galvani. “Evaluating Candidate Agents of Selective Pressure for Cystic Fibrosis.” Journal of the Royal Society Interface4.12 (2007): 91–98. PMC. Web. 21 Nov. 2015.

A Grand Starting Point

Every journey has to start somewhere. Many will want to start at the “beginning.” While I have started conducting a review of literature of the beginning of our time, my energy has been focused on a different, more recent development. That’s a relative term, of course, as I’m still beginning several tens of thousands of years in our past.

As you already know from a previous post, I am curious about the development of cystic fibrosis. As I have a daughter who has the genetic disease, and another daughter who carries the mutation, and as my wife and I also carry the mutation, I feel a special connection to the disease. I also share a connection to the approximately 25 million people in America who carry a mutation and the 30,000 who suffer from its effects.

I could expand that too, to the thousands who suffer from Tay-Sachs disease, sickle cell anemia, and a host of other autosomal recessive genetic diseases. We all share two things in common. The diseases are recessive in nature, and they are deadly. They also all have a common beginning in that they were mutations of good genes.

Therefore, while I start with the science of evolution in general in determining how nature speaks God’s creative acts to us, I focus in particular on the thing that matters most to me, my daughter and her disease. If I’m to help my children understand life around them and how their genetic makeup affects who they are, I start here.

I hope you will join me. You may very well be a carrier of the disease even if you don’t suffer from it, or you may carry any number of other genetic mutations. Cystic fibrosis offers an amazing case study into the evolution (micro) of our gene pool. Therefore, over the next several posts, we will be exploring cystic fibrosis before going more generally into the study of evolution.

Click HERE to keep up to date.