Wider screening curbs inherited disorders such as cystic fibrosis, Tay-Sachs
Dreaded diseases dwindle with gene testing
Seeded on Wed Feb 17, 2010 9:15 AM EST (msnbc.com)
— Filed under: health, pregnancy, social-affairs, womens-health, biology, diseases-and-conditions, medical-research, diagnostic-tests, genetic-testing, jeff-carroll


Very ironic and sad that a method touted as a "life-saving effort" is what gives an excuse to kill a baby.
Sure, and watch a child suffer from a debilitating disease that causes pain and suffering.
Yeah - Let's bring children into this world who will have problems from the start, and watch them live short lives filled with pain and suffering. Let's watch their parents suffer and go backrupt over the medical costs associated with caring for these children.
Isnt' that the (American) Christian way?
Yes, that is the "Christian" way. For instance, the Catholic Church had rather millions of children be born and starve to a slow death than a woman use birth control or have an abortion. God help her if she tries to protect her and her children from AIDS by using a condom.
Of course, these Right Wing zealots don't care about children. They are in love with fetuses. Once that child is born, it can die of a dreaded disease or starve to death because these "Christians" do not want to give them health insurance or welfare. Once again, sheer evil wears the cloak of Christianity. May God protect us from the righteous.
For the Catholic Priest they are usually in love with the male fetuses. Just saying....
Same with Baptist.
Reusable - and once they go bankrupt, the high cost gets passed on to all of us in the form of taxes for social services.
The "baby birds" with some of these illnesses will never be able to "fly the nest", and parents might have to provide hands-on care (e.g., bathing, feeding) until the day (the parents) they die, regardless of their own age-related issues and illnesses.
Then the "baby bird" gets passed on to the next generation for care. (In my own family, a sister had to take care of her retarded older sister, and now it looks like she'll eventually be taken care of by her nieces, and she has always been in diapers.) It is wrong the burden usually falls on us females, and our choices and opportunties for a good life limited.
My daughter has CF and I wouldn't trade her in for anything! She is doing well and will attend Fl State next year. She hasn't suffered yet and who is to say a healthy child won't suffer from an accident or what ever! Per some of your comments, you should abort every child because you never know what will happen with a child.
I'm sorry, I would rather live with a disease than not live at all. I have a cousin with CF who is healthy enough to be playing college soccor No doubt she is grateful she wasn't aborted so she wouldn't have to live with a "debilitating disease."
I daresay many Nazi's would agree with you all. After all, killing handicapped and diseased people was putting them out of their misery and keeping them from reproducing, thus causing disease to decline.
Consider me a religious nut job, but if my baby was diagnosed with a disease, I'd consider it God's job to decide when to end my child's life, not mine.
That's your choice cabrams.
Now let us make ours.
I have to commend the people who see all the suffering that cystic fibrosis, sickle cell anemia, Tay-Sachs, Huntington's and other diseases cause, and who take steps to make sure a child is not born having to suffer like that. It's compassionate.
But I have to say that it is a little naive. Are people with genetic disorders unhappy, while every one else is happy? No, life is more complex than that. To determine whether life is worth living, based on one genetic mutation, is quite a drastic judgment call. We all have afflictions, and we all have special qualities. Who is to say that certain diseases are so bad that they trump everything else that makes human life valuable? Perhaps one person with cystic fibrosis thinks it would be better to be dead; another has found plenty of meaning in life. Who is to know how that embryo's life will play out?
I think it is important to see people (even embryos) as more than disease. Even a "healthy" person will have diseases. Every one has mutations, and everyone passes them onto their children (though most are not expressed). We can't find them all, and because of that, billions of wonderful people are allowed to be born. And guess what? They live to suffer colitis, alcoholism, cancer, Alzheimer's, obesity, depression, ugliness, and many other unique afflictions that complement the positive aspects of their lives. It's about what you do with life, not what specific diseases you will suffer before you ultimately die.
cabrams,
If you are a relatively healthy adult, I can understand why you would want to live with a disease than not live at all. You have had a life, after all.
You might see it differently if you had watched your child die of Nieman-Pick disease (a relative of Tay-Sachs) before he reached his second birthday. You might see it differently if there had been no cure or treatment. You might see it differently if you watched him suffer and slowly go blind, deaf and become paralyzed and you could do nothing to stop it or to help him. You just might see it differently then.
Eugenics - The Progressive answer to everything. Hilter would be so proud of you.
Being Christian used to mean that one believed in the ways of Jesus Christ. That doesn't seem to apply with organized religous fanatics giving it a bad name. Those are the rules of men, no from Our Heavenly Father.
Christ healed diseases and that is what research is trying to do. It's small step but it is better than doing nothing. Abortion is no fun for anyone but I can understand why parents wouldn't want years of suffering and heartbreak. Right now, it is the only way to stop some diseases. I pray that researchers will find cures someday soon!
Your self-righteous post exposes you as someone who has not had to carry, birth and raise a seriously ill or defective child. Abortion can prevent much suffering on the part of the baby who has to live with birth or chromosomal defects and the mother who expends her emotional energy carrying for such a child. Diseases such as cytic fibrosis cause a great deal of suffering for the infant and child.
And for all of you religious freaks that are against eugenics, stem cell research and abortions, there's your answer. Deadly and dire diseases are being decimated and are on the decline. I know a family that had a child born with Tay Sachs disease. It not only affected them but everyone who knew them and still lingers in my mind today some 10 years after the event. So you are informed, once your child is diagnosed with this disease, death occurs at about 4 to 6 years of age...the age when all children are so beautiful and delightful. Imagine holding a beautiful child that is normal in everyway and knowing that child only has maybe 3 to 4 years left of life. Thank you science. Keep up the good work and don't let these religious nutjobs deter your research.
I'm not religious or a nutjob, but eugenics isn't a good thing. When you bred out the impurities, you get chaos, genetically speaking. Ever seen a purebred dog? Dumb as a box of rocks. Also, you are diffusional if you don't think that someone will use this technology to make designer babies/people, or to eliminate things other than diseases.
Do you think a family that had a 2 year old child who died of a strange disease would wish that child had never existed? How about one that died at age 5? Or age 10? Or age 20?
I can't poll everyone, of course, but I would venture to say that even though it may have been a struggle, many would say they were still glad for every moment they had with that child.
Ending one evil by means of another evil is no solution at all. Why don't we just mass-slaughter every person who has those diseases? That would solve your problem even more quickly, would it not?
And the only cost is the life of the child...hmm alive or dead...great choice. Look I'm not against decreasing the likelihood of these diseases but, we need to find a way to save the child in the process. I mean, we could stop crime tomorrow by having police shoot on site anyone who commits a crime. The ends do not always justify the means; we really need to consider this when developing our brave new world.
Ron, big difference between what this article is about and purebred dogs or eugenics.
Ron. I have a "purebred" Shetland Sheepdog who is smarter than some humans I know. He is not "dumb as a box of rocks" as you stated.
Let's not forget the smartest dog...the poodle. :-D
I'm all for testing of various diseases. If I could have the choice not to pass along something like NF(neurofribromatosis)(sp), I'll do it.
sorry for the typos..dayquil stickes again.
They aren't talking about having abortions. They are talking aout NOT having babies (as in avoiding pregnancy - probably by getting their tubes tied when they find out about the bad genes) It's a very good idea to avoid needless suffering of babies.
There is also the issue of fertilizing eggs and testing the resulting embryos to determine which have the mutation and which do not, then implanting one that does not. I'd assume those embryos which do have the mutation are destroyed or frozen down until they are no longer viable. I personally don't have a problem with this as an embryo is just potential for human life.
Yes they are talking abortions. Read the caption under the picture.
I read the caption, there are other ways to screen embryos (like prior to implantation). I'm sure abortion is one option they are discussing, but they are not ONLY talking about abortions and I doubt that is the primary strategy here.
They are also talking about screening couples before a pregnancy occurs at all. If both test positive as carriers, then they can decide how to proceed. While it's possible that couples will go on to do IVF with screening, some may instead decide to take their chances (but with the foreknowledge to start treatment early if the child does have the disease), while others may decide to adopt a child instead. For pregnancies that are already in progress, it is still helpful to know as early as possible if the child has the disease so that treatment can start as soon as possible.
These tests provide information so that potential parents can make an informed decision that is right for their situation.
WH-16,
Of course a family that has brought a child into the world loves that child and treasures their time together. But, if you ask that family, having watched that child suffer and inexorably die, if they would want to bring ANOTHER child with the same fatal condition into the world, most people would say no.
Have you ever had to watch your child die?
And for all you selfish people who call those of us with actual consciences "nutjobs", there is always always a consequence for taking the easy way out.
Perhaps when you end up with Alzheimers and dementia in your old age your children will choose to take care of you rather than have you euthanized.
Oh wait. You'd actually have to choose life in order to have those children.
Sounds like a good way to clean a dirty gene pool and keep it clean in the future.
Der Fuhrer would be proud of you.
The Fuhrer, if I recall, believed in the mass prodution of babies. No birth control or abortion in Nazi Germany. No FREEDOM OF CHOICE. NO FREEDOM.
I resent a bunch of right wing nuts trying to take government out of our lives when it comes to helping people, yet they want to control the most personal and private aspect of women's lives.
Killing babies isn't a choice or a right!
ACt2,
I appreciate your reservations about abortion. But, would you at least agree that testing BEFORE pregnancy (for men and women in high-risk populations) would be a good idea to avoid fatal genetic disease? Like the Orthodox Jewish Rabbi suggests and does? I for one would not want to bring a child into this world only to watch him suffer and die. What is the point?
To Lerner, the bottle is half empty. Getting rid of these diseases has nothing to do with those that have them. It is making the future better for all newborns. Only by understanding the disease made it possible to finally end it. Most people who have something major wrong with them wouldn't want to give it to their worst enemy. I have a long term disease and if they can come up with a cure to keep others from getting it, I would jump for joy.
Most of these comments are laughable. Everyday I'm struck by how absolutely self centered certain segments of the American population are.
I don't care if all of CF embryos were eliminated in America....do you think that the same is happening everywhere else in the world? Sure these odd diseases mentioned in this article are being dispensed of, but common ones that cross racial boundaries and many ethnic groups will live on and on. When most countries can't dispense antibiotics to all of the people that need them, do you honestly believe that they too are screening embryos? These diseases will be with us for a long long time.
Courtney, are you trying to say that advances in medicine have not helped in third world countries?
Courtney, we can fix that by making sure they don't get in our country.
But, you watch, we'll take steps to make America great for our children and us by doing something like this but then the poor gene pool immigrants will pour into our country like ants and make our country like theirs...a third world @!$%# hole.
.
When my wife was pregnant with my only biological child, she was tested and we were told she would have Down’s syndrome. Both my wife and I are pro-choice. We were told on the sly by the Doctor that we should abort the pregnancy, however we discussed it, and we both had a strange feeling not to. My daughter will be 17 on the 29th of Feb. She just got her driver’s license yesterday 1st try. She is almost a strait 'A' Student speaks 3 Languages, English, Italian, Some Spanish, as well as a touch of Hmong. She play's Violin, guitar, and plays the piano all with extreme skills. She was at one time being watched by the U.S. Olympic Scouts for her Gymnastic abilities; And she dances I must say considerably better than I. The only abnormality which she seems to have other than being talented, smart and graceful is that each of her eyes are two different colors. Left is blue on top, brown on bottom, right is green on top, and blue on bottom. (My Rainbow Girl) which she also was a member of for a while. I agree that screening is a wonderful tool. However, Do NOT takes a single test from a single lab as gospel. For that matter don't take two tests from two labs. Have several tests and verify several times if you are contemplating taking action based on the science. Genetics is still a relatively new science. It still makes mistakes as happens in any field of study. Verify, Verify. And no I would not have traded her had she had downs syndrome. That, not being the point. The point is people make mistakes. Some can't be reversed.
I am still pro-choice. I simply made the right choice when it came to my daughter. I hope no matter what choices you make that yours also are right for your circumstances.
Wonderful story!
What a beautiful story. Isn't it great that you had a CHOICE. Seems you made the right one for your situation.
Your opinion would matter if you were "Denise" and not "Dennis". Women are the ones that have to deliver and take care of the child. Your comment "my only biological child" reveals your single-minded desire to reproduce, regardless of what negative impact it would have on your wife's options and happiness. It should have been her choice alone.
Her choice alone? You're assuming that the father has no responsibility here. Unless he left her and the child (which he did not), he absolutely has a choice in the matter.
His wife already made the decision to be pregnant. Her body will go through the same thing whether the child has Down's syndrome or not. As far as child care after birth, what makes you think she will do all the work? My husband helps with the kids. Because of that, he absolutely had a say in how many kids we had. I would have wanted more, but he didn't feel he could be as good a parent to more than two, so we had two.
Your argument is laden with dreadful assumptions about men.
Because the dreadful assumptions sadly are true the majority of the time - just ask the millions of single female parents struggling to raise children alone and hold down a job, without financial or other help from what turned out to be nothing more than a sperm donor.
You're just one of the lucky ones.
I have a neurological disease that causes brain tumors, blindness, and my other side effects. I have spent countless days/weeks in hospital having MRI’s, biopsies, and 3 major surgeries as a result of my disease.
I have spent thousands in medical bills, I had to postpone buying a home because 2 years ago I had to have an emergency surgery that cost me $17k out of pocket, and I have insurance! My parents almost lost their home when I was young because my medical bills were so high.
My husband and I are going to start trying to have a baby next summer, and we WILL be doing embryo and genetic testing. I do not want our child to suffer the same fate as me. I have the tools (genetic testing) to provide a better life for my children, and I am going to those tools.
No offense intended, but would you prefer if your parents had just killed you in the womb? Because that is basically what you are saying is the better choice for your child.
Would you or your family say that your life has no value? This may sound like I'm being smart-mouthed, but I'm asking a serious question. Because saying we should kill every baby that has certain diseases means we have decided that child will NEVER have value.
This article makes it sound like it is a great help to society, but as someone else mentioned it is doing nothing to cure the disease. Because the carriers are still out there. Their only solution is to eliminate those who have it. Which is a very dangerous road to start down.
If Seph had not been born, she would not be known and the only pain suffered would have been her mother's sadness at the prospect of having to abort.
WH-
My mother did not know that she was a carrier until I diagnosed at 6 months. I have older siblings that are in perfect health, so they did not think anything would be wrong with me. I am the youngest , because my mother chose not to have any more children after me because she was a carrier. I know that my parents love and value me, and I know my mother is wracked with guilt that I ended up with this disease. If she would have known, she might have made the decision to abort, but she didn’t know so that decision process never happened.
I know that I am a carrier, I know the emotional torment that I have endured, I know the physical complications, the financial burden, the potential complications, AND I know that if I can prevent it from happening to my child I will.
Some disease cannot be cured and thus the logical solution is prevention. I wish there was a cure for my disease, but there is not, thus I continue to live with every day until it kills me.
So your husband is not a carrier?
Seph,
You're making a very wise choice that could potentially allow not only your children with a better quality of life, but their children and their children's children and so on.
WH,
Obviously someone with a genetic disease is not worthless, infact they should have the same worth as anyone else in the world. You're missing the point of these tests and this is that, given the option, it would be better to bring a child into the world who is more likely to have a better quality of life. It really isn't a difficult concept.
I'd also like to add that this does help cure the disease. By reducing the number of carriers, less people will have it in the future. Selecting an embryo that does not have the mutation of interest makes it impossible for them to pass it down, and in this way potentially all genetic diseases could be eradicated.
Genetic diseases can never be eradicated. Every one is a carrier of some recessive disorder, as the result of thousands of mutations that occur during the development process. Most likely, they will never find a mate with a mutation on the same gene, so the disorder will never be expressed in any offspring. A few disorders happen to have a lot of carriers, and the best we can hope to do is reduce the number of carriers. But we can never eliminate all carriers of any disease, so there is always the rare chance of a baby being born with an autosomal-recessive genetic disease. (This likelihood increases the more closely the parents are related to each other.)
Spontaneous genetic diseases probably could never be eradicated, but mutations that lead to disease passed through the germline most certainly could.
New ones would arise with each generation. This is true for inherited traits (especially recessive), as well as spontaneous mutations. You could theoretically eliminate all known genetic disorders with vigilant testing and subsequent sterilization or selective abortions. But mutations will continue to occur, and recessive genes coding for genetic diseases may become quite common in a population before the right combination of mates produces offspring expressing that disease. By the time the condition is diagnosed and identified on the human genome, there will be many carriers and probably quite a few afflicted as well. And there has to be a relatively high number of sufferers before it becomes cost-effective to test everyone in a population for that particular disorder.
Small, isolated populations are more susceptible to genetic diseases, simply because more carriers are concentrated into one interbreeding pool. Actual incest over multiple generations would be a worst-case scenario for accelerating the development of new genetic diseases. The history of hemophilia is a perfect example of this.
This article is both so hopeful and so frightening. What is the mega message to those suffering with these diseases? It would have been better had you not been born? How about others who are differently abled? What do they hear? If we had known you would end up in a wheelchair, we would have not had you?
I think it's wonderful to advance medicine and cure disease. But I think we should acknowledge that these pre emptive measures to avoid illness have a very dangerous, powerful message and deal with them with great caution.
I think Seph's post addresses your concerns from an informed perspective.
That is not the message and it most certainly should not be interpreted in that way. The only message is that you have a choice over whether your child inherits a genetic disease. As a potential ALS carrier, I will most definitely be getting these tests before I have children to make sure they don't get this devastating disease.
Pbarb- are you at all concerned that money for research into curing ALS will be reduced if the population suffering from this disease becomes more scarce through selective births? I am not saying I would wish ALS on anyone. I just think there is a lot to consider if we decide to eradicate disease by using eugenics.
My mother in law had a strange sickness that no one knew what it was. Whe had 4 children. I married into that family, the youngest son. His brother began showing uncontrollable movement. This was in the middle 60's. U of M diagnosed him with Huntington's Disease. We learned that my husband was at risk as well as both of our children. At that time no test was available, so we lived with spectre of destruction of all that we had, in the background. One by one he and his siblings began showing symptons
.There is far, far to much to share to try and make people understand but- it took my husband after 20 years. My younger son died 9 years ago after years of the disease. He was only 38. My 2nd son is in a nursing home, slowing dying, but I am too old and in too poor a health myself now to provide physical carefor him. My son's daughter, my only grandchild is 24 , unable to live independently because she too inherited the disease.
This disease takes the "best" of many diseases. It affect mental and physical. The person may began making poor choices, impulse control is affected, many have legal problems. They lose jobs and don't know why. Their ability to understand and retain information is limited. They began to have physical problems which leads to falls, many er visits ( can bring in protective service who know little about the disease). Poor muscle control leads to eating problems food goes everywhere. Eventually most end up unable to swallow. They also lose the ability to talk during this time . The part of the brain that controls the movement of tounge is being affected. They are a danger to themselves and very often their caregivers. There is no understanding of hygiene, teeth rot, using the toilet is over. Eventually they die, must likely from pneumonia. This does not nearly describe the symptoms the person can display.
The brain cells are dying. The person that was, the one that was loved is mostly gone. You are caring for what was. In the meantime you have lost your income, your friends, your standard of living. Medicaid and medicare cover the basics and thank God for that. Many who have no family end up homeless, some even with a family, as they cannot be made to see what is best for them. Adults have rights you know! There is little in the way of in home care available. Many nursing homes refuse to take someone with HD because of the violence. The family trying to get help finds closed doors everywhere. There is so much despair because no one understands the disease and this includes the medical field, even some of the experts.
What would I have done if testing had been available? If my husband was at risk, we sure would have found out his gene status before marriage. Would I have married him? I don't know now. I know too much of what really happens.
What about my children? Each child would has a 50/50 chance of inheriting the disease. I would test and abort. Not without pain and grieving, but for the chance to have a child with a hopeful future. I would not kill my son who I bore and raised, of course not. Wouldn't I miss him. People that follow that line of thinking are assuming that somehow I am choosing to eliminate a being that was . If he had not been born, he would not be known. Who would be known is the child that I would have that is hd free. He is the one that would grow up, looking toward the future with anticipation.
Visit HDSA.com to learn more.
I previously wrote: Only 15% of people at risk for Huntingtons Disease get tested according to Kimberly Quaid? I can tell you why...It's because people like Kimberly, whom I have spoken with while trying to get tested, ABSOLUTELY discourage testing. She and others that work within HDSA (huntingtons Disease Society of America) act like atrocious, miserly gate keepers to HD testing. They do the world and Huntingtons families a serious disservice. They should be ashamed for their control tactics. But instead with each passing discouragement, they become more and more pompous in their stance.
I understand what you are speaking about, as I am in the middle of an HD life myself. If testing where more supportive and encouraged, we could move beyond this and start testing our embryos, like the gentleman in the article. Physicians need to STOP putting their own ideas on a patients testing. Then we could move on to truly viable options like testing embryos.
Your in my prayers.
While carrying our second child, one of my wife's tests suggested something could be wrong with the baby. We went through test after test after test, and more ultrasounds than I can remember. Then we were set down with a genetic counselor who told us that it was highly likely that our child would be born with severe spina-bifida (open spine) or anacephaly (sp?--open skull). If he survived at all, he would have severe developmental and cognative delays. We were encouraged to abort. After all, we were told, we were young and could try again later.
That was more about 15 years ago. This morning I attended the honors breakfast at our local high school with my son. We decided not to abort him when told we should. When he was born, there was no sign of defect or impairment. At his six month well-child checkup, immediately after we had moved to a new city, we laughed when his new doctor commented on how straight and "perfect" his spine was. He not only developed the cognative abilities required to be a good student, but he is also a three-sport athlete (cross country, wrestling, and track).
It's hard to imagine that we were once counseled to end that pregnancy. I cannot imagine what life would have been like without him. While early screening and termination have reduced the number of children born with rare conditions, I wonder how many other otherwise healty children have been aborted because some test or other suggested "to a high degree of certainty" that they are afflicted by some condition.
Almost three years ago, after going through a pregnancy with only limited pre-natal testing (since we knew we could never abort), my wife gave birth to a boy who has been since diagnosed with a rare genetic condition called Sotos Syndrome. It is a condition that can be identified on specific genetic tests. If some knew such a child was coming, I'm sure they would have encouraged us to abort him. Yet since he has joined our family, I cannot express how much he (and his condition is part of him) has enriched our lives and the lives of those around us. Who am I to decide that a boy such as he did not deserve a chance at life?
Knowing what you know now, would you have a second child? Also, do you take governmental aid for this child? Your choice, but I don't want to pay for your choice.
And I don't want to pay for your insulin when you go on Medicare, van man. (You are more likely to develop diabetes than HikingStick was to have a child with Sotos Syndrome.) Hopefully HikingStick's older son, who is reportedly quite bright, will develop a cure for diabetes.
Quit pretending like we can control everyone's impact on society.
Hiking Stick gave an excellent example. I have had several friends who were told to end pregnancies because of deformities in the fetus or health risk to the mother. My friends chose to finish the pregnancies and the doctor was wrong in every case. When my OB offered genetic testing, she warned me that the tests were frequently inaccurate and often produced false positives for diseases.
Should some people get genetic testing to find out their risk level before they attept to get pregnant? Not a bad idea if your family has a history. I can't blame anyone for not wanting to create a situation where they will have to eventually bury their child. But knowing beforehand if you're high risk can bring up discussion for adoption instead.
And just because someone has a disability doesn't mean they don't deserve to live. I have friends who are parents of children with Down Syndrome, deafness, and other rare conditions. Their children are happy and bring joy to everyone who comes in contact with them. This life wasn't intended to be easy. It was intended to make us grow, and growth comes through difficulty, pain and opposition.
I believe the dna testing for the genetic diseases mentioned in the article is quite accurate. All that needs to be done is to identify whether one carries the gene or not. There are many heritble diseases or mutations out there; some can be easily and accurately predicted and others, as several have pointed out, cannot.
And in the end it is a personal choice.. not my choice, not your choice but the choice of the people involved.
That is the bottom line.
I am glad the technology exists to test for these genetic disorders. A classmate's newborn son died at 4 days old, in an unusual manifestation of a rare genetic disorder. Knowing her, she would not have chosen to abort even if she knew what was in store, but the grief that still consumes her and her husband is simply devastating. She talks about how she feels guilty sometimes, because she knows her son was spared years of suffering by passing away as early as he did. Most children with his disorder die slowly and painfully. They are now trying again to get pregnant, with the assistance of genetic screening and IVF. They are balancing their desire for a healthy child with an acceptance that nothing is 100% certain (as several posters have already proven with personal stories). This couple did not test for down's syndrome or other mild genetic disorders, only the devastating variety. I admire their courage and patience to do the best they can with the knowledge they have.
This is all very nice as long as such testing and any abortion is not mandatory. Unfortunately, socialised medicine will change that with the "whom gets and doesn't get what panels". Abortion on demand takes on a new meaning when someone else is doing the demanding.
Very interesting consideration.
What kinds of freedoms will we lose when others are suddenly paying for our care? What kinds of freedoms should we lose? Is healthcare really more important than freedom?
If socialized medicine forces a parent to have an abortion, that is a profound loss of freedom. If it forces us to pay for a smoker's lung cancer treatment, that is a profound responsibility on tax payers. There can never truly be freedom without responsibility. If medicine is funded by one giant pool, individual choices cease to have meaning. Maybe they won't even exist anymore.
On which planet do you spend most of your time?
What the hell are you guys talking about?
Ridiculous.
As the mother of a beautiful 9 year old son with cystic fibrosis, I am sadden by this article and the some of the comments. My husband and I already had two children who were both in their teens when we had our last child. When he was 3 years old, we were told he had cystic fibrosis, he has double delta f508 mutation, meaning both my husband and I carry that gene. This gene is one of the worst mutations plus to have it double means the disease progression is worse. It always is one of the most studied gene in CF research. Yet, our son is one of the healthiest cf patients at our cf clinic. Since being diagnosed, he has never been hospitalized. He is the light of our life and I CAN NOT imagine life without him.
I was 33 when I was pregnant with him and of course because of my "advanced" age, I was asked if I wanted to do the prenatal testing. I did not because it didn't matter what the results were, we would not abort.
My son was the inspiration for the newborn screening law in Arkansas and because of that law parents can find out a lot earlier than we did that their child has a disease like cystic fibrosis and can get started on the treatments earlier. If we had found out my son had cf while pregnant with him and had made the decision to abort him because we didn't want to deal with the health and financial issues, then that law in Arkansas may not be a reality yet. My son being born with cystic fibrosis has made it possible for other children to be diagnosed much earlier and have a chance to be healthier longer.
My son is already 'working on" cures for cf. He just might be the one to end the disease without ending lives before they ever get started.
Glad that your kid turned out good (so far)...however, given the chance, wouldn't you choose to have a child without this burden to carry? There's nothing noble about going out of your way to play a genetic lottery. I went to med school with a kid who had CF - finished school despite multiple hospitalizations, chronic IV Antibiotics, etc. - eventually died while in residency while waiting for a heart-lung transplant, ie. never practiced medicine. I gotta say, the governmental money that supported his education would have been better served bringing in someone without a known life-shortening disease.
van man,
Maybe the scholarship board saw him as a studious man who was less likely to go partying and die in a drunk driving accident than his fellow applicants. Lots of people don't finish medical school, due to accidental deaths - whether they are at fault or not - or just plain failure. Although there was an increased risk of death due to his CF, the kid you described had a vested interest in genetic research. I don't know if that's what his actual plans were, but a lot of researchers who make the most headway in treatments are those who suffer from the conditions themselves. Maybe the scholarship board saw his potential to make a difference before he died, and hedged their bets that he would make it that far. I don't think it was a bad investment, just one that didn't pan out.
Get out your crystal ball and recommend the next candidate for med school funding!
I would think that each one of us would choose to have a child without that burden to carry. But I don't think there are any "perfect" children who do not have burdens. Some parents my have children who have behavioral burdens. does that mean that child should have been aborted? We all have burdens. It seems to me that you are more concerned with government money being used in treating these children - not that they are capable individuals who could make a great contribution to our society. Who knows how many capable people who could have contributed to our society have already been aborted.
Yes, well some burdens are different from others. "We all have burdens", yes, but we don't all have fatal genetic diseases that kill us in hideous ways before we even know what it means to be human and alive. Who would be in favor of bringing a child into the world with THAT kind of burden?
I don't think people are suggesting that we avoid testing, or that carriers play Russian Roulette every time they have a child. I think they are just afraid of labeling certain people as "damaged goods" because they carry a gene for some well-known disease. It suggests that nothing else about the person matters - that their other genes, their personality, their desire for children are all irrelevant because their ONE GENE renders them unworthy of parenthood.
Let's keep it in perspective. Even if a couple shares the gene for, say, Tay-Sachs disease, there is only a 25% chance that their child will suffer at all. And yes, that child will suffer and die before the age of 5. But you know what? In some third world countries, a child has a higher chance of suffering from malnutrition, malaria, dysentery, AIDS and other serious diseases and dying before age 5. Yet we do not have mass campaigns labeling these impoverished parents, barely capable of surviving themselves, as unfit to have children. We send over mass amounts of aid to help their children. With genetic disorders, we blame the parents for daring to have the children in the first place, and complain about the cost of the medical care they receive.
I think people are also afraid of the "you weren't suppose to be born" mentality toward people with genetic diseases. Like their very existence was a mistake. And it's not. Those people, as well as their parents, deserve the same respect we give everyone. Obesity, schizophrenia, and autism are no walk in the park either! Genetic testing should be a tool to help people, not an excuse to judge them for having to face the challenge in the first place.
Oh my, JLM. Do you really think the difficulties faced by children in third world countries are the equivalent of a fatal genetic disease? I don't. As you say, the issues in third world countries can be addressed by massive aid. Fatal genetic diseases cannot. I just don't share your fatalistic attitude on this. I believe in the prevention of needless and pointless suffering. It has nothing to do with "you weren't supposed to be born". Those who are here we do what we can and accept and love them. That doesn't mean that we don't try to prevent future incurable suffering.
Depends on which genetic disease you are talking about. I would say that cystic fibrosis in the U.S. is a better life than being an AIDS orphan in Africa, suffering years of malnutrition before dying of malaria. I know a family with 3 kids who have cystic fibrosis (I don't know if they had more children after the first diagnosis or not). They seem fairly happy and well-adjusted. So many children in the world are born with no chance at all.
I'm not saying we shouldn't screen for genetic diseases, just that we should keep it in perspective. And I don't understand why a person would wait until after they were pregnant to screen for diseases, then abort. If you are concerned, get screened before you become pregnant. And I'm not saying that abortion, or even euthanasia, is necessarily evil in response to some of these diseases. I absolutely think it's cruel to let a child live with, say, Lesch-Nyhan disease or Tay-Sachs. But given the option, I'd rather they weren't conceived at all, versus terminated at some later time.
Some parents feel that even that kind of life has some happiness and would not interfere, and that is respectable too, as long as the child is getting the best care possible.
You wonder what sort of arrogant morons would want a family to have a child with a horrible disease? They should make everyone take these tests.
Anyone who disagrees should raise their hand to adopt a child with a serious birth defect or disease. Otherwise these hypocrites should stop criticizing people who are trying to be responsible parents and citizens in this country. Remember every family member pays a price for children born with a defect.
Also we all pay the price for people who knowingly have children that need gov't support; in higher taxes and health care costs. Also what happens to these kids when the parents die and there is no one left to take care of them?
Your ignorance is showing! I resent your abrasive comment. My daughter has CF and I don't believe in abortion and I wouldn't trade her in for anything! She will finish college in a couple of years and be a productivecitizen. Any child born healthy has a risk of an accident that could be devastating. No guarantees in this world. She will be more productive than alot of healthy lazy people I know!
"Also what happens to these kids when the parents die and there is no one left to take care of them?"
The same thing that happens to all of us when we get too old and decrepid to function independently. A nursing home. Should we stop having children, for fear that they will become elderly and depend on tax payer support someday? Because most of them will. We can't all have a quick, cheap death like a car accident.
For the record I am a right wing radical, and a Christian to boot. But I think this is great and there is nothing wrong with what these people are doing. As several have said this allows them to CHOOSE not to have children BEFORE pregnancy. In this cas they are acting responsibly, AND they are doing EXACTLY what God wishes. That is, they are using their minds and the intellect that God gives them to make moral choices. Sometimes defects cannot be determined before pregnancy and they come about only in the womb. Even though I am A christian and I think abortion is murder, nevertheless I support parents who make a reasoned choice to terminate pregnancy in the womb when the child will be severely deformed and suffer a miserable life. God will forgive. He is sovereign over his own law. He will support whatever a couple does out of love and care and a clean heart.
So I would advise all you brainless twit liberals that not all Christian are lock-step with the radical minority of Christians.
What is a radical Christian? Never met one!
Many of us liberals are also Christian (shocking, I know), so we are well aware that Christians are not lock-step. However, it is nice to be reminded occasionally that the right-wing is also not nearly as monolithic as the actions of the national GOP would imply.
I think every life, however young (even embryonic) or diseased, should be treated equally and with respect. That does not mean we have to go through the charade of leaving people on life support for 20 years, or spending millions of dollars extending the life of a sick child destined to die. It just means we should treat them well, and if abortion or even euthanasia is what is best for them - and I don't mean what is convenient for others - then that ought to be considered too.
Wanna bet Sarah Palin disagrees with genetic screening? Good for her if she chooses to get pregnant at a late age, increasing her chances of having the Down's kid she actually had, but don't tell me she's noble for doing so, and for God's sake, Sarah, practice what you preach and don't accept governmental services to help support your child, if you won't let the government pay for the abortion that someone else in your same shoes may choose!
She probably doesn't have a problem with screening as long as a baby isn't killed in the process!
Palin did get screened, and knew before Trig's birth that he would have Down's Syndrome. They can be wonderful children. There are certain challenges that they and their caregivers face, but they also have a tendency toward a sweet disposition, and that is a blessing. I know a man with Down's Syndrome whose parents helped him to become very independent and self-sufficient (a rarity), and he also has such a sweet personality. He is not very "bright," but his parents played to his strengths, and he has done well.
Saying that Down's Syndrome is a condition not worth living with is quite narrow-minded.
What people need to remember is that we all suffer mutations during development. Usually they form in the somatic cells, so they are not passed on to our offspring. Unless they occur very early in development, these somatic cell mutations probably won't even affect our lives. But when you are talking about the replication of billions of cells, you bet you are going to end up with at least a handful of mutations in the sex cells as well, which are passed on to your offspring. No one's body can replicate perfectly.
It is highly unlikely that you will have a mutation on the exact same gene as your mate, unless you are closely related. So you pass mutations onto your kids, but they are canceled out by your mate's intact genes, so the mutation is rarely expressed. And if it is, it's probably something benign, or maybe bothersome but never diagnosed. Maybe it's so mild that no one ever notices. Or maybe it will be a really serious mutation, like cystic fibrosis.
The point is, we all mutate and pass it onto our kids. It doesn't make us damaged goods, because it's perfectly normal. For whatever reason, some of these mutations end up being so common that you actually might find a mate with the same ones. Maybe it stems from a history of incest, which concentrated the mutation into a certain population (such is the case with hemophilia), or maybe the mutation became prevalent because it was actually beneficial in the environment where it originated (such as sickle cell, which confers partial resistance to malaria).
We can't screen for all mutations, because every single person has a handful of them. And there will always be cases of rare genetic disorders. At what point does the condition render a person's life unworthy? Is it when the person will suffer as a result of the disease, or when society will suffer as a result of caring for the person? And what degree of suffering renders a person's life unworthy? We all suffer physical and emotional afflictions, as a part of life. We all have something to contribute, too. Some afflictions are worse than others, but it is an awful big task to discern who can live or die. And in doing so, we are disregarding all the wonderful qualities that a person is bound to have. And you can't weigh the pro's and con's before a person is ever born. Who is to say that whatever is wrong with them is greater than whatever might be good about them? Most people want to live, even if they are plagued with disease. I don't know if we can call it ethical to make that choice for them.
CF can't be accurately screened due to the mutations.
That is true, only if you are talking about autosomal recessive, but for autosomal dominant disorders, even if one parent has the defect, the child will get the disease.
That would make me think that anybody with a autosomal dominant trait would not want to give birth to a child. Why do we as a society see sterilization as such a bad thing?
Autosomal dominant traits are rarer than recessive traits. (They code for a trait that is abnormal, whereas recessive traits fail to code for something.) The chance of an affected person passing the trait unto offspring, however, is higher than for recessive traits.
The need to screen for autosomal dominant traits is questionable. You cannot be a carrier without expressing the gene. So if there is any chance you will pass that gene onto your offspring, then you yourself would be symptomatic as well. (All you need is a diagnosis, not a genetic screening.)
Some autosomal dominant disorders are not expressed until later in life (like Huntington's), so there is technically an advantage to screening. But it raises another ethical dilemma: if the disease is unknown until late in life, then there is a lot of quality life to be lived. It seems drastic, on a moral level, to deny a wanted fetus the right to life simply because they may suffer a disease when they are older. Every one suffers as they get older, to various degrees. I would not say that it means their life was not worth living.
Sunnybunny, you do realize that most of the genome consists of autosomal dominant traits, right? They are what make your body function. Sterilizing people with autosomal dominant traits would mean the end of the human race. I assume you mean autosomal-dominant genetic diseases. But I have to ask: what exactly constitutes a disease?
Dark hair is autosomal-dominant. Dark skin is also dominant. It might be considered a negative trait in boreal climates, with limited winter sunlight, because melanin (which gives the skin pigment) interferes with Vitamin D absorption. Or we could look at it from a more "southern" point of view. Maybe we should screen for the recessive trait of light skin in equatorial climates, because less melanin means higher susceptibility to skin cancer. See how there are advantages and disadvantages of being dark or light, depending on your climate? At what point is it "disease"? Sickle-cell is considered a genetic disease worth screening for, and yet it confers partial resistance to malaria. It's beneficial, in the right circumstances. And we have labeled it a disease.
It's okay to eliminate sickle-cell anemia in malaria-free United States, but it's not okay to eliminate fair skin in skin-cancer-rich United States? It's a double standard to screen for some genetic conditions and not others. Who says it's not worth living with an increased stroke risk, but it is worth living with a susceptibility to skin cancer??
Again,may I point out the HUGE difference between Down Syndrome and Tay-Sachs? One is produces children who can and do living fulfilling, productive lives. The other is invariably and hideously fatal at a very young age.
Doesn't anybody see the difference?
Yes, but we are not only examining Down's Syndrome and Tay Sachs. We are considering every abnormality that can be detected before birth, and asking, "Where do we draw the line?"
Actually....hair and skin color are not dominant. Dominant/recessive only applies to single gene traits. When we are referring to whether a gene is dominant or recessive, we are referring to the interaction of alleles of that one particular gene (each person has two copies of each gene, one from each parent, which we refer to as "alleles").
Hair and skin pigmentation are not caused by a single gene, but by many different genes. Some of these genes have major effects, some minor, and some of these genes may interact with one another. The same applies to genetic diseases as well. Yes, many may be caused by a single gene and be either dominant or recessive. But others have more complex causes involving multiple genes, or possible genes and environmental interactions.
If I have any issues with genetic testing, it relates to this concept. We now have the ability to test for genes which may play a part in disorders involving multiple genes or environmental effects (a good example of this are some of the cancer-associated genes). These genes may have a large effect, and significantly raise the person's risk of developing cancer or a disease, however, but they cannot predict with 100% certainty whether the person will go on to develop cancer or that disease due to the involvement of other factors, such as lifestyle or environmental exposure.
My major concern with genetic testing involves whether the patient will be provided with adequate education and counseling to distinguish between knowing one has a risk for something vs. knowing one will actually develop something. Regardless of what one is testing for, it is very important that education and counseling be provided to explain and interpret the results.
That is my point exactly. There are differences and you can't generalize, either from Tay-Sachs or from Down Syndrome, or anything else along the spectrum. Just because somebody's child does well with CF doesn't mean that I have to bring a Tay-Sachs child into the world or else I am devaluing them. And just because my child dies of T-S doesn't mean that people with other diseases have to prevent those births. But we should all have the choice.
Ok I meant diseases and horrible ones not minor ones. Obviously I don't have the technical knowledge a lot on this board have. I would think you would know what I meant.
VAN MAN
seriously?? what about instead that kid didn't have cf but was perfectly healthy and while in residency was killed by a drunk driver? money still wasted?? Why is a person with a genetic disease any less valuable than a healthy person?
Depends on which disease you are talking about. I mean, if you are talking about Tay-Sachs, a genetic disorder where the child WILL suffer a painful short life and WILL die by the age of five, I challenge you to come up with a scenario, where the child's birth will have a positive impact.
Sickle Cell Syndrome is no walk in the park, either.
but how does either one make a child any less valuable?That was my point! Van Man responded to my comment about my son by saying he went to medical school with someone who had CF and he died while in residency before he could practice medicine and said the money spent on him going to school would have been better spent on someone who was healthy, meaning the guy with CF was less valuable than a person without any health problems. I hate that any child is born with a disease- I hate that my son has CF but my son's life is no less valuable than a child without disease.
CFMOM -- it sounds like you would have your child over again knowingly. And that is right for you. Can you not see that it would not be right for everyone? And can you not also see that you are focusing a huge debate on your own individual experience? When there is a rather large range of outcomes from genetic diseases, including yours with CF and others with extremes of suffering ending in death?
Nothing about this discussion devalues your son or negates your right to have him; but you don't have the right to decide what choice others make. Do you?
I am not making a decision for anyone else- I do not believe in abortion but I am not necessarily arguing against that right now. In my initial comment yes I was but right now and with my last few comments I am debating the statement VAN MAN made
"I gotta say, the governmental money that supported his education would have been better served bringing in someone without a known life-shortening disease."
To me that is saying the guy with CF was not worth getting an education just because he might die at a young age. I am on a yahoo group that has a man in his 70's and a lady in her 60's living with CF.
I understand there is a wide range of suffering- I know in our case- we have been extremely blessed that my son has not had many problems. I am not by any means making light of anyone's suffering. I just hate to see life devalued because they have a disease. Where does it stop then?
Oh, I see your point regarding your son's education being wasted. I agree with you on that. Once they are here with us, we need to do all we can to treat all humans fairly and well.
Our societies have turned into intellectual monsters. Intellectual on their terms of course. It is never ever OK to murder a child, whether inside the womb or outside the womb.
Maybe if stupid Palin had bothered to get tested, her child wouldn't have to have grown up with Down's. She could have had another later. I'm not saying she should have had an abortion, I'm saying she could have had some testing done to see what the chances were at her tender age.
Your comment makes no sense. Down's Syndrome is caused by a failure of meiosis (the splitting of an ovary cell to form an egg) resulting in an extra chromosome present in the egg, not from a genetic mutation (which results in a low-to-no function protein). There is no way to test a mother for this condition before she is pregnant. All women have a chance to produce eggs that have extra chromosomes. The older a woman is, the more likely that a pregnancy resulting from one of these eggs will be carried to term (younger women are less likely to produce such eggs and/or are more likely to spontaneously abort any resulting fetuses).
This article is talking about conditions caused by genetic mutations. The parents can be tested for these before a pregnancy, since they also carry the mutation.
Oh, be careful about saying that kind of stuff. You never know when your perfectly healthy child may get hit by a car and mentally damaged. That sort of thing happens. You so called non judgmental liberals are some of the most judgmental @$$***** i've had the misfortune to have to listen to.
In response to comments made by GK-298121.
Your opinion is not only unimportant being you know nothing about us, but if you would have read my comment completely you might have read the part that said it was OUR decision.
We are a couple, not a single mother or father. She was until we met, and I helped raise my step children, who are in their 30's and pretty much adults at this point. I have both grand kids and great grand kids by them.
Our child was a planned. Unlike so many accidents of passion, probably I included.
As for reproducing and who is takes care of the kids. I stopped after we had her (It still does take two to breed), and took a 50k/Yr drop in pay and became a work from home dad for the past 16+ years. And I feed clothed and changed her diapers for the 1st 4 while, Have yet to miss a birthday, recital or gymnastics event she's been in. I Put my wife through College as well as funded her startup of a successful preschool center.
And I have continued as her (Still married to her) Husband to work from home and take care of my daughter, as well as my widowed mother a niece and nephew from a black sheep drugged out brother, and a handicapped brother in his 40’s. As well as Help out at the preschool when time permits. In other words a Family, You know that thing that requires sacrifice and working together rather than name calling and gender attacks.
We both happen to love children and unlike many centers we work with many children of special needs who most centers do not have the training and will not accept.
Most of the mothers we see ARE single Moms with the occasional single Dad thrown in and even more rarely couples.
But with the Old school judges predominantly providing even drugged out Mothers preference over a Clean working Male in most custody battles in most states, so what do you expect. Not my opinion backed by national and state court statistics.
From the vehemence of your response I can only surmise that you are one of those unfortunate MAN hater's who always wind up with a looser or a drug addict as a mate or old, lonely and living by one’s self ,and would like the rest of the world to suffer as much as yourself.
I have seen far too many Men, and Women bail on their kids and spouses over the years, but will resist becoming bitter as you seem to have become.
Just remember Hate is a disease that will eat you up inside. Please, Move on and Get a life, and as Don Henley say’s “Get Over It!”
It won't be an "OUR" decision until science can make it feasible for men to carry deliver a baby.
Forgive my ignorance but isn't "inherited disease" a euphemism for inbreeding?
No.
All I can say is that one should be grateful to be able to have the chance for testing. The information and knowledge gained from testing enables people to make informed decisions for themselves and future offspring. There are many rare and debilitating genetic disorders for which no testing is currently available. There is a autosomal dominant neurological disorder that runs in my family. I would give anything to be able to know whether I have the gene or not in order to make responsible decisions, but I do not have that luxury of knowing.
I found that ideological talk about a person's value interesting. But I do think that you see things from a different perspective when you actually witness the pain and suffering resulting from these disorders first hand, especially when you do so with the knowledge that you have a 50% chance of inheriting the same disease. Also, another thing to keep in mind is that there is a range in severity between different genetic diseases. Yes, some may be manageable, but that is not an excuse to trivialize things, as there are other diseases which are extremely devastating.
Sometimes one has a selfish desire to have a child. But one also needs to take a realistic look at what kind of quality of life that child will have. My father re-married later in life when I was in college, and decided to have another child. Despite the fact that he was clearly displaying symptoms of his disease, they never considered the risk to the child, or what type of suffering she may potentially inherit. I find this level of ignorance and denial absolutely despicable. What absolute cruelness - to create life - only to sentence it to a life of misery, suffering, and pain.
I have seen a lot of misunderstanding in some of the other posts here. Although a possibility, genetic testing does not necessarily equate abortion. The pre-implantation genetic diagnosis screens embryos produced through IVF for genetic diseases. As with any regular IVF procedure, only 1-2 embryos out of a larger number are selected for implantation. This simply ensures that the ones selected will be healthy and free of disease. If you need to select a limited number of embryos anyway, why not select those that will not be destined to suffer?
Genetic testing may also mean giving a name or an explanation to someone suffering from unknown symptoms. For an infant diagnosed at birth or in-utero, it may enable the possibility of drug treatment or diet modification to minimize symptoms. Most importantly, it allows for one to plan ahead for their future and to make responsible, informed reproductive choices.