Genetic testing...achondroplasia

[futdoc08hopin]

post deleted

[cindersley]

Wow that is horrid. I wonder if THAT ACTUALLY HAPPENS IN REAL LIFE. Hmm... my first instinct is to recommend the couple to see a psychiatrist.

 

But I guess as a physician, the most I can do that is within the boundaries of professional conduct, is to try to discuss with the couple the reasons behind the decisions. To let them know the full consequences of their decision.

 

 

By the way, I didn't realize this before. So testing of genetic mutations is actually not provided to EVERY patient? Is that to prevent abortions?? Don't parents have a right to know if their children will have some serious debilitating disease?

[kaymcee]

Wow that is horrid.

Is it really that horrid? In the same way that my mom really wanted me to get my dad's curly hair—no luck, unfortunately—what's so bad about parents wanting their child to have dwarfism? I heard of similar scenario, perhaps fictional, with parents who both had congenital deafness who wanted their child to be deaf as well.

 

This is why, as a physician, value judgment can never influence your decision. Regardless of how silly something may seem when held up next to your own values, beliefs, and opinions, patients get to make their own decisions.

 

the most I can do ... is to try to discuss with the couple the reasons behind the decisions. To let them know the full consequences of their decision.

I'm sure that a couple with dwarfism has a pretty good idea about the consequences of their decision.

 

While I think the couple's decision is selfish and potentially a waste of resources, it's their money, and they should be granted all the genetic counselling, abortion, and in vitro fertilization they wish to endure to have their achondroplasic kid.

 

(edit to add...)

Articles:

Designing Deaf Babies and the Question of Disability

Are attempts to have impaired children justifiable?

Deafness, culture, and choice

Lesbian couple create a child who is deaf like them

 

I must be bored at work today...

[lost__in__space]

This was brought up in my ethics class but only with a deaf couple wanting a deaf child in a similar fashion,

 

see: "Are attempts to have impaired children justifiable?" by K W Anstey

[clkt]

I would do the test, but only tell them the result of whether the baby will die (homozygous) or not. But I won't tell the parents whether the child has the mutation. The idea of making your child carry a specific trait, especially one that causes a disability, just doesn't feel right to me. This sounds like a milder form of the good old scenario of Jehovah's Witnesses parents not wanting their child to receive blood transfusion.

[cindersley]

Wow, you guys all brought up some really good points that I never really though about. I do agree though that we shouldn't necessarily use our values to judge the patients.

 

And I dont' think dwarfism is so horrid. But the original post indicated that " fetus who is homozygous for the mutation will die shortly after birth or will be stillborn". Since both parents had the genetic trait, I thought that the chance of the baby's life being at risk is quite large.

 

I actually thought that the parents were purposely wanting their baby to die early. Which is why I thought it was so horrid.

[clkt]

Someone in my class felt exactly the same way clkt! I feel that if you're going to run the test you would have to give them the results - in full. Say the couple didn't tell you what they were going to do if their child tested positive for achondroplasia...you would give them the information in that case. So it's sort of big-brotheresque to deny them the information because of a choice they intend on making.

The couple could also turn around years later and sue you for not telling them...which would suck. If you're interested, I'll refer you to a case of a doctor choosing not to tell a patient about test results. You can Google "Pittman v. Bain HIV" and you'll get tons of information about this case where a Toronto family physician chose not to tell a patient he received blood products that were possibly infected with HIV

 

This was my mom's former GP...eeek!

 

Oh, I will definitely tell the parents before the test what answers I will provide them, and then leave it up to them if they want to take the test or not. If not, I will just refer them to another genetic testing clinic. Regarding whether the couple tells me what they plan to do with the information... That is like if you are in the States and you walk into a gun store saying I want to buy a gun to start a massacre...

I think even if the trait being tested here is blond hair if healthy, death if homozygous, I still won't release that information if I know the parents are selecting for blond hair. I have nothing against abortion though.

[cindersley]

Oh, I will definitely tell the parents before the test what answers I will provide them, and then leave it up to them if they want to take the test or not. If not, I will just refer them to another genetic testing clinic. Regarding whether the couple tells me what they plan to do with the information... That is like if you are in the States and you walk into a gun store saying I want to buy a gun to start a massacre...

I think even if the trait being tested here is blond hair if healthy, death if homozygous, I still won't release that information if I know the parents are selecting for blond hair. I have nothing against abortion though.

 

Hmm..would you tell the patients the real reason for why you're refering them to another genetic testing clinic??

[clkt]

Hmm..would you tell the patients the real reason for why you're refering them to another genetic testing clinic??

 

For sure! I will just tell them it is against my beliefs to select for a trait. I think you can refuse to perform an abortion and refer your patients to another clinic on the basis of your beliefs.

 

Edit: Oh, and if no other clinic around, I guess I will have to go to the ethics committee and go by their decision...

[cindersley]

I admire your integrity .

however, I think for me, I would not disclose my reasoning to the patient. As the doctor, being in a posistion of authority, I dont' think it would be appropriate for me to use my beliefs to influence the patient (whether intentionally or not).

 

What do you guys think about a similar situation, where parents want to test if their baby will have blue eyes??? If yes: abortion. If no: live. Firstly, can people test this in canada? Is that legal? Secondy, what would you do??

 

Is it ever appropriate to refer your patietns to a psychiatrist in these situations? For exampke, if from talking to your patients they disclose that they've always hated people with blue eyes, because of , say, a negative child hood experience.

[Jochi1543]

Is it really that horrid? In the same way that my mom really wanted me to get my dad's curly hair—no luck, unfortunately—what's so bad about parents wanting their child to have dwarfism?

 

Well, I think the "horrid" part is them wanting to abort it if it's healthy, not so much the wanting it to be sick.

 

 

 

I would also consider the child's wishes. How would it feel growing up and finding out that it was purposely "made" to have a serious health problem? Would the child wish it had been aborted and been a different person? I know for a fact that my father had pressured my mother to abort when she was pregnant with me, so it's something I think about at times - what would I be if I had not born at the time I was.

 

Also, another aspect of considering the child's wishes. By making it carry the gene you create the possibility of his or her future children having it. Will s/he like that reality? Just because his or her parents wanted their child to be handicapped doesn't mean s/he will.

 

I think it's just another example of political correctness gone too far, to be honest. I think it'd be safe to assume that most of us think that specifically wanting your child to be handicapped is ****ed up, but a lot fewer of us will admit this publicly for fear of being called insensitive and discriminating against handicapped people. You can talk 24/7 about how people with Down's syndrome or other serious genetic disorders apparently have a "fulfilling life," but show me a parent who would giddily jump around upon learning that his child has something like that.

[The Law]

Comparing down syndrome to dwarfism is pretty extreme I think Jochi... Perhaps the people who have dwarfism don't see it as a handicap.

[Jochi1543]

Comparing down syndrome to dwarfism is pretty extreme I think Jochi... Perhaps the people who have dwarfism don't see it as a handicap.

 

Yeah, but I'm talking in general terms, too - we've been discussing other diseases in this thread.

[ploughboy]

Yeah, but I'm talking in general terms, too - we've been discussing other diseases in this thread.

 

I guess the question is where does one draw the line. Ferinstance somebody earlier mentioned the Deaf community (note the capital D). As I recall from reading about cochlear implants last year, there are some quite militant members of that community who feel that they are most definitely not "handicapped" They argue very strongly against any effort to make them or their children "normal" and would in some cases prefer that their children be born deaf, so that the children can become part of Deaf Culture.

 

pb

 

Edit: err, I guess I'm a little late to the discussion with that point, as kay and lost seem to have covered this angle.

[cindersley]

Jochi brought up an interesting point. Is the unborn fetus considered a "patient" in this scenario. How does his rights weigh in with his parents wishes??

 

Jochi asked how the baby would feel knowing that he was "made" to have a disability. one can argue that dwarfism is not a disability. but i would say that in this case achondroplasia is debilitating because there is a 25% chance of death.

[agregson]

If faced with this dilemma in real life, I would be consulting an ethics board.

 

People chose to terminate pregnancies with "normal" fetuses all of the time. In a society that allows pregnancy termination can I as a physician tell someone that they cannot access that procedure because they would be terminating a non-achondroplastic fetus? I don't think so...just like I couldn't force them to have a termination if the fetus was found to have the double mutation.

 

Even though I might not agree with a person's decision, I cannot impose my beliefs on them. In the canadian law, a fetus does not have person status, and has no rights as such.

[drcave]

I would like to think that people with dwarfism would be more understanding and accepting, would realize that its what's inside that counts and not the package it comes in, and would happily accept a new person into their family whether they have dwarfism or not. Anyone know if this is a real situation? Anyone feel like watching Gattica again?

[ploughboy]

Anyone feel like watching Gattica again?

 

Love that movie! I'll bring the popcorn...

[Devari]

Comparing down syndrome to dwarfism is pretty extreme I think Jochi... Perhaps the people who have dwarfism don't see it as a handicap.

 

I guess the question is where does one draw the line. Ferinstance somebody earlier mentioned the Deaf community (note the capital D). As I recall from reading about cochlear implants last year, there are some quite militant members of that community who feel that they are most definitely not "handicapped" They argue very strongly against any effort to make them or their children "normal" and would in some cases prefer that their children be born deaf, so that the children can become part of Deaf Culture.

 

Sorry, but it's completely irrelevant how someone "views" their condition. If a condition results in any signficant abnormality or loss of function it's a disability. Simple as that. Too many people seem to have the idea that describing someone as having a disability is "demeaning" in some way. It's not. Having a disability is simply a matter of fact, not perception. Claiming that someone who is colourblind, for example, has no "disability" with regards to colour perception is simply incorrect. Same thing with deafness, heart defects, physical deformities, etc. These things aren't matters of "persepctive", they're conditions that can be objectively and unambiguously identified as abnormal.

 

With regards to the original topic, I think that the idea of wanting to have a child born with a disability is completely idiotic. I can understand where the desire comes from (i.e., the parents want to have a child who can relate to their own experiences), but it's a compeltely selfish motivation. In fact, it would probably be more accurate to describe the desire to have a child born with a disability as sadistic since the parents want their child to be deprived of a normal ability simply in order to make the parents "happy". The entire concept of wanting your child to have a disability is seriously one of the stupidest things I've ever heard.

[The Law]

Sorry, but it's completely irrelevant how someone "views" their condition. If a condition results in any signficant abnormality or loss of function it's a disability. Simple as that. Too many people seem to have the idea that describing someone as having a disability is "demeaning" in some way. It's not. Having a disability is simply a matter of fact, not perception. Claiming that someone who is colourblind, for example, has no "disability" with regards to colour perception is simply incorrect. Same thing with deafness, heart defects, physical deformities, etc. These things aren't matters of "persepctive", they're conditions that can be objectively and unambiguously identified as abnormal.

 

With regards to the original topic, I think that the idea of wanting to have a child born with a disability is completely idiotic. I can understand where the desire comes from (i.e., the parents want to have a child who can relate to their own experiences), but it's a compeltely selfish motivation. In fact, it would probably be more accurate to describe the desire to have a child born with a disability as sadistic since the parents want their child to be deprived of a normal ability simply in order to make the parents "happy". The entire concept of wanting your child to have a disability is seriously one of the stupidest things I've ever heard.

 

That does not change the fact that the person carrying the "disability" may not see it as a disability themselves. Just because you think it's a disability, that does not mean the person who has it thinks it's a problem. With dwarfism, maybe they have seen that life in fact goes on - even for a dwarf, and maybe certain aspects of that lifestyle are more appealing to them. In your post Devari, you make it seem as though having a child who's a dwarf would be like attempting to have a child who is on a path to an extremely short life!

 

I have decided, I think that it is up to the family to decide whether or not they want to have the child. I don't think it should even be an issue. If people can have abortions just because they don't want children, then why shouldn't a couple not be allowed to have an abortion because they want their kid to be a certain way. It's similar to how couples abort fetuses with chromosomal defects. In the end - it's their life, and their choice whether or not they'd like to keep the fetus.

 

Additionally, I might add - that I find it a little disheartening that people would abort a fetus simply because it's not the way they wanted it to be.

[Devari]

That does not change the fact that the person carrying the "disability" may not see it as a disability themselves. Just because you think it's a disability, that does not mean the person who has it thinks it's a problem. With dwarfism, maybe they have seen that life in fact goes on - even for a dwarf, and maybe certain aspects of that lifestyle are more appealing to them.

 

It doesn't matter how the person "sees" their condition. People with dwarfism don't have normal physical development (stature, bone structure, etc.). That's a medical fact, not an opinon. The person with dwarfism might not "think" it's a disability because they've had the condition their entire life, but that doesn't make their condition "normal". Same thing with someone who is born deaf, or blind, or with a heart defect. Having dwarfism, or being blind, or deaf, or having a heart defect isn't a "view point" or "opinion", it's a medical condition.

 

In your post Devari, you make it seem as though having a child who's a dwarf would be like attempting to have a child who is on a path to an extremely short life!

 

As I said above, wanting your child to suffer from an abnormal medical condition in order to allow the child to "relate" to the parent's condition is selfish and sadistic. I simply can't see how it could be rationalized or justified because it's based on the concept of depriving a child of a normal ability simply to give the parents some type of twisted gratification.

 

I have decided, I think that it is up to the family to decide whether or not they want to have the child. I don't think it should even be an issue. If people can have abortions just because they don't want children, then why shouldn't a couple not be allowed to have an abortion because they want their kid to be a certain way. It's similar to how couples abort fetuses with chromosomal defects. In the end - it's their life, and their choice whether or not they'd like to keep the fetus.

 

The current legal framework in Canada seems to support this concept since a fetus has absolutely no legal protection or rights, although I personally don't agree with it and think the laws should be changed. The idea that a fetus isn't a "person" while inside the womb but suddenly becomes a "person" simply by being born has no logical basis. However, this idea is related to the entire concept of abortion and in that sense I'm really getting into a separate argument here.

 

Additionally, I might add - that I find it a little disheartening that people would abort a fetus simply because it's not the way they wanted it to be.

 

Really, it's no more disheartening then the idea of aborting a fetus simply because it isn't "convenient" for the parents. As I said above, this is really getting into an entirely separate argument, but from a logical standpoint if someone claims that it's OK to abort a fetus "just because" then they can't turn around and criticise someone for aborting a fetus because it doesn't have certain physical characteristics. But as I said above, I don't think abortion is ethically defensible to begin and so that's really a separate issue. Regardless of whether an abortion is invovled the idea of wanting your child to be born with a disability is 100% wrong and simply can't be justified.

[Smurfette]

It doesn't matter how the person "sees" their condition. People with dwarfism don't have normal physical development (stature, bone structure, etc.). That's a medical fact, not an opinon. The person with dwarfism might not "think" it's a disability because they've had the condition their entire life, but that doesn't make their condition "normal". Same thing with someone who is born deaf, or blind, or with a heart defect. Having dwarfism, or being blind, or deaf, or having a heart defect isn't a "view point" or "opinion", it's a medical condition.

 

Disability is certainly socially constructed to some extent. Medicine is not a purely physical/biological thing - it has biological elements, but the social part plays a huge role. It's hard to see outside the box sometimes to realize that though because we've always lived inside the box.

 

Take for example, homosexuality. Until fairly recently, being gay was considered to be a psychological disorder and therefore a serious medical condition and therefore a disability. In today's society, I think you'd be hard-pressed to call a homosexual person "disabled."

 

As individuals, we're all different in different ways. Some people have genes that doesn't allow them to metabolize alcohol so they get drunk after 2 sips of beer. Certainly this prevents their ability to function in some ways. Other people might have a funny way of blinking their eye, which can be distracting during social situations. But we don't typically call such people "disabled" whereas we will call the quadriplegic and the deaf person "disabled". Why? What's fundamentally different between the "loss of function" associated with alcohol dehydrogenase deficiency and the loss of function associated with having dwarfism. The term "disability" does in fact incorporate not just a loss of function compared to being "normal" but also an element of social stigma.

[Devari]

Disability is certainly socially constructed to some extent. Medicine is not a purely physical/biological thing - it has biological elements, but the social part plays a huge role. It's hard to see outside the box sometimes to realize that though because we've always lived inside the box.

 

The "social context" of disability is really only relevant for certain types of minor conditions. For example, being near-sighted or far-sighted is technically a disability but since it is extremely common and can be easily accomidated with corrective lenses or surgery no one views it as a "disability" in modern society. But someone who has severely impaired vision or hearing very obviously has a disability because this impairs their ability to live a normal life. In that sense there's no way to "minimize" or "rationalize" certain types of disabilities because the loss of function is simply too significant. Dwarfism certainly falls into the category of a "significant" disability regardless of how society looks at it.

 

As individuals, we're all different in different ways. Some people have genes that doesn't allow them to metabolize alcohol so they get drunk after 2 sips of beer. Certainly this prevents their ability to function in some ways. Other people might have a funny way of blinking their eye, which can be distracting during social situations. But we don't typically call such people "disabled" whereas we will call the quadriplegic and the deaf person "disabled". Why? What's fundamentally different between the "loss of function" associated with alcohol dehydrogenase deficiency and the loss of function associated with having dwarfism. The term "disability" does in fact incorporate not just a loss of function compared to being "normal" but also an element of social stigma.

 

The obvious difference here is the degree of function that is lost. Being deaf or having dwarfism are both extremely significant conditions. Being unable to communicate verbally as a result of being deaf or having a significantly reduced physical stature due to dwarfism have profound effects on many fundamental aspects of a person's life. There's no way to argue with this because the significance of these conditions is completely obvious. Having impaired alcohol dehydrogenase function, on the other hand, is extrememly minor. There's a certain amount of common sense that needs to be applied when referring to something as a "disability". No normal person would ever consider a limited ability to metabolize alcohol to be anywhere near as signficant as being deaf or having dwarfism.

 

Take for example, homosexuality. Until fairly recently, being gay was considered to be a psychological disorder and therefore a serious medical condition and therefore a disability. In today's society, I think you'd be hard-pressed to call a homosexual person "disabled."

 

This isn't really a straighforward topic at all, but since you've brought it up I'll address a few points. First of all, in order to have any meaningful discussion on this topic it's important to distinguish between whether you accept a primarily physiological explanation for homosexuality or if you consider it primiarly psychological. I suspect that in some cases it's physiological and in other psychological, but for sake of argument let's assume that it's psychological since that's what would have been assumed when homosexuality was considered to be a psychological disorder. In this case, the "psychological condition" of homosexuality is viewed as a condition that prevents the person from having a normal sex drive despite having no physical problems (i.e., no hormonal or developmental issues that would affect their sex drive). In that sense the psychological classification was simply due to the fact that it's clearly an abonrmal behavior with no obvious physical cause. Political considerations in modern North American society have since resulted in the reclassification of homosexuality a "lifestyle choce", so it's now impossible to view the condition in a medical context without offending someone. Personally, I think that the issue would benefit from proper scientific study because from a biological perspective homosexuality is clearly abnormal and therefore has medical relevance. But this is really taking the discussion into a totally different topic that really isn't directly relevant to the original question.

[Artemis]

I agree with the Devari that one's opinions on abortion are an integral part of how he or she will feel about such a situation. I myself am against abortion, and for that reason among others I think this is wrong. I think it is sad that this society only considers someone a "person" after they've come out of the birth canal. As a side note, it's interesting to note how often in my biology, zoology and genetics lectures the prof will mention something about an embryo being "the first stage of life" or something like that. If you listen closely, professors often refer to a fetus as a life, but when the issue of abortion comes up, suddenly it's just a "thing" the mother can readily dispose of at her convienience. All of us here were once a fetus - we did not come from a fetus, we once were a fetus. We were simply at an early stage of development. Life, after all, is a continuum.

 

Having said this, I would understand the couple's desire to have a child like them. In relation to Deaf people, I as well have heard it described more like a culture than an impairment. Someone said it's kind of like being francophone - and they too feel strongly about their culture. But despite this, engineering your child to have a genetic defect is wrong and though I hesitate to say it, selfish. Parents should be putting their child's best interests first, especially when it comes to their health. The first thing parents should want for their child is for him or her to be completely healthy. With the deaf issue, parents who delibertely make their child deaf are essentially depriving her of a sense. That person will never be able to listen to music, never hear the voices of loved ones, never hear the sounds of nature, etc. Although it's true you wouldn't miss it if you never had it, that person could have potentially had it, and that's the issue at hand.

 

In addition to this, you have to consider that when you start to play around with genetic engineering, you really start to mess with things from an evolutionary point of view. Suddenly, it's us are choosing which traits are selected for! Really, we have no idea really what implications this could have on future generations - especially if it goes even further, and parents become able to select for all sorts of traits. In China right now there's a big problem with gender selection, and that's not even with genetic screening or anything! (if the mom finds out she's pregnant with a girl and wants a boy, she simply terminates her) Parents designing their children to have "desirable" traits (or designing them to not have "undesirable" traits) is just wrong and should not be done. In one class on ethics and genetics, our prof talked at length about eugenics in Nazi germany as something for the students to think about in relation to this. Although it is of course on a different level, the idea of controlling what type of people that are born is not new, and can be very dangerous. My overall opinion: leave the gene pool alone.

[The Law]

Disability is certainly socially constructed to some extent. Medicine is not a purely physical/biological thing - it has biological elements, but the social part plays a huge role. It's hard to see outside the box sometimes to realize that though because we've always lived inside the box.

 

Take for example, homosexuality. Until fairly recently, being gay was considered to be a psychological disorder and therefore a serious medical condition and therefore a disability. In today's society, I think you'd be hard-pressed to call a homosexual person "disabled."

 

As individuals, we're all different in different ways. Some people have genes that doesn't allow them to metabolize alcohol so they get drunk after 2 sips of beer. Certainly this prevents their ability to function in some ways. Other people might have a funny way of blinking their eye, which can be distracting during social situations. But we don't typically call such people "disabled" whereas we will call the quadriplegic and the deaf person "disabled". Why? What's fundamentally different between the "loss of function" associated with alcohol dehydrogenase deficiency and the loss of function associated with having dwarfism. The term "disability" does in fact incorporate not just a loss of function compared to being "normal" but also an element of social stigma.

 

Yeah, it's true. Perception of disability is somewhat a social construct. It's what people feel that they would not want to have - however, some people may like the way they are. Not everything is as objective as devari seems to claim, in my opinion. Some disabilities are less severe than others, and I think dwarfism is one of those. The social stigma attached with having dwarfism, carries far more implication in the lives of these people than medical condition associated with the disease.

 

In that sense the psychological classification was simply due to the fact that it's clearly an abonrmal behavior with no obvious physical cause. Political considerations in modern North American society have since resulted in the reclassification of homosexuality a "lifestyle choce", so it's now impossible to view the condition in a medical context without offending someone. Personally, I think that the issue would benefit from proper scientific study because from a biological perspective homosexuality is clearly abnormal and therefore has medical relevance.

 

How is it abnormal biologically? You may think it may be, due to natural selection - however genes associated with homosexuality may perhaps be associated with other genes that cause them to continually be transferred (correlated progression). Additionally, carrying such genes may not automatically result in homosexuality either, so would not reduce a person's "biological fitness" necessarily. I have a feeling this is going to spin off the topic... lol