Genetic Diseases- would you risk children?

[latte_lover]

Hello everyone.

I got hit with a little bit of hard news this week. My finace'' found out that he has polycystic kidney disease (PKD). This is a genetic disease that runs in his family. His mother and uncle are his two closest relatives who have had it. His sister was tested and does not have it, but my finance'' does.

Basically, this disease progresses very slowly and does not take full effect until your mid-40''s to 50''s at which point, you lose kidney function, and are forced to undergo dialysis until you can receive a kidney transplant. There is no other treatment for it and no way to slow the progression. Both his mother and his uncle have had successful kidney transplants but they had to sacrifice a lot while undergoing dialysis.

His mother didn''t know she had the disease until after her first child (my fiance''s sister). I think she knew when she was pregnant with my fiance'' but decided to have him anyways. The risk of passing it to your children is 50%, which is pretty high, since it''s a autosomal dominant trait, it only takes 1 bad gene to get it.

While this isn''t the worst genetic disease by any means and it is 100% treatable (although not fun at all) those with PKD do have a somewhat decreased quality of life. With end stage renal failure, you''re on many medications, undergoing about 12-15 hours per week of dialysis and on a very restricted diet (no potassium containing foods like tomatoes, potatoes, or most fruit) and fluid restriction.

My finace'' and I really want to have our own children in the future, but I would hate to knowingly put one of my children through this one day. On the other hand, I am SO thankful that my fiance''s mother decided to have him. He means the world to me and I think this had brought us even closer. She''s feeling very sad and guilty right now for knowing that she caused it.

What would you do?

 

[VRBeauty]

Hi LL - that's quite a quandry you're posing there. The first question that comes to mind is whether this disease is something that can be identified in utero... and whether that would be a consideration for you and your husband-to-be. The second is that an illness that doesn't manifest for 40 - 50 years is quite different from a condition that manifests in infancy or childhood, if only because there is the possibility that a cure, or at least better treatment options, might available by the time your child would reach that age. At a minimum I think you would see advancements in transplant technologies by then. Finally, there is the question of whether and when your husband might show symptoms... if I knew this were in the offing for me or my spouse, I think we'd want to start our family (whether by conception or adoption) -- or decide not to have children -- sooner rather than later.

I'm sorry you and your fiance are having to face these questions.

((((hugs))))

 

[JulieN]

No, absolutely not.

 

[Lorelei]

Date: 4/26/2009 4:37:11 AM
Author: JulieN
No, absolutely not.

I agree.

 

[Pandora II]

My husband also has an autosomal dominant genetic condition - hereditary spherocytosis. Again a 50% risk - of DH and his 3 brothers, 3 of them have it and DH has it the most severely.

Your blood-cells are spherical rather than donut shaped and so don't carry oxygen in the same way. Your spleen recognises them as 'old' cells even when they are brand new and so works overtime. DH had both his spleen and gall-bladder removed due to it, and has permanent anaemia and is very tired a lot of the time.

It can provoke very extreme jaundice in neo-nates and women with the condition can have a lot of problems in pregnancy.

Added to which, the lack of spleen has severely compromised his immune-system: he had flu 6 times last year.

I also have two genetic conditions - Severs Disease and bipolar disorder.

The Severs Disease causes the bones in your heels to fracture during childhood - I spent two years in and out of plaster-casts every 6 weeks (my father had it equally badly).

I have Bipolar Type II (as do a large number of my realtives) and my DH's father has Bipolar Type I.

We had extensive genetic counselling, and none of the conditions can be picked up by screening before birth.

Daisy will have cord-bloods taken at birth and they will treat even mild jaundice very aggressively from the start. They have warned me that we many not get a result until up to 6 months after birth. However my hospital is the leading centre in the UK for Sickle Cell so they have a fantastic unit and they will see her there if she does have it on an on-going basis throughout her life.

With the bipolar disorder, DH and I will try to reduce risks of the genetic pre-disposition kicking off and have done a lot of research into teaching CBT techniques very early on so as to increase coping capabilities.

For the Severs, there are now exercises that can be done from infancy to reduce the risk of problems and I am get help from a physiotherapist on how to do these at home.

We considered that the relative risks were all liveable with - and were backed by all the doctors we were seeing in our choice. Due to my bipolar disorder we would not be allowed to adopt (I don't know what the rules are in the USA, but your SO's health condition would probably preclude adoption here in the UK) and frankly I would rather have a child where I knew what the genetic problems could be rather than one where they were completely unknown!

If DH or I were carriers for diseases like Tay-Sachs, Cystic Fybrosis, Huntington's Chorea (which died out in my father's family with my grandfather's generation) or others that had very severe consequences for mortality or quality of life, then I would want to do pre-screening and CVS.

ETA: In your situation, I would get as much advice as I could from the genetics department and from experts in this condition and make your mind up from there. I do agree that in 50 years from now it may be completely treatable.

It's also worth remembering that many disorders can be complete freaks of nature - there are no certainties and all you can try to do is minimise known risks.

Good luck!

 

[ahappygirl]

Personally, if PKD was the issue, I''m not sure if I would have kids or not. I would meet with a genetics counselor and find out all the options, honestly. Would not rule it out at all.

Huntington''s - no way. It''s fatal 100% of the time. I have a close friend whose mom and brother had the gene. I would never choose to have a child with a disabling disease but I also know life can give you a "healthy" child that develops a major medical issue later - genetics, illness, injury - whatever.

By the way, I have a child with a major medical problem I found out about super early in pregnancy. He has a wonderful life and is loved beyond description.

 

[Pandora II]

Date: 4/26/2009 8:27:16 AM
Author: ahappygirl
Personally, if PKD was the issue, I''m not sure if I would have kids or not. I would meet with a genetics counselor and find out all the options, honestly. Would not rule it out at all.

Huntington''s - no way. It''s fatal 100% of the time. I have a close friend whose mom and brother had the gene. I would never choose to have a child with a disabling disease but I also know life can give you a ''healthy'' child that develops a major medical issue later - genetics, illness, injury - whatever.

By the way, I have a child with a major medical problem I found out about super early in pregnancy. He has a wonderful life and is loved beyond description.

Huntington''s they can now pre-screen for. We were very lucky - out of my grandfather, his two brothers and one sister, not one of them had the condition so it has now completely died out.

I am someone who would not choose to bring any child into the world who would have a greatly reduced quality of life. I would terminate for Trisomies for example, so it was not something that DH and I didn''t put several years of thought and research into.

Each case and condition must be weighed up on it''s own risk profile and ultimately every parent makes their own choice.

 

[phoenixgirl]

I don''t think there''s a right or wrong answer since this is a disease that is 100% treatable, and in the 40-50 years it takes your future children to develop it, there may even be a cure by then. Worst case scenario, the child would go through the same treatment as your FMIL, her brother, and your FF. Your FF wouldn''t wish he hadn''t been born because of having this condition, right?

But on the other hand, if you choose to adopt, I bet your love for your adopted children will be so great that you couldn''t imagine being without them either.

There are no guarantees, and you could always wind up having a child that doesn''t get this gene, only to have another disorder or disease. You can''t make sure your children never suffer or always have the highest possible quality of life every second of their lives. Maybe I''m influenced by being pregnant, but if it were I, I would still have natural children. I opted not to have the cystic fibrosis testing because even though that greatly reduces your life expectancy and involves a lot of suffering, I couldn''t terminate a pregnancy knowing that the child could have a meaningful life.

I wish you and your FF luck whatever you decide, and I''m sorry you have to have this complicating factor.

 

[vetrik]

I wouldn''t rule it out right away. I would first want to meet with a genetic counselor and go over all the options and risks.

I believe there are a few things you would want to look at to see if they would work for your situation. I know that they can now do preimplantation genetic testing (PGD) on embryos, and they are able to avoid implanting embryos that carry genes for certain inherited diseases. Although it means doing IVF, if they are able to prescreen for your FI''s disease, it would be a way to insure that your children would not carry the gene for the disease.

I would also want to know if there''s anyway to determine during prenatal testing if a baby was carrying the gene. If you could, that would lead to discussion about what you would do at that point, if testing showed that the baby has the gene. However, I think it''s a very good point that has been brought up that you''re looking at least 40-50 years down the road before any of your children would be requiring treatment, and no one knows what advances will have been made by then.

I would also look into adoption very seriously - I think that could be a wonderful option for having a family.

I think what would most bother me most personally is that there is a difference between getting pregnant without knowing that you could be passing down this disease, and getting pregnant knowing that there is definitely a 50% chance of the gene getting passed down to the baby. There''s always a risk when you have kids that there will be medical issues, and at that point you just have to deal with what comes along. Knowing ahead of time, before you even get pregnant, makes it a whole different proposition for me.

This is a really tough question, and I really don''t know what I would do. Your FI''s opinion will also be very helpful, since he in is the position that your hypothetical children could be, having found out that he does have the gene.

 

[Tacori E-ring]

No, I would not take the risk.

 

[VegasAngel]

Oy, tough one. I would say no, I would not take the risk but who know what advancements will be made in the medical world.

 

[latte_lover]

Thank you all for your responses, and as you can imagine- I''ve toggled with it this week- a lot. Part of me thinks its selfish to have children knowing, but part of me thinks it''s unselfish to devote myself 100% to another person and make sure that they get the best out of their lives.

It would take me a while, but I would maybe consider adoption down the road. It just kills me to think that my perfectly capable body as a woman would never have the opportunity to experience the joys of pregnancy.

Another consideration is this- neither my sister or my fiance''s sister are looking at having children at this point, so if my fiance'' and I don''t have biologic children, both of our blood lines end with us, and that''s a VERY sad thought for me.

If it were any devastating genetic illness like Huntington''s or cystic fibrosis, I wouldn''t consider because those poor children just have a horrible life. With PKD, my finace'' has grown up completely normal, has been healthy, is very smart and athletic, and just a joy to be around and to love. He loves his life and is very glad that his mother had him, despite knowing what he''ll face one day. At least with him knowing now, he can do whatever it takes to give him the very best outcome- may it be stay in shape and make simple lifestyle modifications.

Right now, his mother is doing GREAT. PKD is by no means a death sentence- people can live normal healthy lives post-transplant and even on dialysis they can still work, exercise, vacation, etc.- they''re not bedridden and ill. When his mother was on dialysis, she still cooked all the meals, worked part time, vacationed at Disney World, volunteered at church, got exercise, etc. I think because of her disease, she has gotten more out of life than most people do because of her perspective. She is so positive and so patient.

This is why I struggle- I want to have children of my own badly, but I would hate to put my adult-aged child through dialysis and transplant, but the people that I know with PKD are amazing role models and very happy individuals who are very capable in life.

I guess I just needed to talk to different people and gain perspective on the issue. We certainly won''t be making the decision to have children for several more years. I just hit me hard because I want children one day and I don''t know whether I should give up on the dream or not. Keep the comments coming- they help.

 

[LostSapphire]

Such a hard decision...I don't think there is a right or wrong answer.
(ETA: this was a great question, and my family was just here for brunch so we had quite a discussion about it.)

In my case, I was diagnosed with a congenital hip dysplasia at age 25. What I had was a hip socket that was not fully formed, and my hip failed midway through my 20s. It was fixable, but I ended up having 2 hip/pelvic reconstructions (not hip replacements but full-on bone work), and numerous other orthopaedic stuff. Spent a few years in a wheelchair, including almost up to my wedding day. (side story: I was healthy enough to consider a wedding, but on our honeymoon the hip failed again and I returned home to surgery and another 2+ years of recuperation).

The hip condition runs in our family on my dad's side. But we didn't know about it until after I was diagnosed. Both of my grandparents on my father's side were only children, and neither of them had hip issues. It was only after my surgeries that my aunts and uncles all started having hip problems in their 50s. Mine just came on early.

My brother's daughter had the same problem, except her dysplasia was much more pronounced at birth. So she had her hip/pelvic reconstructions done at the tender age of 3. I felt so bad for her at the time, but she is now 100% good.

Both my niece and I know with great certainty that in our later years we will need hip replacements on both sides. So far, I'm 52 and manage to keep healthy enough to avoid it, for now. But that day will come, no question.

So back to the original thought: I asked my Mom and Dad if they would have had children. It was hard for them to answer because I was the only one of 7 children to get the hip thing at such an early age. Disabilities or health conditions don't ALWAYS appear in spite of there being a pretty sure chance of them....

My dad always says that he didn't buy the 'extended warranty plan' on me....and mine expired far too early. (warped sense of Irish humour, what can I say?).

So I asked my brother, as he knew of my hip dysplasia before having his daughter. They had agonized over the decision as well, but when they saw that after about 6 years of surgeries and mobility issues I turned out reasonably well, it was worth bringing a child into the world.

I have to say I have never felt the urge to blame my parents for having me. But I DO have more medical issues than all of my 6 siblings combined. Would I trade that off in hindsight? NO. The medical stuff is just part of who I am and I manage quite well in spite of it. I think, in fact, I am a far stronger person having spent the majority of my life in between major surgeries and serious illness. It helps to have a wicked sense of humour as well.

I think my personal opinion would be to defer on the children if the risks were extremely high for severe disabilities at birth or childhood. For long term stuff (ie: adult-onset anythng) we are all susceptible to illness be it age-related, congenital, or just plan bad luck.

LS

 

[Amandine]

My sister had cystic fibrosis, so this has always been a consideration for us. My DH also has a disabled sister, but they do not know if it was genetic, birth defect or something else...just to make this all more difficult!

We will undergo genetic counseling and be tested before TTC. If I am a CF carrier, and DH is not, then we will proceed. If we both happen to be carriers, then we will look into adoption.

My sister had it difficult growing up, but it was just an accepted part of our lives. We didn''t realize our family was different until we were a little older. Her "treatments" for 45 minutes twice a day were just our normal. While she did have a relatively mild case growing up, it still did take her from us at 24, and I would not choose to put a child and my family through the hardships, heartbreak and hospitilizations if I had a choice.

 

[risingsun]

Date: 4/26/2009 10:04:21 AM
Author: latte_lover
Thank you all for your responses, and as you can imagine- I''ve toggled with it this week- a lot. Part of me thinks its selfish to have children knowing, but part of me thinks it''s unselfish to devote myself 100% to another person and make sure that they get the best out of their lives.

It would take me a while, but I would maybe consider adoption down the road. It just kills me to think that my perfectly capable body as a woman would never have the opportunity to experience the joys of pregnancy.

Another consideration is this- neither my sister or my fiance''s sister are looking at having children at this point, so if my fiance'' and I don''t have biologic children, both of our blood lines end with us, and that''s a VERY sad thought for me.

If it were any devastating genetic illness like Huntington''s or cystic fibrosis, I wouldn''t consider because those poor children just have a horrible life. With PKD, my finace'' has grown up completely normal, has been healthy, is very smart and athletic, and just a joy to be around and to love. He loves his life and is very glad that his mother had him, despite knowing what he''ll face one day. At least with him knowing now, he can do whatever it takes to give him the very best outcome- may it be stay in shape and make simple lifestyle modifications.

Right now, his mother is doing GREAT. PKD is by no means a death sentence- people can live normal healthy lives post-transplant and even on dialysis they can still work, exercise, vacation, etc.- they''re not bedridden and ill. When his mother was on dialysis, she still cooked all the meals, worked part time, vacationed at Disney World, volunteered at church, got exercise, etc. I think because of her disease, she has gotten more out of life than most people do because of her perspective. She is so positive and so patient.

This is why I struggle- I want to have children of my own badly, but I would hate to put my adult-aged child through dialysis and transplant, but the people that I know with PKD are amazing role models and very happy individuals who are very capable in life.

I guess I just needed to talk to different people and gain perspective on the issue. We certainly won''t be making the decision to have children for several more years. I just hit me hard because I want children one day and I don''t know whether I should give up on the dream or not. Keep the comments coming- they help.

My comments are meant with kindness. Please consider the reasons for having a child and let it be about the child. Speak with some people who have been on long term dialysis, kidney transplant recipients, and a genetics counselor. Attend some support groups. Learn as much as you can about the life your child may lead. Be able to make an informed decision. That''s the best advice I can offer.

 

[ljmorgan]

I just wanted to add that PKD is one of the diseases that can be prevented with combined PGD/IVF. They can implant you with the embryos that do not have PKD (since roughly 50% of the embryos you make with your husband will not have PKD.) That is just one more option that you could consider.

 

[LaraOnline]

Could you consider having IVF with donor sperm? Tat''s a bit of a hardcore suggestion, isn''t it. I''m not at all sure I would consider that advice myself. But it is possibly an option for you.

I wouldn''t be so down on yourself for wanting a child, regardless of your FI''s condition.
Having children is a process, and one that imparts a great deal of pleasure, but also personal growth, to the adult participants in the process.

Do you think your FI wishes his mother had never had him? What does your FI have to say about this issue?

I''m not sure that conceiving, and then aborting, foetuses that happen to carry the gene would be a totally acceptable solution to me. However, if you are serious about avoiding the disease altogether, (and many people would probably see that as the most responsible thing, so as to avoid your own situation for another girl down the track) it may be the only choice you have, if there is no way that IVF can screen fertilised eggs (fertilised by your husband, that is) before they are inserted into your body...?

 

[purrfectpear]

Genetic selection of non PKD embroyos yes. Throwing the dice on a 50/50 chance of inflicting a child with PKD, absolutely, positively not.

I cannot fathom anyone who would knowingly sentence a child to a disease that is 100% fatal without a transplant. They would be living a life knowing they have to be on a transplant list, dialysis, and take a cocktail of medicine for the rest of their life, and additionally faced with the same decision of having children with the disease or not.

I could not do that to a child.

 

[Steel]

I think it is a personal decision.

I commend you for asking the question of yourself and your FI now; whatever you decide.

 

[cara]

Assuming funds are available, genetic selection of embryos without the disease would be my preference. But IVF is expensive. I''m guessing that a cheaper method would be getting pregnant the old fashioned way and then screening the fetuses once pregnant and possibly aborting those with the disease, but aborting fetuses is a whole different ball of wax for most people than selecting genetically-screened embryos for implanting via IVF.

This is one of those hard things about getting genetic information - in some instances I think you have an obligation to use the information once you know it and this may affect the course of your life/your potential children''s lives where without the information you would not have had the same obligation.

If you have objections to aborting your potential child (which many people would find very difficult) then I think you have an obligation to find the money for IVF and pre-screening.

If you have objections to IVF and pre-screening embryos (which some people do) then I think you are left with adoption or a sperm donor.

But perhaps I am misestimating the severity of the disease - is this what you are getting at? If you are considering playing the odds with unscreened, naturally conceived children, I would think long and hard about this one. What does your FI think? Obviously its hard because he has only recently learned he has the disease and presumably he hasn''t had any significant medical consequences yet. And now you are considering what lengths you and he would go to to have a child *unlike* him in this respect. But looking at his mother, and other family members with the disease, does he think that he would feel good about passing on this trait to a child knowing that there are other options available to him? The example of Pandora and her husband is really illuminating here - they have a number of potential genetic issues but have done there research and are comfortable with the potential consequences to their child and the treatments available to her. They also know where their line is for more serious genetic diseases in terms of knowingly bringing a child into this world with a compromised lifespan or quality of life. It is for you and your FI to consider where your line is and what medical interventions you are comfortable with if you decide to have biological kids.


Just a question on your family members with PDK that went on dialysis - what has been the outcome thus far? Have any passed away, did they receive transplants, etc? I thought the average life expectancy for someone on dialysis is only a few years unless they got a transplant, but I suppose it could be longer for some diseases or people...

 

[neatfreak]

I''d do pre-screened IVF or adopt personally. But that''s just a personal choice that only you can make for yourself.

 

[E B]

Date: 4/26/2009 1:51:52 PM
Author: neatfreak
I''d do pre-screened IVF or adopt personally. But that''s just a personal choice that only you can make for yourself.

I agree- these would be my two choices. IVF can be expensive depending on how much is covered by insurance (if any), but I''d need to know I did all I could to prevent my child from inheriting the disease. I wish you the best of luck on your decision.

 

[MichelleCarmen]

Date: 4/26/2009 1:57:00 PM
Author: EBree

Date: 4/26/2009 1:51:52 PM
Author: neatfreak
I'd do pre-screened IVF or adopt personally. But that's just a personal choice that only you can make for yourself.

I agree- these would be my two choices. IVF can be expensive depending on how much is covered by insurance (if any), but I'd need to know I did all I could to prevent my child from inheriting the disease. I wish you the best of luck on your decision.

I don't understand the adoption alternative because by adopting a baby, there is still a chance that he/she will have some sort of genetic disease that will be discovered at some point.

I'm not sure what I would do with PKD because aside from your post here, I know absolutely nothing about it. While pregnant with my first son, I developed Gestational Diabetes and discovered that diabetes runs in my family and that my children would be at risk. I still decided to have a second child so yes, I did have a child knowing of risk. Both of my kids are fit and active, so hopefully they never become sick with it.

 

[naeem]

Consider adoption. It can be a great alternative.
Find out more about this disease. There must be more than you know now.
I studied genetics in college. Some traits skip generations. Maybe your issue does do.
Your parents or his parents might have had it but it would skip you and your husband and go to your kids, so you would not want this. If your mother or your husbands mother passed it to one of their children, then the grandkids could be safe.
Talk to a genetic expert at a major research center.
Consider an egg donor or sperm donor, this way your child is at least half yours or your husband''s and this might be better than adoption.
Adoption you would be taking a child who needs parents.
Having your own and risking the disease is again like adoption, it''s a call from God.
If God gives you a child that has the disorder, then he chose YOU and your husband for a reason. Would you reject your own child because of the disorder or give the child every ounce of your love for as long as you or the child shall live?
Maybe God wants you to adopt a child.
Talk to God, speak to a genetic expert, etc.

 

[Maisie]

I found out I am a carrier of a genetic condition called Fragile X Syndrome... after I had my last child! If I had known about it before I don''t think I would have risked having children.

Two of my children are not affected. The youngest one is also a carrier and I have two who need the test when they are older. My sister is also a carrier and two of her 3 children are affected.

 

[cara]

Date: 4/26/2009 4:36:05 PM
Author: MCI don't understand the adoption alternative because by adopting a baby, there is still a chance that he/she will have some sort of genetic disease that will be discovered at some point.

I'm not sure what I would do with PKD because aside from your post here, I know absolutely nothing about it. While pregnant with my first son, I developed Gestational Diabetes and discovered that diabetes runs in my family and that my children would be at risk. I still decided to have a second child so yes, I did have a child knowing of risk. Both of my kids are fit and active, so hopefully they never become sick with it.

Its a matter of the level of risk (say 5% versus 50%) and a matter of choosing to bring into the world a child with a known, high risk of having a certain disease. For couples with very bad odds on the genetics of their biological children, it might be that an adopted child of unknown genetics is at much lower risk of having *any* serious genetic disease than a biological child of the couple. But secondly, someone else made the decision to bring the adopted child into the world. That child exists already, so whether or not it has an unfortunate genetic disease is already determined and not the result of any action taken by the potential adoptive parents. If those parents were to have a biological child knowing that their genes are likely to cause the child to have a horrible disease, I think that is a qualitatively different decision than adopting a child, even if the child ends up having a horrible genetic disease.

As far as your decision to have biological children with a known higher risk of diabetes, I think that was an understandable decision given our understanding of diabetes genetics, treatment, and progression. While diabetes has a genetic component, it is not clear that the genetics is simple and genes are not perfectly predictive of whether or not one will get the disease - there are identical twins (same genes!) where one gets diabetes and the other does not. Also diabetes is a serious disease with lifelong consequences, but still not as bad as many other diseases out there. Would you have made the same choice if, say, you and your husband were carriers for TaySachs and any child you produced together had a 25% chance of dying a horrible death in early childhood? Maybe you would have, but it certainly gives most people pause to consider it.

In case of the OP, the genetics is simple and known, and the odds of passing on the PDK disease are quite high (50%), and the disease sounds bad but not quite as bad as some others (Huntingtons, Tay-Sachs, Cystic Fibrosis). Its a tough situation.

 

[FrekeChild]

One of the main reasons we decided to not have bio kids is that FI has a family history of heart disease, heart defects, diabetes and cancer. He had open heart surgery just under 3 years ago, which he will have to undergo again in around 10 years from now, and probably 10-15 years again after that, and again for the rest of his life. Needless to say, this is not something he wants to pass on. So if we decide to have kids, they will be adopted.

Have you considered adoption?

 

[neatfreak]

Date: 4/26/2009 6:31:24 PM
Author: cara

Date: 4/26/2009 4:36:05 PM

Author: MCI don't understand the adoption alternative because by adopting a baby, there is still a chance that he/she will have some sort of genetic disease that will be discovered at some point.


I'm not sure what I would do with PKD because aside from your post here, I know absolutely nothing about it. While pregnant with my first son, I developed Gestational Diabetes and discovered that diabetes runs in my family and that my children would be at risk. I still decided to have a second child so yes, I did have a child knowing of risk. Both of my kids are fit and active, so hopefully they never become sick with it.

Its a matter of the level of risk (say 5% versus 50%) and a matter of choosing to bring into the world a child with a known, high risk of having a certain disease. For couples with very bad odds on the genetics of their biological children, it might be that an adopted child of unknown genetics is at much lower risk of having *any* serious genetic disease than a biological child of the couple. But secondly, someone else made the decision to bring the adopted child into the world. That child exists already, so whether or not it has an unfortunate genetic disease is already determined and not the result of any action taken by the potential adoptive parents. If those parents were to have a biological child knowing that their genes are likely to cause the child to have a horrible disease, I think that is a qualitatively different decision than adopting a child, even if the child ends up having a horrible genetic disease.


As far as your decision to have biological children with a known higher risk of diabetes, I think that was an understandable decision given our understanding of diabetes genetics, treatment, and progression. While diabetes has a genetic component, it is not clear that the genetics is simple and genes are not perfectly predictive of whether or not one will get the disease - there are identical twins (same genes!) where one gets diabetes and the other does not. Also diabetes is a serious disease with lifelong consequences, but still not as bad as many other diseases out there. Would you have made the same choice if, say, you and your husband were carriers for TaySachs and any child you produced together had a 25% chance of dying a horrible death in early childhood? Maybe you would have, but it certainly gives most people pause to consider it.


In case of the OP, the genetics is simple and known, and the odds of passing on the PDK disease are quite high (50%), and the disease sounds bad but not quite as bad as some others (Huntingtons, Tay-Sachs, Cystic Fibrosis). Its a tough situation.

Exactly Cara. A child you adopt is ALREADY born. They are in this world and they need love and support. IF they happen to develop a genetic disease down the line then they do. But it's very different IMO than knowingly birthing a baby that has a 50% chance of having a potentially fatal genetic disorder. Very different.

 

[tiffanytwisted]

I don''t know if I would take the chance.
I would consult a genetics counselor. I would also consider a sperm donor, you commented about missing out on pregnancy, a sperm donor would allow you to do that.
What does your fiance think about future children?

 

[basil]

I don''t think that it''s a decision you should make based on a message board. You and your fiance have a much better understanding of what it''s like to live with the disease, and are thus better equipped to judge what quality of life an affected child would have.

It is impossible to know what the treatments would be in 40-50 years...by then gene therapy may be well established and today''s treatment of dialysis and transplant will be a thing of the past. But you never know.

I think you and your fiance should have a long conversation with a genetic counselor, who are really the experts in these types of discussions. They should be available at major medical centers. Even if you don''t plan on having kids for another few years, it''s not unreasonable to have this type of meeting now. It''s something that you need to know for your future.

Good luck!