IVF with PGD - worth considering or not?

[caribou]

I wasn't sure if there was an existing thread suitable for my ramblings, so I thought I would rather start a new one.

I've been thinking about the possibility of having IVF treatments with preimplantation genetic diagnosis so that I wouldn't have to worry about my future children having this condition and their lives and self esteem possibly being affected. But then, I talked to my sister about it and she said I was nuts. According to her, lipomatosis is a very minor concern in a person's life and I am overreacting. She apparently has never noticed our middle-aged father's lipomas, despite the fact that he has very many of them (I obviously have since I'm neurotic and afraid that I will get as many). Maybe it's not as noticeable to others as we (or I) think?

I've also looked into in vitro fertilization and it's not as easy as it may sound. No one knows about the long-term effects of IVF since it's such a new method - the first person born with IVF is currently only 33 years old. Most people seem quite healthy and normal, but we really don't know about the long-term effects yet. And IVF has been linked to a slightly increased risk to some cancers. There might be other effects that we haven't discovered (actually, I believe it's more than likely that there are other effects, even if minor).

So the question is - is it ethically justified to have this treatment for lipomatosis? Lipomatosis is not a life-threatening condition after all, it is mostly merely cosmetic. It could be easily argued that one can live a full happy life with lipomatosis. Also, in most cases lipomatosis is fairly mild (or so I would assume, though it's hard to estimate since the medical community doesn't pay much attention to its severity and the stories you read online seem more extreme).

So I don't know. If I had something more severe in my family, like NF-1, I would either have IVF with PGD or have fetal genetic testing very early on in the pregnancy and terminate it if necessary (which would circumvent the possible health issues with IVF treatments, though it's more morally questionable). But I don't know if it is justified with lipomatosis. I know I couldn't have an abortion just because the child had the lipomatosis gene. These are such hard questions.

Anyway, if anyone else has an opinion or thoughts, please share. If I need to ramble more about this in the future, I'll do it here.

[Guest]

Caribou: I was waiting for others to first reply so that I would not dominate this discussion. But since it has been a few days with no replies, here are some of my thoughts.

If I was in your shoes and had your questions, the first thing I would do is get some genetic testing on myself. Do you have a garden variety t(3;12)(q27-28;q14-15) mutation? Or something slightly worse (like 1p or 6p involvement)?

(An Aside: IVF/PGT won't help dercums or MSL sufferers. If IVF/PGT would help Dercums or MSL, then the procedure would definitely be worthwhile for those patients. But that is not an option for them.)

Your question is a somewhat personal one, so I'll answer in personal terms: I would definitely not terminate a pregnancy due to common lipomatosis (whereas I would for ether cystic fibrosis or downs). For common lipomatosis, I would not undergo IVF/PGT, unless I had an extreme case. The outcomes for common lipomatosis sufferers are good. The whole fear of self-esteem issues is overcome at a relatively young age. Little impact on quality of life, no impact on longevity.

However, I doubt that IVF carries the same risks as genetic manipulation. The consensus is that IVF is low risk. As a side benefit you could screen for other diseases at the same time.

[loveshislumps]

My partner has lipoma and I've been pondering this recently too.

My partner's lipoma make him unhappy. As a parent I'd like to protect my children from any source of unhappiness that I can, but so many things can make someone unhappy and I could rid them of all of them.

Maybe it's glasses, hair colour, skin colour - bullies will always find a way, all I can do is resource my kid so they're confident and able to brush bullies off.

I also don't want to give in to society's pressure for us all to look the same. I don't want to 'breed out' natural variation. Who says lipoma are a defect? Maybe it's your body processing chemicals in a certain way to protect you from another illness? Maybe they have another purpose we haven't discovered yet?

If we did it, then IVF would cost us a fortune and we'd start parenthood in debt. That money we could pay our child through university/college, help with a mortgage, so many other things that could really add value to our child's life.

I wasn't sure when I started replying, but so far I think I'm coming out as a 'no I wouldn't have PGD', but then I'm someone who doesn't live with her own lipoma and isn't upset by them on someone else.

Thought-provoking question, thanks!

[caribou]

Thanks for the reply. I don't know if I will have access to genetic testing any time soon. I assume it wouldn't be covered by public healthcare since lipomatosis isn't anything severe, so I might need to be richer first. But we've had a lecture about genetic defects and I could probably email the lecturer about and ask about the possibility of having it done and the price range, she at least hould know where I could get this kind of a test done in this city. I don't have a clue based on my family history what we could have. I wonder if the manifestations differ greatly? Would the more severe cases usually have 1p or 6p involvement? Hmm.

Do you count pre-implantational genetic testing as genetic manipulation? I wasn't sure if you did or if you meant more hardcore genetic manipulation. It hadn't occurred to me that it could pose an additional health risk for the fetus, but it would make sense that taking one cell away (for testing) from an embryo of only a few cells might be risky and increase the risk for some illnesses.

I wouldn't abort a fetus with lipomatosis, I don't see it as justified. If I had a more severe genetic disease and I wanted a child that was as healthy as possible, I might consider normal pregnancy + fetal testing + abortion if necessary and repeating that until I got a healthy fetus, but with something as mild as lipomatosis I simply could not consider it.

I've thought about IVF/PGT for some time now, and right now I don't think it's necessary. But I will reconsider if I seem to have a severe case by the time I want children. When my father was my age, he already had had several visible lipomas for a couple of years and so far I have none, so maybe that is a sign I wouldn't have a very severe case, at least. I don't know. To be fair, I wouldn't be concerned at all if I hadn't read several terrible stories of people with severe lipomatosis who felt despaired by it. And I think my father does have a severe case, although it's hard to say since I haven't asked him too many details. He's not completely covered in tumors, but he does have a fair few big ones in several places, I don't know how many small ones he has. Either way, he doesn't seem too affected by it, and I hope I could be less self-conscious and manage it as well as he when I reach that age. Genetic testing could be interesting, although knowing you have a more severe lipomatosis mutation and not just the garden-variety could make me at least more scared.

Anyway, I'd like to be optimistic and trust that if I have children who inherit this, by the time they are affected by it, there will be a good enough method to remove lipomas with a reasonable cosmetic result. And as for myself, I can probably learn to live with it since it shouldn't get too bad until I'm in my 40s or 50s or so, judging by my father.

As an aside, I just read my lecture slides about genetic defects, and apparently there is a high risk for people with translocational mutations to have disabled children (along with fertility issues and miscarriages). I assume this would happen if a child inherited a non-balanced translocation and also, I would think this is not a risk with FML or else we would've noticed by now? (Maybe because non-balanced mutations are not viable with FML?).

[guest]

My partner has lipoma and I've been pondering this recently too.

My partner's lipoma make him unhappy. As a parent I'd like to protect my children from any source of unhappiness that I can, but so many things can make someone unhappy and I could rid them of all of them.

Maybe it's glasses, hair colour, skin colour - bullies will always find a way, all I can do is resource my kid so they're confident and able to brush bullies off.

I also don't want to give in to society's pressure for us all to look the same. I don't want to 'breed out' natural variation. Who says lipoma are a defect? Maybe it's your body processing chemicals in a certain way to protect you from another illness? Maybe they have another purpose we haven't discovered yet?

If we did it, then IVF would cost us a fortune and we'd start parenthood in debt. That money we could pay our child through university/college, help with a mortgage, so many other things that could really add value to our child's life.

I wasn't sure when I started replying, but so far I think I'm coming out as a 'no I wouldn't have PGD', but then I'm someone who doesn't live with her own lipoma and isn't upset by them on someone else.

Thought-provoking question, thanks!

Lipomas don't confer any advantage. They are not processing chemicals. Yes, lipoma is a defect with no known benefits. I don't know where you live, but in the U.S. IVF doesn't cost a fortune.

[guest]

Thanks for the reply. I don't know if I will have access to genetic testing any time soon. I assume it wouldn't be covered by public healthcare since lipomatosis isn't anything severe, so I might need to be richer first. But we've had a lecture about genetic defects and I could probably email the lecturer about and ask about the possibility of having it done and the price range, she at least hould know where I could get this kind of a test done in this city. I don't have a clue based on my family history what we could have. I wonder if the manifestations differ greatly? Would the more severe cases usually have 1p or 6p involvement? Hmm.

Do you count pre-implantational genetic testing as genetic manipulation? I wasn't sure if you did or if you meant more hardcore genetic manipulation. It hadn't occurred to me that it could pose an additional health risk for the fetus, but it would make sense that taking one cell away (for testing) from an embryo of only a few cells might be risky and increase the risk for some illnesses.

I wouldn't abort a fetus with lipomatosis, I don't see it as justified. If I had a more severe genetic disease and I wanted a child that was as healthy as possible, I might consider normal pregnancy + fetal testing + abortion if necessary and repeating that until I got a healthy fetus, but with something as mild as lipomatosis I simply could not consider it.

I've thought about IVF/PGT for some time now, and right now I don't think it's necessary. But I will reconsider if I seem to have a severe case by the time I want children. When my father was my age, he already had had several visible lipomas for a couple of years and so far I have none, so maybe that is a sign I wouldn't have a very severe case, at least. I don't know. To be fair, I wouldn't be concerned at all if I hadn't read several terrible stories of people with severe lipomatosis who felt despaired by it. And I think my father does have a severe case, although it's hard to say since I haven't asked him too many details. He's not completely covered in tumors, but he does have a fair few big ones in several places, I don't know how many small ones he has. Either way, he doesn't seem too affected by it, and I hope I could be less self-conscious and manage it as well as he when I reach that age. Genetic testing could be interesting, although knowing you have a more severe lipomatosis mutation and not just the garden-variety could make me at least more scared.

Anyway, I'd like to be optimistic and trust that if I have children who inherit this, by the time they are affected by it, there will be a good enough method to remove lipomas with a reasonable cosmetic result. And as for myself, I can probably learn to live with it since it shouldn't get too bad until I'm in my 40s or 50s or so, judging by my father.

As an aside, I just read my lecture slides about genetic defects, and apparently there is a high risk for people with translocational mutations to have disabled children (along with fertility issues and miscarriages). I assume this would happen if a child inherited a non-balanced translocation and also, I would think this is not a risk with FML or else we would've noticed by now? (Maybe because non-balanced mutations are not viable with FML?).

Yes, the more problematic and severe cases do have 1p and 6p involvement. The translocations associated with FML have never been shown to be associated with disabled children.

[Guest]

Caribou: A couple more things:

1. No, I didn't mean to imply that PGD is genetic manipulation. My point was that IVF/PGD is currently viewed as relatively low risk.
2. I am surprised that you would need to ask your lecturer about genetic testing. In the U.S. any local lab can perform that service (at a much lower cost than IVF/PGD). But I have no idea on whether this is far less available outside the U.S.

[caribou]

1. Thanks for the clarification. I'm relieved that it is considered low-risk.
2. I don't know if it is available. At least for NF-1 they have to send the DNA-samples to Alabama or Belgium for testing, although NF-1 might be a more challenging case. I assume most doctors here wouldn't know anything about such tests, at least, even if they are available. But my lecturer should know.


I've thought about it and I would like to have the gene test done. Or alternatively try to find out more about the severity of lipomatosis in my family. So I'll try to look into it, I'd like to know which mutation I have before getting children.

If it looks like I have the more severe form, I would consider IVF with PGT, definitely. I wouldn't want to fear my child getting a severe form of FML at a relatively young age. It's a different thing altogether than having a couple of relatives with a few lipomas in middle age or later, like in my boyfriend's case.

I would still say that lipomatosis even in its more severe forms doesn't usually affect the quality of life too much, unless you let it. Things could be much worse. But I still wouldn't want to make anyone else have it as a result of my choices, especially if I can avoid it with something like PGT.


I've also decided that I'd like to know as much as I can about lipomatosis and hopefully be able to help people like the forumers here some day. I'm just not yet sure what I should specialize in - gene therapy, genetic diseases, plastic surgery, tumors or cancer etc. I also don't know if I should be a researcher or not - I have a feeling this is too big an issue to tackle on my own. And something like lipoma removal with good cosmetic results (i.e. specializing in plastic surgery) or offering IVF with PGT for people with genetic diseases might be more useful.

But now I must leave to the airport for my Easter vacation. I might not be able to come here for a week or so, although I'll try. Happy Easter, folks!