Genetic condition

allisonmunson94

Hi everyone! So I did a search on genetic conditions on this board and the only thing that I came up with was a discussion about genetic blood tests so I apologize if this is redundant.

My husband has a genetic condition called familial adenomatous polyposis, or F.A.P. for short. there are at least 10 immediate family members of his that have this condition, including both of his brothers, his mother, his uncle, grandmother, aunts, etc, etc. thankfully, his other aunt and her two children did not end up getting it but they are basically the only blood-related family members not affected.

Pulled straight from the web, since I have a hard time explaining it, "familial adenomatous polyposis is the most common adenomatous polyposis syndrome. It is an autosomal dominant inherited disorder characterized by the early onset of hundreds to thousands of adenomatous polyps throughout the colon"

all of the affected family members have had polyps in their colons, DH himself had tens of thousands before his surgery, his brothers each had a few thousand and I'm not sure about the other family members. All of the family members affected have had to have their colons completely removed, had to have the colostomy bag for a few months while things healed, and then had the reversal surgery so now they won't get colon cancer because of this. If they hadn't gotten the surgeries, they would have had a 100% chance of developing colon cancer by the age of 40. They still have to get checked every year for additional polyps in their small intestines, but if any do appear, it's only one or a few at a time which are easily removed.

Sorry for the long post, but does anybody else have experience with either this condition, or another genetic condition that their LO will most likely inherit?

kbrands7

I don't have experience with this particular condition, but I have thalessemia minor anemia which is an inherited blood disorder and have been concerned about passing it on. It's luckily fairly easily treated, but leaves a few minor hampers on daily life, needs to be monitored, and could be catastrophic if my sons inherit it and marry/reproduce with some else who also has it (the resulting major form in a child could be fatal for the child). At the initial pediatric visit, they'll generally collect a family history and be on the lookout for symptoms of genetic disorders. In my case, they were able to reliably test DS's blood for my anemia trait around 1 yr. He was negative for the trait. They'll follow the same protocol for this baby. 

Have you sought either genetic counseling, or spoken with a pediatrician about how you can determine whether or not your child has inherited this condition? I'd start there if not. GL! I know it can be hard thinking about the possibility that your child may be pained or inconvenienced by things coming from either you or your husband. 

allisonmunson94

Thank you for your response! I actually hadn't thought about the genetic counselor. According to my MIL, this is not a genetic condition that can be tested for until they are much older (teens). It doesn't make sense to me, I thought if you had a genetic condition, you had it regardless and could be tested for it any time after birth. I should probably educate myself more about this whole thing.

JessicaB0627

allisonmunson94 said:

Thank you for your response! I actually hadn't thought about the genetic counselor. According to my MIL, this is not a genetic condition that can be tested for until they are much older (teens). It doesn't make sense to me, I thought if you had a genetic condition, you had it regardless and could be tested for it any time after birth. I should probably educate myself more about this whole thing.

Maybe the signs don't appear until teen years, but genetics are genetics and they don't change. The genes you are born with you are stuck with. I would talk to a genetic counselor if you're able!

helleebellee

I don't have any experience with that specific genetic disorder, but I do have the Factor V Leiden blood clotting disorder. It's directly passed down from parents and my kids have a 50% chance of getting it from me. I didn't find this out until this last September. I'm kind of bummed knowing that all 8 kids could have this. Along with having to be aware of the chance for blood clots, my girls will have to be tested since you can't do birth control with this disorder. They will also have to do blood thinners throughout any pregnancy, if they have it.

I agree with Jessica. You'd think you'd be able to test for it at any point. I didn't get my first blood clot until after my 7th was born. If I hadn't had that clot, I probably wouldn't know about my FVL. But how can I make it through 7 pregnancies with no issues? Which is why I wonder if it's a gradual thing? I'm no geneticist, though. I truly hope the best for your LO.

allisonmunson94

Thank you for taking the time to reply everyone!

lbachran

Alison, you may want to look into the Inherited Cancer Screen by Counsyl. It looks at the APC gene which appears to be responsible for the condition your husband has.

My husband and I used the Counsyl Family Prep Screen shortly after I became pregnant. It was 100 % covered by our insurance, quick, and provided a lot of peace of mind.

ayeshaohara

JessicaB0627 said:

Thank you for your response! I actually hadn't thought about the genetic counselor. According to my MIL, this is not a genetic condition that can be tested for until they are much older (teens). It doesn't make sense to me, I thought if you had a genetic condition, you had it regardless and could be tested for it any time after birth. I should probably educate myself more about this whole thing.

Maybe the signs don't appear until teen years, but genetics are genetics and they don't change. The genes you are born with you are stuck with. I would talk to a genetic counselor if you're able!

I am in no way a genetics expert but the comment about your genes are your genes is only some what true. I have a genetic condition that i acquired, vs inherited. So while your genes are your genes they can mutate over time to change the proteins they produce, in basic terms. So luckily for me while I COULD theoretically pass this on, I likely won't because it's not considered an inherited genetic condition. I was just unlucky enough to develop it over time. Does that make sense? It may be the same with the condition that the OP mentioned. While it IS inherited, the genetic expression of the disease may not show up until later. Genetics is so freaking complicated!!! 

JessicaB0627

ayeshaohara said:

JessicaB0627 said:

Thank you for your response! I actually hadn't thought about the genetic counselor. According to my MIL, this is not a genetic condition that can be tested for until they are much older (teens). It doesn't make sense to me, I thought if you had a genetic condition, you had it regardless and could be tested for it any time after birth. I should probably educate myself more about this whole thing.

Maybe the signs don't appear until teen years, but genetics are genetics and they don't change. The genes you are born with you are stuck with. I would talk to a genetic counselor if you're able!

I am in no way a genetics expert but the comment about your genes are your genes is only some what true. I have a genetic condition that i acquired, vs inherited. So while your genes are your genes they can mutate over time to change the proteins they produce, in basic terms. So luckily for me while I COULD theoretically pass this on, I likely won't because it's not considered an inherited genetic condition. I was just unlucky enough to develop it over time. Does that make sense? It may be the same with the condition that the OP mentioned. While it IS inherited, the genetic expression of the disease may not show up until later. Genetics is so freaking complicated!!! 

Genes can mutate, that's how people get cancer, but when you have a mutation in one cell you will not magically have that mutation in every other cell in your body. Every daughter cell of that cell will likely have the same mutation. So yes you're right that genes can mutate and gene expression can change in some cells, that does not change your overall genetics. In this case it does seem to be a true genetic condition because of the amount of people in her DH's family affected by it. 

JessicaB0627

ayeshaohara said:

JessicaB0627 said:

Thank you for your response! I actually hadn't thought about the genetic counselor. According to my MIL, this is not a genetic condition that can be tested for until they are much older (teens). It doesn't make sense to me, I thought if you had a genetic condition, you had it regardless and could be tested for it any time after birth. I should probably educate myself more about this whole thing.

Maybe the signs don't appear until teen years, but genetics are genetics and they don't change. The genes you are born with you are stuck with. I would talk to a genetic counselor if you're able!

I am in no way a genetics expert but the comment about your genes are your genes is only some what true. I have a genetic condition that i acquired, vs inherited. So while your genes are your genes they can mutate over time to change the proteins they produce, in basic terms. So luckily for me while I COULD theoretically pass this on, I likely won't because it's not considered an inherited genetic condition. I was just unlucky enough to develop it over time. Does that make sense? It may be the same with the condition that the OP mentioned. While it IS inherited, the genetic expression of the disease may not show up until later. Genetics is so freaking complicated!!! 

I did look up some information on FAP, though. From what I found it is a dominant genetic condition, therefore, your husband has a 50% chance of passing the gene on to your LO. There is a blood test that can be done to look for the mutation in the gene that causes this. I also found that most doctors won't diagnose it until they find more than 100 polyps, which generally don't show up until teen years, so maybe that's what your MIL was talking about? So I'm sure you could request to speak to a genetic counselor after LO is born and see if they will run that blood test for you! 

ayeshaohara

@JessicaB0627 thank you, I think you explained that better than I did. One of those things you know but find hard to explain to others!! 

allisonmunson94

JessicaB0627 said:

ayeshaohara said:

JessicaB0627 said:

Thank you for your response! I actually hadn't thought about the genetic counselor. According to my MIL, this is not a genetic condition that can be tested for until they are much older (teens). It doesn't make sense to me, I thought if you had a genetic condition, you had it regardless and could be tested for it any time after birth. I should probably educate myself more about this whole thing.

Maybe the signs don't appear until teen years, but genetics are genetics and they don't change. The genes you are born with you are stuck with. I would talk to a genetic counselor if you're able!

I am in no way a genetics expert but the comment about your genes are your genes is only some what true. I have a genetic condition that i acquired, vs inherited. So while your genes are your genes they can mutate over time to change the proteins they produce, in basic terms. So luckily for me while I COULD theoretically pass this on, I likely won't because it's not considered an inherited genetic condition. I was just unlucky enough to develop it over time. Does that make sense? It may be the same with the condition that the OP mentioned. While it IS inherited, the genetic expression of the disease may not show up until later. Genetics is so freaking complicated!!! 

I did look up some information on FAP, though. From what I found it is a dominant genetic condition, therefore, your husband has a 50% chance of passing the gene on to your LO. There is a blood test that can be done to look for the mutation in the gene that causes this. I also found that most doctors won't diagnose it until they find more than 100 polyps, which generally don't show up until teen years, so maybe that's what your MIL was talking about? So I'm sure you could request to speak to a genetic counselor after LO is born and see if they will run that blood test for you! 

Yes exactly!! The polyps don't typically appear until teen years. DH did have several other indicators as a child though, like an extra bone growth on his jaw and cysts on his scalp that he had to get removed I guess it all comes hand in hand with FAP. Definitely exploring the option of speaking with a genetic counselor when LO is here. Thanks again everyone!