if a genetic disease is likely would you test your children?

[cmarango]

My dh recently had a checkup and I told him to tell the dr. that his mother has PKD (polycistic kidney disease). Well, the dr. orders an ultrasound and it turns out that he has one, rather large cyst in his right kidney. I am trying to get an appointment with a nephrologist, but we need a referral first and blah blah blah. It could be that he doesn't have PKD and that he has a cyst due to something else, but neither one of us really puts much faith in this scenario. We are both people that follow the mentality of expect the worse and be pleasantly surprised if it's not as bad as was anticipated.

 

His mother has been managing her PKD for over 15 years. My dh cannot receive a conclusive diagnosis of PKD until he has more than one cyst (of course). However, we are concerned about our 2 dc. PKD is an autosomal dominant disease so chances are roughly 50-50 that either child has inherited it. Most of the time a person does not begin to develop cysts until they are in their 40s or 50s. From there it is generally many years until dialysis/kidney transplant is needed.

 

So, we need to decide if we should insist on genetic testing to determine if our children are at risk. If they are, do we radically change our diets to follow the renal diet? Do I opt to just have ultrasounds performed every few years to see if they have any cysts? Do I go along thinking that they are perfectly healthy children and wait until something crops up?

 

Thinking out loud here. I really don't know what to do.

[Jennifer in MI]

I'm pretty sure I'd test. If there's anything that can possibly be done in the early years to help, I'd want to be sure I'm doing it!

 

My husband's family has hemachromatosis. My dh is the only one of his siblings who does not have it, but he does carry a recessive gene. I am getting tested to see if I have it. If so (or if I carry the recessive gene), we'll get the kids tested too.

:grouphug::grouphug::grouphug: I hope you get good news about your dh.

[Harriet Vane]

I would test.

 

:grouphug:

[Karen A]

We are in the same situation with a different autosomal dominant disease that my husband, his father, grandmother, etc. all had.

 

We did NOT test dd for it, because for insurance purposes we would like to have as little on her medical record as possible, and there is no benefit to "just knowing". We have been pretty sure that she has it, but since there's nothing to be done about it therapeutically (other than exercises, which we know from dh doing them), there seems to be no reason to get the official diagnosis.

 

Unless it puts undue stress on the person/family, I would eat in the recommended way, take recommended vitamins or whatever unless getting the official diagnosis early makes for some better outcome than you can achieve without the official diagnosis.

[musicmommy]

When our youngest was 2 years old, we found out he was severely anemic. That led us to a month of iron therapy only to find out that nothing changed which then led to a month of trying to figure out what was wrong with our perfectly healthy looking child. Many, many blood tests later and about a month of time, we find out he has Beta Thalassemia Minor. His blood cells are half the size of a regular person's blood cells. At which point, my mil says, "Oh, that's what fil had too." ARGH! So dh has it also. We had the other 2 tested just so that we know.

 

I know that this is different than what you are dealing with, but for us, it was a matter of we would always be wandering if it was there in our other children. It helped to put our minds at ease by knowing they actually don't have it

 

Just FYI, it doesn't affect our little guy in any way other than making him tired a little easier and it takes him longer to fight off illness. Now, when he goes to get married, he'll want to have his fiancee tested and if they both have it, then they'll have to face some difficult decisions about having children.

 

I think it is good to know ahead of time though.

[Crimson Wife]

Your kids are too young to really make an informed decision, so I would personally lean towards just having ultrasounds periodically and cleaning up the diet. You're presumably going to need to do the latter anyways given your DH's condition.

[athena1277]

I'd have to say that I would probably test for that. Dd has celiac disease, which is hereditary. It was part of joining a research study, but we had ds' cordblood tested for it when he was born. Due to that we know that he has one of the 2 genes for it. He may never develop it, but I know to be on the lookout for it so he won't get so sick like dd did before we know what is wrong.

[ThatCyndiGirl]

Absolutely and for exactly the reason you mentioned: so you can follow a certain diet and watch for changes.

 

I got tested for the genetic markers for the disease that my brother died of. We were waiting for what seemed like forever for the autopsy report (which would have told us if it was spontaneous/genetic), so I got the test. That way we knew sooner and we would know if his 2 year old son was at risk.

 

I have no regrets about getting the testing, even though it meant that I may have been hit with horrible rapidly fatal news.

[plansrme]

However if you test and it is positive, there is a better than good chance they will never be eligible for medical insurance again.

 

Not currently true. Google "Genetic Information Nondiscrimination Act," commonly known as "GINA."

 

Terri

[tex-mex]

I'm pretty sure I'd test. If there's anything that can possibly be done in the early years to help, I'd want to be sure I'm doing it!

 

My husband's family has hemachromatosis. My dh is the only one of his siblings who does not have it, but he does carry a recessive gene. I am getting tested to see if I have it. If so (or if I carry the recessive gene), we'll get the kids tested too.

:grouphug::grouphug::grouphug: I hope you get good news about your dh.

:iagree: I would also do the DNA test. I have 2 rare diseases: Hemoglobin C disease and Urea Cycle Disorder (OTC). My son was tested at birth for the HbC trait (he has it) and when he was in a coma, he was dx'ed with the rare liver disease (Urea Cycle Disorder). We now participate in a NIH longitudinal study for the UCD and get excellent care as a result. We both had our DNA tests done. It takes a while, but it is worth it. HTH

[Mejane]

Knowledge is power. I'd test.

[Ravin]

When our youngest was 2 years old, we found out he was severely anemic. That led us to a month of iron therapy only to find out that nothing changed which then led to a month of trying to figure out what was wrong with our perfectly healthy looking child. Many, many blood tests later and about a month of time, we find out he has Beta Thalassemia Minor. His blood cells are half the size of a regular person's blood cells. At which point, my mil says, "Oh, that's what fil had too." ARGH! So dh has it also. We had the other 2 tested just so that we know.

 

I know that this is different than what you are dealing with, but for us, it was a matter of we would always be wandering if it was there in our other children. It helped to put our minds at ease by knowing they actually don't have it

 

Just FYI, it doesn't affect our little guy in any way other than making him tired a little easier and it takes him longer to fight off illness. Now, when he goes to get married, he'll want to have his fiancee tested and if they both have it, then they'll have to face some difficult decisions about having children.

 

I think it is good to know ahead of time though.

 

On the up side of this one, I'm pretty sure it's one of the diseases that makes the carriers resistant to malaria.

 

As for the OP, I think I would want testing, if anything can be done to delay or prevent onset in those who have it. Otherwise, I'd let them wait until adulthood and decide for themselves whether or not they want to know in advance.

[LauraGB]

I think in this case I would try to alter the diet to be in line with the diet you mentioned as much as reasonably possible, but I would wait until they are in their mid teens to test. I think, mentally, for everyone, it would be okay to put it off (considering there needs to be a problem present to diagnose, correct? and that problem doesn't generally occur until adulthood?), but know as a parent that you will have to do this for them one day. Does early knowledge make preventing the onset possible?

 

I will need to have my children tested, too. My sister has tuberous sclerosis. I was tested around 15 years old, but my negative wasn't for certain (I think it had to do with my age and where medical testing was 20 some years ago). When I was pregnant was too late to check in regards to my kids. I haven't checked again for myself, but I have no plans of passing the gene again. But I will have the testing done for my dc when they are about 16 so. If there is something to consider, we can have a few years before they go off into adulthood to work on things.

 

:grouphug:

Edited August 25, 2010 by LauraGB

[Lara in Colo]

I would not because of the insurance thing. This is permanently on their record and laws are ever changing and insurance companies will find a way to exclude any kidney issues. The future is too unknown. Perhaps find a way to test and have it off the record. I would do the regular testing (one a yr or every two yrs) and go from there.

 

Lara

[nmoira]

Each of my girls has a 50% chance of inheriting a blood clotting disorder from me. Both will be tested in their teens and told the results. Girls with the condition should not take the pill, so I think it's need-to-know information.

[melissel]

I'm pretty sure I'd test. If there's anything that can possibly be done in the early years to help, I'd want to be sure I'm doing it!

 

:iagree: