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kjersta81
01-24-2012, 12:50 AM
For those of you that are going to have or have had more children after having a child with a airway issue or genetic defect, syndrome etc...

Are there tests my husband and I can take to ensure we are not carriers of something that could be passed down to another child. I'm assuming there is no blanket blood test that would test to see if we are carriers of genetic abnormalities etc...can you just get tested for more common ones? I'm sure they would be a million things to test for so probably can't test for everything.

Also with hunter having subglottic stenosis and webbing, and the fact that there is none heart conditions in the family they tested for 22q11 deletion, thankfully that came back negative. The doctor didn't think hunter had it but just wanted to rule it out. Seems as though he was just "one in a million" that he had this airway issue..

principe
01-24-2012, 02:36 AM
Aldo was tested for the 22q11 deletion & was also negative. I have done lots of online research on this subject, not sure if you remember, Aldo was borned with webbing & subglottic stenosis also, & the reason for this condition is unknown. Read it has nothing to do with genetics. Many babies borned with webbing have 22q11 deletion (but they also have other abnormalities or merical issues) but many others do not. Aldo does not have other medical issues & I see Hunter besides airway issues has no other medical issues either. Again, according to medicine the cause for this airway issue is unknown & has nothing to do with genetics but if you & your partner end up doing testing & find something let me know. I'm very interested also.

Sweet Harrison's mommy
01-24-2012, 07:07 AM
Oh goodness, I am right with you in your thinking on this topic. Sorry in advance if this is a long response!

Harrison is 14 months and after having every genetic test/muscle biopsy/chromosome testing thrown our way, everything came back normal and we are left with unanswered questions. I will share with you what a recent doctor we saw shared with us.

We have the same questions of "could we pass this on to our child again" (Harrison's defect was a CDH-congential diaphragmatic hernia. he has additional airway issues that were acquired from multiple intubations and long term ventilation). Basically, this doctor told us that everything is genetic. We simply don't have the genetic testing yet to really determine what the chances are of passing on certain congenital abnormalities because the field of genetics is such a "new" field. You can pass on bad teeth, poor eye-sight, or flat feet, just as you can pass on other genetic issues. I had bad scoliosis as a child that had to be surgically corrected, and the doctors always said that although they cannot prove a genetic link, they assume that it is genetically inherited. So some random distant relative probably had mild scoliosis that went undetected and then skipped multiple generations only to manifest itself much more severely in me...if that makes sense.

If a muscle biopsy comes back showing an abnormality of the muscle with no known diagnosis or name of the condition, geneticists "usually" give a 1 in 4 chance of passing it on again. For other abnormalities that aren't muscle related, the risks are usually not that high. This doc threw out a 1 in 100 chance to my husband and me of passing on CDH again. Again, this is not proven and there is no known genetic link to CDH specifically, but this doc who sees tons of CDH babies from around the country believes that it is genetic. He specializes in CDH and although most families go on to have additional healthy children, he has seem some families who have multiple CDHers. He even had 1 mom who had 2 CDH babies from 2 different fathers, so it was clear that she is the carrier of CDH, yet there is still no way to prove it.

I say all of this basically to add to the point that most likely, if a child is born with some type of congenital abnormality, there is probably a chance of passing it on again, but we just don't yet have the tests to know what the likelihood would be. So...the chances could be 1 in 100, 1 in 1000, 1 in 4, or who knows what else, but from what I have read and heard, it does seem that there is SOME risk of passing on abnormalities to additional children.

After being told by almost every doctor "you most likely didn't pass this on to Harrison", and "continue on with future pregnancies as planned", it was in a strange way reassuring to know that yes, we would be taking a risk to a certain degree if we decided to have additional biological children. The odds are in our favor that things would turn out fine, but the chance is there. I like to know what I am dealing with and although this isn't what I wanted to hear, it has helped our family in our planning for the future.

I hope I am not coming across as a "downer" bc the odds are most likely that you would have additional healthy children...I just think it's important to know as much of what you're dealing with as possible.

Kate
01-24-2012, 08:11 AM
I'd meet with a genetic counselor. When Mitchell was born-we met with one right away. He has trisomy 13...a syndrome, kind of like Downs Syndrom (Trisomy 21) but quite a bit more severe as far as typical abnomalties and survival. The genetisist went over our chances of us having another child w/the same issues. For us, Mitchell's condition was a fluke and because he is mosaic (meaning not all his cells carry the extra chromosomes) there is no chance that we passed it on. SO-we did not have to do further testing. That said-if he was not mosaic or if he was partial-then we may have had to do further testing. I don't have names of tests but I think a genetic counselor could really help ease your mind or at least give you some solid answers as far as you and your husband's DNA and genetic history.

We went on to have Sam and I am due with our 3rd any day. I wish I could tell you the worry of having another medical needy child goes away. It doesn't. I think I could have a million kids and I'd still "worry" with each one. I think once you've been down that road-you are realistic and know what can happen. Typical parents many times don't even think that something would or could be "wrong"...though they say they want a healthy baby...I think it's often times expected that they will.

Sam was born and they thought he might have spina bifita. How's that for a 2nd? My husband and I swore we'd never have another..and to be honest had he had it-we probably wouldn't have-but he ended up being fine and healthy. #3...we'll see. I pray every night that this baby will come out healthy and typical. I've learned that this is for me just a leap of faith.

Once you get pregnant-there are many tests you can do-a general test right at the beginning-early on so you "could" terminate if that is what you'd want to do...ultra sounds...my dr was and has been great about doing everything and anything I want. I did 2 ultrasounds with Sam-just to make me feel good, we didn't do any genetic testing though or any prenatal testing-by choice. This one we have not as well. I figure I'm getting who I get and had I known of Mitchell's issues before birth-my pregnancy would've sucked so I just try to enjoy being pregnant and take who I get when they come out. I myself find that I"m a "stick my head in the sand" type of person though-I don't look ahead I live typically in today. I don't want to think about the possible issues until I know what I'm dealing with-or if I even have to deal with it.

Everyone is different. Having another baby is a hard decision and we/I did a lot of soul searching before deciding on #2. #3...we thought hard too, but for me it was more of a body instinct deal-I just didn't feel "done". I now-even though it isn't born yet-feel done and complete...never had that feeling after Sam was born or Mitchell-and I'm excited to be done.

Good luck. I'd talk to your ped or your OB dr about getting a genetic consult. I also did a pre-conception appointment with my OB before getting pregnant the 2nd time. In this appointment we talked about risks and how we were going to handle this pregnancy-talked about possible testing...it helped just get my mind prepared. Hugs...it isn't easy. :hug:

LKN
01-24-2012, 09:04 AM
Ditto a lot of what others have said. We did quite a bit of genetic testing in the year after our son was born. As someone else mentioned, birth defects are genetic, but there are just not enough tests to pinpoint every abnormality or assign a syndrome or disease to it.

We met with a geneticist/high risk obgyn who told us that even though testing was all negative, there was still at the minimum a 1 in 4 chance that we would have a child with some sort of midline birth defect.

Those odds were too high for us. Our son has done very well, but the reality is that a subsequent child might have had a more complex defect or cluster of defects. And maybe not have had the same outcome as our son.

I will tell you that it has been heartbreaking for us. We are both from bigger families and I always wanted 4 kids. Adoption is still out there for us, and I would absolutely do it today, but my husband is not as comfortable with that option.

These kinds of decisions are not easy and it does seem so unfair, but we have found that our life with our beautiful son is just about as perfect a life as we could've imagined. It is a different life to be sure, but I am grateful that we have been given the opportunity to invest our love and lives into the raising of our son.

In many ways, I appreciate our parenting experience more than my friends with multiple kids. Because we only had/have one, we have been able to invest considerable time and energy and effort maximizing the medical outcome.

I've blathered on too much, but I wanted to give you another perspective. Please feel free to PM me. I am happy to chat and share more of our story and reasoning. Good luck with your decision. There is so much to process...

kjersta81
01-29-2012, 05:16 PM
Thank you for all your input..I think our plan is to talk to a genetic counselor and go from there..There is a lot to consider, I just wish I had all the answers!!

Also, it's so nice to talk to others the "get it"...I have several wonderful mommy friends who, although are great and caring, they really don't get what we moms go through everyday.

suzanne2545
01-30-2012, 09:56 PM
There are lots of threads on this subject on here and on the off topic forums. Lots of good food for thought and people who have shaken out on both sides of the issue (as you can see already with the previous posts).

You will get support here no matter the decision you come to. There are no right or wrong answers.

I can tell you for us, Parker was our third child. Although there was not a high possibility that we would have wanted to have any more, it quickly became clear to us that there was a genetic "pre-disposition" towards his particular issue and that we didn't want to go through it again if we had the choice.

For us though, part of that was the affect it would/could have on the rest of the family. Obviously your life revolves in many ways around this life that for us, adding a fourth child to the mix and maintaining normalcy for the older kids was too overwhelming.

Had Parker been our first baby, it still would have been a consideration but not as big of one because there weren't as many kids up the line whose lives we were meddling with. Does that make sense?

That said. If I magically turned up pregnant today (really hoping not though!! LOL.) we would welcome a new baby with open arms and whatever challenges (or not) might come along with it.

Having seen/read about/talked about the decision making process for so many people on here I'm glad I didn't have to really give it any thought. It has got to be gut wrenching and I don't envy anyone the process.

Hugs.

kadiera
01-30-2012, 10:49 PM
And, for what it's worth....doctors assured us that Alexander's issues weren't genetic per se - luck of the draw with a micropreemie, and so on and so forth (though the pre-eclampsia that caused him to be early is clearly genetic on my part, there's no reason they can find that his lungs should have been as bad as they were), so we were assured that for subsequent pregnancies, the pre-e was the big problem.

....and yet here we are, with baby #2, less premature, not super tiny for her gestational age, who wasn't intubated and did well enough on oxygen to go home....now with a trach. (and Bethany has a host of other quirky things that are identical to Alexander). They even look alike - I have pictures of them at similar ages that even I couldn't tell apart without a time stamp. Clearly, something here is an inherited genetic issue.

I dunno. I mean, it's a challenge, for sure, but it's not anything we don't already know how to manage. We're smarter this time, we ask better questions, we demand better care, all because we know what we eventually figured out that Alexander needed, so we're starting with that list for Bethany.

principe
02-01-2012, 06:58 AM
Janet, you defenitely have a point. Genetic testing can't prove it but the fact that both siblings have similar medical issues warns that this in fact could be genetic.

saywhatyouwill
02-05-2012, 01:26 PM
we have been under genetics since em was a baby. They've tested for everything that they can think of and call us back when new tests are in use. We didn't get any answers. As people have said, if you become pregnant again there are lots of tests that can be done, although that doesn't helpp with the decision of whether to have another. in my second pregnancy we took some tests but declined others...personal choice knowing what your decisions would be.