Genetic Testing — The Bump
Special Needs

Genetic Testing

Hi, I am new here (my first bump post) and recently scheduled a genetic testing appointment with my husband. I am terrified and would like to hear about what I can expect. I am ready to start TTC, but am considered high-risk for children with special needs. I had 2 brothers who were both born with extremely severe genetic defects that have now passed away. Neither of them ever functioned above the level of a 6-month old baby, and the doctors were never able to diagnose the problem.

I really don't want to offend anyone here, but the truth is that I am just so scared about having children (especially boys) with the same problems as my brothers. I saw the pain it caused my family, the anger that I had growing up as a sibling of 2 special needs children, the jealousy I had towards my friends who had close relationships with their brothers, etc. and I just don't know if I am strong enough to handle all of those same emotions as a parent.

Has anyone here gone through similar testing after having a special needs child? Did you have similar fears, and if so, how did you settle them?

 I am very sorry if I am on the wrong board, I don't know where to look for someone who may have been through something similar. Thanks.

Re: Genetic Testing

  • My son is physically and mentally delayed.  We had been through the gamut of testing and we were waiting 6 months for a genetic panel to come in.  I really thought nothing of it would come.

    When we were 3.5 months into our wait I found out I was pregnant.  The next day we received DS's diagnosis, which could be hereditary.

    I'm now 8 weeks pregnant and STILL waiting to find out if I'm a carrier of DS's genetic mutation.  If so, this baby has a 50/50 chance with a girl having a higher chance of just being a carrier.

    Everyone has similar fears.  Did you make the appointment with a genetics counselor or with your OB?  I wouldn't even bother with the OB for this. 

    How to we quelch the fears?  By living life.  My son may have special needs but he his an amazing little boy and I love him, maybe even more than if he was typical because of the odds he overcomes every day.  Because of how hard he works, how determined he is (although some may just say he is stubborn).  A good support group is key.  For us it's our church and casting our fears on God.  I know not everyone is of the religious type so I just recommend finding someone you can talk to and receive support from.  Maybe you should talk to your mom, she obviously understands the fear you have. 

    If it does come back that I am a carrier of DS's genetic condition, I will not be having any more children.  Personally, I don't think I have the strength to do this everytime with a 50/50 gamble so we understand your fears.  I dont' think there is anyone on the board that would judge you for that.  There are lots of people here who are choosing to not have anymore children after their child has special needs. 

    I hope you get the answers you need from your appointment.

    Oh, I forgot to answer what to expect from your appointment.  They'll do a full pedigree (kind of like a medical family tree) of you and your husband.  If you have any reports from your brothers that could be extremely helpful to them.  They'll discuss with you what they think could have been going on (most likely they'll consider it X-linked since 2 males were affected and 2 females unaffected).  They may offer to draw blood.

    First, call your insurance to make sure they cover the appointment.  If not, discuss with genetics about self pay.  For us, a lot of insurance doesn't cover the counseling portion, they cover the dr's visit though.  So they offered us a 35% discount if we self paid and I believe it was about $140/hour for the counseling (which is about how long ours took).

    Be prepared for expensive blood tests.  DS had an X-linked intellectual disability test where they break down the x-chromosome into all 92 genes they know.  It was $5500.

    If you have any other questions please feel free to ask them here, we're a pretty easy going board and these ladies really are such great support. 

    To my boys:  I will love you for you Not for what you have done or what you will become I will love you for you I will give you the love The love that you never knew
  • Hi,

    My son has some kind of chromosomal abberation that all the genetic testing available to date has failed to identify.  I even had a CVS while pregnant and those results were normal.  DH and I also had pre-natal genetic testing, which was all clear.

    When it comes to genetic testing, statistics don't matter to the individual.  There may be a 1 in 1,000,000 chance of having a child with an issue, but who cares if it happens to your child?  So, my feeling is if a person really cannot handle or accept the idea of having a child who has some special needs, that person may want to explore adoption.

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  • image thefuturemrskudla:

    When it comes to genetic testing, statistics don't matter to the individual.  There may be a 1 in 1,000,000 chance of having a child with an issue, but who cares if it happens to your child?  So, my feeling is if a person really cannot handle or accept the idea of having a child who has some special needs, that person may want to explore adoption.

    DH and I were both tested after we discovered LA's unbalanced translocation and our tests came out "normal."  We have no more of a chance of having another child with LA's same condition than any other couple.  LA's genetic quirk is soooo tiny that it would not have shown up in any prenatal testing either (not that it would have changed the course we chose). 

    My point, while you may/may not be statistically more/less likely to have a child with a genetic issue, you are not guaranteed anything in life.  Even a genetically "normal" child can have special needs.  If you feel so strongly that you cannot handle a SN child, then perhaps explore other options--including not having children.  I don't say that to sound harsh, but many SN are not discovered until children start falling behind developmentally or begin to exhibit signs that something is different.  No parent plans to have a SN child, but it is a possibility. 

  • Thank you for the words of wisdom....and for not jumping down my throat for admitting that I am scared/nervous about the possibility of having children like my brothers. I guess I should have also clarified that it is not that I am concerned about having any SN in a child, really just the extent to which I saw in my brothers growing up. They were both so severely affected that they had to live in a medical assistance facility permanently and could not even live at home with my family due to their CP and the multiple grand mal seizures they would have daily. They were in horrible pain all the time, had no communication skills, could not recoginze (as far as we know) any family, and had to be fed via feeding tube. It was very hard as a sibling to see people in such pain, and I can't even imagine what that would be like as a parent.

    I do want to have children, and am seeing the gentic counselor so that I know what I am facing, and then will need to make decisions as far as the route I take to become a parent. I really appreciate the insurance advice, I would not have dreamed the cost would be so high, and just assumed my insurance would cover a large portion of it.

    One last question regarding timing - how long do the results on these types of tests normall take to come in?

     Thanks again...

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