Genetics consultation question — The Bump
Special Needs

Genetics consultation question

djtippietoesdjtippietoes member
2500 Comments Fifth Anniversary 500 Love Its First Answer
edited January 2015 in Special Needs
Hi Everyone,
I hope it's okay that I post here as I don't know if my son is SN or not.  Here's some background:  I had a lot of issues while pregnant.  The most pressing ones were a very high chance of Down Syndrome (1/28) because of a high level of free-beta HCG at my quad test.  I ended up having an amnio and DS was ruled out.  Then LO became IUGR.  He was born at 37 weeks at 4lbs, 15 oz.  He did not need NICU time.

He always had some issues gaining weight and he had a few curious features - primarily syndactyly of the second and third toes and just a general different look than other babies.  At 4 months, our pedi suggested we get a microarray and have a genetic consultation.  The microarray came back normal.  When we went to the geneticist, he took a look at him and basically told us that nothing jumped out to him and that he didn't even know what he'd test him for.

So, now LO is almost 12 months and even though we got the "all clear" from the doctors, I cannot get it out of the back of my mind that there is something wrong and it hasn't presented itself yet.  (I have anxiety issues, so my intuition is not exactly trustworthy.)  But I scrutinize all of his milestones.  He's meeting them in a normal time period, but on the late side of normal.

So I guess my question for you ladies is how much stock can I put in my geneticist appointment?  Have any of you gone through this and they thought things were fine and it turned out that there was some sort of genetic issue?

I normally post on my BMB but not a lot of people there have gone through something like this.

Re: Genetics consultation question

  • djtippietoesdjtippietoes member
    2500 Comments Fifth Anniversary 500 Love Its First Answer
    edited January 2015
    @-auntie- thanks for responding.  And you're right, we didn't get an all-clear, we got an, "I don't really see anything jumping out at me" which DH tends to interpret as an all-clear.

    As far as his facial features, I'm attaching pictures.  One is at 1 week old and you can see that he doesn't have the normal chubby baby look (but maybe that's because of the IUGR) and one that was taken a couple of weeks ago.  


    image


    image
  • @mcrib Oh believe me, I've googled the hell out of everything.  And it all says it could be something...or it could be nothing.  I guess what I'm really asking is if it's necessary, or healthy, for me to keep going down the rabbit hole of, "maybe something is wrong" when we've met with people who have told us that they didn't really see any striking indication that there was.
  • Some geneticists are better with metabolic syndromes and others are more "anomaly" oriented. Whether or not DS has what would be called "dysmorphic facial features," if there are no physical or developmental issues (heart murmur, kidney issues, hypothyroidism), many geneticists would be reluctant to suggest whole exome sequencing, which is far more revealing that a microarray.
    McRib
Sign In or Register to comment.
Choose Another Board
Search Boards