Genetic Results Are In

Junebug060609

Finally, like 4 months later, got results back from some genetic testing they did on D.  Basically they were looking for things with known associations with autism...be it Fragile X or chromosomal issues. 

The good news is that he doesn't have Fragile X.  They did find a chromosomal deletion though.  She said there is a small piece of the small arm of Chromosome 12 that is deleted...and that the specific piece he's missing has a known association with apraxia of speech and some developmental delays.  I knew it!  For like a year now, especially the last 6 months, I've wondered if he maybe had apraxia of speech.  Glad to have a better idea of what is going on.   I'm not clear if this means he'll also have an apraxia dx or not, will straighten that out with the developmental pedi at his appt next month, but it certainly means apraxia is most likely part of the picture and that Mom Gut was right on. 

Anyone else told the same info?  Or have experience with Childhood Apraxia of Speech?  Also, does anyone know if there is a way to know if it was a fluke deletion with him or if it's one his sister is likely to have as well?

ToastieSimons

I can only answer the second part of your question.

You or her would either have to get tested for exact mutation.  It's called a targeted analysis.  It's usually much faster than the original test because they know exactly where to isolate.  And cheaper.  Insurance may not cover it.

Junebug060609

I'm thinking we'll hold off unless there is an indication she may have the same issue (ie if her speech development falls behind).  I definitely don't want to know if I have it unless that knowledge could somehow help our kids.  We don't intend to have any more kids and I really don't want the mom guilt...if that makes sense.

mommyof4boys

Apraxia kids has info on genetics that might be helpfu. Our boys had a FISH to target the area we knew was duplicated. Also, Facebook has a few groups that can be helpful. Unique chromosomes has info and I'd search the exact change to see if there is a group.

CaptainSerious

My son has childhood apraxia of speech. You should know that it's is recommended that kids receive three or more sessions of speech therapy a week when first being treated for apraxia. In time, as they improve, toy can cut back, but the frequency of therapy sessions is key. Also, childhood apraxia of speech is a disability, not a delay, so it will be something that you're son will struggle with throughout his life. While his speech can greatly improve, he will always have times when it makes communicating more difficult than he'd like.

typeset

My kid has a triple copy of 12p13.33.
Mutants unite.

If your son's deletion is de novo, it's highly unlikely his sister has it. If it's inherited, there's a 50% chance she inherited it as well. The only way to know if it's spontaneous or inherited is to test the parents.

algalphys

My DS1 has a childhood apraxia of speech diagnosis...I don't have any genetic testing just he wasn't talking by 2 so slp diagnosed him at about 2.5. We did speech therapy from November 2013 to July 2014. He starts a special needs preK program in a few weeks.

He made exceptional progress in ST. He talks non stop but still has a boatload of articulation errors. He's hard for strangers to understand. We are hoping a lot of progress is made at school but it's essentially a motor planning issue meaning he likely struggle to find words at times and his brain has a hard time getting the message to his mouth and tongue to make the right motions to make the right sounds.

I suspected apraxia too but it took three different slps before someone agreed with me.

Junebug060609

typeset said:

My kid has a triple copy of 12p13.33.
Mutants unite.

If your son's deletion is de novo, it's highly unlikely his sister has it. If it's inherited, there's a 50% chance she inherited it as well. The only way to know if it's spontaneous or inherited is to test the parents.

12p13.33 is my sons deletion. Unite, for sure. Did you do the testing on yourself?

I'm kind of freaked out that dd might have a 50% chance at this same thing. 50%? So if one of us has this, we either passed it on or didn't? That must be the case I suppose. On the one hand it could be reassuring to know it was de novo...but if it's not... Well, I suppose if it isn't that then theyd have reason to check DD.

I'm torn on the parental testing. We likely will do it since it would be useful knowledge for the kids, but I need to get over my fear of the potential mom guilt here.

Forgive the dumb questions, but is it possible DH or I have that deletion but don't show any consequences? (Can we be 'carriers'?) Also, if DD ends up having this same issue... would that answer the genetic questions as well?

Junebug060609

-auntie- said:

Mom-guilt isn't appropriate in this situation, you didn't knowingly do this to your son. Let go of the guilt. It's an unnecessary, counterproductive and somewhat self-indulgent thought process because it gets in the way of being effective as a parent-advocate. 

In these sorts of situations, parents are often tested first to determine if one carries the same deletion. When it's an impacted boy (like in FX), sometimes the mom is assumed to be the carrier and tested; sometimes both parents are (often the case in ASD). If they come back negative, then the mutation is declared "de novo". If one parent is positive, the sibs are generally tested next.

I'd absolutely want to know. It's possible for a person to have a deletion without obvious symptoms. I know of situations where a brother and sister or parent and child share the same deletion and have very different expressions in terms of impairment. In families with ASD, sometimes dad will be capable and the child will be very atypical with the exact mutation.

Your DD could have the same deletion, never seem to be impacted and pass it onto her own children in which case you could have her re-live what you're going through. That would be something for which to feel guilty. 

That last paragraph...that's the reason we'll most likely do testing.  I'm nervous what they'll find, and even more nervous that they'd go on to test her and find she has the same deletion...but I suppose knowledge is power and at least then we'd have a head start with her.  Just one more thing to be added to the list of things we never dreamed we'd face when we started TTC, right? 

Interesting about being able to have the deletion but not the presentation.  A consult with a geneticist along with DH and I being tested was recommended.  Thinking we should take them up on that offer...though I'm not sure if it should be before or after (or maybe both) we are tested ourselves. 

typeset

Junebug060609 said:

Did you do the testing on yourself?

Yup. I'd meet with the genetic counselor or geneticist after (if you decide to) rather than before. He or she just won't have much to tell you otherwise. I'll caution they really don't know enough about most of these microduplications or deletions to tell you much anyway. The deletions are somewhat more common. 

I'll caution they don't always have the best beside manner. Our first geneticist was more keen on diagnosing us with something than she was discussing our son. She seized on my husband's chapped hands and started grilling him about washing obsessively--during the height of flu season. 

I'm kind of freaked out that dd might have a 50% chance at this same thing. 50%? So if one of us has this, we either passed it on or didn't?

Correct. 

Forgive the dumb questions, but is it possible DH or I have that deletion but don't show any consequences? (Can we be 'carriers'?)

Yes. The kid's mutation is inherited. No one in the immediate family has a Dx. There are some quirky folks, though. [cough] 

Also, if DD ends up having this same issue... would that answer the genetic questions as well?

Not necessarily. I'll add that our pediatric psychiatric geneticist discouraged us from testing the baby unless he shows symptoms. I agree with Auntie, though, and I'd rather he know for his family planning purposes. We haven't done it yet and will revisit down the road. 

thefuturemrskudla

For me, I want to know in case my DD can pass it along to her future children one day.  I think she should have that knowledge, to choose or not to have biological children if she carries a trait.

Assuming the DD has no signs, she can always choose to get tested herself when she's grown.