Genetic Testing and What to Expect

[leahthemom]

I've been a lurker for years, but this is my first real post.

My two year old son has had some obstacles throughout his young life, but it's never been anything that we couldn't handle.  Failure to thrive, an apnea episode during breastfeeding in which he required CPR to come back to life, acid reflux, and a lot of vomiting.  He also has a speech delay.  His pediatrician recommended he be seen by a specialist at a children's hospital at a university two hours away.  He was supposed to have his speech delay evaluated that day, but as soon as the doctor saw him she immediately switched her focus to some "facial features that" were "of concern" to her.  These were all things that I have never noticed, or never thought were out of the ordinary.  She mentioned ptosis, epicanthal folds and said his eyes measured small.  She ordered genetic testing done.  My heart sank.

Since then, I haven't gotten much sleep.  I have been reading about all kinds of genetic disorders.  I know I'm not supposed to do that, but I just can't help it. It's a compulsion.  Not only that, but I've noticed features that my son has that are very much indicative of a genetic or chromosomal disorder.  The epicanthal folds are very pronounced, but he also has a bent in pinky. His weight is in the 3rd percentile, his head circumference is also in the 3rd percentile, but his height is in the 50th.  He still has reflux, but it's managed pretty effectively with medication.  His speech and communication is around what a 13-15 month old's should be, but he walked at 11 months.

Until the genetic testing is done next month, I'm in a state of constant anxiety.  What can I expect?  Feel free to look at my son's picture and let me know if anyone has any ideas.

[BeautyforAshes]

I don't have any great advice, but just wanted to send hugs.  I'm sure all that was terrifying to hear.  I would hate to hazard any guesses about him based on his appearance.  It's all just speculation until you get the definitive testing.  I would try not to drive yourself crazy looking things up, especially since you don't know what you're looking for--you're just torturing yourself with "what-ifs".  Just keep loving your boy for who he is, and when you have the facts, you can start working on whatever needs to be done (or not).  Keep us posted--

[leahthemom]

Thanks for the hugs. I know this forum is full of caring people.

[askew]

He looks a little like my DD, who has a chromosome deletion. They have the same eyes. I think he is super duper cute! 

My best advice is to stay away from google until you know for sure, and maybe even after. The "literature" always seems to have the worst case scenario. With my DD's syndrome they said IQ of 50. In reality there are people who are driving and in college, and people with more sever disabilities. There is usually a wider range than genetics will tell you and only the most severe get reported or studied while the more mild cases get overlooked. We connected with a yahoo group and got a lot more information that way. 

Another great piece of advice I got was to remember that no diagnosis will tell you your child's potential, only they can show you. :) 

[babygirlie]

I'm also waiting for our genetic testing and my heart is in my throat. I hate anticipation. Not a fun position to be in. Just stop by to give you hugs and he does look beautiful and "normal" to me.

[leahthemom]

Hi everyone-  I got a report from the disabilities clinic that my son went to last month.  It gets even weirder.  Apparently, my son has small palpebral fissures, hypertelorism, mild ptosis, and irregularity of the ears.  The ears?  I didn't know that.  His weight is low, his height is normal.  Hey, the good news is that the report starts off by saying "A cute little boy".  :D  Add into that the epicanthal folds, and the bent pinky fingers, I'm getting even more worried about what these tests are going to reveal.  It seems more and more likely that there is something going on. 

They gave him a mental test of sorts.  His everyday living scores (communication, socialization) were "mid-borderline" and in the 5th percentile for a child of his age.  His motor skills were in the 14th percentile.

This is such a hard pill for me to swallow, because he's my only child. He always seemed so normal to me. A little behind, but the 5th percentile?  Wow. 

God, grant me the strength to stay away from Google searches!!!

[momtoalexsarah]

Your picture looks like my DD as well, she has an unidentified chromasone ise we issue (22 deletion is the one we belive to be involved but the testing comes back negative)

My DD had a hard first few years, many of the things you discribe.  In the photo I am seeing the ears (slight cupping) and the spacing on the eyes - wide hypotolerism. 

You say that he had bad reflux and vomiting - did the vomit/ spit up come out the nose?  If so(and even if not) given the speech delay i would have him cheaked for a sub mucus cleft palate.  This can cause a profound speech delay, the good news is the 80% will grow out of it with speech threarpy, for the others there is a surgury (my DD had surgury 2 years ago and has great speech now) she is almost 5.

here is a link to some pictures of my DD

http://www.facebook.com/album.php?aid=72044&id=528294244&l=c66f4cdc06

[leahthemom]

Your daughter is SO beautiful, and I love those gorgeous eyes. I don't see anything out of the ordinary at all, but I didn't really with my son either.

Yes, my son DID have vomiting out of the nose.  He has to have his liquids thickened, or else he came keep them down.  He still vomits on a regular basis.

Does your doctor expect the deletion, or how did you come to that?  If the genetics come back negative, then how do you know if she has the deletion?

[leahthemom]

Oh, and there are MORE pictures in my profile. :)

[momtoalexsarah]

We did a specific test for a 22q.11 deletion and also a broad spectrum assay test.  Niether picked up anthing, Megans signs/symtoms are indicitive of Velocardiofacial symdrome - in 90% of VCFS a 22q.11 deletion is found - 10% the deletion is not found.  It may be a different  chromason annomaly or the deletion on 22q.11 is smaller then the 4 segments tested for and so not picked up on a FHS test.  Megan is treated symptomaticly, so for her reflux she had meds, she has ear issues so she has had tubes. Her cleft palate was surgicly repaired because she was getting constant sinus infections, her speech was severly delayed and generally was having alot of health/immune issues because of the constant impact of the regurgitaion.

I doubt we will look any further for a specific ID for what she has because a name won't change much for her as she is treated she need stuff.

Even the fact that a chromasone  issue is suspected should open the door for your son to get PT, OT and ST.

Just out of curiosity where are you from?

[leahthemom]

I'm from Iowa, but I live in an metro of about 500,000. 

We are getting in home services through the school district here, and also at the center for disabilities at the state university.  He also started speech therapy at the children's hospital here. 

An aside, I've been researching "small palpebral fissures" and all I can find are articles on Fetal Alcohol Syndrome.  This is disconcerting to me, because I didn't touch a drop of alcohol for my entire pregnancy, I was very careful.  I don't do drugs, I don't even smoke. 

[askew]

Stop googling!!! 

All of those signs could mean about 100 things. When they suspected a genetic issue with my DD I came up with all sorts of weird signs and possible syndromes. None of them were correct. So many genetic disorders all have the same list of possible "signs" and each person usually has only a few of them. Until you have the test results there is no way to figure out, really. It would be like finding a needle in a haystack. :) How long until you get the test results?

[leahthemom]

I'm sorry, but I just HAD to Google the stuff that was in the report that I received in the mail today. 

His testing is on Feb 9th.  Then, there's the waiting after that.  I understand it can take weeks and even months for the results.

I went almost two weeks without Googling, but the report had some new things that arose my curiosity.  But, you're right, I'm not finding out anything constructive, and I'm just driving myself crazy by it.

[askew]

Well, a basic chromosome test should be back in 10 days or less. The big microarray takes 3-6 weeks. Hopefully they will do both. We just did the basic test and it showed the deletion. I wanted the microarray to find out the size of the break, but our insurance would not cover it. They denied the cost 3 times. You might want to make sure the test is covered before you have it done, if that is what is ordered. The cost is around 4K. 

[Treece]

I wanted to send hugs I've been where you are waiting for the testing and not knowing. It's the not knowing that is the worst. But once the tests are done and you do know it really does feel better. I'm with everyone else: try to stop Googling. It won't solve anything. Just come here, we'll support you. Good luck Leah.

Oh your son is a doll baby!! He looks so happy and really, isn't that all that matters?

[babygirlie]

Well our insurance just denied testing as it won't change treatment; so now I have to live with wondering... ugh!

[caldo]

Hi Mama,

I couldn't read this thread and not reply. I can't imagine the worry you're going though. It's so hard not knowing. I just wanted to comment on all of the "features" they say your gorgeous son had. It's essentially the job of the geneticist to look for these 'markers' of different things. Plenty of people without any sort of delay or problem have the bent pinkies, smaller eyes, different shaped ears. Sometimes all of those things in combination can help a geneticist look for a diagnosis. They certainly don't take away from the beauty of your child.

(((Hugs))) that all goes well and you will get some answers and great care for your son.

[askew]

Originally Posted by babygirlie 

Well our insurance just denied testing as it won't change treatment; so now I have to live with wondering... ugh!

For the basic chromosome test or the microarray? Mine did the basic one, but denied the microarray for the same reason. I had another mom say to have a different department order the test. Like instead of genetics have neurology order it. Sometimes they will approve things when they come from a new source. 

[babygirlie]

This was for fragile X at a large autism center. I wonder how much it would cost out of pocket *sigh*. They also denied another very expensive device and I'm at my cc max. Stupid crappy insurance. I guess their stance is she has autism regardless so who cares why. Well I do!

[Emmeline II]

Originally Posted by babygirlie 

This was for fragile X at a large autism center. I wonder how much it would cost out of pocket *sigh*. They also denied another very expensive device and I'm at my cc max. Stupid crappy insurance. I guess their stance is she has autism regardless so who cares why. Well I do!

You should exhaust your appeals process.