Missing Genes…

About a year ago, I came home one day, arms full of toys,  my son’s half eaten Happy Meal, his water bottle, and grocery bags and saw the light from our answering machine blinking in the kitchen.  After setting everything down, I pushed “play” while I made an effort to put some things away in the fridge.  My son found yet more toys and brought them in the kitchen so I could, undoubtedly, step on a few  when I left the room.

The message was from some lab or another telling me to call them back because my son had been referred by his pediatrician for genetic testing.  Genetic testing.  How will that help my son?  The first thought I had was that this was solely for the future families that ended up with a child on the spectrum.  This was not going to help my son right now and, in my admittedly selfish mode, that made me mad.  Why wasn’t she working with me to help my child?

This happened early on, after he was first diagnosed with autism and it was one of the first steps our pediatrician took.  She never talked to me about it in the doctor’s office.  She never warned me that she was going to do it.  She just let a stranger leave those words on my answering machine.

I had just come to grips with the diagnosis.  I was struggling to find a speech therapist – the one thing she had mentioned to me – when I got this message.  I was scared.  I felt like I was climbing Mount Everest and she was asking if I could give her our ice pick, rope, and a map back down at home base for some other folks that had to do the climb. How could she do this without explaining what it was for?  And so, I called the pediatrician – not the lab.

I got the standard recorded warning that “if this is a life-threatening emergency, hang up and dial 9-1-1.”  I was to push “3” for pediatrics and listen to disco music on a very deformed speaker set to maximum distortion volume.  Then, after five minutes or so, I got excited thinking I’m getting a live person because the “music” stops and I hear a click.  Sadly, I get the standard recording, “We’re sorry.  Your call is important to us.  Please continue to hold.  We are experiencing a high call volume.”

These guys train to protect my son's pediatrician...

When, five to ten minutes later, I finally get a live person, it is not anyone who could help me.  Of course.  The layers of Secret Service protection that surround my pediatrician’s very existence would not actually let me speak to her.  I get the “phone answerer”.  This person then asked me for my name, rank and serial number, and my son’s name, rank and serial number. Then, she asks me if I am “Karen”.  They always do this.  They ask who I am.  I tell them.  They supposedly type it in.  They bring up my son’s information, read it to me and then ask me who I am again.  Nothing like that to make you all warm and fuzzy inside.

I tell them what has happened.  My son is yelling and laughing and pushing buttons on “max” volume for his toys while I do so.  They mutter about leaving a message for our pediatrician and that she will call me back. Whatever.  I don’t have time for “genetic testing” as I’m quite sure it will tell me nothing.

For weeks, the lab calls again and again, leaving more and more messages, each angrier than the last because I don’t call back.  And, for my part, I get more and more mad that no one will tell me why I should do this.  Really?  Do you need to bill for that so badly?!  I ignore the calls and wonder when our pediatrician will call me.  She never called us back.  I finally tell the lab person that the pediatrician never explained to me how genetic testing will help my son, or if it would, and I would not be coming in for this testing unless someone told me what it was for.  She understood and told me to call if I wanted the test.

A year passes.  We see the pediatric neurologist.  He tells me that he wants to make a referral for genetic testing (along with many other tests including our EEG).  This time he explains that there are treatments based on certain outcomes of genetic testing.   And finally, out of respect for my pediatric neurologist, we go.  My son was tested by blood draw which was, relatively speaking, fairly easy.

So now I have the results.  My son is missing at least 11 genes.  The actual test results say they are of “unknown clinical significance” and that similar deletions have not been seen by the lab or in the online genetic database.  When I spoke with a nurse practitioner about it, she said it will not change my son’s treatment.

I know other people who have had the genetic testing and the results made a difference in treatment and responsiveness of their child.  Not so in this household.  So, my gut was right from the beginning.  Genetic testing was not useful for us.  I’m not saying it can’t be for anyone else, but much is still unknown in the field of genetics and genetic testing, in particular, related to autism.  If you go in knowing that it is doubtful that it will help, this kind of news may not bother you much.

It’s just another example of how little is known about what causes autism.  The “experts” tell us that they have no idea what this genetic deletion means or even if it means anything at all.  Another struggle to try and find answers.  Another dead end.  The score remains the same.  Autism 1 – My family – O.

But this is much bigger than any game, and it’s not over until we win.


About solodialogue

I'm a lawyer and the mom of a 6 year old boy with autism. I work part time and spend the rest driving here and there and everywhere for my son's various therapies. Instead of trying cases, I now play Pac-man and watch SpongeBob. I wear old sweaters and jeans and always, always flat shoes to run after my son. Yeah, it's different but I wouldn't change it for anything. The love of my child is the most powerful, beautiful and rewarding aspect of my life.
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22 Responses to Missing Genes…

  1. Ugh, enough to drive you crazy, isn’t it? As there is also a nephew on my husband’s side with ASD, we wanted to do genetic testing, but were advised against it on the basis that we weren’t planning on future children, and we really didn’t need the added expense. It may become a consideration for our children if they wish to become parents. Perhaps by then they’ll have more answers, and the whole thing will be more affordable. How frustrating for you now though.

    • solodialogue says:

      You know, I never even thought of it as a cost because our insurance company fully covers the cost of the genetic testing. I guess we have “good” insurance, then…

      We too, were advised to undergo the testing if we planned to have more children or if our children were planning to have children. We aren’t. Yes, maybe by the time our kids have kids, they will have more answers. I certainly hope so.

  2. mamafog says:

    That is tough. I’m sure it must feel like autism is winning. It seems to me that for your son, having such an awesome and devoted Mom must make him a winner.

    Maybe future research will come up with more information. But you are right, the experts don’t have much expertise yet.

    • solodialogue says:

      You are so kind to say that. We all do the things we do out of love. I’m no different. 🙂

      Hopefully, the “experts” will find the right path sooner than we anticipate.

  3. My son was diagnosed with Encephalopathy, speech delay, PDD NOS, and sensory processing disorder. He had a chromosomal micro array test done and it showed that he has a small duplication. They did the same test on me and my wife. Mine came back normal, while hers showed the exact same small duplication as my son. Neither myself or my wife are autistic or have had anything similar to what my son has going on. We just got my wife’s results this morning. The geneticist told her that genetics is not the cause of my son’s autism. In my son’s case there are only 6 others with the same duplication on the same chromosome. Others have different health issues going on, but none with autistic spectrum disorders. And even with that, they can’t say that those health problems are caused by the duplication.

    I think that the source of the problem is so many people blame autism on genetics, but genetics can’t substantiate the claim. To me, it is either something environmental, vaccines or certain medications that a large number of children would receive while in utero through the Mother. Maybe in a minimal number of instances, genetics could show a link to autism. I do have the link to a case awarded by the Vaccine Injury Court, to where the court determined a link between the vaccine and encephalopathy, chronic encephalopathy, features of autism spectrum disorder and seizure disorder. She had an underlying health problem and the vaccine triggered the other health problems. The family was awarded millions of dollars. The case is also now sealed. I would love to see the medical and diagnostic studies associated with the claim. From my point of view as a Claims Adjuster, the case makes sense and the medical and diagnostic studies would have been able to back up the alleged injury.

    I do like the genetic testing though because it can show what others have issues with and can give an idea as to what parents might want to keep an eye out for. One of the things in others with my son’s duplication is heart issues. We are going ahead and getting him seen by a cardiologist just to rule out any problems while he is young.

    • solodialogue says:

      Your son has a duplication – mine has a deletion. We will see how the parental testing goes… I think – although have no way to know of course- that my husband will be the one to match genetically to my son which will again rule out genetics as a basis for my son’s autism as well. We are facing a similar outcome in that there are 2 others with “overlapping” deletions but they suffer from entirely different disabilities which are much greater and their genetic issues are much, much larger than my son’s.

      I’m certain that someday, people will understand the relation of genetics and autism. Unfortunately, I don’t see that happening anytime soon. Your comment is quite detailed and interesting. Thanks for sharing, Robert.

  4. Flannery says:

    We had genetic testing when I was pregnant, because of an abnormal amnio. Mind you, I was 11 weeks pregnant, with only one week to go,legally, if we decided to terminate pregnancy (which we obviously didn’t).

    UCLA told us that there was some slight, minor little glitch on one of his genes, but it matches my gene with the same little glitch. They didn’t know what it meant…could mean an ingrown toenail, who knows?

    So basically, it did nothing for us either. But someone got paid, right??

  5. Karen, I’m sorry. I can almost taste the despair in your writing over these last two posts. I know this whole diagnostic thing can be exhausting — believe me, I’ve been there.

    There is a silver lining (however small). You’ve ruled out a bunch of crap through the genetic testing. You don’t have to go there again — ever. You’ve passed this test and now you can forget about it and get on with life — *without* the nagging “what if?”

    And that’s exactly what you’re gonna do, girl. Pull yourself up by the bootstraps and go order yourself skinny chai. Play with T. Hold him and love him and enjoy him and save your doubts for another day.

    Hugs for you sister. Big, big hugs.

    • solodialogue says:

      You do read me too well. I’ts a bit scary! Wait til you see tomorrow…

      I guess ruling out crap is good, right? You have good timing. I really needed those hugs… 🙂

  6. Julie says:

    Dylan has a deletion at 16p11.2. Interestingly, while he’s not autistic, it’s one of the deletions associated with autism.

    When we discussed the genetic testing, our developmental pediatrician said that it’s a very new science and quite often, they will find things that they just don’t know about. In those cases, they will then test the parents and if they find the same deletion (or duplication) and the parent is NT, then they know that is not causing the child’s issue. Did they say anything to you about testing you?

    By thte way, it wasn’t a waste of time for 2 reasons… first, you now know that your son (at least for now as they discover new things genetically daily) does not have a genetic problem and secondly, his results may help others in the future. {{{hugs}}}

    • solodialogue says:

      Hello 16p11.2! T is a deletion at 1p22.3.

      Yes, parental testing is in the works. As I told Robert, I think my husband will match and genetics will not be the cause but that’s just my mommy gut talking.

      As far as knowing he does not have a genetic problem, we don’t know that yet… they said it was of “unclear clinical significance” – they just don’t know. Hopefully, his results will help others someday. Maybe those others will even help us… 🙂

  7. 1. You guys still use an answering machine?

    2. Sorry you ended up at another dead-end. I won’t get started ranting about doctors and health insurance and the ridiculous amounts of money they think their time is worth… but I will say I like what Karla said! Go give Tootles a hug and take a few days off from trying to figure it all out. You deserve it.

  8. My son’s life changed with his “genetic testing”. They mishandled it, hurt him severely, traumatized him and now, nearly 12 full months later, it still has repercussions throughout our lives. Since then he has lived in fear of nakedness, water and anything bathroom or naked-related (like swimming).

    We never got the results of our genetic testing…

    …Because they lost them.

    It still makes me furious to think about. It’s a really heartbreaking memory because it seems that most of his problematic behaviours started then. Before he was different and had no speach, but he also had no anxieties or fears. Now he has both.

    Thank you for sharing.

    • solodialogue says:

      Gah!! That is just horrible. I wonder if there is any way that a child psychologist or even an ABA trained therapist can help him overcome these difficulties he has. I hope you can or have found someone who will help you. All our genetic testing involved was a blood draw and it took under 2 minutes. How did this happen to you? Can you send me the link to a post? Regardless, my dear, I send you ((((Hugs)))) I know from our EEG experience – when they mess it up, it is awful. They can rebound, though, quite well. I hope that for Taz. 🙂

  9. of course I meant speech. Please don’t look!

  10. Grace says:

    I am so over pediatricians right now. Oh. My. Gawd. You have no idea.

    I asked our Dev Ped about genetic testing. She said as a doctor she likes it because it can provide really interesting information, but from a practical standpoint it most likely wouldn’t provide any new insights or change our plan for Ryan’s care. In the end she advised against it.

  11. eof737 says:

    All that testing and they can’t even give you insights on what they think might possibly be interpreted from what they read? Yes, convoluted but come on… Karen, I feel your pain. Oy vey! 😦

  12. yoyo says:

    We are doing genetic testing. it seems that may be the only way we get any answer to what is wrong with our son!

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