Home » Autism » The Awesome-Ness of Dr. Brian Skotko, Part 3

The Awesome-Ness of Dr. Brian Skotko, Part 3

One of the things that Jack’s Geneticist and Down syndrome Specialist, Dr. Skotko, had recommended was gene sequencing.  He referred us to a company called GeneDx that can perform a test called XomeDx, which analyzes 20,000 of your 25,000 genes.

2013.10.17 XomeDx 01

2013.10.17 XomeDx 02

2013.10.17 XomeDx 03

And so our next step was to see how much this testing would cost.  Would our insurance cover it?  Would we need to pay out-of-pocket?  And if so, how much would it cost us?  Would I need to sell a kidney?  Or perhaps both kidneys?  Well I just heard back from GeneDx today and after our insurance pays their portion of the testing, we only have to pay $98 out-of-pocket!  Can you even fathom that???!!!  No, no you can’t.  We may not have money to throw around, but we can certainly pay $98 to have 20,000 of Jack’s genes tested!

I was floored by the good news!  So Jack will receive his XomeDx bloodwork next month at MassGeneral in Boston.  What the results will be is anybody’s guess.  Seriously.  I mean, he’s already got several chromosomal abnormalities.  I can’t allow myself to consider how many gene anomalies Jack may have.  For the sake of my sanity, I’m just going to remain excited that we only have to pay $98 for testing that Jack needs.  The possible implications of such testing?  We’ll deal with that at a future date.  But I have a feeling that I should probably book an appointment with my therapist for the day after we receive Jack’s XomeDx results.  And, oh how I wish I was kidding!

Tomorrow is a HUGE day for us as well.  That’s when Jack will have a sedated CT-scan of his sinuses, a sedated MRI of his brain, MRA of his brain, and MRS of his brain.  In addition to those tests, he’ll also have a repeat EKG and his blood drawn to retest his plasma amino acids while he’s still sedated.

In my previous post, I had mentioned how Dr. Skotko was appealing our insurance company’s denial of coverage for the brain MRS.  Well, this guy knows how to get stuff DONE!  The procedure will happen tomorrow as originally planned!

Unfortunately, I’m as sick as a dog.  So Dave volunteered to take Jack to MassGeneral by himself.  That’s so beyond incredible I could cry!!!  I’ve been a zombie all week.  In fact, I literally took a shower tonight for the first time in a week!  Disgusting, I know!  The laundry situation was just out of control.  The sink was full of dirty dishes perched precariously on top of one another.  The recycling bins were overflowing.  The trash hadn’t been taken out in days.  We had run out of Pull-Ups for Jack.  So I pushed myself today to take care of it all.  Now the house is back to its normal level of disgustingness!

So there you have it!  If you have a child with Down syndrome or autism, ask your Geneticist if XomeDx testing would be beneficial for them.  (I feel like I was just quoting a TV commercial right there!  But seriously, it doesn’t hurt to ask!)


Pink Sweatpants

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2 thoughts on “The Awesome-Ness of Dr. Brian Skotko, Part 3

  1. My daughter is 15, has a lot of down syndrome features yet the 3 times I’ve had her tested they all come saying she gas all her chromosomes. She is intellectually delayed as well. I’ve accepted the intellectually delayed diagnosis but I want to know why and why she has the down syndrome features but has all her chromosomes. As a mom you want to know these answers because you want to know if her brothers stand the chance of having kids with the same condition. Its the unanswered questions that drive you crazy. She was tested at uab genetics in Birmingham Alabama. I would appreciate any help/guidance you could offer.

    Elaine Thomason

    • Gosh, I’m kind of at a loss. I’m the same as you–I wouldn’t stop looking for answers until I got some that made sense. Oddly enough, years ago I saw an episode of Extreme Makeover where they did extensive plastic surgery on an adult woman who had what they referred to as “syndromic features,” but absolutely no genetic abnormalities. She had no form of developmental delays whatsoever. But what concerns me is that you mentioned that your daughter does have developmental delays. I would suggest calling the geneticist and demanding the GeneDx testing or something similar. Find out how much insurance would cover since this is a medical necessity. The geneticist should have a way of medically coding the reason for the testing to show that it is a medical necessity. I don’t understand why her doctors aren’t more concerned. That doesn’t make sense to me. Perhaps call a Down Syndrome Clinic at a large hospital and ask them what they require in order to schedule an appointment for your daughter. Typically, you will need to provide proof that your daughter has Ds (in the form of medical test results), but perhaps they can at the very least point you in the right direction. There are 3 forms of Down syndrome–Trisomy 21 (what Jack has), Mosaicism, and Translocation. Do some research on the latter 2 forms and see if her genetic testing included testing for them as well. Please keep me updated. Best wishes on your journey. I completely understand how frustrating and overwhelming it is. ❤

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