Thursday, March 7, 2013

Why Genetic Testing???

We have had a major breakthrough in therapy recently.  Jacob has been mimicking sounds of words for a while.  He doesn't use functional speech (asking for things or requesting or calling us by name) but he can mimic our words.  In therapy, Mindy has been reading him a color book every day.  Well, the little cutie memorized the color book with the "the end" and all and we get to have him read to us each day.  Talk about an amazing blessing!!! Also, Jacob has mastered the "all done" sign in sign language and uses it regularly when he is done eating or ready to get up from his work table.  This is such a tremendous blessing because he is communicating his feelings with us....FINALLY.  It only goes up from here. I can't wait to see how much he progresses within the next few months.  Hopefully, he will develop functional speech soon. Here is the video of Jacob reading his book with his Daddy.
Recently, my mom took a new job at Dallas Children's Hospital and found out that if we get genetic testing there, we can get about a 70% discount for not having insurance coverage and paying up front.  We kind of thought genetic testing was a unreachable goal until now.  This means that the $6000 testing can now be around $1700.  Still sounds like a lot of money, right?  Even with that discount Cret still wondered if we should get it.  What are the benefits of genetic testing?  I asked that very questions to Jacob's pediatrician, neurologist, and a friend who is a geneticist (and an autism mom).  Their answers varied, but I wanted to give some insight to those who have asked me what good the genetics testing will do.  I am not an expert on genetics and know very little, but here are some of the answers I received.
Benefits of genetic testing:
1.  There are certain genetic mutations that can cause autism, these will be detected in testing
2.  There are certain genetic diseases or health issues that can be detected that may cause significant health problems in the future (as the child ages they may need to be on ventilators, etc) and you can plan for these financially and mentally.  Also, there are certain conditions that they know are more permanent, so spending your life savings on intense therapy may not be the appropriate option and saving for their future may be more appropriate
3.  Once you get genetic testing, you are "in the system" for the children's hospitals.  This means that research studies and scientists looking into the specific genetic mutations your child has will now be able to contact you with information or studies relevant to your child.
4.  The neurologist told me that genetic testing is the standard care for a child with autism.  She was baffled that our insurance didn't cover it because it is the most basic testing for kids on the spectrum.  She also told me that if it were her child she would definitely pay out of pocket to get it done because we can have a better understanding of what is going on with Jacob and his body and health.
For all of these reasons I have decided that I would love to get Jacob genetic testing.  I have decided to start saving up for it.  We can't outright pay for it because we would have to cancel Jacob's ABA therapy for about a month and a half, and I don't think it is more important than therapy.  However, it would bring great joy to my heart to get more answers about his health.  There have been some health issues with Jacob that we (myself, my husband, and my mom) have always been curious about.  His digestion is always off, he is extremely small, low muscle tone, always sick...and I am hoping eventually we can get to the bottom of it.  Like his neurologist said, this is just the standard procedure of care for him.  I realize it isn't an emergency to get the testing done, but what mom wouldn't want more answers to a health issue (AUTISM) that raises so many questions?  There is just so much still unknown and I would like to get the very best care for him possible.  I am not in a mega rush to get it done, but have decided to begin saving so that one day we can get him the testing. 
We have decided to begin our savings with a fun little fundraiser.  My sweet friend gave us the idea to collect donations from people for our neighborhood garage sale on March 23rd.  We have already had a few friends donate some pretty amazing things for this sale.  I am so overwhelmed and grateful by people willing to help.  Asking for donations and help isn't really the most fun thing in the world to do, but I am so humbled when people are willing to.  Thank you.  Also, Jordan and Skyler and Kaylee will be selling snow cones at the garage sale to earn money towards his genetic testing and we will hopefully have signage up for the worldwide autism awareness day on April 2nd.  April 2nd is "Light it up blue" for autism day and last year we had signs up, wore blue and had blue light bulbs in our outside lights.  My super sweet sister did that as well.  She is such an amazing gift to my life and our family.  Anyways, its a pretty cool day to raise awareness for people on the spectrum and the much needed research.  If you have a business that would want to participate in the worldwide autism awareness day or you personally want to light it up blue for autism on April 2nd please visit for more information. There will be some major businesses in downtown Houston that will be all blue for that day.  It should be pretty cool. 

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