Genetic Testing Using “Genesight”

Amy shares a genetic test her son with ADHD and ASD had done by his developmental pediatrician and how the results have helped shape her son’s treatment.

My son is 3 1/2 years old and diagnosed with a severe communication disorder called Childhood Apraxia of Speech, Attention Deficit Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD).

For the last six months he has been on a roller coaster of medication trials to help get some of the ADHD symptoms under control.   He’s gone from Focalin, to Dyanavel, to Guanfacine with nothing seeming to be the right fit.  The Guanfacine offered the least side effects, but also the least results.  He is in a full-time Applied Behavior Analysis program and was so wired during the first half of the day that therapy was becoming a challenge.  He would then crash mid-morning and fall asleep which meant he was then missing several hours of therapy.

I called his developmental pediatrician and asked if we could discuss trying yet another medication.  She said she first wanted me to bring him in for a test called the “Genesight“.

The Genesight is a genetic test that examines the patient’s DNA, collected simply from a swab from inside the cheek, and then analyzes that against certain medications.  It works in four different areas. For one, it tests how patient’s genes respond to psychotropic medications for neuropsychiatric conditions such as depression, anxiety, bipolar disorder, panic disorder, posttraumatic stress disorder (PTSD), premenstrual dysphoric disorder, obsessive compulsive disorder (OCD), and schizophrenia.  It also tests how a patient’s genes respond to analgesic medications for patients who suffer from acute and chronic pain conditions such as osteoarthritis.  In addition, it tests how a patient’s genes respond to stimulant and non-stimulant medications used to treat Attention Deficit Hyperactivity Disorder.  The final test is the MTHFR test.  This test analyzes the important MTHFR gene which converts folic acid into it’s active form L-methylfolate.  L-methylfolate is integral in the production of dopamine, serotonin and norepinephrine.  If the patient has a mutation of the MTHFR gene a lot of the neurological symptoms they may be having can be a result and treatment simply involves taking an active folic acid supplement.

After my son had the simple procedure done it took about a week for the results to come in.  The report breaks down all the medications currently FDA approved to treat the above conditions and then categorizes them into three color-coded areas: green being medications that should work best for the patient, yellow is moderately successful medications and red medications were ones that showed significant gene-drug interaction and shouldn’t be used. Sample_Report_ADHD_1.2.1.3   The report also shows the MTHFR results using the same format:  green, the patient has normal folic acid conversion, yellow the patient has moderate folic acid conversion, and red the patient has significantly reduced folic acid conversion.  In other words, mutation of the MTHFR gene. Sample_Report_MTHFR_1.0.0.2

The results for my son were very telling of what we had been seeing. The medication he was currently taking, Guanfacine, was in the yellow category so it was moderately effective.  In his green category was Adderall.  Adderall is a stimulant and physicians are cautious when prescribing it, especially to young patients.  However, it was clear that was what would offer him the best results.  The physician also showed us the MTHFR report and my son did show red, a significant reduced folic acid conversion.  In other words, he was taking a medication that wasn’t working for him and his MTHFR gene was mutated.  There is some scientific research that mutation of the MTHFR gene can cause  symptoms seen in conditions such as ADHD, ASD, depression, anxiety and more. So offering him the supplement, L-methylfolate, may help some of his ADHD and ASD symptoms decrease.

We left with two prescriptions, one for Adzenys, a methamphetamine similar to Adderall, and for Enlyte which is L-methylfolate (or activated folic acid.)  We spent a few days weaning him off of Guanfacine and a few days slowly increasing the dosage of the Adzenys. Almost immediately, his ABA therapists noticed a marked improvement in his ability to focus and in compliance.  We just received the Enlyte and are anxious to begin the supplement with him.  We will be consulting the experts at Enlyte in the upcoming week for their recommendations for dosage and how to administer it.  We look forward to seeing what results that will bring.

In closing, the experience of having the Genesight test done has been very informative.  If you have a child who takes medication for ADHD, who is diagnosed with ASD, or you know someone who suffers from conditions such as depression, anxiety or chronic pain, share this information. It may be a conversation they want to have with their healthcare provider.

By coming forward and sharing your story, you don’t know the countless lives you may change. – Mariska Hargitay

 

 

 

 

Author: bigabilities

Amy Nielsen lives in Orlando, Florida. She is the proud mother of four children ranging in age from 3-30! She and her husband, Brent enjoy sports and traveling. Amy is a former teacher with 20 years experience, a freelance writer, and special needs advocate. Her mission is to help educate and empower families of children with disabilities to focus on their child's interests and strengths.

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