Back in November, Dr. Catanzaro recommended that we do the Gene Savvy genetic test for Anthony. Even though we had done 23 and Me 2 years ago, he thought the Gene Savvy test could provide us with more answers as to possible health conditions Anthony might be having. The big question was, was everything Anthony had experienced over the years truly Autism and PANDAS? Or was this really something else?
(Formerly Courtagen Testing. Gene Savvy has same kits)
We already knew based on Anthony’s 23 and Me, that his thyroid and glucose/insulin metabolism were an issue.
This was also confirmed through blood labs. High TSH levels, borderline low iodine levels, low selenium, and a pre-diabetic A1C. We were truly on to something, and started treating these things with great result.
So while we waited impatiently for Anthony’s Gene Savvy results to come back, we implemented a diabetic type diet for Anthony. High protein, low carb, with a fat. I also have been tracking his blood sugar with a glucose monitor. This pic below was taken 2 hours after dinner one night. Too low! Before we found out about Anthony’s insulin/glucose issues, I would of sent him to bed without knowing he was having blood sugar levels this low. Implementing this change, has had a major influence on his mood swings he was having prior to.
We added selenium to his supplement list, and his OCD went away. His TSH has also dropped a point since starting selenium. He is still too high, but seeing a downward trend.
So then the day came that I received Anthony’s Gene Savvy results!! And out of what seems like thousands of genes that were looked at, Anthony had a few hits. 8 hits total. But 2 that have to do with glucose/insulin metabolism and fasting intolerance. (you can click to make these pics bigger)
“Resulted in inhibition of glucose-stimulated insulin secretion by 5%-69%”
“Some have a degree of intolerance to fasting”
Dr. Catanzaro and Dr. Boles consulted with each other and are having me make a few changes. We are trying Anthony on Magnesium Citrate, which is suppose to help with his glucose/insulin metabolism. Also have added Vitamin B2 (riboflavin) for the ACADS gene mutation. I will also eventually start him on some iodine for his thyroid. But one thing at a time.
Gene Savvy is currently mailing out test kits for myself, my husband and my 5 year old daughter. They will be testing for the variants that showed up on Anthony’s test results. According to the test results, they want to find out if these variants are “de novo” or inherited and to correlate genotype with phenotype. I of course will let you all know what this shows.
But what I am most excited about is, Dr. Catanzaro will be writing an article up for me, and all of you, explaining all of these results. I asked him if he believed Anthony ever had autism based on his genetic reports, since he has seen his 23 and me and Gene Savvy results. Dr. Catanzaro (and our new integrative pediatrician) both believe that Anthony’s thyroid and glucose/insulin metabolism has been one of the main root causes of his “autism symptoms”. Genetically he does not have any of the genes doctors find common with those with autism. In the article Dr. Catanzaro will be writing up, he will explain how Anthony’s thyroid,glucose/insulin issues could manifest as autism spectrum symptoms. I’m interested in reading what he has to say.
I have always tried to be honest and upfront on my blog. And to share everything I learn along the way. To hear two very well versed doctors, that deal with autism every day, tell me they don’t believe Anthony truly had autism…… Well it has hit me like a ton of bricks! At first when I heard this, I thought to myself. “YAY!” And then I thought… “OMG my followers are going to think I’ve been a fraud, a poser, a fake!” That they would think “Oh, her child doesn’t really have autism so everything she has told us, has no real bearing anymore” But then I got to thinking. If this happened to Anthony, to my child…… it HAS TO be happening to others!!! Although the label may not be correct, the symptoms are the same. It seems to be what we have thought all along is true. AUTISM IS MEDICAL! And this catch all diagnosis, is hindering some parents from exploring and digging for more answers. Answers that are there if we keep on perusing the issue. Our kids have medical issues going on, that CAN BE TREATED! But some parents hear “Autism” and just think, that’s it. But there IS A REASON! A CAUSE!!! Our children have autoimmune issues, mitochondrial disorders, vitamin deficiencies due to a damaged gut. And the list goes on and on. So we must keep perusing, doing the testing….. doing the WORK!
Genetic testing has been a big game changer in our journey, and I truly believe it is something everyone should peruse. I will keep you all updated as the rest of my families results come in. Until then readers, just keep digging!!