Well after waiting for what seemed like two VERY long weeks to go over this mass amount of info from Anthony’s 23andMe results. I finally have more answers, and less questions. =-)
Dr. Sletten isn’t so much concerned with Anthony’s one homozygeous CBS mutation. Why? Because Anthony’s ammonia levels on his NutrEval test show normal. And his sulfur levels are normal on sulfite pee strips, and his glutathione levels are good. So, it sounds like the other CBS genes that are both -/- are doing the job well.
Anthony’s two homozygeous BHMT gene mutations, and one heterozygeous BHMT gene mutation, seem to be the cause of Anthony’s troubles. Dr. Sletten said gene mutations can effect people in a lot of different ways. It seems like my husbands side of the family has a history of speech issues. And being there is a homozygeous gene mutation for BHMT, and Anthony and my husband Larry have both positively responded to TMG, my husband could be homozygous for this gene mutation as well. We will both be getting checked in the future with 23andMe.
Being Anthony has issues going on with all 3 of his BHMT pathways, Dr. Sletten says Anthony will need to stay on TMG, for life. And possibly need to stay on phosphtydlserine, and CoQ10 too. In regards to dosages and such, Dr. Sletten said it would be worth while to play with the dosages of TMG and phosphtydlserine. We both believe that Anthony might need a bit more phosphtydlserine. I currently give him 200mg in the morning before school. He does great in class and keeps it together, but seems to fall apart from exhaustion and anxiety after school. Which results in a explosive tantrums at least 1-2 times a week. Sometimes he even naps after school. His body is just done from having to use so much energy to stay focused and on task. So we think the phosphtydlserine will help with this if I give him 1 capsule when he gets home from school.
We also talked about possible L-Carnatine to help with Anthony’s low muscle tone. The kid literally has no fat on him. Never has. And he has that floppy’ness with his legs and arms. We will explore this at a later date.
Dr. Sletten also mentioned that since Anthony has 2 VDR (Vitamin D receptor) gene mutations that are heterozygeous, and he might need a bit more vitamin D supplementation than the average person. After a year of being on Vitamin D supplements, his levels were still barely normal. So we will work on that.
So that is a brief summary of our biomed appointment. I am thrilled we did the 23andMe test for Anthony. And plan on doing it for the rest of my family at a later date. It was well worth the $99.
I also wanted to add how much comfort this test gave me. The results were totally Anthony, and explained so much. The results gave us reasons behind many questions that I wondered for a long time. Questions such as, why did Anthony respond so incredibly well to DMG and TMG, while some children don’t respond at all. Why did epsom salt baths make Anthony so hyper? (sulfur) And why did he have such a horrible time with detoxing. A homozygeous BHMT gene mutation was behind it all. Dr. Sletten knew from the very beginning, that methylation pathways were a big part of Anthony’s health issues. And thankfully because of Dr. Sletten, we have had great success with Anthony healing. I know in my heart, Anthony would not be in a mainstream class with no aid, and therapy free with out Dr. Sletten’s help.
If you are interested in ordering a 23andMe kit, or learning more about the test. Click here.