Monday, June 12, 2017

My Genetic Testing Update


We’ve been on a journey in our family to get to the root of some of the issues we’ve been having. The first issue we started addressing was Henry’s struggle with self-regulation. It’s something we heard from teachers for multiple years before we finally took action. When he was five years-old, we started him in a play-based therapy. When his issues didn’t resolve themselves, we had him get tested by a neuro-behavioralist (recommended by the therapist). Those results came back pretty inconclusive. He said Henry might have ADHD in a few years but for now it just looks like anxiety.

He didn’t have any solid answers about why a five year-old would have anxiety, but he mentioned genetic testing and food sensitivity testing. Both of those tests (both administered by different people at different places) revealed issues that are linked to anxiety: a gluten-sensitivity which means his gut is malfunctioning and he’s not producing dopamine and serotonin well and issues with his MTHFR gene (which means he doesn’t process folic acid well, which means he doesn’t produce dopamine and serotonin well). Overall, the assessment was that he only had control of 70% of his behavior.

The psychiatrist who did the genetic testing prescribed a mega-dose of folic acid, and we have seen huge changes in his behavior because of it. We also took him off gluten.

Meanwhile, Matt and I used 23andme to get our genetics tested. I shared my report with a functional medicine doctor in my town, and it was a fascinating experience. It was similar to having tarot cards read! She would ask things like, “It looks like you might be particularly sensitive to strong smells. Is that true?” Check. “It looks like you might have had some trouble with pregnancy. Like a miscarriage. Is that true?” Check.

Basically, she shared the following things:
  • My body doesn't methylate well. The link explains what that means better than I can! My body's ability to methylate is compromised by about 40% (Henry's is about 30%). 
  • I am compound heterozygous with MTHFR and have both the A problem and the C problem. 
  • Out of the 26 genes related to methylation that my doctor looked at, I have issues with 11 or 12 of them. 
  • My body has a hard time absorbing B-12.
  • I have a strong need for cruciferous vegetables like broccoli and cauliflower. 
  • I have a double mutation in DAO so I should avoid high histamine foods. 
  • I have a double mutation in HLADQA2, which apparently means I should not eat gluten. 

Which led her to the following recommendations:
  • I should stop eating gluten.
  • I need a diet with more vegetables and fewer grains.
  • I need to take Vitamin D with K2.
  • I need to be on close to 1,000mg of B12, if not higher. I need it to be methylated and it should be in the form of a lozenge or cream. 
  • I should go on a mitochondrial support like PQQ.
  • I should drink green tea and matcha.
  • I should start taking a fish oil pill.  

Before I take any of the supplements, however, I’m going to go to my general physician and request a bunch of lab work. This is what she recommended:
  • Homocysteine levels
  • Vitamin D levels
  • Check HSCRP
  • Hemoglobin HGA1C
  • Full thyroid panel: TSH, Free T3, Free T4, TPO, TG Antibodies, Reverse T3
  • Celiac panel (because I have a propensity for celiac disease)
  • Lipids
  • Iron: CBC, Ferritin, Iron study

Then I’m going to e-mail it to the functional medicine doctor and do a phone consult with her to see if my baseline results cause her to recommend anything different.

I’m also going to do a stool test and a urinary analysis through her.

Then after we have all the baseline data, I’m going to start the supplements and make the dietary changes. Then we will do the lab work again and see if there’s been any change!

She recommended that I take Henry to a pediatric functional medicine physician to switch him off his prescription folic acid because it’s full of artificial coloring and other fillers.

All of this is so out of my comfort zone and so new to me! I’ve never know much about functional medicine. Here’s the definition:

Functional medicine addresses the underlying causes of disease, using a systems-oriented approach and engaging both patient and practioner in a therapeutic partnership…It addresses the whole person, not just an isolated set of symptoms…Functional medicine practitioners spend time with their patients, listening to their histories and looking at the interactions among genetic, environmental, and lifestyle factors that can influence long-term health and complex, chronic disease.

As I write all this, I'm metacognitive about how obsessive I sound in this quest to optimize our bodies and our lives. Maybe my "striving" is related to my MTHFR issues? Honestly, I'm perfectly content with the path we are on because I believe that our modern day food production system is pretty terrible and we aren't getting the nutrients we need. I believe our bodies are a system that need proper nutrients to function well. 

I look forward to getting my lab results back, taking some supplements, and making our diet as healthy as possible. 



Share |

5 comments:

Erin F said...

I was surprised to hear that they put your son on folic acid because one of the key issues with MTHFR, as you know, is an inability to process folic acid well. Certainly, a high dose would mean that more would be processed but I would hope that a functional medicine physician would recommend (methyl)folate, which is IS processable for those with MTHFR. This will be much less hard on his system and you might even see more behavioral improvement. I have a friend who has MTHFR and when she takes folic acid, she becomes EXTREMELEY anxious. Another friend with MTHFR sees many of her fibromyalgia symptoms lessen and/or disappear when taking methylfolate. Anywho, good luck and the journey. Working towards resolving genetic issues can be like magic, but also take some time and adjustment as all bodies and systems are different. All the best!

Sara E. Cotner said...

Sorry for the confusion, Erin! It is L-methofolate, so it's already broken down and is easier for his body to process.

Kelly said...

This is so interesting! I have a variant of MTHFR but I can't remember which one. I had to take lovenox shots during pregnancy but wasn't given any supplement or dietary suggestions. I'd be interested to hear who you're seeing if you feel like sharing offline.
I e been wanting to get Leo tested for food sensitivities for a while too.

Sara E. Cotner said...

Hi, Kelly! I'm seeing Dr. Alex at Nourish Medicine, which is located at none other than Casa de Luz! I did the food sensitivity at People's Pharmacy with Julia Strickland. Love her!

mamarunsmiles.com said...

Miss your life updates. Hope all is well!

Related Posts with Thumbnails