Initially we did the test for Ellie and myself. I tested positive for one mutation, and she tested positive for the other. Later, we tested my husband and he was positive for Ellie's, which means he passed it on to her. Now I know who to blame ;)
My mutation is quite minor, but hers can be more serious. The testing results showed that her enzymatic activity is only 60% of a normal person. What does that all mean? It took me a lot of reading and absorbing to sort out not just the basic science of it, but also, what this means specifically for Ellie.
We all have an MTHFR gene. If it is mutated, then its ability to produce the MTHFR enzyme is reduced. The enzyme plays a key role in detoxifying the body of heavy metals, toxins and more. So, essentially, an impaired MTHFR gene is an impaired detox system. This article helps to explain the cascade of effects an impaired MTHFR gene can trigger ... the defective enzyme can't break down folate properly, which in turn means the body can have high levels of homocysteine, then the homocysteine is poorly converted to glutathione (which detoxifies the body) along with less production of methionine, leading the body to produce less SAM-e. SAM-e is involved in methyl group transfers and supports the body's ability to process and produce hormones. Honestly, most of this is waaaaay over my head and makes me wish I had majored in biology or chemistry instead of journalism.
Every hiccough in that cascade of critical processes invites trouble. Individuals with an MTHFR mutation are more susceptible to a host of health problems ranging from depression to autism to miscarriages to heart disease to cancer. Scary stuff.
So we worked with our nutritionist and started Ellie on some supplements to help support her body's ability to detoxify. We started her on methylated folate. Because individuals with the MTHFR mutation struggle with methlyating, or breaking down, the folate in their supplements and food, this supplement essentially skips that step, and provides the folate the body needs. Folate helps the body synthesize and repair DNA, which would be important if you have a genetic mutation!
We also started her on a B Vitamin complex, since B vitamins are critical in supporting the body's detox pathways.
So how does all of this relate to food sensitivities? Ellie is highly sensitive to salicylates. Salicylates are a natural chemical found in foods - they serve as nature's preservative and protect the plants from disease, pests and fungus. Salyicilates are also found in personal care products and medications, like aspirin. Ellie's body treats salicylates like a toxin, and she cannot efficiently process toxins out of her body. So the fact that she a) has a sensitivity to a food chemical that is very difficult to avoid and b) has a genetic mutation that makes it difficult for her body to move those chemicals out of her system, means that the salicylates build up in her body and cause symptoms.
A few weeks later I started digging deep on the connection between MTHFR and individuals with mast cell issues. Ellie has not been officially diagnosed with a mast cell disorder, but many of her symptoms are in line with a condition like mastocytosis, so I was researching that connection. (Ellie was in fact incorrectly diagnosed with mastocytosis this summer, when her allergist mis-read her test results, but that's another post for another day).
When a person with allergies is exposed to something they are allergic to, their mast cells release histamine and cytokines in an event called mast cell degranulation. Symptoms can vary quite a bit, the worst of which being anaphalaxis, which thankfully Ellie has never experienced. Ellie will most commonly experience tummy aches, flushing and hyperactivity.
Anyway! There does seem to be some connection between MTHFR and overactive mast cells. Here is a helpful article I found and the quote that stood out to me:
MTHFR Polymorphism may be a predisposing factor to mast cell disease. 5-MTHF regulates biosynthesis of BH4. The A1298 mutation in the MTHFR enzyme effects the conversion of BH2 to BH4. Less amounts of BH4 inhibits NO formation resulting in increased mast cell degranulation. Inadequate BH4 formation also puts a strain on the conversion of tryptophan to serotonin and tyrosine to dopamine, leading to low levels of the neurotransmitters: dopamine, norepinephrine, serotonin and melatonin.
Low blood serotonin levels help define a sub-group of patients with mastocytosis that are more likely to present with neurological and gastrointestinal complaints. Human mast cells can express and be activated through multiple serotonin receptors, and synthesize and release serotonin. Low blood serotonin levels in such patients may be the result of low BH4 levels due to 5-MTHF deficiency, the result of long-term malabsorption from chronic inflammation of the gastrointestinal tract or both, as is the case with me.
BH4 is a critical factor in cellular activities such as cell proliferation, cell cycle regulation and differentiation. Could BH4 deficiency secondary to MTHFR polymorphism be one of the fundamental mechanisms that underlie mast cell proliferation?
What stood out to me the most here is that there is a sub-group of people with mastocytosis who specifically present with neurological and gastrointestinal symptoms, and that that can be related to low serotonin levels. And what can cause low serotonin levels? An MTHFR mutation. It was so intriguing to me to think that by supporting Ellie's serotonin levels of all things, that we could be supporting her tummy and get rid of her tummy aches. Fascinating.
I did some research into supplementing with BH4 and it turns out to be INSANELY expensive and quite hard to get your hands on. Essentially, BH4 is a critical co-factor in the body's production of serotonin along with melatonin, dopamine, and adrenaline. Thankfully there's another, much more common, supplement that does similar work in the body. The supplement 5-HTP is an amino acid that supports the body's synthesis of serotonin and melatonin from tryptophan.
We started Ellie on the 5-HTP and saw a massive change in her almost immediately. The biggest immediate difference we noticed was that she had a much easier time going to bed. Ellie's always been one of those kids who fought bedtime tooth and nail, and suddenly she was going to sleep right away, rather than popping out for one more thing a hundred times. Then we noticed that Ellie was becoming much more flexible. She didn't need things to be "just so" quite as often, she was open to adjusting plans and expectations gracefully. And she hasn't had a tummy ache in months.
Recently we ran out of methylated folate and were out of it for about two weeks. I saw the progress we had made with Ellie's health slowly regress. She was more hyperactive, more anxious and just "off" in that way that mamas can be tuned into. One afternoon I gave her grapes for a snack (grapes are very high in salycilates) and after she ate she said "bippity boppity boo" for 30 minutes straight. She could not stop. It has taken me a long time to realize that for Ellie hyperactive talking and repetitive talking is a symptom for her that something's off.
Ellie takes two prescription drugs for her to be able to eat a fairly varied diet. Cromolyn and ketotifen mediate allergic responses that occur in the gut. Even though these are very safe drugs, I still don't love the idea of her needing to take prescription drugs to eat food for the rest of her life. So I'm still on the hunt to figure out how to help support her body to work at its best with the hope that someday we can get her of these prescription drugs.
It's hard to say whether the methylated folate, the B vitamins or the 5-HTP was the critical change that helped Ellie feel so much better. And I'm not sure it's important to parse out which supplement made the massive change. All I care about is that what we're doing is working. Every day, every week, every month, every year, I get a little bit closer to figuring her out.
Want to learn more? This site is the best resource online for MTHFR: http://mthfr.net/.