As most of you know, we've recently run Dr. Amy Yasko's genetics test for DS, and are following a lot of her protocol. It involves targeted supplements to support each of his genetic mutations (she tests for a bunch of different gene mutations related to the methylation cycle).
We have discovered a couple of really important things for DS that I hadn't figured out from all the work I did last year. One, he needs a ton of pancreatic support (which addresses digestion, vitamin D use, blood sugar regulation, general gut environment). Two, he needs ridiculous amounts of B12 compared to the normal person, and he needs it in non-methyl B12 form (mostly hydroxy, some adenosyl). Three, he had a lot of neurotransmitters out of balance, which can be a result of poor methylation due to mutations. He has some classic risk factors for ADHD, aggression, and anxiety, although at the moment we only see those if he is under severe stress (however, it's a good window on what he might have grown into). We are already starting to see the neurotransmitters balancing as we implement her protocol.
For anyone who has confusing health issues that don't seem to be addressed by a single answer (allergies, intolerances, metals, etc), I'd think it might be an interesting route to explore. I know it's expensive though, so I thought I'd lay out a few basic things that might be interesting to consider:
1) MTHFR & MTRR mutations. We've talked here quite a bit about the MTHFR mutations, which mean you can't use folic acid very well, and need folate and/or folinic acid. To me, if you aren't doing the genetics testing, it's pretty easy to just assume you could benefit from folate. I think most of us around here are doing that part. Ironically, this wasn't a mutation DS has. MTRR is the other big player in the methylation cycle, and it messes up your ability to recycle B12. Which means you need LOTS of B12, because you can't reuse it very well. There are some gentler MTRR mutations, and some tougher ones. DS has two of the tougher ones. Yasko says he'll need B12 via multiple routes (oral, sublingual, nasal, patch, injection). Right now we're just ramping up the sublingual drops/spray, we'll see where that gets us. But just as an indicator, he is currently on 8mg/day of hydroxy B12, 4mg/day of adenosyl B12, and that is probably not as high as she'll want him to be.
Guessing at diagnostics - for those of you with signs of poor methylation function (seasonal allergies, histamine reactions, get sick a lot), where folate doesn't have a big bang impact (or not enough), try a significant increase in your B12. It often causes detox initially, so go slow, and see how you feel after the few days of detox are over. DS detoxed each time we added a drop for the first 3-4, then I've been able to add without problem. Best evidence i have it's working is that he kicked his whooping cough in the butt - this is my kid who got the extreme version of every kind of sick.
2) Pancreatic support. There are several gene mutations that can play into this, but what happens is that your pancreas is "slow" on several functions:
a) blood sugar regulation (mood swings, crashes when you don't eat, etc)
b) pancreatic enzymes (poor digestion, sometimes in non-obvious ways - DS had low amino acids on a pee test, even though he eats lots of protein - I never guessed he wasn't digesting protein well, it wasn't obvious from his poop!). Poor digestion = bad gut flora, so many people find this is a core underlying cause in the inability to permanently improve their gut
c) glutamate -> GABA conversion. This is a big one for many autistic kids, because glutamates are excitatory (wild, unfocused, non-sleeping kids), and GABA is calming (focus, language, stability, better sleep)
I talked in the main chat thread about trying Yasko's special digestive enzyme blend as a good trial for if you need pancreatic support. If you discover those are beneficial, then extra vit D & K2, ground up pancreas, reducing glutamates and possibly supping GABA/valerian root could all be helpful in addition.
OK, got to stop for now, I'll add more as I have a chance/think of it!
We have discovered a couple of really important things for DS that I hadn't figured out from all the work I did last year. One, he needs a ton of pancreatic support (which addresses digestion, vitamin D use, blood sugar regulation, general gut environment). Two, he needs ridiculous amounts of B12 compared to the normal person, and he needs it in non-methyl B12 form (mostly hydroxy, some adenosyl). Three, he had a lot of neurotransmitters out of balance, which can be a result of poor methylation due to mutations. He has some classic risk factors for ADHD, aggression, and anxiety, although at the moment we only see those if he is under severe stress (however, it's a good window on what he might have grown into). We are already starting to see the neurotransmitters balancing as we implement her protocol.
For anyone who has confusing health issues that don't seem to be addressed by a single answer (allergies, intolerances, metals, etc), I'd think it might be an interesting route to explore. I know it's expensive though, so I thought I'd lay out a few basic things that might be interesting to consider:
1) MTHFR & MTRR mutations. We've talked here quite a bit about the MTHFR mutations, which mean you can't use folic acid very well, and need folate and/or folinic acid. To me, if you aren't doing the genetics testing, it's pretty easy to just assume you could benefit from folate. I think most of us around here are doing that part. Ironically, this wasn't a mutation DS has. MTRR is the other big player in the methylation cycle, and it messes up your ability to recycle B12. Which means you need LOTS of B12, because you can't reuse it very well. There are some gentler MTRR mutations, and some tougher ones. DS has two of the tougher ones. Yasko says he'll need B12 via multiple routes (oral, sublingual, nasal, patch, injection). Right now we're just ramping up the sublingual drops/spray, we'll see where that gets us. But just as an indicator, he is currently on 8mg/day of hydroxy B12, 4mg/day of adenosyl B12, and that is probably not as high as she'll want him to be.
Guessing at diagnostics - for those of you with signs of poor methylation function (seasonal allergies, histamine reactions, get sick a lot), where folate doesn't have a big bang impact (or not enough), try a significant increase in your B12. It often causes detox initially, so go slow, and see how you feel after the few days of detox are over. DS detoxed each time we added a drop for the first 3-4, then I've been able to add without problem. Best evidence i have it's working is that he kicked his whooping cough in the butt - this is my kid who got the extreme version of every kind of sick.
2) Pancreatic support. There are several gene mutations that can play into this, but what happens is that your pancreas is "slow" on several functions:
a) blood sugar regulation (mood swings, crashes when you don't eat, etc)
b) pancreatic enzymes (poor digestion, sometimes in non-obvious ways - DS had low amino acids on a pee test, even though he eats lots of protein - I never guessed he wasn't digesting protein well, it wasn't obvious from his poop!). Poor digestion = bad gut flora, so many people find this is a core underlying cause in the inability to permanently improve their gut
c) glutamate -> GABA conversion. This is a big one for many autistic kids, because glutamates are excitatory (wild, unfocused, non-sleeping kids), and GABA is calming (focus, language, stability, better sleep)
I talked in the main chat thread about trying Yasko's special digestive enzyme blend as a good trial for if you need pancreatic support. If you discover those are beneficial, then extra vit D & K2, ground up pancreas, reducing glutamates and possibly supping GABA/valerian root could all be helpful in addition.
OK, got to stop for now, I'll add more as I have a chance/think of it!
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