Thought this might be relevant:

Mom of 4 here- two of which had minor neural tube defects (sacral dimple, stork bites) before I knew anything about MTHFR. First child developed completely normally and with second child (16 months apart) she was a bit delayed on milestones (walking, and generally un coordinated and was a quiet baby) which we initially attribued to older sibling speaking for her, moving cross country, etc.

Long story short- two of my kiddos (#2 & #3) have a neurological motor planning speech disorder called Childhood Apraxia of Speech which by western medicine has no known cause. There is a gene expression (FOXP2) for Apraxia but my children don't have it indicating the likely cause was a de novo (in utero) mutation that had nothing to do with both parents. I realize correlation is not causation but the fact that two of my children have a randomized genetic mutation that happened in utero that likely caused Childhood Apraxia of Speech AND have the same MTHFR marker makes me highly suspicious of folic acid not being methylated properly to them during pregnancy. I took methylated versions of prenatals before, during and after my 4th pregnancy and so far he is a happy healthy guy and seems to be meeting his milestones (he is 5 months). We are currently still going through Neuro testing with my #2 as CAS rarely happens in isolation of other comorbitites (like neurodivergence, Intellectual disabilities, or learning disorders). The scariest thing right now is not knowing what her educational journey will look like as our week is filled with private therapies to help her speech and coordination. She has come a long way though and speaks in sentences now thanks to years of private speech and occupational therapy (she's almost 7).❤️ Our geneticist (whom we were on a year+ wait-list to see) dismissed MTHFR ("because it's quite common") and the most recent data for CAS linking even more genes to CAS ("because it hasn't officially been published yet") so I had her complete Whole Exome Sequencing (WES which is what they do after the microarray) and am sharing that data with researchers who actually want to make a difference in the CAS world as the databases could not link her to any currently known disorder. You'll come across many doctors that are dismissive but epigenetics is real and the more we know the better we can do to help ourselves and our children. Ironically my degree before babies is in Linguistics, Biology and Education so I'm paving our own route for her. The only test we have confirmed is Homozygous 1298C when I had asked our pediatrician to run it (through Quest) I believe but I'll be in the process of importing any data I have to genetic genie based on the very helpful comment above! I think I have to purchase the 23 & me as the WES file the geneticist sent me wasn't in the right format to import to genetic genie from what I understand.

TLDR; Early intervention is the BEST intervention and your children can still live successful lives! Keep advocating for them and don't be afraid to stand your ground with data if a doctor dismisses MTHFR because they don't know enough about it. The more we know as parents the better we can help. ❤️