Special Needs

MTHFR questions (stroke, autism??)

I just found out that my (half-)sister tested positive for a double mutation of MTHFR which means she inherited one copy from my father. She had testing done because her mom had a stroke about a year or more ago. My father had one a few years ago before the onset of his MS. Her mother's stroke was apparently tied to this mutation so that is why she was tested. She is encouraging me to get tested because her doctor believes this gene mutation is perhaps what caused my father's stroke and my brother's fatal stroke. My brother had high blood pressure since the age of 21 and that was ruled as the cause of his death basically. She also told me she is getting my nephew tested because of his PDD diagnosis. She said her doctor said this gene mutation is linked to autism. (Isn't everything?) Anyway, I can't really find very much information on this gene's relation to stroke and/or autism so I just wanted to see if anyone else might have an good links. I know that I have seen MTHFR mentioned many times in regards to miscarriage but not so much in regards to stroke. Thanks!
DD(14),SD(13),SS(11),SS(9),DS(3)

Re: MTHFR questions (stroke, autism??)

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  • I'm lurking but my DS was dx w/ high functioning autism. Ben Lynch also has some great info on linking MTHFR & autism. Check him out on fb.
    ~Jess & Mike May 12, 2007
    12.6.07 CP at 5w
    5.21.08 BO discovered at 7w, D&E at 8w3d
    8.31.08 CP at 4w5d
    BFP Sept 25, 2008 bfp buddy lkstor Landon born June 6, 2009
    3.25.11 missed m/c discovered at 9w6d, D&E at 10w2d
    4.28.11 MTHFR a1298c homozygous discovered
    4.2011 Began NaProTechnology
    10.12.11 Diagnosed with Type III Luteal Phase Defect
    10.2011 Starting hcg injections on 5, 7 & 9 dpo
    BFP 12.7.11 - EDD 8.14.12 - IT'S A BOY! Fruit Baby
    Life During and After RPL
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  • I have 2 copies of the a1298c, DD1, DD2 & DH all are compound heterozygous (1 of a1298c and 1 of the c677t).  I had the MTHFR testing after Peyton's birth complications when we were trying to find answers, it was part of a full clotting workup.  P had a stroke due to a placental abruption.  I was taking 5mg of folic acid 1 year prior to conception because I have classic migraines so the OB recommended a high dose.  My homocysteine levels were also normal.  I can't take hormonal bcp without getting classic migraines (aura, numbness, puking, etc).  I took lovenox with DD2 and had a 50% functional placenta with blood pools which ended up all infarcting and calcifying over.  She had IUGR and was born early.

    I don't know what the link is with the MTHFR and strokes, etc because so many people really do have the mutation, and some doctors don't even 'believe' that MTHFR is even a "thing" 

    That being said neither of the girls thus far have any signs of autism.  They have some emotional/behavioral issues but P's are due to the location of her stroke, etc.

    Good luck..
    DD1(4):VSD & PFO (Closed!), Prenatal stroke, Mild CP, Delayed pyloric opening/reflux, Brachycephaly & Plagiocephaly, Sacral lipoma, Tethered spinal cord, Compound heterozygous MTHFR, Neurogenic bladder, Urinary retention & dyssynergia, incomplete emptying, enlarged Bladder with Poor Muscle Tone, EDS-Type 3. Mito-Disorder has been mentioned

    DD2(2.5): Late term premie due to PTL, low fluid & IUGR, Reflux, delayed visual maturation, compound heteroygous MTHFR, PFAPA, Bilateral kidney reflux, Transient hypogammaglobulinemia, EDS-Type 3


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