Follow up after no improvement

Hello,

Thank you all so much for sharing information to help sort a very confusing condition.

I was diagnosed with pernicious anemia in July due to IF Antibody and homozygous MTHFR mutation after seeing the dr for bruising, confusion, and balance concerns. Testing showed elevated homocysteine, RDW, eosinophils, and methymalonic acid with low B12, WBC, and neutrophils.

I have been prescribed B12 monthly injections after the loading doses since August. I have self injected every other week because the symptoms get so bad I cannot function. I have been self injecting but don't think I always get the muscle only because it is difficult to get to the muscle in my thigh

My homocysteine level is back to normal and my B12 is now at the high level of normal limits (both had been low). A recent CBC is showing low WBC, high RWD, low neutrophils ABS and %, and high eosinophils ABS and %.

My symptoms have not gone away so I made an appointment at a teaching hospital with a hematologist. I am hoping they are knowledgeable about PA.

I have two adult daughters who are showing the same symptoms especially fainting, weakness, fatigue, and numb hands. My mother was diagnosed with Alzheimer’s Disease at age 70. She is not 75 and in good health other than cognition. I have two sisters ages 50 and 53 who also exhibit mental confusion, one sister asked for the MTHFR genetics test and B12 lab. She had two mutations with the MTHFR gene and low/normal B12. The doctor told her she was fine and provided no treatment.

I have a lot of questions! and listed them below. Once again thank you for any help.

Can you share any advice for guidance with figuring out what is going with my health, how to best treat my symptoms, and the best course of action to take with family members showing some of the same symptoms?

Do I need to see a physician geneticist and or a neurologist as well as a hematologist?

Does it make a difference if I am not injecting into the muscle?

I am also confused about the MTHFR mutation should my children be tested? Do I need something more than the B12? My doctor never mentioned a folic acid supplement should I be taking a multivitamin?

I am in located the US and can go to a couple of big cities for treatment if anyone has and doctor/hospital recommendations. I have access to Dallas, or Houston, Texas or Chicago, Illinois, or Madison, Wisconsin

Thank you for any help.

Kathy

4 Replies

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  • MTHFR actually affects processing of folate/folic acid more than it affects B12 so would suggest that you look into that. It can affect B12 but to a lesser extent. The tendency is to push methylated forms of both folate and B12 onto anyone with MTHFR but results with methylated forms can be mixed.

    Galixie I'm rather bad at remembering who is from the US - know you are - can you help with recommendations etc from a US perspective or point in the direction of others who might be able to help.

    There are also support groups for the PAS based in the US - not sure if one in the areas you mention but it might be worth looking into that and joinng

    pernicious-anaemia-society....

  • My doctor prescribed Cyanocobalamin injections. Would those injections include the necessary folate/folic acid?

    Thank you,

    Kathy

  • you can get injections of cobalamins that include folic acid but most don't, so it is unlikely that the injections include folic acid - suggest you speak to your doctor.

  • Sorry I can't be much help with recommending any doctors in the US. My luck with finding good ones has been fairly spotty. I've had better luck with naturopaths than regular doctors, actually. Although I've found that naturopaths all seem to be highly in favor of the methylcobalamin form over either cyano or hydroxo. That's great if that's the form that works best for you and not so great if you do better on one of the other forms.

    I do know that, even if you miss the muscle, the injection should still benefit you. So no worries there.

    I agree with Gambit that looking into your folate level would be a good idea. It's almost certain that the cyano injections you're getting do not contain folic acid, and you might have become low in it since starting to receive injections.

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