Diagnosis problems

[Hopefulandpositive]

Hello, I am a twin whose twin was treated for PA. My twin recovered successfully after months of injections. Doctors dismissed this important family medical history and tested me for everything. All tests for neurological/muscular disease were negative. Finally (after weeks) they checked my B12 blood serum and blood MMA. All negative. I really want a positive test to use to show my family we have this in our history. I believe my grandfather died from PA. He suffered from MS like symptoms and severe vertigo but doctors never diagnosed him. Anyone else have the symptoms (including neurological symptoms) and only negative test results for B12 deficiency? I have been suffering with neurological symptoms for three months. Started my own Methylcobalamin injections and have improved greatly in the last three weeks. Its obvious to me I have PA. Did it take anyone else out there a long time to get a test result that convinced doctors you have PA? Thank you

[clivealive Forum Support]

Hi Hopefulandpositive in amongst your "B12 blood serum and blood MMA" tests do you know if your Intrinsic Factor was checked for antibodies?

I was 13 years between gastric surgery at the age of seventeen in 1959 until I finally got a diagnosis of P.A. in 1972 after two "Schilling's" tests, by which time I was a "walking Zombie".

[Gambit62 Administrator]

what exactly were the results for serum B12? problem may be in interpreting results rather than with the tests - though not having raised MMA would point to your cells having enough b12 to deal with that particular problem.

Would also help to know what country you are in as treatment protocols vary considerably from one country to another. If your sister was based in another country at the time of diagnosis then that may also be a differentiating factor.

[Sleepybunny]

Hi

In UK, it's recognised in the "BSH Cobalamin and Folate Guidelines" that it is possible to have Antibody Negative Pernicious Anaemia (PA where Intrinsic factor Antibody test has a negative result).

b-s-h.org.uk/guidelines/gui...

Flowchart from BSH Cobalamin and Folate Guidelines

stichtingb12tekort.nl/weten...

I'm not sure if Antibody Negative PA is recognised in other countries.

PAS (Pernicious Anaemia Society)

pernicious-anaemia-society....

PAS tel no [phone] answerphone available

PAS is based in Wales, UK but has members from around the world.

B12 books

"What You Need to Know About Pernicious Anaemia and Vitamin B12 Deficiency" by Martyn Hooper

Martyn Hooper is the chair of PAs (Pernicious Anaemia Society). Book is up to date with UK B12 guidelines.

"Living with Pernicious Anaemia and Vitamin B12 Deficiency" by Martyn Hooper

Has several case studies.

"Could it Be B12; An Epidemic of Misdiagnoses" by Sally Pacholok and JJ. Stuart (USA authors)

Very comprehensive book about B12 deficiency with lots of case studies.

If you are identical twins then I'm surprised that doctors are not taking more notice of your twin's diagnosis.

Even if you're not identical, having a blood relative with PA is a risk factor for developing it.

Risk factors for PA and B12 deficiency

pernicious-anaemia-society....

b12deficiency.info/what-are...

b12deficiency.info/who-is-a...

Blood tests

b12deficiency.info/b12-test...

b12deficiency.info/what-to-...

patient.info/doctor/macrocy...

labtestsonline.org.uk/under...

patient.info/doctor/folate-...

You mention supplementing with methylcobalamin. Supplementing with B12 before a diagnosis can make getting a diagnosis more difficult.

It may be a long slow process of gathering evidence.

B12 Deficiency Symptoms Lists

pernicious-anaemia-society.... Gave a copy of PAS list to my GPs with all my symptoms ticked.

b12deficiency.info/signs-an...

b12d.org/admin/healthcheck/...

More B12 info

I agree with Gambit62 that it's helpful to know which country you are in. I'm in UK.

Lots of B12 info in pinned posts on this forum.

I am not medically trained just someone who has struggled to get a diagnosis.

[Cherylclaire Forum Support]

You mentioned that your twin recovered from PA after months of injections- does this mean that she is no longer being treated ? I could be misunderstanding what you said there, but a Pernicious Anaemia diagnosis means injections for life.

Sleepybunny is right about supplementing with B12 skewing any later test results, so you need to weigh that up carefully. It's a difficult decision. Get specific results (and ranges if possible) - there are some very knowledgeable and supportive people here that can help you work out your next step, or at least your options and priorities. Best of luck, stay Hopefulandpositive

[Hopefulandpositive]

Thank you so much for all your replies. I live in the US. My sister is my identical twin. My twin was treated for her MS like symptoms with B12 injections and still supplements. I don't think she injects anymore. She lives on the west coast and I live in the South. So I don't know all the details of her diagnosis, and unfortunately shes not the best communicator. But I do know she recovered from symptoms like mine four years ago. She had muscle issues , pins and needles feeling, cognitive failure and vision disturbances. I don't think she was told she had pernicious anemia but was treated like she has it with B12 injections. At this point I am recovering and have no desire to stop injections for the sake of a test result. But it is frustrating. I have not had a intrinsic factor test yet. Only MMA blood test and B12 Blood serum. My blood serum was over 1500 the first time they checked but a kind blood doctor encouraged me to take a B complex incase I was missing another B. A month after taking liquid B complex I was still sick and my B12 blood serum was 800. It dropped while I was supplementing. I felt worse and developed weird bugs crawling on my skin sensations. I was dizzy , weak and had severe muscle cramps and spasms. I had severe fatigue and terrible internal tremors. I felt I would die if I didnt take matters into my own hands. I can self inject and have recovered from 60 percent of my symptoms in just 9 injections. But I did have about 20 symptoms. I went from being in a wheel chair barely able to walk to now being able to drive a lil. There is no question the injections are improving my condition. I just wish there was one reliable test I could take for my family history's sake. But at the same time I am just happy I am starting to get my life back. I am not sure I have the strength just now to keep chasing this with more test. And especially if more end up negative. I have a hematologist appointment in three months. I am just thankful I can treat myself with out a doctor. Thank you for your comments.