Subacute Combined Degeneration

[oynk]

To make a long story, short: Approximately 11 years ago, my husband (now 42) began experiencing trigeminal neuralgia. Over the course of the next few years he had many other neuro. symptoms (gait problems, difficulty emptying bladder, tingles,  fatigue, difficulty grasping, etc.). He was diagnosed with possible MS, but no tests never confirmed this diagnosis. (MRI, spinal tap...).  After 4 years, we noticed alterations in his mental status as well (forgetfullness, irritability, depression..)  A neuropsych consult determined it was probably somatization, so he swore of doctors for the next 2 years as his symptoms continued to wax and wane. I finally dragged him back 5 years ago, with worsened symptoms, but essentially the same test results.  B12 was (and has always been)  in the normal range. This time they also tested for methylmalonic acid, which was through the roof. Diagnosis SCD. To this day, he takes B12 shots 2x a month, and various other meds for sympotamology.

Q: 1. Should his symptoms still wax and wane?  For example, he was able to go off the Cardura and void normaly for about a year, and then those problems returned and he had to go back on the meds. He is mostly oK with his meds, but he definitely goes through bad spells where he is excessively fatigued, or has problems walking.

2. After giving him the shots, they never retested the methymalonic acid. How do we know the shots are working?  Also, how do we know why it wasn't being metabolized correctly?  

3. Now,  MS is being raised again. At what point can they definitively rule out, or rule in MS?

Thanks

[CCF-Neuro-M.D.-JT]

1.Unfortunately, if B12 was truly the problem and he does indeed have subacute combined degeneration, then it's possible that he may be in that subgroup of patients who do not fully recover even after initiation of B12 treatment.  This may be manifested as "waxing and waning" with the establishment of a new baseline that is less than his normal level of functioning.  Another possibility is that there may be something else going on, something that's causing an overall degenerative process like a genetic syndrome or autoimmune disease.  However, this needs to be taken into clinical context and should be assessed by a neurologist who has personally examined him and reviewed his diagnostic studies and clinical history in detail.
2.It's certainly ok to retest the methymalonic acid, especially if his B12 has been normal throughout on routine laboratory testing, even when it was apparently insufficient.  ANother test that can be done is homocysteine levels.  To find out why he had a B12 deficiency state, his doctor may have to perform further testing such as a Schilling's test to look for abnormalities in the metabolic pathway of B12 from its oral administration  down through to the GI tract.
3.There is no test that can definitively say whether or not someone has MS short of an autopsy.  It's a clinical diagnosis based on the patient's history, exam findings and MRI results. If the MRI and spinal tap are persistently normal, showing no evidence of inflammation, then it's unlikely (but not altogether impossible as there are a small percentage of MS patients with normal looking MRIs) that he has MS.

COnsider seeing a neurologist at a major academic center for a second opinion.  Your husband's case sound complex, and he may benefit from seeing someone who will approach his case from a new angle or fresh perspective.  If MS is a strong consideration, then think about taking him to an MS specialist. Good luck.

[Ron3]

Hi Onyk,

Has Lyme disease been ruled out?
The symptoms you describe sure sound like it is a possibility.

If you live in deer country or if your husband has been camping or hunting in such areas, it must be considered.

Good Luck
Ron


Here are some links to explain it fully..

http://www.drmirkin.com/morehealth/g145.htm

http://www.drmirkin.com/morehealth/g138.htm

http://www.drmirkin.com/morehealth/8233.html

http://www.drmirkin.com/archive/6556.html

SYMPTOM CHECK LIST

                Unexplained fevers, sweats, chills, or flushing
                Unexplained weight change--loss or gain
                Fatigue, tiredness, poor stamina
                Unexplained hair loss
                Swollen glands
                Sore throat
                Testicular pain/pelvic pain
                Unexplained menstrual irregularity
                Unexplained milk production: breast pain
                Irritable bladder or bladder dysfunction
                Sexual dysfunction or loss of libido
                Upset stomach
                Change in bowel function-constipation, diarrhea
                Chest pain or rib soreness
                Shortness of breath, cough
                Heart palpitations, pulse skips, heart block
                Any history of a heart murmur or valve prolapse?
                Joint pain or swelling
                Stiffness of the joints, neck, or back
                Muscle pain or cramps
                Twitching of the face or other muscles
                Headache
                Neck creeks and cracks, neck stiffness, neck pain
                Tingling, numbness, burning or stabbing sensations, shooting pains
                Facial paralysis (Bell's Palsy)
                Eyes/Vision: double, blurry, increased floaters, light sensitivity
                Ears/Hearing: buzzing, ringing, ear pain, sound sensitivity
                lncreased motion sickness, vertigo, poor balance
                Lightheadedness, wooziness
                Tremor
                Confusion, difficulty in thinking
                Difficulty with concentration, reading
                Forgetfulness, poor short term memory
                Disorientation: getting lost, going to wrong places
                Difficulty with speech or writing
                Mood swings, irritability, depression
                Disturbed sleep-too much, too little, early awakening
                Exaggerated symptoms or worse hangover from alcohol
  

                Ticks can also transmit several serious co-infections:

                --Babesiosis is similar to malaria. It is caused by a protozoa that invades, infects and
                kills the red blood cells. Symptoms include chills, sweats, fatigue, headache, weakness,
                muscle aches and pains, dizziness and heart palpitations.

                --Ehrlichiosis is an infection caused by a rickettsiae (a bacterial parasite) that invades
                and infects the white blood cells. There are two types of Ehrlichiosis--HME and HGE.
                Symptoms include fever, malaise, headaches, chills, sweating, severe muscle aches and
                pains, nonproductive cough, abdominal pain, nausea, vomiting, and diarrhea.

                --Bartonella is also known as cat scratch fever and has recently been attributed to tick
                transmission

                Many people who have Lyme Disease have one or more of the co-infections. These
                illnesses are treatable with high-dose antibiotics. It is very important to see a
                knowledgeable doctor because many doctors do not understand these illnesses and treat
                them with outdated protocols. A bullseye rash is a definite sign of Lyme Disease, but
                only about 50% of people who have Lyme ever get a rash. If you get a rash, it is a good
                idea to photograph it for documentation. Place something near it, like a coin or ruler,
                before photographing to give it size definition. That way you have evidence of it if
                needed later. Here are a couple of sites where you can see some, not all, examples of
                Lyme rashes:
                http://www.lyme.org/gallery/rashes.html
                http://www.dis.strath.ac.uk/vie/LymeEU/images_medical.html
  

                The best defense against Lyme Disease and other tick-borne infections is prevention
                and education. There is a wonderful tick repellent you can buy for your clothing at
                Wal-Mart in the sporting goods section for about $5.00. It is called Repel Perma One.
                You spray your clothes and let them dry at least 2 hours before wearing (read the label
                entirely). If a tick even walks on them, it will die instantly. This is for your clothing
                only. It will last for up to two weeks or through five washings. You will still need a
                repellant for your skin. Research to determine which products are safe and best for
                children.

                Wearing light-colored clothing allows ticks to be seen easier. Realize that ticks can be
                as small as the period at the end of this sentence. Long sleeve shirts and long pants with
                clothes tucked in properly, reduce the amount of skin exposed. Also wear a hat. When
                coming inside after outdoor activity, remove your clothes promptly and wash and dry
                them at the hottest temperatures possible. Check for ticks on yourself, your children,
                and your pets--including under arms, behind knees, behind ears, on scalp, bellybutton
                etc.

                If you find a tick, the only safe way to remove it is with tweezers only. Bring tweezers
                as close to where it is attached to skin as possible, and grasp its mouthparts. Pull the
                tick straight back. Do not burn it with a match, do not put Vaseline or alcohol on it, and
                do not remove it with your fingers. Any of these methods will increase your risk of
                infection. Save it in a Ziploc bag, it can be tested for disease.

[oynk]

We initially brought up Lyme as a possibility and he has been tested several times.


Thanks for the info, though.

[Ron3]

Hi Oynk,

How long ago was the Lyme testing actually done?   Some have been tested 2 or 3 times before getting a positive result.

Blood tests for a hidden infection which finds elevated titres
for Sed Rate, C Reactive Protein, Antinuclear Antibody,
White Blood Cell Count and Rheumatoid Factor are enough to justify long term antibiotics until the titres return to normal.
If a GP is not doing the right tests, or doesn't believe that
there is something to find, there is less chance of finding
something wrong...

It might be time to get a referral to an "Infectious Disease Specialist" especially if things are continuing to worsen.

Did you visit those links I posted or just read the text?
(Dr Mirkin has been in practice for 40 years)

Take care...  Ron

[graham]

Hi Oynk, I'm sorry your husband was let down by his doctors for many years, and is suffering for it now.  You mentioned your husband's b12 level has always been in "in the normal range", but do you know what his results were.  Studies have shown, and it is well documented, that some people are effected well above the lower end of the so called "normal range"

It is likely that the laboratory level used by your doctor would show above 200pg/ml as being in the normal range (range probabley 200-900pg/ml in the US, even lower here in the UK) even though studies have indicated some people can be deficient, even to the extent of neurological symptoms, at levels well above 200.

Many doctors, those with expertise in this area, believe that the serum b12 test, on its own, is not a safe way of testing for b12 deficiency, I wished your doctors had known this and perhaps the Subacute Combined Degeneration of Spinal Cord could have been avoided.  The test shows the level of b12 in the blood, but the damage is done if it cannot be transferred to the tissues where it is used.  There is also analogue b12 in the food chain which shows up in the test, but is in fact useless b12 and in fact it can hinder the good b12 from being transported about the body.

Your husbands methylmalonic acid was, as you said, "through the roof" and this test is thought by many to be a much more sensitive way of indicating b12 deficiency (read Dr. Norman's information re this problem on www.b12.com).  Did they also check your husbands Serum Homocysteine level which is another indicator of deficiency. Checks for Intrinsic Factor Antibodies and  Parietal Cell Antibodies may also have been helpful early on, I wonder if these were done.

With the treatment of b12 it is very likely that his Methymnalonic Acid level will have normalised, that is why it is important to have that test done before b12 treatment begins. I think they should be checking his serum b12 levels fairly regularly to ensure his levels have improved significantly from his earlier levels, whatever they were.

The only other thing I can add is that having read about the recovery of individuals who were diagnosed at a late stage, it seems that recovery can be a bit up and down as the body tries to repair the damage done.  Obviously the longer it goes unidentified the more damage is caused, and any recovery which is still possible can take longer.

There is a great deal of information about this topic, and yet so many doctors are unaware of the serious problems it can cause at levels quoted as "a grey area" or in the "low normal level"

I am not saying there may not be other problems going on with your husband, but it is possible for this condition to cause all the symptoms you mention

Good luck to both you and your husband
Graham

[oynk]

I believe the last time he was tested was several years ago. He's been tested around 4 times. (At our insistence).  When this first began, and I brought up Lyme as a possibility, I couldn't even get anyone to test for it (since we were not then thought to be in a Lyme infected region). We did have some suspicion of Lyme, but none of the tests have borne it out. (I'm no longer up to date, but at the time, I did insist that they do the more thorough testing, as I know there were a lot of false positives and false negatives.)

I do appreciate your advice. I didn't recheck the links just now, but I promise you I took (and still take) Lyme disease very seriously.  (I also listen to Dr. Mirkin).

Thanks again, and keep warning people. I'm sure you have helped a lot.

Jeanne

[oynk]

Thanks for the info.  I now know that his B12 was always in the borderline normal range. (I don't have the numbers in front of me, but it was really not even that close to what was considered low at the time).  I wish I had a better understanding of what you are explaining, as I think it is very important.  I don't really understand how the B12 level in his blood can be "OK" but it isn't transferred to the tissue.  If this is the case (as I know it is), then how do the shots help?  Wouldn't his B12 levels in his blood be evelated due to the shots, but possibliy still not be being metabolized correctly.  We never even ever found out *why* his B12 levels would be OK according to the blood tests, but obviously there is some kind of problem.  If it's not dietary, then what is it?  I would guess that if someone was lacking in the intrinsic factor, this would have been a problem for his entire lifetime....

They did not ever test the Serum Homocystein level. (I did ask). It was kind of like, "ah ha, we've found the problem. Take some shots and you'll be fine."  They have never rechecked the B12 levels or the methyamalonic acid levels. It has been several years.  Again, I wonder how else they would know if this was working.  He has a new doctor, who is rerunning a lot of tests, so I am hoping maybe we will get some more info.

Thank you for your comments.  After so many years, I'd hate to think that there was still more going on, and we ignored it. Unfortunately, once he began to have mental deterioration, it was dismissed as a "psychological" problem, while of course, that is a hallmark of B12 deficiency (that has been allowed to progress way to far). He continues to have, however, a concern about appearing to be somatisizng, so he is very reluctant to seek further treatment, or complain.

Thanks again,

Jeane

[graham]

Hi Jeane, I know the b12 issue can be quite difficult to understand. I am no expert but I will try and use what understanding I have to answer your questions as best I can.

The serum b12 test shows the level of b12 in the blood, and that can indicate a level of deficiency. However it is possible to have sufficient b12 in the blood to be above the low/mormal level whilst the tissues in the body are deficient of b12. The b12 is absorbed into the tissues in an area of the small insestine called the terminal ileum. The b12 has to be transported there and intrinsic factor is the substance you require to do this. Therefore if you have pernicious anaemia, which means you do not produce suficient IF then you cannot transport b12 to the areas where the tissues can use it. The b12 shots bypass the need for it to be absorbed in the ileum.

In answer to your question, no it does not mean you would always have been deficient of IF, it is a condition which develops over time.

There are other reasons for failure to absorb b12 such as lack of stomach acid, many people who have stomach problems are on acid blocker drugs, I have seen it commented that this can cause deficiency problems.  There are lots of other reasons for developing deficiency such as Crohn's disease, Celiac disease, pancriatic insufficiency, intestinal parasites and yes you are right, they should definately have wanted to know why he had developed this condition.

They should be checking his serum b12 level to see if it has risen significantly from the level it was.  From what I have read after b12 shots his methylmalonic acid will normalise and then cannot be used as an indicator.

If you want to know more, I would check out the Braintalk site (braintalk.org) and check on the Peripheral Neuropathy forum. There is a great deal of very valuable information and if you wish you could direct a question at Rose who is has great expertise on the subject.

Let us know how you get on.

Best of luck
Graham

[oynk]

Thanks for your answer. (I don't know if you guys read responses).  This pretty much confirms what I've thought.  

Question regarding your last statement. I'd love for him to see a neurologist at a major academic center.  How does one go about doing this?  

Since he is considered mostly "stable," medication management has been turned over to his primary care physician. The last time he took a pretty bad turn for the worse, he needed a referral and it took several months to even be able to see any neurologist!!   (We live in a rural area, and few specialists stay around. It seems like every few years, his neurologist moves and he needs to be seen by someone new, who starts over from scratch).  

Thanks again.

[Ron3]

Hi Oynk,

I hope that you are able to get the medical records {which are actually the patient's) which can save the new doc repeating
a lot of work and will also allow symptom comparison as the years go by.

A referral to a major center is the best way.  A phone call to such a center to speak to someone who could tell you who to contact and how long a wait might be needed, is also worthwhile.
A neurologist might be a good idea, but an infectious disease doc
might be easier to arrange.  If it is not infectious, you will
get referred.
(Anything to get your foot inside the door.)

Good luck
Ron