And we have a diagnoses....well almost

As those of you who know me are aware I have struggled with feeling sick for quite a few years. Over time I have experienced many tests, food trials, and other ordeals as the doctors try to diagnose me. It seems that the problems come from a plethora of areas rather than one specifically and this has made nailing down a diagnoses difficult. Over the years they have confirmed that I have ovarian cysts which are influenced by high levels of hormone, and some type of bowel issue although they have not been able to identify exactly which one. It's been a frustrating journey for me, especially in recent months as I've felt even more sick and found it interfering with my mothering.

Yesterday I was given at least something more to go on. After another round of tests they've discovered that I have quite a major vitamin B12 deficiency. Although they know this has caused a lot of the symptoms and they will be following through with treatment, we still don't know the exact CAUSE of the deficiency. But at least we are a little bit closer to closing this case up.

Here is what I have learned so far about my B12 deficiency:

Vitamin B12 helps maintain healthy nerve cells and red blood cells [1-4]. It is also needed to help make DNA, the genetic material in all cells. Vitamin B12 is also called cobalamin because it contains the metal cobalt [1-4].Vitamin B12 is bound to the protein in food. Hydrochloric acid in the stomach releases vitamin B12 from proteins in foods during digestion. Once released, vitamin B12 combines with a substance called intrinsic factor (IF). This complex can then be absorbed by the intestinal tract.

Having vitamin B12 deficiency means that your body does not have enough of this vitamin. You need B12 to make red blood cells , which carry oxygen through your body. Not having enough B12 can lead to anemia, which means your body does not have enough red blood cells to do the job. This can make you feel weak and tired.

As a general rule, most individuals who develop a vitamin B12 deficiency have an underlying stomach or intestinal disorder that limits the absorption of vitamin B12 [10]. Sometimes the only symptom of these intestinal disorders is subtly reduced cognitive function resulting from early vitamin B12 deficiency. Anemia and dementia follow later [1,11]. Vitamin B12 deficiency anemia usually happens when the digestive system is not able to absorb the vitamin. This can happen if:

You have pernicious anemia. In this anemia, your body destroys the cells in your stomach that help you absorb vitamin B12.Pernicious anemia is the name given more than a century ago to describe the then-fatal vitamin B12 deficiency anemia that results from severe gastric atrophy, a condition that prevents gastric cells from secreting intrinsic factor. Intrinsic factor is a substance normally present in the stomach. Vitamin B12 must bind with intrinsic factor before it can be absorbed and used by your body [7,17-18]. An absence of intrinsic factor prevents normal absorption of vitamin B12 and results in pernicious anemia. True PA is probably an autoimmune disease. The immune system destroys cells in the stomach that secrete intrinsic factor. Many people with PA have both chronic inflammation of the stomach lining, called atrophic gastritis, and antibodies that fight their intrinsic factor-secreting cells.1 Most individuals with pernicious anemia need parenteral (deep subcutaneous) injections (shots) of vitamin B12 as initial therapy to replenish depleted body stores of vitamin B12. Vitamin B12 body stores can then be managed by a daily oral supplement of vitamin B12. A physician will manage the treatment required to maintain the vitamin B12 status of individuals with pernicious anemia.

You have problems with the way your body digests food, such as sprue (also called celiac disease), Crohn's disease, bacteria growth in the small intestine, or a parasite. Sprue, often referred to as celiac disease (CD), is a genetic disorder. People with CD are intolerant to a protein called gluten. In CD, gluten can trigger damage to the small intestines, where most nutrient absorption occurs. People with CD often experience nutrient malabsorption. They must follow a gluten-free diet to avoid malabsorption and other symptoms of CD. (I have been repeatedly tested for this and this at least is not the case in my situation). Crohn's disease is an inflammatory bowel disease that affects the small intestines. People with Crohn's disease often experience diarrhea and nutrient malabsorption.

As the anemia gets worse, you may:
Weakness and fatigue/tiredness
Lightheadedness and dizziness
Palpitations and rapid heartbeat/pulse
Shortness of breath
Bleeding gums and mouth sores
A sore tongue that has a red, beefy appearance
Nausea or poor appetite
Weight loss
Diarrhea
Yellowish tinge to the skin and eyes
Have pale skin.
Feel sick to your stomach

If the level of vitamin B12 stays low for a long time, it can damage your nerve cells. If this happens, you may have:
Numbness or tingling in your fingers and toes.
A poor sense of balance.
Depression.
Dementia,
a loss of mental abilities.

Treatment is usually regular shots of vitamin B12 in the arm or another muscle. You may get a shot every day for 1 week, then once a week for a month, and then once every month. You can learn to give yourself shots or have a family member learn how to do it. (This is the treatment I will be following as well as a very high daily oral dose of the vitamin)

Most people who get this anemia need to take pills or shots for the rest of their lives.

Laboratory tests will include:
Standard blood tests to measure the level of red blood cells and check their appearance — In vitamin B12 deficiency, red blood cells are unusually large and have an abnormal appearance.
Blood tests to measure B12 levels — Levels of iron and folate also may be measured to check for deficiencies in these nutrients.
Blood test to measure methylmalonic acid level — The blood level of methylmalonic acid increases when a person has B12 deficiency.
Blood tests for intrinsic factor (IF) antibody and parietal cell antibody levels — If B12 and methylmalonic acid levels are low, your doctor may order special tests for antibody levels to determine if you have pernicious anemia. Most people who lack IF in their stomach have these antibodies in their blood.
Bone-marrow biopsy — Occasionally, a bone-marrow biopsy is performed to help confirm the diagnosis. In this procedure, a small sample of bone marrow is taken by inserting a needle into the pelvic bone just below the waist on either side of the spine. The bone-marrow sample is examined in a laboratory to help rule out other causes of anemia and red-cell abnormalities.

With proper treatment, symptoms of vitamin B12 deficiency begin to improve within a few days. In vegans and other people whose B12 deficiency is diet-related (this is very rare), oral B12 supplements and a diet designed to increase consumption of vitamin B12 should cure the condition. People with pernicious anemia or people who cannot absorb vitamin B12 from their intestines will need injections of vitamin B12 every one to three months indefinitely.
Prognosis is excellent because this form of anemia responds well to treatment. However, it is possible that nerve-cell damage will not improve. Some residual damage to the nervous system may remain in people who sought treatment late in the illness.


(Information on vitamin B12 deficiency is not my own words, it is exerpts from medical reports given to me).