This month, we are delighted to feature a blog authored by Julie Wichlin, our dedicated US Support Group coordinator based in Chicago. Within the narrative, Julie intimately shares her personal journey, shedding light on the knowledge gaps existing between patients, medical practitioners, and researchers. Despite her role as an engaged strategic nonprofit consultant and executive leader, coupled with a commitment to personal growth in health and wellness, Julie passionately dedicates time to facilitate an online support group in the US. This community serves as a secure haven for individuals, whether formally diagnosed with Pernicious Anemia or not, fostering open discussions about their unique experiences and journeys. Participants benefit from Julie’s expertise, gaining valuable support and accurate information crucial for constructive dialogues with their doctors, families, and employers. Julie’s gatherings offer a blend of informal conversations and insightful guest speakers. Much like many of our members, Julie’s triumph in achieving a diagnosis and effective treatment stems from her unwavering determination to address the debilitating symptoms of this autoimmune condition, aspiring to go beyond mere functionality.
My personal odyssey with Pernicious Anemia began five decades ago, marked by chronic stomachaches, sore throats, and an ever-present fatigue that accompanied my formative years. Strange rashes appeared intermittently, leaving both my parents and doctors puzzled, and I seemingly caught every bug circulating.
Beyond the common childhood maladies, my health was a tapestry of oddities. I had strange spots on my tongue, developed low platelets, and parts of my body would inexplicably go numb. As if this wasn’t enough, bouts of shortness of breath, dizziness, urinary issues, blurred vision, and difficulty swallowing added layers to my medical mystery. My back, legs, and hips ached, and I developed hair loss, burning feet, headaches and PVCs, an irregular heart rhythm.
Decades of doctor visits unfolded like the turning pages of a bewildering novel. Multiple primary care physicians, dermatologists, endocrinologists, rheumatologists, neurologists, urologists, nephrologists, chiropractors, physical therapists, hematologists, gastroenterologists, ear, nose, and throat specialists, and even psychologists became part of my narrative. Each chapter brought with it hope, followed by the disappointment of unanswered questions. Multiple unnecessary surgeries, including the removal of my gall bladder, added to the frustration.
Throughout these years, I had implored my primary care physician, a sharp and compassionate young doctor, to explore the possibility of Pernicious Anemia. My grandmother had suffered from it, and the parallels were too striking to ignore. Despite my family history, the only related testing my doctor agreed to was serum B12, consistently registering normal or high values due to my years of B12 supplementation. Confidence in my doctor’s ability to help waned, and it became evident that the help I needed was beyond her reach.
Convinced I was dying, I took matters into my own hands and referred myself to an integrative clinic, a lifeline in my desperate plea for help. Fortunately, an astute Physician’s Assistant at the clinic ordered an Intrinsic Factor Antibody test, a pivotal moment in my journey. A positive test confirmed the diagnosis that had eluded me for so long – Pernicious Anemia.
My path to diagnosis was not unique. While serum vitamin B12 levels are commonly measured as the gold standard to assess vitamin B12 status, they may not always provide a complete picture, especially in the context of Pernicious Anemia. Several factors contribute to the limitations of relying solely on serum B12 levels for diagnosing PA:
1. Functional B12 Deficiency: Individuals with Pernicious Anemia may have normal or high serum B12 levels, but they still experience a functional deficiency. This occurs because they lack intrinsic factor, a protein produced by the stomach lining that is essential for the absorption of vitamin B12. Even though there may be sufficient B12 in the blood, it may not be effectively utilized at the cellular level.
2. Holotranscobalamin (holoTC) Levels: Holotranscobalamin is the active form of vitamin B12 that is readily available for cellular uptake. Measuring holotranscobalamin levels may offer a more accurate assessment of functional B12 status compared to total serum B12 levels.
3. Methylmalonic acid (MMA) Levels: MMA testing is another valuable tool in assessing vitamin B12 status and can provide additional information, especially when serum B12 levels are inconclusive. Methylmalonic acid is a compound that accumulates in the body when there is a deficiency of vitamin B12 or a functional deficiency, as seen in Pernicious Anemia.
4. Presence of Antibodies: Pernicious Anemia is an autoimmune condition where the body produces antibodies against intrinsic factor, leading to its destruction. Testing for anti-intrinsic factor antibodies can be more specific for diagnosing Pernicious Anemia, especially when serum B12 levels are inconclusive, although the Intrinsic Factor Antibody test produces a false negative result in about 50% of patients.
5. Interference with Assays: Certain conditions and medications can affect the accuracy of serum B12 assays. For example, high levels of folate supplementation might mask a B12 deficiency, as the symptoms are alleviated, but the underlying deficiency persists.
6. Tissue Stores: Vitamin B12 is stored in the liver, and serum levels may not accurately reflect these stores. Individuals with Pernicious Anemia may have depleted tissue stores even if their serum B12 levels appear normal.
Once a patient triumphs over the elusive diagnosis of Pernicious Anemia, another hurdle often emerges – the challenge of ongoing treatment. In the United States, standard protocols for PA typically involve a series of loading injections of B12 followed by monthly injections for disease management. However, as numerous PA patients can attest, this standard regimen may not always effectively alleviate symptoms. Many find their symptoms returning before the next scheduled injection, prompting them to plead with practitioners for more frequent treatment.
Frustratingly, this has led to a significant number of PA sufferers resorting to self-injection as a means of maintaining symptom control between scheduled medical interventions. While US healthcare offers a framework of B12 injections, the gap between these standard protocols and the patient’s lived experience persists. PA symptoms can reappear well before the next scheduled injection, leaving individuals grappling with the impacts on their daily lives. The disconnect between the scheduled treatments and the unpredictable nature of symptoms underscores the need for a more personalized and responsive approach to PA management.
Since my diagnosis, and with regular self-injections of B-12, most of my symptoms have dissipated. In the midst of medical challenges, I also received my Reiki Master certification and am currently working to secure Hatha, Restorative, and Yin Yoga certifications. This simultaneous journey into holistic healing acknowledges the intricate mind-body connection, recognizing that what we feed the body energetically is as important as what we provide it physically. I am grateful to say that I am now living a vibrant, joyful, healthy life! The relief and gratitude for this turnaround are immeasurable, marking a significant shift in the trajectory of my health.
On the heels of my recovery, and in response to the gaps in support and understanding in the US, I took a proactive step by establishing the first US PAS online support group. This platform has become a haven for Americans grappling with Pernicious Anemia, providing a space to share experiences, gather information, and offer mutual support. Through my involvement with the Pernicious Anemia Society, it has become increasingly evident that a considerable disparity exists between the existing research knowledge about Vitamin B12 and the practical awareness among clinical practitioners in their daily routines. Frequently, we encounter narratives perpetuating misconceptions about Vitamin B12, such as the notion that it is toxic (contrary to reality, as it is a water-soluble vitamin and not toxic), the belief that it can be stored (though stored B12 is ineffective for Pernicious Anemia patients), or the misconception that patients can develop an addiction to B12 (unfounded, though many patients do form a reliance on the positive effects of improved well-being and normal functioning).
The US support group fosters a feeling of camaraderie and provides a reservoir of shared knowledge to help address the gaps within conventional healthcare frameworks. Beyond its role as an informational hub, the support group functions as a valuable source of emotional assistance and empathy. Through the exchange of shared experiences, participants gain clarity and guidance, finding solace in the realization that they are not alone in navigating their individual journeys.
The journey through Pernicious Anemia is not only a personal narrative but also a reflection of systemic challenges. Bridging the gap between research, healthcare professionals, and patients is crucial for a more cohesive and supportive approach to managing B12 deficiency. As patients take an active role in their care, forming supportive communities and advocating for systemic change becomes essential. The emotional and financial toll of this condition underscores the urgency of holistic and patient-centered approaches, aiming to empower individuals on their path to healing.
Thank you Julie. I have AIG/PA, celiac and vitiligo. I think I need to test for autoimmune scleroderma. I trying to join PAS but as an American it’s been difficult registering online. I need to call the UK during my work hours however I keep forgetting or something comes up when I’m starting to make the call. Support is so needed.
Hi
My partner has had pernicious anemia for the past 26 years he is now 51 years old. He also does his own injections as the British Medical Association does not recognise that some people require their intake of B12 earlier than 3 months, he does his every two months. About 7 years ago he began to experience numbness of his feet which has slowly crept up his legs to just below the knee, just to add he has suffered with his back since having the diagnosis of PA. Throughout these years he has seen so many different orthopaedic surgeons about his back and had many MRI scans of which none of them came to any conclusion of his condition and suffering he has had. Of late he has been referred to three different neurologists with regards to the numbness to his legs and other than very slight stenosis in his lower spine, of which they do not conclude that this is the cause of the numbness to his legs but are now suggesting that it could be due to the long term PA. It does not appear that any surgeon or Drs know enough about this, therefore we are not getting any conclusive answers, which is why I am writing to you being someone of experience and collecting a wealth of information from other sufferers. What would be your understanding of this. Would you suggest that this is due to PA or are we missing something else?
Regards
Susanne