This month’s blog post is from Wendy Aris host of the Dis a fi mi History Podcast which covers Caribbean History and researching family history. Wendy previously interviewed our CEO and you can find this and many other interesting topics on her podcast recordings on Apple, Podbean and many other places.
When I first delved into genealogy, my motivation was simple: curiosity. I wanted to know more about my ancestors, where they came from, and how their lives shaped my own. What I didn’t expect was how this journey would lead me to uncover a critical piece of medical history—one that would have profound implications for my family’s health today. It all began with my great-grandfather, Frederick William Aris.
A Discovery Rooted in History
Frederick William Aris was born on May 4, 1857, and passed away on August 16, 1912. His cause of death? Pernicious Anemia — a condition that, at the time, was untreatable and ultimately fatal. It wasn’t until the 1920s that medical advancements started to lead to an effective treatment for this disease, primarily through vitamin B12 supplementation. Unfortunately, Frederick did not have access to this life-saving treatment, and his passing was recorded because of the disorder.
Pernicious Anemia is an autoimmune condition that impairs the body’s ability to absorb vitamin B12, leading to a cascade of neurological and hematological issues. Today, it’s easily managed with B12 injections or supplements, but in the early 20th century, it was a devastating diagnosis. While I initially regarded Frederick’s death as just another historical fact, my perspective shifted dramatically when I encountered the condition in a modern medical setting.
A Medical Connection: The Neurologist’s Screening QuestionThe Familial Thread: B12 Deficiency and Autoimmune Conditions
As I continued my research, I connected with distant relatives who, unbeknownst to them, were also dealing with the legacy of Frederick William Aris. Many of them were taking B12 injections regularly but had no idea why. They had never drawn the familial connection to Frederick or understood the hereditary nature of Pernicious Anemia.
Beyond B12 deficiency, I noticed another trend—an increased incidence of autoimmune conditions within the family. Pernicious Anemia itself is an autoimmune disorder, but I also found relatives with lupus, and other immune-related conditions. These findings reinforced what medical research has long suggested: autoimmune diseases often run in families, and genetic predisposition plays a significant role in their development.
Genealogy as a Tool for Advocacy
One of the most powerful aspects of genealogy is its ability to transform how we approach healthcare. Because of my genealogical research, I was able to have more informed discussions with my brother’s doctors. Instead of vague concerns, I could present a documented history of Pernicious Anemia within our family. This knowledge encouraged physicians to be more mindful of potential B12 deficiencies, particularly in relation to neurological symptoms.
Advocacy in healthcare is crucial, and genealogy has given me the confidence to ensure my brother’s medical team takes our family history seriously. Rather than passively accepting a diagnosis, we now approach medical consultations with a clear understanding of our hereditary risks. This has not only changed the way we navigate medical decisions but has also empowered us to take preventative steps in maintaining overall health.
A Rare Neurological Diagnosis: DLG4 and Its Implications
After extensive medical testing, my brother was diagnosed with a rare neurological condition linked to the DLG4 gene. This gene plays a crucial role in brain development, and abnormalities within it can lead to significant cognitive and motor challenges. While this condition is distinct from Pernicious Anemia, our genealogical discoveries helped us recognize the importance of investigating genetic connections and understanding inherited risks.
In some ways, genealogy became a roadmap that led us to ask the right questions and push for the right tests. Without our deep dive into family history, we might not have been as proactive in seeking answers. While the diagnosis of DLG4-related neurological issues was daunting, it also provided clarity—allowing us to focus on appropriate treatments and interventions tailored to my brother’s specific needs.
The Power of Knowing
Reflecting on this journey, I am reminded of how genealogy has provided answers that we didn’t even know we were searching for. Learning about my great-grandfather’s struggle with Pernicious Anemia was not just about understanding the past—it was about equipping ourselves with the knowledge to navigate the present and future.
It is far better to know than to guess. Had we not discovered our family’s history with Pernicious Anemia, we might have overlooked critical symptoms or dismissed potential warning signs. Instead, we now approach our health with awareness and preparedness, understanding that the conditions of our ancestors can still shape our lives today.
A Deeper Appreciation for Family and Legacy
This journey has also deepened my appreciation for the ways in which traits, conditions, and resilience are passed down from generation to generation. Genealogy is more than just names and dates; it’s about understanding the stories, struggles, and triumphs of those who came before us.
While medical conditions like Pernicious Anemia and DLG4-related neurological disorders present challenges, they also serve as reminders of the importance of familial bonds. We carry the legacies of our ancestors in ways we may not even realize—through our genetic makeup, our traditions, and even the ways we approach health and well-being.
Final Thoughts
What started as a simple exploration into my family tree became a transformative experience that altered the way I view both history and health. Through genealogy, I not only discovered a deeper connection to my ancestors but also gained invaluable insights into my family’s medical history—insights that have directly impacted my brother’s care and well-being.
This journey has taught me that understanding where we come from is more than an academic exercise; it is a powerful tool that can guide us toward better health, stronger advocacy, and a greater appreciation for the intricate web of life that connects us all.
As I continue my research, I do so with a renewed sense of purpose—knowing that each discovery has the potential to change lives, just as it did for my brother and me. Genealogy isn’t just about the past; it’s a beacon that illuminates our present and helps us navigate the future.
Yes this is a very valid blog. I have always known pernicious anaemia was genetic as my great aunt had it and had the same symptoms as me. Autoimmune conditions run in my family such as vitiligo and thyroid problems. My poor great aunt though had to travel to hospital to get her B12 injection and if transport did not come she did not get her injection. She suffered paranoia and used to say to my dad that there was someone outside. She simply was not getting enough B12. She died of stroke. We know more now thanks to the internet. Genetic tests run by family history sites can include B12 genetic links now, although the information gained can be limited as to its usefulness.
What shocks me–in today’s FAILED MEDICINE–is that my grandmother suffered from what I’m now sure was pernicious anemia, including heart palpitations, digestive issues, depression and fatigue. Yet doctors in a generation close to the 1932 date before which there was no synthetic B-12 failed to diagnose her.
Then, my generation came along-though of note, a genetic person DID FIND the genetic error in me (as referenced by Susan in this post) that causes the genetic form of pernicious anemia (There are two types, the milder acquired form or the more severe GENETIC form. Source: National Institutes of Health, the United States.) Meanwhile, I have one sibling being wrongly told by her doctor she has “fibromyalgia” (that based on nothing more than a wild guess, and that based on a generation of “doctors” (I have a low opinion.), upon whose radar pernicious anemia never comes, though with proton pump inhibitors, etc., they should darned well be screening for it.
What want to know is how pernicious anemia has gone from the 3rd deadliest disease in the U.S., up until 1932, and now doctors don’t even know (1.) how to test for it properly or (2.) even what its symptoms are. In my case I was describing neuropathy (as I was told that couldn’t be because I didn’t have diabetes) digestive issues, headaches, fatigue and, increasingly, difficulty walking due to “something neurological.” How can we have doctors so poorly trained today that those symptoms are meaningless, and how when–as pretty much ALL patients in the U.S. do–someone finally diagnose themselves, doctors WRONGLY believe B-12 is somehow a cure and the patient’s problems are over. Therefore, we’re still mostly “at sea,” insufficiently treated and marginalized–just as our grandparents were before us.
More, in 2025, we deserve more than a 1932 “treatment” for the world’s 4th deadliest auto-immune disease AND we deserve doctors at least trained in the dietary restrictions requisite for P.A. patients. I encountered doctors so poorly trained (and unmotivated) that, while I was hearing about special diets, when I inquired about diet with my “doctors,” I got nothing.
Hi Kathleene, Are there special diets suggested for those with autoimmune PA?
Strikes curiosity. Anyone have input on this?
I am in my 70s now and was fortunate enough to find my natural family a few years ago whom I had not know my whole life.
After a while, when chatting with my new half-sister, she started telling me how tired she could be. Brain fog was a problem etc etc. I asked if she had ever been tested for B12 deficiency. No, she didn’t know what that was. I suggested that she could ask for a test when next at the doctors. Guess what, she was found to be B12 deficient. Since then, her daughter has also tested deficient.
This could of course, be coincidence but I believe wholly that it is familial.
Thank you for this article
But remember, I had perfectly normal B-12 levels even as my neurological problems grew so severe I was afraid, on bad days, to walk without something to hold onto.
Then, after I was (no thanks to doctors) diagnosed, one clinic I had gone to told me that, no, I didn’t have pernicious anemia because my past B-12 levels had been normal. Fundamentally, they were saying, “No, you don’t have pernicious anemia,” but I absolutely did!
What everyone seems to be forgetting–beyond how desperately research is needed on this horrible disease–is that growing evidence shows that, in many people, it isn’t a lack of B-12 as much as an inability for B-12 to be used! In that manner, it is so frighteningly similar to Type 2 diabetes: the insulin is there, it just can’t be used properly.
That, in my view, shows that other testing–an intrinsic-factor antibody test and/or a blood gastrin level test–is essential because checking B-12 can lead to a false negative for P.A. upwards of 95 percent of the time. My intrinsic-factor antibodies came back through the roof and my stomach gastrin levels (blood test) were almost undetectable, showing, fundamentally, a dead stomach in several senses of the word. Meanwhile, throughout, I showed normal B-12 levels, proving that checking B-12 can be a fool’s errand.
So, if your B-12 shows normal but you still have P.A. symptoms, demand auto-immune tests and gastrin tests.
I saw a Cardiologist who gave me a stress test because I was so weak and had no stamina. I failed the test & all he said was that I needed to exercise. He took some blood and sent me home. The next day he had his nurse call me and say that I needed to get to the hospital to have a B12 Shot.
This was about 16 years ago & I give myself injections. They really don’t seem to help me as I’m so tired I can hardly function. I have Thyroid issues, balance issues and Oral Lichen Planus. I actually feel like I’m going to die any day. Oh I was told that I’d had a stroke previously but I was unaware.
I have no life and I have Neuropathy and Major Depression. I never leave the house anymore.