Rheumatoid Arthritis – Autoimmune Warrior

5-Year-Old Diagnosed with Rare Autoimmune Disease to Undergo Bone Marrow Transplant

*Paige Neale is a lively 5-year-old girl living with a rare and debilitating autoimmune disease. Image courtesy of Fox News.*

5-year-old Paige Neale of Maryland has an autoimmune disease so rare, scientists believe that there are only 100 people on the planet who have ever had it.

The disease is called lipopolysaccharide-responsive and beige-like anchor protein deficiency, or LRBA deficiency for short. The autoimmune disease causes Paige’s body to attack her joints and internal organs, like her stomach and lungs. Paige was diagnosed with the rare autoimmune disease when her parents noticed that she was getting sick a lot more often than her fellow peers her age, including suffering from swollen joints and various GI issues.

Commenting on his daughter’s diagnosis, Mike Neale said: “It’s such a tough diagnosis because you don’t know what to expect…what laid ahead for her, and what do we do next?”

According to the National Institute of Allergy and Infectious Diseases, the disease is caused by a genetic mutation in the LRBA gene. Patients with the condition are highly susceptible to infections, especially of the upper respiratory tract. LRBA deficiency can also cause various symptoms, including poor blood clotting, anemia, weakness, fatigue, joint pain, stiffness, and eye inflammation (uveitis). It can also make patients more susceptible to developing other autoimmune conditions, such as vitiligo, psoriasis, and type 1 diabetes, which cause additional symptoms as well.

For her part, Paige was also diagnosed with the autoimmune condition juvenile rheumatoid arthritis in addition to LRBA deficiency. To keep her alive, Paige receives bi-weekly shots that cost thousands of dollars, but a new procedure is giving Paige’s family hope for the future. Their little girl is to receive a bone marrow transplant in April from her 3-year-old sister, who happens to be a 100% match.

“Right now you look at her, and she looks like a completely healthy five-year-old girl,” said her father Mike. He continued, “We tend to forget how sick she was leading up to that, so we question ourselves: Should we be putting her through this bone marrow transplant that is going to destroy her immune system and make her really sick?”

If the procedure is successful, however, Paige will no longer need to get bi-weekly injections, and she’ll be able to go on to lead a normal life – an end result that her father says is the ultimate goal. Paige enjoys skiing and horseback riding – activities that have given her and her family a sense of normalcy during the COVID-19 pandemic, and throughout her vigorous treatment regimen.

To follow along with Paige’s heartwarming story, check out the Pray 4 Paige Facebook Group.

9/11 Survivors May Be At Greater Risk of Developing Autoimmune Diseases

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*Jennifer Waddleton, 51, is suffering from an autoimmune disease after serving as a 9/11 first responder. Image courtesy of NBC news.*

Jennifer Waddleton, 31, was working as a paramedic in emergency medical services when she was called to ground zero in New York City on September 11, 2001, after the devastating terrorist attacks on the twin towers. Waddleton is among an estimated 400,000 people who were exposed to toxic debris after the collapse of the towers.

At the time, Waddleton didn’t realize the impact that responding to the event had had on her physical and mental health. Now, however, things are different. She can barely stand for more than 30 minutes at a time or tolerate sunlight. She has brain lesions, her hair is falling out, and her teeth are deteriorating.

“My body is failing me at 51,” said Waddleton, who was diagnosed with cancer, chronic acid reflux, sinus issues, and post-traumatic stress disorder (PTSD). But Waddleton began to experience other symptoms that couldn’t be explained by these diagnoses, including crippling fatigue, chronic migraines, and difficulty swallowing. She knew something wasn’t right.

“In the back of my head, I always knew,” she said. “But everyone was like: ‘No, there’s nothing wrong with you. It’s all in your head. You need sleep, you work crazy hours. Stop complaining’.”

Despite dealing with medical gaslighting for years, Waddleton eventually had kidney failure, and doctors couldn’t deny her poor health any longer. She was diagnosed with systemic lupus erythematosus (SLE) in 2012, 11 years after responding to 9/11. Lupus occurs when the body’s own immune system attacks and damages its organs and tissues.

Before being diagnosed, Waddleton was concerned that her troubling symptoms were somehow related to her experience as a 9/11 responder, and if there were others out there experiencing the same thing. According to several research studies, Waddleton’s concerns are valid; autoimmune diseases do appear to be on the rise among 9/11 victims and first responders alike.

Autoimmune diseases may have been triggered among 9/11 victims as a result of exposure to toxic dust at the scene. Crystalline silica, a construction mineral and major component of the debris, is a noted risk factor for autoimmune disorders. Other chemicals found on-site, like organic hydrocarbon solvents and asbestos, have also been associated with immune dysfunction. A 2015 study found that for every month a first responder worked on the World Trade Center site, the risk of developing an autoimmune disease rose by 13%. A 2019 study based on over 43,000 World Trade Center Health Registry participants found that first responders with intense exposure to the toxic dust were almost twice as likely to develop systemic autoimmune diseases. The most frequently diagnosed autoimmune conditions were rheumatoid arthritis, Sjogren’s syndrome, lupus, myositis, mixed connective tissue disease, and scleroderma.

The same 2019 study also purported that PTSD may also be responsible for triggering autoimmune disorders among 9/11 victims and first responders. This confirms other research on the connection between chronic stress, adverse childhood experiences (ACEs), and autoimmune disease.

Many victims of 9/11 can have their health insurance covered or receive a financial payout from the September 11th Victim Compensation Fund and the World Trade Center Health Program. However, autoimmune diseases are not acknowledged by the compensation fund nor the health program. This means that those who suffer from autoimmune diseases are ineligible for free health care, and cannot receive compensation for their suffering. Most of the covered conditions on the list include acute injuries, lung conditions, cancer, and mental health issues.

Multiple petitions among 9/11 victims have requested to have autoimmune diseases added to the list of covered conditions, to no avail; the federal government has cited lack of sufficient evidence proving the link between autoimmunity and exposures from 9/11. Another issue is that autoimmune diseases may have a genetic component, making it even more difficult to prove that the development of these conditions was caused by exposures during 9/11, and not the patients’ own genetic makeup.

So for now, first responders like Waddleton will have to wait until the research catches up. Waddleton manages a Facebook group for 9/11 emergency responders who have suffered from autoimmune diseases after the event, and has seen first-hand the effects that it’s had on these patients.

“It’s incredibly frustrating,” she said. “They left everyone else hanging. This wasn’t supposed to be my life.”

To read more about this story, visit the NBC news website.

The Connection Between Blood Type and Autoimmune Disease

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Medical researchers have long asked the question: Is there a connection between one’s blood type and autoimmune disease?

Clinical studies have had varied results, mostly due to the small sample sizes of each study. Though this area needs more research, this blog post will cover some of the research that has been published so far.

Study: Rheumatic Diseases and ABO Blood Types

A 2017 study in Turkey sought to find a link between particular blood types and the incidence of rheumatic disease. Rheumatic disease includes over 200 conditions that cause pain in your joints, connective tissue, tendons, and cartilage; many of these conditions are autoimmune diseases such as rheumatoid arthritis, Sjogren’s Syndrome, and systemic lupus erythematosus.

The researchers assessed 823 patients, with the following distribution of blood types: 42.5% patients had type A blood, 33.2% had type O blood, 15.4% had type B, and 8.9% had type AB. Each patient in the study had at least one of the following nine rheumatic diseases:

Behçet’s disease
Familial Mediterranean fever (FMF)
Rheumatoid arthritis (RA)
Spondyloarthropathy
Systemic lupus erythematosus (SLE)
Systemic sclerosis (SSc)
Sjogren’s syndrome (SjS)
Undifferentiated connective tissue disease
Vasculitis

Their study found that there was a significant difference in the distribution of blood types among those with rheumatic diseases. The most common autoimmune diseases among those with type A blood were: rheumatoid arthritis, spondyloarthropathy, vasculitis, Behçet’s disease, and undifferentiated connective tissue disease.

The most common autoimmune diseases among those with type O blood were: systemic lupus erythematosus, systemic sclerosis, and Sjogren’s syndrome. The researchers also noted that SLE, SSc and SjS are the connective tissue disorders frequently observed with antinuclear antibodies (ANA). The rheumatic disease familial Mediterranean fever was also found to be most common in those with type O blood.

Those with blood type AB were observed to be the least likely to suffer from rheumatic disease. However, it should be noted that type AB blood is also the most rare blood type in general, and represented the smallest amount of patients studied.

In addition, it was found that there was a significant difference in the distribution of Rh factor in rheumatic diseases. Of those with rheumatic diseases, 92.2% patients were Rh positive and only 7.8% patients were Rh negative. However, it should once again be noted that a positive Rhesus Factor (Rh+) is also more common among the general population than a negative Rhesus Factor (Rh-).

Is there a link between autoimmune disease and blood type?

So, if you have blood types A or O, does this mean you are more likely to get an autoimmune disease? The researchers who conducted this study concluded: “…we believe that the higher incidence of different rheumatic diseases in different blood types is associated with different genetic predispositions.”

In other words, since blood type is inherited (i.e. genetic), the results of the study point to a likely connection between certain genes and the increased predisposition for developing an autoimmune or rheumatic disease.

Do you know your blood type?

I, for one, do not know my own blood type. This is somewhat ironic, since I’ve undergone many blood tests as part of my Sjogren’s syndrome diagnosis, as well as for monitoring my liver enzyme levels while taking certain medications to control my autoimmune symptoms.

I actually did ask my primary care doctor what my blood type was the last time he ordered a test, and he advised that finding out your blood type is not a common part of the blood testing routine, and thus, he didn’t know what mine was.

If you have an autoimmune disease (or multiple diseases), and you know your blood type, comment below and let us know, are your condition and blood type consistent with the results of this study?