AJ’s Journey: Finding Answers After Years of Uncertainty

Key Takeaways

• AJ’s journey to an autoimmune diagnosis involved progressive, multisystem symptoms, fragmented care, and clues like a high antinuclear antibody (ANA) titer that were documented but not properly communicated to her.
• As her symptoms worsened, AJ was encouraged to become her own advocate. She reviewed hundreds of pages of her own medical records, tracked dozens of symptoms, requested referrals, and pushed for a neurological evaluation.
• She was eventually diagnosed with Sjögren’s disease with neurological involvement, autoimmune meningoencephalitis, and autoimmune autonomic ganglionopathy-spectrum dysautonomia.
• AJ now advocates for earlier recognition, stronger patient-provider relationships, coordinated care, and greater awareness of what it is like to live with a complex autoimmune disease.

Living Through a Medical Mystery

Long before AJ received an autoimmune diagnosis, she could feel that something was wrong; however, the medical system struggled to connect the dots. Her symptoms crossed multiple specialties and affected different parts of her body, making them difficult to fit into a single explanation. Accordingly, AJ’s condition was wrongly attributed to things like hormones and perimenopause or stress and anxiety. Many medical professionals even tried to convince her that her symptoms were not neurological.

As doctors struggled to give her answers, AJ could feel her condition worsening, disrupting her independence, career, relationships, finances, sleep, and sense of safety. Still, the biggest challenge was having to continually demonstrate that what she was experiencing was real and deserved further investigation.

“I was living inside a medical mystery that was progressing faster than the people around me seemed willing to recognize,” AJ recalls. 

Her story is still unfolding, but she has managed to find some clarity and pull meaningful messages from what she has gone through thus far. You can read more about AJ’s transformational journey below.

An Overlooked Autoimmune Clue

One of the most important moments in AJ’s medical history occurred after pituitary surgery in May 2023. Approximately two months later, she tested positive for antinuclear antibodies (ANA) at a high titer of 1:320, meaning her blood had a high concentration of autoantibodies that react against the nucleus of healthy cells.

This autoimmune biomarker lab result was documented in her medical record along with a recommendation for rheumatology referral and evaluation. Yet, AJ says the finding was not meaningfully communicated to her, explained, or followed up at the time.

“That was a missed window,” she says. “In my case, the clue was seen, written down, and then functionally abandoned.”

Retrospectively, it is clear that her ANA concentration was a sign of AJ being in the autoimmune prodrome, the preclinical, often asymptomatic stage of autoimmune disease, but that realization didn’t hit until the symptoms started popping up.

When Symptoms Became Impossible to Ignore

About two years after that ANA test, AJ started noticing changes in her body that were directly affecting her life. Some of the most prominent symptoms were:

• Migraines when she woke up each morning
• Severe fatigue during the day and sleep disruption at night
• Cognitive dysfunction
• Lower urinary tract complications
• Weight loss
• Shortness of breath and inexplicable feelings of panic

AJ also felt significant changes in emotional regulation. She has described feeling as though her nervous system had been “hijacked,” with her stamina, clarity, independence, and ability to function changing dramatically.

How These Symptoms Impacted Her Life

Before dealing with the symptoms mentioned above, AJ had built an impressive career as a senior technology executive. Eventually, her health made it impossible for her to continue working. She remains uncertain when she will be able to return because she and her care team are still working to identify a treatment that works for her.

The growing number and severity of symptoms also made it increasingly clear that looking at each problem separately was not enough. It is important to consider the broader pattern.

Becoming Her Own Advocate

Eventually, AJ realized that she could not wait for someone else to connect every piece of her medical history. While dealing with significant cognitive and physical symptoms, she began taking on the role of investigator.

Some time-consuming tasks she took upon herself include:

• Downloading and reading through 746 pages of her medical records
• Tracking more than 50 symptoms and building detailed timelines
• Comparing laboratory results
• Requesting referrals and pushing for additional testing

At one neurology appointment, AJ even refused to leave until brain and spine MRIs were ordered because she knew something neurological was happening—that persistence ultimately helped lead to further neurological evaluation and a broader understanding of her condition.

Uncovering the Aforementioned ANA Result

When AJ downloaded her complete 746-page medical history, she found the earlier documentation of her high-titer ANA result and the recommendation for rheumatology follow-up.

“That experience taught me that understanding your own medical history is not optional when you have a complex illness. It can be lifesaving,” she says. This is ultimately what helped AJ reveal complicated patterns in her health that pointed to autoimmunity.

The Fight to Find Answers

After pushing for more tests and thoroughly documenting her symptoms, AJ was eventually diagnosed with Sjögren’s disease with neurological involvement, autoimmune meningoencephalitis, and autoimmune autonomic ganglionopathy-spectrum dysautonomia. 

A Summary of Her Diagnostic Journey

Getting an autoimmune disease diagnosis was a rather grueling process for AJ. The table below breaks down how long it took to get answers and what had to be done in the process.

Those numbers illustrate the scale of the journey, but they do not fully capture its personal cost.

The Personal Cost of Delayed Diagnosis

AJ went from a high-level career to being unable to work. She has experienced financial and relational strain, disrupted sleep, changes in her independence, and significant effects on her mental and emotional well-being. To her, work was about more than a paycheck; it represented independence, purpose, competence, and a future she understood.

Plus, repeatedly having to prove that her symptoms were real also affected her trust in the healthcare system. When a patient is already dealing with cognitive impairment, physical decline, fear, and uncertainty, having to organize hundreds of pages of records and repeatedly advocate for additional evaluation can become an enormous burden.

AJ describes the contradiction this way: “the sicker [a patient is], the more capable [they] are expected to be in order to access care.”

Facing New Challenges

Although AJ’s diagnoses finally provided names for what she had been experiencing, they did not provide an immediate solution. 

“Diagnosis was not the end of the journey,” AJ explains. “It was the beginning of a new phase: trying to find treatment before more damage is done.”

The Trials and Tribulations of Treatment

AJ underwent high-dose intravenous steroid treatment, but after three infusions she experienced severe neuropsychiatric and autonomic destabilization. Her psychiatrist and primary care team sent her to the emergency department with a letter explaining the seriousness of her mental state and treatment reaction. Instead of receiving the coordinated response she hoped for, AJ waited for hours, learned that no psychiatric team was available that night, and ultimately left feeling worse and less safe. 

This experience reinforced that complex autoimmune disease cannot always be separated neatly into individual specialties—many aspects can intersect, including:

• Neurological symptoms
• Autonomic dysfunction
• Mental health
• Sleep
• Treatment reactions
• Patient safety

Moving Forward

AJ’s care team is now considering advanced immune-directed treatment options, including intravenous immunoglobulin (IVIG), plasmapheresis, rituximab, and other new, research-backed therapies, which inspires hope. However, she is expecting to face hurdles regarding things like:

• Prior authorization and insurance review
• Specialty pharmacy coordination
• Infusion scheduling

For people with rare or complex autoimmune diseases, AJ and many others crave a healthcare system where access is not dependent on whether a patient’s illness fits neatly into an insurer’s categories.

Building a Supportive Community

Even though she did a lot of legwork, AJ emphasizes that she could not have made it this far in her autoimmune journey alone. She was able to find the right medical providers—her primary care physician and psychiatrist have been particularly important sources of support. 

How Her Primary Care Physician and Psychiatrist Helped

Rather than treating her mental health history as a reason to dismiss her physical symptoms, they recognized that her mental state could be affected by medical illness, treatment reactions, sleep deprivation, fear, and the trauma of repeatedly being dismissed. They also helped AJ navigate bureaucracy, write letters, coordinate care, and advocate for her when she could not carry the burden herself.

Turning to Other Patients

Patient communities also provided immense support. AJ recognizes that finding support groups does not replace medical care, but three things they can provide are:

1. Practical knowledge
2. Emotional validation
3. A sense of connection

Talking with other autoimmune and neuroimmune patients helped AJ understand that experiences such as diagnostic delays, dysautonomia, neurological symptoms, treatment difficulties, and dismissal were not unique to her. That recognition matters when living with an illness that can be invisible to others.

Advocating for Earlier Recognition and Better Care

AJ believes autoimmune awareness needs to extend beyond individual diseases because patients do not experience their illnesses in neatly separated categories.

Someone with Sjögren’s disease may experience neurological symptoms, dysautonomia, bladder dysfunction, migraines, cognitive changes, fatigue, pain, or psychiatric symptoms. Another person with a different autoimmune condition may experience an entirely different combination of symptoms while facing many of the same systemic challenges.

Disease-specific communities remain important because patients need recognition of the particular ways their conditions can affect them, but AJ also sees value in bringing the various autoimmune diseases together around shared challenges, including things like:

• Delayed diagnosis
• Fragmented care
• Insurance barriers
• Invisible symptoms
• The lack of interdisciplinary thinking

She believes greater awareness could help shift healthcare toward earlier recognition and intervention.

Making the Medical Journey Easier for Others

AJ encourages other patients to trust themselves, document their experiences, and remember that a doctor’s uncertainty does not necessarily mean that nothing is wrong. You can follow in her footsteps by obtaining copies of your medical records, laboratory results, imaging reports, clinical notes, referrals, and medication changes.

AJ also encourages patients to ask direct questions: What diagnoses are being considered? What has been ruled out? What has not been ruled out? What evidence supports the current explanation? Could something else explain the symptoms?

“You are allowed to want answers,” she says. “You are allowed to insist that your suffering be taken seriously.”

Like AJ, the Autoimmune Association wants every patient to feel seen and heard. If you have been diagnosed with an autoimmune disease or believe you may have one, check out our collection of patient resources, which features content on getting a diagnosis, choosing a doctor, navigating insurance, and more. Additionally, you can contact our team if you need to be pointed in the right direction.