Ali Hardy struggled with her health for a long time. In an article for The Mighty, Ali, an actress in New York City, explains that she was never able to get a diagnosis for her often debilitating migraines and otherwise declining health. Despite this, Ali enrolled in a summer acting program to hone her skills. Her cluster headaches grew more intense, her symptoms more pronounced. Then, her mentor asked a question: Had she ever been tested for antiphospholipid syndrome?

Admittedly, she had not. But much like many people within the rare disease community, Ali’s journey to diagnosis was rife with conflict: a lack of education, doctors resisting testing, or unhelpful suggestions. Now, with a concrete diagnosis and care plan, Ali advocates for rare disease patients. The first step? Better research, awareness, and resources for rare diseases.

Antiphospholipid Syndrome

Antiphospholipid syndrome (APS) may also be called Hughes syndrome. It is a rare autoimmune disorder in which the immune system mistakenly attacks phospholipids, or fats, found in blood cells and blood vessels. Normally, phospholipids assist with regulating blood clotting. However, people with APS may experience excess blood clots in their veins or arteries because the blood clots too quickly.

Nobody knows the cause of antiphospholipid syndrome. Some hypothesize that is is caused by some sort of spontaneous genetic mutation, an infection, or additional autoimmune conditions. Symptoms include seizures, dementia, chronic headaches, stroke, issues with fertility, a signature lacy rash, and blood clots that can spread to the lungs.

Want more information on antiphospholipid syndrome? Learn more here.

Ali’s Story

It had been seven years since the onset of her symptoms. Seven long years of cluster headaches and migraines, muscle weakness, and fatigue. None of this stopped Ali for auditioning for a college acting program, but it didn’t exactly help, either.

Ali told the school about her health issues and became close with the Director of Education. Over the course of her college career, they frequently discussed the complexities of her condition. At first, his suggestions and platitudes mirrored those that many in the rare disease community hear. “Have you tried X?” “It can’t be that bad. Just cheer up.” “It’ll get better if you just give it time.”

But as her condition worsened, something changed. Her mentor began listening more carefully to what Ali was saying, how she was feeling, and what types of “treatments” weren’t working. As she went into her second year of college, she was terrified about her health. She was experiencing severe cluster headaches and hemiplegic migraines. How could she continue with school?

Cluster Headaches & Hemiplegic Migraines

To give you an idea of how Ali was feeling, the Mayo Clinic describes cluster headaches as:

one of the most painful types of headache. Bouts of frequent attacks, known as cluster periods, can last from weeks to months, usually followed by remission periods when the headaches stop.

During cluster periods, patients usually experience severe, excruciating pain centered around one eye or one side of the head. Additionally, symptoms include restlessness, flushed skin, eye swelling or drooping, and a stuffy nose.

Hemiplegic migraines, on the other hand, are a rare type of migraine that causes muscle weakness on one side of someone’s body. Both conditions can make it difficult to perform day-to-day functions.

Antiphospholipid Syndrome: Receiving a Diagnosis

After Ali entered into her second year of school, her mentor’s research led to a potential diagnosis: antiphospholipid syndrome. So she made it a point to ask her doctor.

But her doctor declined to test for Lyme disease, Von Willebrand disease, or antiphospholipid syndrome. First, her doctor claimed the tests were unnecessary. Then, after looking up APS, the doctor stated that there was no way Ali could have APS. According to Ali, the doctor told her:

“I need to stop looking for problems.”

Ali persisted, and her hunch was correct: her first results suggested a low positive. For antiphospholipid syndrome, an official diagnosis depends on positive results on tests at least 6-12 weeks apart. But even after her initial positive, Ali’s doctor fought back. When Ali told her another test needed to be run, the doctor told her that it wasn’t necessary. Then she refused to share the test results and told Ali not to return.

So Ali visited another doctor, her naturopath. Unsurprisingly, her results came back positive again.

Advocating for Medical Awareness

Unfortunately, Ali’s journey is not abnormal. 4.5 years is the average time it takes for patients to receive a diagnosis for an autoimmune disorder. By this time, most patients visit at least 4 doctors. More broadly, it takes nearly 5 years and 8 doctors for patients with rare diseases to receive an accurate diagnosis. For Ali, it took 7 years and 36 doctors. Of these 36, none tested for any autoimmune disorders beyond lupus.

This puts patients with rare diseases in dangerous positions. For example, Ali could have experienced a serious clotting event leading to stroke, heart attack, or a pulmonary embolism.

So what needs to change? First off, says Ali, there needs to be more education on rare diseases for medical students and within the medical community. It shouldn’t take a well-meaning friend to discover a diagnosis or a potential conditions. If one in 10 citizens have a rare disease or disorder, the medical community should become more well-versed on the conditions, symptoms, and treatments.

Next, doctors should work on improving doctor-patient communication. Ali explained that one of the most frustrating parts of her journey was:

“being dismissed by people who ended up being wrong. I’d go to appointment after appointment with piles of research and ask if they could just look over it, only to be told to stop searching for things to be wrong with me, labeled as a difficult patient and told that a diagnosis wouldn’t change their course of treatment.”

Even if a doctor is uneducated about a specific condition, opening the door to discourse is a way to build trust.