“Not again; I can’t take this anymore,” cried Anna as she began to experience a terrible headache as she went to bed. It was the regular story for her now. She was thirty-five years old, and she had been through so much over the last twenty-five years. What had started as migraines, dizziness, and tiredness at the age of ten had become a nightmare for her. There was no apparent cause for her symptoms despite extensive investigations.

She had her first moment of horror at thirteen when she suddenly felt like she couldn’t move her left arm and leg. Her speech became incomprehensible, and her face became contorted. On arrival at the Emergency room (ER), she was diagnosed with a stroke. Because it is unusual to get a stroke at such a young age, she underwent a series of tests, all of which returned  normal.

It had all been downhill ever since. Over the last couple of decades, she had suffered seven strokes along with intractable headaches, dizziness, memory and attention deficits, hypertension, and then depression. Just before her thirty-third birthday, she developed another one of her unexplainable symptoms. She developed a painless reddish-purple net-like rash over her buttocks and lower back. It subsequently spread to her thighs and arms. She tried certain creams and lotions, but nothing worked. 

She had been to many specialists but had yet to come to a correct diagnosis that explained everything. Neurologists had checked her for vasculopathy, a disease that tends to cause inflammation and narrowing of the vessels. She underwent Magnetic Resonance Angiography (MRA), cerebral angiography, and fundoscopic examination to check for irregular narrowing or dilation of the brain or retinal vessels. Cardiologists had checked her heart in and out, looking for any arrhythmias, tumors, valvular problems, and even for a Patent Foramen Ovale (PFO) that could cause a cryptogenic stroke. Rheumatologists tagged her rash as Livedo Reticularis. The fact that the rash worsened upon cold exposure, as described by Anna, further supplemented that thought process; however, the cause for it was unclear. They evaluated her for all known autoimmune disorders by ordering extensive antibody panels, complement levels, and inflammatory markers. Anna had two healthy babies and never had any miscarriages, so the seemingly obvious anti-phospholipid antibody syndrome (APLA) was not the best fit either.

Despite her reluctance, her husband rushed her once again to the ER. “Honey, why do you think it will be any different this time? They will give me some fluids, toss in some painkillers or vitamins, and call it a day. So why even bother?” expressed Anna in frustration. But little did she know that it would indeed be a different story that day. Deep inside, she was sulking. Over the years, she had convinced herself that her mysterious disease was simply meant to be unanswered.

The ER team that day had a new face. Dr. Lively was an intern who had just begun his training. He had the charisma, vivacity, and dynamism of a modern doctor. At the same time, he possessed wisdom and shrewdness reminiscent of a seasoned physician. He used to live in a bubble where external worldly disturbances did not tend to deter his mind. He had discovered the sweet spot in his life where he relished in peace amidst all the chaos — solving cases. It was all that ever mattered to him, and he would go to any extent to feel that pleasure, thrill, and eternal trance where nothing else mattered. One would expect such a brilliant doctor to be extroverted, arrogant, and condescending. However, he was surprisingly affectionate and kind. He was more popular among patients than among his peers. The reason was simple; he would always put medicine above him. He worshiped it, and he breathed it.

He garnered significant attention during medical school, which made him quite sensational. First, he was elegant beyond imagination in his approach to tackling puzzling cases. His reckless attention to tiny details led him to diagnose quite a few riddles that baffled all others while just being a final-year medical student. Secondly, his way of dealing with patients was unique. He had this strange ability to converse with the patient in such an eloquent way that patients used to feel as if they were friends while talking to him. It was one of those intangible, indescribable talents. He had diligently developed those skills over the years. When he evaluated Anna, he immediately knew from her records that this was not just a simple migraine. The complexity of the symptoms perked up his curiosity. He was ecstatic to dig deeper into the problem. 

After the shift ended, he invited Anna and her husband to his office in the evening. The most striking thing about his office was not just the uncanny tidiness but the pinpoint precision with which everything was in place: books, stationery, stethoscope, chair, desk, everything neatly aligned. He liked orderliness in his approach to cases, too. He began the conversation gently, “I know you have done this countless times, but can you please do it again? Would you please describe everything that has happened to you from the beginning?” A peculiar reassurance in his voice gave Anna the hope that it would be different today. He listened without interrupting even once, straight for half an hour. In the end, he had just one question. He asked Anna if the rash ever improved or disappeared on warming. Anna’s answer was a resounding no. He then reviewed all her records patiently, especially MRI findings and description of the rash by rheumatologists. That data was enough for him to go on. He thanked Anna and her husband for their time and asked them to meet with him the next day. He remarked, “Instinct is marvelous. You can neither explain it nor ignore it”. Anna didn’t understand that remark, but she felt satisfied that someone finally listened to her patiently and thoroughly. 

That night, Dr. Lively took a pen and a piece of paper and neatly wrote down all of Anna’s symptoms in sequence. He then underlined two things: Livedo Reticularis and Recurrent Strokes. He jotted down three questions: 

1. Why did she have multiple strokes despite having a normal MRI and angiography? 
2. What diseases can be elusive despite exhaustive and comprehensive testing?
3. Is Livedo Reticularis indeed Livedo Reticularis?

He knew that if he could answer all three questions, he could solve the mystery. For the first question, he reasoned that the involvement of small blood vessels beyond the resolution capabilities of MRI and angiography explained the recurrent strokes despite unrevealing tests. Autoinflammatory disorders, vasculopathies, and metabolic disorders can also go unrecognized despite unremarkable tests. That answered his second question. The last one was more perplexing. 

He spent the entire night trying to figure out the answer. He drank three cups of coffee, listened to soothing music, and then went to the terrace. It was past midnight now. He gazed into the cold, empty streets permeated with dense mist and filled with confounding silhouettes of cars, houses, and street lights. He was lost in thoughts when it suddenly hit him. 

He had the answer to his last question. He was shaking and trembling with excitement. What if livedo reticularis was a confounding silhouette of something similar but different: livedo racemosa. They are almost the same, except that the latter does not improve upon warming and characteristically involves the back and buttocks more than the legs, both features being consistent with Anna’s story. 

Now that he had answered all the questions, he had reached the trail’s end. The answer was staring him in the face. All the findings pointed to the diagnosis of Sneddon Syndrome. 

A rare vasculopathy that classically results in livedoid racemosa and recurrent multifocal strokes. It also explained her migraine, hypertension, and progressive memory deficits. Sneddon Syndrome is often confused with other autoimmune disorders like Polyarteritis nodosa and APLA, leading to diagnostic delay. 

The next day, looking at the delightful smile on Dr. Lively’s face, Anna knew that good news awaited her. He explained to Anna in a detailed manner how he reached the diagnosis and the possible treatment options. Although not curable, immunosuppressives, antihypertensive medications, and blood thinners could help. Anna was in tears as she finally got her answer—tears of joy.

Once the treatment started, Anna gradually began to feel better. Although she still had memory deficits and limb weakness, her rash and headaches improved. As for Dr. Lively, he was back to his shift, treating routine headaches and dizziness in the ER. His mind was still basking in the memory of Sneddon Syndrome!

Life goes on.