My brother died from a rare disease. I have now been diagnosed with the same condition.

Luan and her brother Russel were on their way home from work on the Tube in 2003 when Luan suddenly felt the tell-tale tingling in her fingers and buzzing on her face that signaled an oncoming migraine. This was a common occurrence for Luan, who had been experiencing complex migraines with aura since she was in her twenties. She wasn't too worried, as the pain and visual disturbances usually subsided after a few hours of rest.

However, this time was different. Luan endured two days of excruciating head pain, insomnia, and confusion. Eventually, her brother Julian had to take her to the hospital. As they waited for her to be seen, Luan's vision suddenly disappeared and she started shaking uncontrollably. She was quickly placed in a side ward where she drifted in and out of consciousness, unable to even hold a cup or lift her arms.

Luan vaguely remembers a medic suggesting that her blindness was caused by hysteria, and she could sense the frustration of those around her. Her last memory was watching the ceiling go by as she was wheeled in for an MRI scan. Fortunately, Luan was one of the lucky ones.

Five days later, Luan woke up to see her mother and brother Russel standing by her hospital bed. They had traveled 200 miles to be by her side, which made Luan realize that something serious must have happened. After a series of tests and scans, doctors discovered extensive damage on Luan's brain, but no clear cause or trigger. They concluded that she had suffered from a severe hemiplegic migraine, and that it was just one of those things that happened sometimes.

Luan was assured that it was unlikely to happen again, and life went back to normal. She continued to experience the occasional migraine with aura, but otherwise, she was healthy. In 2008, she gave birth to her daughter Molly via emergency caesarean after a difficult three-day labor. Just eight days later, Luan found herself back in the hospital with another apparent migraine-induced seizure. This time, she experienced sudden confusion, difficulty speaking, and an inability to use her phone. She knew she needed to go to the hospital, and her partner took her there.

By the time they arrived, Luan was convulsing and her condition quickly worsened. She was transferred to a hospital with a specialist stroke unit, where she remained for two weeks. During her stay, she experienced terrifying hallucinations, intense pain, and a feeling that she had dropped her newborn daughter. When she was finally discharged, Luan learned that Social Services had been involved, investigating whether she was suffering from postpartum psychosis and posed a risk to Molly.

After months of testing, Luan's neurologist finally diagnosed her with Cerebral Autosomal Dominant Arteriopathy with Sub-cortical Infarcts and Encephalopathy, or CADASIL. This rare genetic condition has no cure or effective treatment and is caused by a mutation on the NOTCH 3 or HTRA 1 gene. CADASIL is often characterized by migraines with aura, mental health issues, ischemic episodes, and cognitive impairment. People with CADASIL have a predisposition to stroke at an average age of 40-50, and 70% of them will develop dementia.

CADASIL was once considered a rare condition, but as awareness spreads, more and more people are being diagnosed. It can cause anxiety, depression, migraine, recurring strokes, cognitive difficulties, and vascular dementia. Many families may have a history of these symptoms without realizing they are affected by CADASIL, and may have been misdiagnosed with a condition that has similar symptoms, such as multiple sclerosis.

To support families affected by CADASIL and raise awareness of this devastating disease, CADASIL Support UK was founded in 2017 as a registered charity. If you want to learn more about CADASIL, you can reach out to the charity by emailing [email protected].

When Luan was diagnosed, CADASIL was only found in 400 families worldwide, and only 10% of people with the disease experienced the two CADASIL comas that she had. The outlook for those with CADASIL used to be grim, and the main priority after a diagnosis was to determine its origin and spread. Luan's mother had also suffered from a stroke in her forties and had recurring migraines, and Luan's grandfather and great-grandfather had both died young from heart-related issues. At the request of her neurologist, Luan's mother also underwent a brain scan, which revealed typical CADASIL damage including white matter lesions, lacunar infarcts, and cerebral microbleeds.
Luan and her brother, Russel, were travelling home together on the Tube after a regular day at work in 2003. Luan, who was 32 at the time, started to feel the tell-tale tingling in her fingers and buzzing in her face. These were familiar signs that she was about to have a migraine, something she had been dealing with since her early 20s. She wasn't too worried, as the pain and visual disturbances usually passed after a couple of hours of sleep.

However, this time was different. Luan experienced two days of excruciating head pain, difficulty sleeping, and increasing confusion. Eventually, her brother Julian had to take her to the hospital. While waiting to be seen, Luan's vision suddenly went and she started shaking uncontrollably. She was brought to a side ward where she became semi-conscious and unable to even lift a cup or her arms.

Luan vaguely remembers a doctor suggesting that her blindness was "hysterical" and sensing their frustration at her inconvenience. Her last memory before being taken for an MRI scan was watching the ceiling roll past her. But luckily, Luan was one of the fortunate ones. She woke up five days later to see her mother and brother, Russel, standing over her hospital bed. They had traveled 200 miles to be with her, which made Luan realize that something serious must have happened.

After a series of tests and scans, doctors found extensive white matter lesions on Luan's brain, but they couldn't pinpoint a specific cause or trigger. They attributed the episode to a severe hemiplegic migraine and told Luan that it was just one of those things that sometimes happen. She was relieved to hear that it was highly unlikely to happen again and went back to her normal life, with the occasional migraine with aura being her only concern.

Luan's daughter, Molly, was born in 2008 after a difficult labor that ended in an emergency c-section. Eight days later, Luan found herself back in the hospital with another apparent migraine-induced seizure. She suddenly became confused, unable to use her phone or speak clearly, and knew she needed to go to the hospital. By the time she arrived, she was already convulsing. Her condition worsened, and she was transferred to a hospital with a specialist stroke unit where she stayed for two weeks.

During her time in the hospital, Luan experienced terrifying hallucinations, severe pain in her head, and believed she had even dropped her newborn daughter. It wasn't until she was discharged that she discovered Social Services had been contacted by her partner and brother to investigate if she was suffering from postpartum psychosis or posed a risk to her baby.

After months of follow-up testing, Luan's neurologist finally gave her a diagnosis: Cerebral Autosomal Dominant Arteriopathy with Sub-cortical Infarcts and Encephalopathy, also known as CADASIL. It is a rare genetic condition with no known cure or effective treatment. It is caused by a mutation on the NOTCH 3 gene or, as recently discovered, the HTRA 1 gene. CADASIL is often characterized by migraines with aura, mental health issues, ischemic episodes, and cognitive impairment. People with CADASIL have a genetic predisposition to stroke, with the average age of onset being 40-50. 70% of people with CADASIL also develop dementia.

CADASIL is a genetic condition, which means that it can be passed down from parent to child. Although it was once considered rare, as more people become aware of CADASIL, the number of diagnoses is increasing significantly. It can cause anxiety, depression, recurring strokes, cognitive difficulties, and vascular dementia. Families with a history of these symptoms may have CADASIL without even knowing it and may have been misdiagnosed with a condition that has similar symptoms, such as MS.

In 2017, CADASIL Support UK was founded to help families affected by CADASIL and raise awareness about this devastating genetic disease. If you would like to know more about CADASIL, you can contact the charity by emailing [email protected].

At the time of Luan's diagnosis, CADASIL was believed to be present in only 400 families worldwide. Luan's experience of being in a CADASIL-induced coma twice was also extremely rare, with only 10% of people with the condition ever reporting more than one coma. In the past, the outlook for people with CADASIL was grim, and the main priority was to determine the source of the condition and how it could be managed.

Luan's mother also had a history of strokes and migraines, and her grandfather and great-grandfather both died young from heart-related issues. At the request of Luan's neurologist, her mother underwent a brain scan which revealed typical CADASIL damage: extensive white matter lesions, lacunar infarcts, and cerebral microbleeds.

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