Neuro Bechets — The Unknown Disease

When Victoria (Vixi) was diagnosed at just 15 years old with Behçet’s Disease, everything we thought we knew about her health changed. Behçet’s is a rare, complex inflammatory disorder that most doctors have never seen in their careers. But long before her diagnosis, her symptoms were already shaping her life.

Early Signs No One Could Explain

Since she was little, Vixi struggled with painful mouth ulcers. We were given many explanations such as stress, vitamin deficiencies, or allergies even though every test came back negative. When she hit puberty, the ulcers became unbearable. Some days she could only manage a liquid diet because the sores spread down her throat.

She also had what we assumed was acne, but later learned were papulopustular lesions, erythema nodosum-like lesions, and pseudofolliculitis, all signs of Behçet’s.

In November 2016, at age 15, the ulcers became so severe she could not swallow her own saliva and was hospitalised with dehydration. A dermatologist recognised the seriousness and referred us to a rheumatologist who finally diagnosed her.

One of the telling signs was that mosquito bites on her skin swelled to the size of a teacup saucer.

She also frequently developed encephalitis and meningitis, causing extreme headaches and vision problems, which are also common in Behçet’s.

Years of Treatment and Pain

She tried many treatments with little success. Her sister, who also lives with a rare disease and is part of RDSA, had an excellent doctor, and we eventually reached out. By then, things were so bad that even taking a shower hurt.Water touching her skin made it feel like it was on fire and left it swollen and red.

She was eventually placed on Cyclosporin and Infliximab, which helped control her symptoms for a while.

When Everything Changed in 2025

In the middle of 2025, her condition worsened dramatically.

She became clumsy, walking into things, tripping, falling, and sometimes unable to get back up. Her memory began to fail, and she forgot simple words or daily routines.

Her speech changed, and she began sounding drunk.

Then came ataxia, where she lost control of her movements. At times it looked like she was having seizures.

I watched my brilliant, bubbly, academically gifted daughter slip away in front of me.

Her doctors, once hopeful, now seemed unsure. One rheumatologist dismissed her after 15 minutes. Another admitted she could not manage the case. The neurologist said he had only ever heard of Neuro-Behçet’s in a conference presentation and did not know what to do.

They ordered MRIs and EEGs, but no one could give us answers.

As a healthcare professional and medical researcher, I noticed something on her MRI. The neurologist brushed it off as incidental. I disagreed. It is incidental only in elderly patients or those with hypertension. She is neither, and the symptoms aligned.

She also has Ehlers-Danlos Syndrome, which added complications. Eventually she lost her job because of her illness.

My once high-achieving daughter, who graduated cum laude, who loved reading and crocheting, and who socialised with ease, was now hiding in her room, embarrassed and defeated.

Finding the Specialist Who Saved Her Life

With no answers in sight, I did the only thing I knew to do. I researched relentlessly.

I searched the world for the leading expert in Neuro-Behçet’s. I studied his publications and reputation. He referred us to a professor in Johannesburg whom he trusted.

We saw him on her 25th birthday.

I asked him about the MRI finding. He looked and said, “You’re right. This is linked to Neuro-Behçet’s.”

I asked if it could be reversed.

He said, “I think it can.”

She cried, saying it was the best birthday gift she had ever received. He told her he would not give up unless she did.

The Turning Point

She could not take her usual treatment before being admitted, because he planned to start a new one. By the time she was admitted, she had ulcers all over her body. Some were so deep you could place a finger inside. Even sweating caused pain.

He said she was the worst case he had seen locally and internationally, but he was prepared to take on the challenge.

He began a new treatment plan, and now she is walking and speaking again. She still struggles, but the improvement is remarkable. Her sores are healing, and we will manage the scarring.

We are deeply grateful to her new doctor for giving her hope and giving her life back.

What Equity Means in Our Story

For us, equity means fair access.

I happened to be in the healthcare field and knew how to research, question, and advocate. It is not fair to parents who don’t have that advantage.

Equity means:

• Doctors should not dismiss symptoms because they seem too complex.

• Families should not have to look outside the country for help.

• No one should lose their job because of a rare disease they cannot control.

• Mental health should be treated with the same seriousness as physical problems.

Day-to-Day Life Now

Daily life is still difficult.

• Her hands tremble, so she cannot crochet.

• Headaches affect her vision and make reading hard.

• She uses makeup to hide sores and hopes they will not scar.

• Strong opioids manage her pain but affect her functioning.

People stare, judge, and assume carelessness or laziness without knowing the truth.

Hope and Strength

This new professor has given us hope. His dedication and compassion have made a world of difference. He checks in often and treats her with genuine care.

As a family who has faced rare diseases before, we continue to stand together and fight.

What We Want Others to Understand About Rare Diseases

Do not judge what you do not understand.

• That “acne” might be Behçet’s lesions.

• A clumsy person might be struggling with neurological damage.

• Someone who looks unwell may be in too much pain to care for themselves.

• Invisible illnesses are still real.

Everyone facing a rare disease deserves kindness, patience, and understanding.