Braving all odds: Here's how Pune-based doctors cured man of a rare disease
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Braving all odds: Here's how Pune-based doctors cured man of a rare disease

This disease is neither genetic nor infectious, but high antibody titre commonly occurred in type 1 diabetic patients.

Life came to a standstill for this 46-year-old man for who even basic activities such as walking and talking became difficult. After a battery of tests, he was diagnosed with a rare illness called Anti-GAD-65 antibody-mediated cerebellar ataxia.

This rare disease, though not life-threatening, has the potential to hamper the day-to-day functioning of a patient. The illness is so rare that its true incidence is difficult to assess, and doctors mentioned that it might be one in the 100 lakh population. However, it is vital to diagnose as a treatment for this illness is available.

Parmeshwar Lamjane, hailing from Daund, said, "Since the last three years, I had taken treatment from many doctors. But I did not have any recovery, rather things were worsening with each passing day. I even left my job as I was unable to walk, talk, and my vision got blurred."

Dr Lomesh Bhirud, the neurologist from Ruby Hall Clinic, who worked on this case, said, "It is an auto-immune disease where the immune system attacks your own body. In this particular case, the antibodies attacked the cerebellar neurons, so as to cause cerebellar ataxia. We classify this illness as an auto-immune neurological disease."

But with proper medication, the disease is curable in earlier stages. Diagnosis in the initial stages plays a key role because, in the advanced stage, the treatment may not be as effective.

"We conducted various blood tests, MRI scan of the brain, whole-body PET scan to identify any cancer focus in the body which could also lead to ataxia in this age group of patients. However, the tests remained inconclusive," the neurologist further added. "Then, we decided to escalate our diagnostic panel, which includes an Anti-GAD 65 antibody test in blood and in CSF (Fluid around the brain), and we found there were very high Anti-GAD 65 antibody titres in both blood and CSF," he stated, finally confirming the diagnosis of Anti-GAD 65 Antibody-mediated cerebellar ataxia.

This disease is neither genetic nor infectious, but high antibody titre commonly occurred in type 1 diabetic patients.

Apart from cerebellar ataxia, another sign of this antibody-mediated illness is stiffness in the back, limbs — or the entire body — and occasional seizures.

The treatment includes immunosuppressants and injectable IV immunoglobulin (IV IG). This medication contains antibodies that bind hazardous antibodies in the body and clears them from circulation. It then slowly improves the patient's health. The maximum recovery would take anywhere between two to three months.

Post one month of the treatment, Lamjane said, "I can walk without any support now. There is an 80 per cent recovery in my ability to talk fluently. My vision has also improved significantly."

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