Aditya Tiwari (12) was hospitalised with acute stomach pain in early 2005. Fluid had accumulated in his abdominal cavity due to liver damage. After treatment, Aditya was fine and all was forgotten.
Soon after, the otherwise disciplined student started landing in trouble at school. “One day he would punch a classmate, another day he would run out during a lecture,” said his father Manoj, a salesman.
In 2007, Aditya failed his Class 5 examination. By 2008, his hands used to shake uncontrollably and he had difficulty in talking coherently. Manoj took Aditya to five doctors, including a physician, a paediatrician and a neurologist, but no one could figure out the cause.
It was only in February 2009, four years after the first symptom, that Aditya was diagnosed with Wilson Disease (WD), a genetic disorder characterised by liver disease and various neuro-psychiatric symptoms.
Javed Ahmed (27) and Prachi Bhagat (19, name changed) had also endured a lot before being diagnosed with WD. Ahmed was taken to several witch-doctors while a psychiatrist had put Bhagat on anti-anxiety drugs for a year.
These are not isolated cases. Since WD manifests differently in every patient, it is extremely difficult to diagnose. Patients go to an average of six doctors before they are diagnosed correctly, according to a study conducted by city doctors.
“This leads to at least two years delay in initiation of treatment,” said neurologist Dr Annu Aggarwal, who conducted the study with Dr Mohit Bhatt and other colleagues.
The doctors had interviewed 30 patients from 23 families for the study. Eight children from these families had died of WD because of delayed diagnosis.
The research team also devised a scale — the Global Assessment Scale — to assess the extent of disability caused by the WD and track the patient's progress. A research paper on the study and scale was published in the international journal, Movement Disorders, in March 2009.
Based on their experiences, the specialists have started a special clinic for diagnosis and treatment of WD at Kokilaben Dhirubhai Hospital in Andheri.
The clinic will be formally launched in the first week of May.
“WD is fatal if untreated. But with proper treatment one can lead a normal life. Through this clinic, we hope to ensure that no patient is misdiagnosed or offered incorrect treatment,” said Dr Bhatt.
He added that they apply the new scale the moment a patient is diagnosed. The patient is given scores under various categories like speech difficulties and behaviour. “Since the disease affects multiple systems in the body, it is difficult to record changes. The scale helps us do that and give appropriate treatment,” said Dr Aggarwal.
Ahmed has gone from having a score of 33 (severe disabilities) in 2006 to a near-normal four.
Delay in diagnosis has caused so much damage that Ahmed was bed-ridden, mute and almost unconscious for two years. “I recovered slowly with treatment. One day my brother asked me the date. I said December 31, 2007. It was actually 2009. I lost two years of my life,” said the Kurla resident, who has been working as a trainee at a software company for two months.