Pune : KEM Hospital, Pune recently organised their annual meeting of Wilson Disease patients and their parents on Wednesday. The main aim was to create awareness about the management of this uncommon genetic disease and imbibe the importance of regular monitoring and treatment. Around 100 people including patients and their parents participated in this support group meeting.
Dr. Ashish Bavdekar, Director, Paediatrics and Consultant Paediatric Gastroenterologist, Dr Snehawardhan Pandey, Paediatric Transplant Physician, Dr. Dhairashil Saste, Neurologist, Dr.Jyoti Singhal, Paediatric Nephrologist and Smita Kokitkar, Clinical Nutritionist interacted with the patients and their parents on various topics including overview and general information on Wilson Disease, renal issues, liver issues, liver transplant, genetics, diet, counselling etc .
Experts opined that regular monitoring of patients with Wilson Disease along with early diagnosis and compliance with treatment is the key to the normal future of these children.
Wilson disease is caused by mutations in the ATP7B gene, which is responsible for transporting copper out of the liver and into the bile ducts for excretion. These mutations cause increased accumulation of copper in liver and other organs of the body like brain, kidneys, and cornea. In due course it may progress to neurological dysfunction, liver cirrhosis or renal dysfunction. It is fatal if not diagnosed early and treated appropriately. .
Initially parents of children diagnosed with Wilson Disease have a lot of questions and concerns in their mind about the life expentancy, quality of the child’s life, medications etc . Many find it hard to come to terms that their child has a rare disease. Therefore it is necessary to counsel them and make them aware of the management of Wilson Disease so that their child can lead a normal life and realise their aspirations.
The program was moderated by Dr. Ashish Bavdekar while Mahendra Hoge, Medical Social Worker at KEM Hospital, Pune proposed the vote of thanks.
Dr.Rakesh Shah, COO, KEM Hospital, Pune said that the annual patient meet is an important platform for sharing experiences, information, continued guidance from experts ultimately enhancing patient engagement and improving healthcare outcomes. Through this initiative we want to reassure our patients that they are not alone in their journey and we stand united in the fight against these diseases
