Why patients with rare diseases need to be proactive and ask questions

Published on Sep 14, 2018
Authored by Pfizer Medical Team

The main lesson is to be proactive and to ask questions

Patient advocate Malini Raj had been unwell for 18 years before she eventually found out what was wrong with her.

She had seen many specialists and had received several false diagnoses before doctors coincidentally discovered during an insurance assessment that she had the rare and potentially debilitating Cushing’s syndrome.

“I was very excited because I felt I had something with a name and I felt that I would be cured,” she told Pfizer’s Chief Medical Officer Dr. Freda Lewis-Hall during the latter’s recent visit to Australia.

She describes the uncertainty of not knowing what was wrong with her for all those years as “challenging and frustrating”.

Even the prospect of brain surgery did not limit her enthusiasm, “I was actually excited for my surgery as I thought it could fix me. Unfortunately, the surgery was unsuccessful.”

Since that letdown, Malini has focused on owning her own health journey and on helping others.

She works full-time but devotes as much time and energy as she can muster to two demanding volunteer positions. One is as executive member with the Australian Pituitary Foundation and the other is as the sole southern hemisphere representative on the World Alliance of Pituitary Organisations.

Take control of your own journey

The lesson of everything she has been through is to be proactive in managing your health.

Don’t be afraid to ask questions or do your own research, she says. There is a lot of information out there, and doctors don’t always know all the answers about rare diseases because they have to deal with many different ailments.

When doing research, knowing where to get quality health information is important. The internet is fantastic as it places so much health information at our fingertips. However the information can even be incorrect, outdated or potentially harmful.

Malini is keen to share her knowledge. That is why she is an active executive member of the Pituitary Foundation.

“I don’t want other people to go through the same journey as me… so I thought why not turn it into a positive and try to make a difference.”

Seek support from fellow patients

She says the foundation offers a good support network. It shares information and helps connect patients with each other.

Doctors don’t always understand the day-to-day challenges patients face, so talking to people who have gone through the process can help people make the right decisions and ask the right questions.

“I think it’s always good for patients and also the carers to have that network of support to feel that you’re not alone,” says Malini.

As a first step, you can visit Rare Voices Australia or New Zealand Organisation for Rare Disorders to find a Rare Disease Patient Organisation suited for you.

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