goto homepage

On Friday 28 February, the team from the Rare Diseases Centre at QEHB celebrated Rare Diseases Day with an awareness stand in the atrium.

The Centre, located in the Heritage Building, provides a one-stop service where patients can undergo pre-planned diagnostic tests and see all relevant specialists and the multi-disciplinary team in a single visit.

Bringing together experts across multiple specialties, the team is committed to developing and implementing pioneering treatments, technologies, and techniques for rare diseases.

Since opening in 2015, the Centre has grown to run over 100 different clinics, with more than 1000 appointments taking place each month, both in person and virtually. Among these is the Bardet-Biedl syndrome (BBS) clinic.

BBS is a rare, genetic disorder, which affects approximately 1 in 100,000 babies born. Some features include rod-cone dystrophy (a progressive eye disorder that leads to blindness), renal abnormalities, obesity, developmental delay and speech and language difficulties.

To help raise awareness, one of the Centre’s patients, Aneeba, joined the team at the stand to speak with visitors throughout the day. Diagnosed with BBS in infancy, Aneeba has been attending the annual BBS clinic at the Centre since 2017.

Reflecting on her experience, Aneeba said: “The care has been fantastic. Not only do I get to see everybody at a one-stop clinic, but I also get support outside of it when the staff give me a call to see how things are going.

“Living with a rare disease isn’t that bad if you have the right support and know where people are when you need them. I hope one day there will be a rare disease centre in every country, because the belief in my family is, ‘special is not about being special, special is getting the support that that person needs in life.’”

Kellyanne Goodwin, Senior Sister for the Rare Diseases Centre, said: “Rare Disease Day provides an opportunity to raise awareness, highlight the challenges faced by those living with rare conditions, and celebrate the progress being made in research and treatment.

“Our Rare Diseases Centre is a vital resource for patients and families, providing not just specialist care but also a sense of community and support. It’s inspiring to see the impact our services have on patients like Aneeba – her story shows why centres like ours are so important. By bringing together experts and offering a one-stop service, we can make a real difference in the lives of those with rare diseases.”

The team also marked the occasion with celebrations in the department, offering cakes to patients attending clinics throughout the day.