1 in 17 people in Ireland live with a rare disease ...and I am one of them

AUSRA Buinauskaite is pretty sure she’s been sick since she was a small child.

“I was always complaining. I had terrible pains in my joints and spent a lot of time in and out of hospital with various issues with my liver and my spleen,” she recalls. “Doctors would ask questions and wonder about the symptoms, but they never got close to diagnosing me.”

Ausra certainly doesn’t come across as somebody who would complain often or easily; she is upbeat and positive about what many of us might dread to imagine.

I am Number 17

Cork-based Ausra is discussing her role as one of 17 ‘Changemakers’ who have chosen to be involved in the ‘I am Number 17’ campaign. The intention is to raise awareness about rare diseases and to provide support to others in similar situations.

Launched in Dublin last Wednesday, the title reflects the fact that 1 in 17 people in Ireland is living with a rare disease. This is a considerable number, amounting to roughly 300,000 people. But the campaign hopes to get behind the statistics, spotlighting and celebrating the lived experiences of those people with these rare diseases, putting recognisable faces to the numbers.

Ausra Buinauskaite, one of the 17, is a wonderful spokesperson for the campaign, exuding empathy and strength.

“I was finally diagnosed about 12 years ago, when I was 28. For the most part I was relieved. I knew there was something wrong with me and I was very happy to find out what it was, rather than living my life in the dark.

“But it was also scary. I had a lot of questions about what the diagnosis would mean.”

Originally from Lithuania, Ausra is endlessly grateful to her doctor here, who also noticed her symptoms but kept on digging, and digging, until eventually diagnosing the young woman with Gaucher disease, a rare genetic condition.

Unsurprisingly, her doctor’s perseverance was matched by her own. She was pregnant with one of her three children when she flew back to Lithuania to pick up her extensive medical files, so her doctor here could start to put the pieces of the jigsaw together - and Ausra could finally get the full story and start living the rest of her life.

My doctor ran so many tests and I am so grateful to her because by that stage my bones were getting really fragile. If I hadn’t been diagnosed when I was, I would say I’d be in a wheelchair by now.

“Once I knew my condition, I was able to do lots of research and figured out that exercise could help strengthen my bones. Knowing my disease helped change my life.”

Ausra took that research and knowledge and literally ran with it. She is now a qualified personal trainer, working with other women in her local gym.

“Everyone finds their way to deal with things. Exercise is my therapy. It also helps me to build muscle and that strengthen my bones. I have the right lifestyle and with my medication, I have a far better standard of living.”

Twelve years since her diagnosis, Ausra is now 40, but she feels stronger than she ever did in her twenties, without the constant pain and the issues with her organs.

Despite the challenges of living with a rare disease, Ausra has remained mentally strong and determined, successfully juggling her role as a mother with her job as a personal trainer whilst managing her condition with regular treatment.

She finds great inspiration working with others to achieve their goals.

“I work with people with various conditions. People come in with different problems like knee injuries for instance, and I help them, or I just help people with their basic fitness; everyone has their own goals. 

For some it’s to do with weight, for others it’s about their mental health. It’s all important.

“I think it helps to have my background because I find it easy to empathise with people. I understand where they might be coming from.”

It is not all plain-sailing for Ausra and she still suffers from her symptoms, but she is far better off than before, and knows better how to care for herself.

“I listen to my body. We should all listen when our body wants us to take a step back, but it’s important for us to keep our bodies moving as we can get lazy so easily. I went through that too. It is so hard when you get down, to lift yourself back out of it.”

Her children provide the greatest motivation for Ausra to keep going. Aged between 10 and 19, they continue to be her main inspiration.

“I do it for my kids. Like every mother, I get up and do my best, and I do my best to stay healthy for them.

Lessons Learned

“My message to people is to trust your body. If something is bothering you, go and get it checked. 

People didn’t dig deep enough for me, but once I was diagnosed things got better. We must advocate for ourselves and not push any symptoms aside.

Ausra believes it is important that people get things checked, so that they can sleep easy.

“Even if you need to go private, do it. There is nothing more important than your health. And don’t panic either. There will always be hope.”

Ausra says that she is still very slow to complain.

“I do my best to take some good from the bad. I lift my head up high. I have a great life carrying out my motherly duties. I am grateful for small things and try not to focus too much on bigger issues.”

Ausra hopes that sharing her story can help newly-diagnosed individuals understand that they can lead a normal life, have children, work, and pursue their passions.

Her hope for anyone living with a rare disease in Ireland is that they understand that although the diagnosis can be scary, they can learn, adapt, and continue to function as best they can. When asked to describe her experience of living with a rare disease in four words she chose: Empowered, Confident, Resilient and Driven. Her story reflects all four.

Launching The Campaign

Rare Diseases Ireland (RDI), Rare Ireland, and Takeda Ireland are working together on the ‘I am Number 17’ campaign, launched by Minister for Health Stephen Donnelly at CHQ in Dublin.

The launch also includes the unveiling of an exhibition of photography by Julien Behal of the 17 Changemakers who have chosen to share their lived experience of rare disease, including Ausra. The 17 Changemakers represent the diversity of the rare disease community in Ireland across age groups, diseases, ethnicities and regions.

Ausra finds herself in like-minded company in the exhibition, and is joined by another Cork changemaker, Joanne O Riordan.

Joanne first gained attention for skipping school to confront Taoiseach Enda Kenny about his proposed plan to reduce disability funding during his election campaign in 2011. She has been vocal about disability rights on the national and international stage ever since.

Joanne has described her experience of living with a rare disease as ‘challenging,’ ‘motivating,’ ‘empowering’, and also chose the word ‘defiant’. Much like Ausra, and no doubt like the other 15, she is both a changemaker and an inspiration for us all.