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True-life PATIENT CASEBOOK Not so eas y

But I won’t let my one in 100,000 condition stop me Katy Baker, 22, Banbury breathing

I don’t know what the future holds...

If you take one look at me, you’ll probably think everything is fine. I appear happy and healthy. But, believe it or not, I’m not actually as well as I seem. Because behind my smiley face and positive attitude is a condition that’s affected my life since I was 10 weeks old. Born eight weeks premature, in March 1997, I had the doctors immediately concerned. After being checked over, I was given the all-clear and sent home with my parents six weeks later. But then I got a chest infection. It was so serious that I was admitted to Royal Brompton Hospital –a specialist heart and lung hospital. After multiple scans and blood tests, I was eventually diagnosed. ‘Katy has scimitar syndrome,’ they told my parents. A congenital heart defect affecting the lungs. In my case, it meant I had only one functioning lung. Scimitar syndrome affects only around one in every 100,000 people. There was no research, no treatment available. They couldn’t even give us a prognosis. All they could do was observe me. My life had this big question mark over it. From then on, I was back in hospital every six months. Of course, I knew Making the most of life

no different for many years. But at primary school, it began to bother me. ‘It’s not fair!’ I’d moan aged 6. ‘Why don’t other kids have to go to hospital?’ I hated it if I had to miss a school trip. There were the countless times at high school when I came last in PE. Always breathless. Mum would write notes to get me out of doing cross-country. ‘You can just walk it,’ my teachers said. I desperately wanted to be normal, but no one could give me any help or answers. It took me a long time to accept it. Even now, I still have bad days. But I’m trying to speak out more, and working with Genetic Alliance UK has been a massive help. I know I’m not the only one living with a rare and hidden illness. And I can live a normal life. I graduated, got a job and work nine to five like everyone else. I just wish there was more out there to help me, and others, understand. My lungs function at less than 50%. And that’s not all. I suffer with back pain and anxiety. I hope my story can raise awareness and help to raise funds for life-changing research. Sadly, there was no telling what could happen to me when I got diagnosed. In fact, I still have no prognosis. I just try to make the most of every day. Everyone takes breathing easily for granted. But not me. It’s a daily battle I have to live with. I wanted to be normal but no one could give me any help

More info? For more information about rare conditions like Katy’s, visit geneticalliance.org.uk