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Rare Disease Take #2

Hi I’m Katy, 26 years old living in Oxford. I have 2 chronic illnesses and they are both actually classed as rare diseases. They are very different and have taught me many life lessons.

Just 10 weeks old...

My first rare disease began when I was 10 weeks old. I caught a chest infection and my mum and dad took me to the local hospital. The doctors found something wrong so I was taken to a specialist heart and lung hospital in London. Doctors carried out many tests and found that I had Scimitar Syndrome, a rare congenital heart defect and only 1 working lung. Due to being born with this condition, I have never known any differently but of course, there have been challenges with it. I have regular lung function tests, consultations with my respiratory doctor and cardiology appointments when needed. I do experience symptoms but mostly know my limits and I feel that my body has adapted to it. It is in my mind a lot and I do think about it because it is a big part of my life, and it's something that I don’t really have much control over.

Chronic illness number #2

I feel very fortunate for my second chronic illness, Antiphospholipid Syndrome because I was diagnosed as quickly compared to many others. In May 2022, I had a pulmonary embolism, a blood clot with started in my leg and then travelled into my right lung. It came completely out of the blue and I did not have any risk factors of getting a blood clot. I was lucky to have blood tests just a few months after the blood clot and it got followed up promptly. By February 2023, I was diagnosed with APS. I am now on warfarin for the rest of my life and have to monitor my INR frequently. This started off with nearly daily blood tests for 3 months, I then brought a self-test machine so now I have more independence and control over my condition. Having a pulmonary embolism was a huge shock and I have now know what it is like to have a congenital and acquired chronic illness.

Navigating 2 rare diseases are hard especially Scimitar Syndrome because that condition only affects 1 in 100,000 people so not many people and professionals have heard of it. You have to be your own advocate.

Mental health

With physical health, comes mental health and having chronic illness has taught me that illness is so much more than a physical diagnosis. It is the trauma you experience in hospital, the affect it has on friendships, employment, accessibility, judgement from others, mental and and more. Having health conditions has massively affected my mental health. It has caused anxiety, depression, traits of PTSD and although I am so much better now, I know that it is my physical health that is my mental health trigger. It isn’t unusual for physical health to affect a person’s mental health, it is a situation we don’t have control over, it can affect our day to day lives and make us miss out on different things that we want to do to have a ‘normal’ life.


We often here stories of negative experiences with medical professionals or in medical settings but I have been lucky enough to have some standout moments to and this is what makes patients trust medical professionals. I will always be grateful to these doctors and nurses.

More from Katy coming soon...!


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