#TSA40stories – ‘Me, my sisters and TSC’

What impact did your sister’s diagnosis have on you as a child? 

I remember being very shocked and upset when I first heard the news. For a few months, Katie had been suffering with frequent headaches accompanied by nausea and vomiting. One day during a routine eye test, the optician told mum that he had seen something called Papilledema during Katie’s eye test. This means that the optic nerves behind her eyes were swollen, due to some sort of pressure in her brain. He said that mum should take Katie straight to the GP, so they made an emergency appointment that day. At this point, I didn’t really know what was going on. 

I remember being sent with my younger sister Emma to stay with some friends close to home, while mum and dad took Katie to the hospital for some scans. I remember getting a phone call from mum, to tell me that the doctors had found a 4cm by 3cm tumour in Katie’s brain. I was in complete shock – this was the last thing I expected to hear. The tumour was in the fourth ventricle and was blocking the flow of spinal fluid. Mum told me that it had to be removed as soon as possible and they wouldn’t be coming home for some time. I don’t remember much after this, only that Emma and I had to go back to school as normal. 

I do remember getting a phone call from dad on the day of Katie’s surgery, to say that Katie had just come out and was in intensive care. I remember feeling relieved but also so upset – I still couldn’t really believe what was going on. After a few weeks, they diagnosed Katie with Tuberous Sclerosis Complex. Like many other people, I had never heard of this condition. As I’ve always had a strong interest in science especially medical biology, I thought I would Google it. I wanted to know as much as possible about TS.  

What impact does it have on you now? 

Obviously now, I have thoroughly come to terms with Katie’s condition. As she isn’t that severely affected, most of the time I forget that there is even anything going on. I don’t really worry about her on a day-to-day basis because I know that if there is anything remotely wrong then the doctors will pick it up in good time; and she’ll receive the best treatment. She goes for appointments every few months – scans, blood tests and consultations so I know she is being well looked after.   

How would you describe your relationship with your sibling with TS? 

I have an amazing relationship with both my sisters. Katie is now 20 and Emma is 18. We are all so close and always have been, and we are used to doing everything together. Now that I have moved to Surrey I don’t get to see an awful lot of either of them, and I miss them lots, but we still text and call every week to catch up. I try to go back home to Wales every month or so to see them, but only for a few days.  

Katie and I are both so busy at the moment; myself with my work for the TSA and Katie with her university studies. 

Before Katie went to university, I was a bit worried that she would struggle not living at home and I know that Katie was worried about making new friends, something she doesn’t think she is very good at. I remember telling her that university is different to school –  it’s a fresh start, everyone is in the same boat and is looking to make new friends so it will be much easier. And most importantly – she should just be herself. 

Katie is now in her third year of university, and has moved into a house with some of her friends. She is a part of the archery society, which she thoroughly enjoys. I love to hear all about what she’s been up to. She has completely exceeded expectations and I’m so proud of how well she is doing at university both socially and academically.  

Katie is a bubbly, happy person. She makes me laugh a lot and we spend a large amount of our time annoying mum and Emma! She’s sweet, kind and honest and I feel so lucky to have her as a sister. I know Emma feels the same. Sometimes I do get annoyed with Katie because she tends to worry lots about situations that don’t need worrying about. 

She can also be quite indecisive, usually with simple things like what to wear or where to go for food and what to eat. She doesn’t always have a very good concept of time either, so things are usually left last minute which stresses her out and she can get quite upset. It’s hard to stay patient sometimes, and we end up bickering but I wouldn’t change her for the world.    

What was your worst day ever? 

My worst day was probably when I was told that Katie would have to go to hospital for more surgery. Her brain tumour – which Katie had nicknamed Boris – had grown back. It had also grown a cyst, which was pressing on Katie’s pituitary gland. Although the surgeons managed to remove both the tumour and the cyst, Katie was not quite right when she came around from her anaesthetic. 

After a couple of days, she became completely unresponsive and was only coming around to vomit. This was horrible to see, and we were all so worried about her. She then went in for more surgery to remove a build-up of spinal fluid that they thought could be causing her symptoms. This was probably the most worried I had been; because the surgery was classed as an emergency procedure, they did not have enough time to explain to the surgeons that Katie didn’t want her hair to be shaved. I had told Katie that if she ever had to have her hair shaved then I would shave mine too. Thankfully, they managed to perform the procedure without removing any hair. I was so relieved!  

A few weeks later, Katie came home. Although I was so happy, we were all still concerned that she had a slight fever. That night Katie was experiencing severe back pain, so we rushed her back up to A&E in Cardiff. I remember waiting all night to be seen, holding Katie’s hand while she was asleep on the bed. I was so exhausted and worried. Two lumbar punctures and a few days later, they diagnosed Katie with meningitis. Although I was upset that she had to spend even more time in hospital, I was relieved that they had found out what was causing her pain. 

And what has been your best, to date? 

I can’t say that I have a favourite day! I have so many amazing memories with Katie.  As it’s Emma’s birthday in September, we will all be going for a spa day and a meal out which I am super excited for. We love to do things together – especially going for walks. One of our favourite places is Llyn Llech Owain near Carmarthen. We went for a picnic there not long ago, on one of the rare occasions it wasn’t raining in Wales. We packed lots of food and took our little dog Pippin with us. 

We walked around the lake and got a bit lost. Another day that stands out recently was when Katie and Emma came down to visit me in Surrey. On the Sunday, the three of us went to ‘The Dabbling Duck’ in a lovely little village called Shere. We drank hot chocolates with lots of marshmallows and then went for a stroll to look around all the little shops.   

Any advice to others in the same position? 

I think one of the most important things to remember is to always be patient. It can be difficult sometimes and easy to forget what your sibling is going through and has been through. It is also important to look after yourself and to talk to someone about how you are feeling. The only way you can help your sibling and be there for them is if you are happy in yourself. I am thankful that I have such wonderfully supportive family and friends, within and outside the TSA; who I know I can talk to about my feelings. 

I know that Katie feels the same, and we often speak about things that are getting her down or causing her worry. I found that taking an interest in TS and learning as much as I could about the condition helped me cope with what was going on, especially when I was younger. The TSA has so much information about TS and there are so many events you can go to, where you can meet people in similar situations. I think that the best thing to do is be positive and make the best you can out of a bad situation, especially one that is out of your control; because no matter what – things do get better.  

Why have you chosen to work for the TSA now?   

Because Katie has TS, I have always wanted to be a part of the charity. In 2014, I arranged work experience at the Cancer and Genetics Building in Cardiff to help with some research into TSC with Dr Kayleigh Dodd and Dr Any Tee. This was so interesting and I even wrote a blog based on my time in the lab, which was put up on the TSA’s website. 

I went there again for some more work experience for one of my modules at university. I chose to study BSc Genetics at Aberystwyth. I have always had a strong interest in medical biology, but was unsure which specific course to choose. After Katie was diagnosed with TS I decided that genetics would be the best option for me, as I not only was fascinated by TS but I found other genetic conditions and cancers highly interesting. During my time at university I also presented a few talks on TS, Everolimus and the ‘fight for treatment’ campaign to my fellow students. 

After leaving university, I acquired a job at the Bowel Cancer Screening Programme in Guildford. Although this was an interesting and worthwhile line of work; as soon as I saw that the TSA were advertising an internship as a Research Grants Assistant, I absolutely couldn’t miss the opportunity. I hope to stay with the TSA for as long as I can. It’s an amazing charity, and I am so motivated to do my best and contribute to provide the best research possible for TS sufferers and their families.