“When I was 28, I finally discovered the answer to a mystery that I’d lived with for over 16 years. ‘We think you’ve got Tuberous Sclerosis Complex’ said my kidney specialist.”

“I had just got engaged to the man of my dreams and had found a full-time editing job in London, when this diagnosis hit me. It was a shock but also a relief to find out the link between the various symptoms I’d had since the age of 12.

Unfortunately, my kidney specialist only told me about the negative effects that Tuberous Sclerosis Complex (TSC) could potentially have on my health, without much further information. After hearing the news, I was scared that my fiancée would drop me like a hot potato and run. But he didn’t, and we faced the prospect of finding out more about TSC, together. Two years later, we got married. Now, around 25 years later, he’s still by my side.

During that time, TSC has played a key part in both our lives, in various ways. It has been a rollercoaster at times, but we’re still holding steady thanks to support from medical science, family, friends, and the Tuberous Sclerosis Association (TSA).

When I was diagnosed, information and support for TSC patients was hard to find. Luckily, my sister picked up details about the TSA, and I spoke to Janet Medcalf, one of the founders of the TSA. She helped me understand that I wasn’t alone, and that having TSC wasn’t all doom and gloom.

I’m a first mutation, which means I didn’t inherit TSC from my parents. No one else in my family has it. I’m also ‘mildly affected’ since I wasn’t born with any learning disabilities due to TSC. Instead, my TSC symptoms have developed over time. These include absence mal seizures and red spotty skin on my face that began when I was 12. My other symptoms include ash leaf marks on my arms and small irregular growths on my nails.

Then when I was 16, I was diagnosed with kidney disease, and needed haemodialysis at aged 20. At that time, I was half-way through university. The idea of being tied down by dialysis after I graduated was devastating. However, my 18-year sister was an excellent match as a kidney donor, and I had my first transplant in 1986. My neurologist had also found the right combination of medications to control my seizures. These changes gave me a lot more opportunity to travel, so shortly after my sister graduated from university, we both moved to London to work.

Living with a kidney transplant can be like balancing on a tightrope sometimes. It’s not a cure for kidney disease, and over time, I’ve developed various other healthcare problems associated with the transplant. But my family has always given me a lot of emotional support. The TSA has always provided me with practical information. Since TSC affects each individual differently, the best thing I did was speak to specialist doctors recommended by the TSA, who could answer some of my questions about how it could affect me.

Besides close friends, I was very guarded about discussing TSC because it’s a complex condition to live with, let alone explain. However, I also joined the TSA Outlook group, shortly after it was set up, for adults mildly affected with TSC. This gave me a great chance to make new friends. I found I could be myself with other Outlook members, who just accepted me for who I was. That really helped boost my confidence.

Ten years after my first transplant, my sister’s kidney declined, and I was facing dialysis again in 1996. However, I was lucky enough to get a second kidney transplant from a deceased organ donor. Only 3% of people on dialysis are fertile enough to have children. So after the transplant, my husband and decided to try for a baby. However, like other TSC couples, we had a 50% chance of passing on the TSC gene to our children. So, we had a genetic test when I was 16 weeks pregnant to see if our unborn child had the same TSC mutation that I did.

It was a tense time as we waited to find out the truth. But we were overjoyed to hear that the foetus didn’t have the TSC gene. I had a healthy son by caesarean section. That was 17 years ago, and this year our son is studying for his A levels. I always say he’s the best negative thing that’s ever happened to me.

However, in 2004, I needed a third transplant, and my 68-year old father insisted he wanted to give me his kidney, but he needed to lose weight to do this. My younger sister encouraged him to diet and get fit, and together they ran the London Marathon to raise money for the TSA. Sadly, my father passed away in 2018 from a condition unrelated to organ donation. However, after 16 years his kidney is still pumping away in me.

In January 2018, I was diagnosed with myeloma, a type of blood cancer, which doctors spotted early through a routine blood test. My myeloma probably developed due to all the anti-rejection medications I’ve taken, which have lowered my immune system. I was shocked to hear the ‘C’ word. But thanks to some intensive chemotherapy and patient care at University College Hospital in London, I was in remission a year later. Myeloma can’t be cured but it can now be managed with new medications to keep it in remission. I consider myself to be a cancer survivor, which helps me see things differently now.

Being active in the TSA, I’ve learnt to put things in perspective because there’s always someone who’s facing more challenges than me. I’ve made some fantastic friends through Outlook, and I’ve become a lot more confident in myself. I’ve got a disability card due to my epilepsy, but I’d never classify myself as disabled.

I may have TSC, but TSC definitely doesn’t have me.”

– Karen L