My name is Leah Bos. I am 31 years-old. I live in Hamilton, New Zealand. I am a TSC individual who would like to share my journey with you thus far. I am the youngest of three children and I am the only child affected with Tuberous Sclerosis.

At a tender age of 15 months I had a febrile convulsion and was taken to the doctor. At the doctor’s clinic the paediatrician noticed a white cloud on my thigh. It was then that tests were done to diagnose me with TSC.

I suffered quite a few seizures as a toddler; I was given medicine to stop seizures in case the grand mal seizures continued. At this stage of my life there weren’t any other noticeable physical symptoms of TSC. As I grew older these seizures had disappeared, right up until I went through puberty.

At the age of eight the appearance of angiofibromas had started to show on my nose, cheeks and chin. Forehead plagues were apparent now. I had the shagreen patches on my trunk and hips. It was hard to explain to children my own age, let alone understand myself how to explain the condition to others. Kids did not understand and they used my condition to bully and tease me. I often got called “pimple face” and that I had “AIDS”. These childhood memories became a trauma to me and I was very vulnerable, often distant, and lacked confidence. I was well below my reading and writing level and I needed extra special care to get up to speed.

During adolescence I struggled to find self esteem and to even accept who I was. I was hoping to wake up and this condition would be gone. During high school years I would often shy away from going out with friends. I had developed my own “safe place” away from the world. I often write my feelings and escape by making my own fictional stories or poetry. I have a very caring family and had a small handful of close friends. I, however, did not see what they saw in me as a beautiful person. I struggled to be my own friend, more my worst enemy. I often kept my feelings close to my chest.

In high school I struggled with learning. I had concentration issues, mood swings, was very sensitive to people, and had mild depression. I was not very academic at all. I found practical tasks easier to understand and learn from than theory. Through this stage of my life I felt very alone and that no one understood what I was going through.

It wasn’t until my twenties that I had a renal bleed and discovered that I had AMLs in both my kidneys. The largest tumour was 8 cm and many more were growing. I have been for annual check-ups at Waikato Hospital to make sure they were stable or to be embolised. It wasn’t until 2010 that I needed to find some kind of relief from the pain and sought information on the internet about Tuberous Sclerosis. I stumbled on a support group on Facebook called The Voices of Tuberous Sclerosis. It was an American group but anyone was welcome to join. There were hundreds of people just like me, some worse affected. I found myself grateful. Reading articles about their journeys and how they and their families helped each other inspired me. I gained a close bond with a woman named Kelly. She was from California. I wanted to meet her for my 30th birthday. I flew from New Zealand to America to spend some days with her. It was an overwhelming experience for us. Both of us had never met another individual with TSC. This gathering inspired another individual called Brent, who drove all the way from Utah to California to join in our celebrations. It was a day I won’t forget. I felt complete.

I went home feeling enlightened and I knew my purpose. I wanted to help other people understand this condition and offer whatever help I could to families by talking about what experiences I went through. I posted a YouTube clip and it was a success. People were mailing me their stories I felt fulfilled.

I found ATSS (now Tuberous Sclerosis Australia and Tuberous Sclerosis Complex New Zealand) and other New Zealand families. It was through ATSS that I discovered Tuberous Sclerosis Global Awareness day on 13 May. Some New Zealand families wanted to have a picnic to celebrate this to bring together children and parents so they could share their stories with others. I participated in the picnic on 19 May 2013. It was here that I met an individual who had found through his dermatologist/pharmacist a facial topical cream made with Sirolimus. I was eager to want to try it.

I was pointed in the right direction to a doctor in Tauranga. I began the trial in June 2013. The results started showing by the first three months. It had reduced the redness in the angiofibromas and there was some shrinkage in the bumps. I still have raised bumps but my appearance isn’t as bold in redness. This boasted my self esteem and I can’t believe how lucky I was. Unfortunately the cream was seen as cosmetic rather than life threatening so it was an expensive treatment. It was well worth every cent.

I am determined to keep searching and looking for further breakthroughs for this health condition. New Zealand doesn’t have a specialised clinic and I hope one day we will and have better access and information to new treatments here that are affordable.

Leah and Kelly
Leah and Kelly

 

Before Sirolimus treatment
Before Sirolimus treatment
Three months into Sirolimus trial
Three months into Sirolimus trial