Our Stories

Leah: My Story Thus Far

My name is Leah Bos. I am 33 years-old. I live in Whangarei, 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 when I had a renal bleed that I 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.

During late 2014 I took the step further to try Sirolimus tablet, a mTOR inhibitor drug. I discontinued cream treatment as this tablet was taken orally. The choice to take the tablet was due to its known effectiveness in tumour suppression. I was having a lot of painful discomfort in my kidneys. They were quite big at this stage. One kidney ranging 16cm in size the other roughly 20 cm in size. An embolization was no longer an option for me. I had approval via NPPA (Named Patient Pharmaceutical Assessment from PHARMAC) for Sirolimus. I had three months on tablet form at 1mg a day, I also took into consideration to change my lifestyle and move from Hamilton to Whangarei for rest and retreat. About two months in I found, the medicine was not very tolerable for me. In the end I decided with doctors notice to discontinue this drug. I was determined not to give up!

Being in a new location, I was under a new DHB. I was assigned a renal doctor, had scans with brain tumour involvement as well as kidney involvement, we tried for Everolimus, another mTOR inhibitor drug. Through NPPA it was successful. This drug showed early psychological benefits. I also found more positive aspects to it, then negative side effects. I started on 5mg and I became more alert, more balanced in mood and a zest for life! My facial angiofibromas were becoming less visible. I have been on this drug for six months and am continuing to still see what a positive experience it has been for me thus far. I am also hopeful it will help with several tubors in the brain as well. Throughout the year, I will continue to be monitored through blood tests.

I am determined to keep looking for improvements for this health condition. A dream would be to have a New Zealand TSC clinic in the future. I hope in the future we have medicines available, affordable and accessible for TSC individuals in New Zealand.

Taming the Dragon: Helen's Story

Address to the New Zealand Family Conference, November 2014

I started writing this sitting in my hotel room in Beijing at 4:30 in the morning, wide awake waiting for the start of an international Tuberous Sclerosis Complex research conference. I never would have thought 12 years ago when I first heard of TSC that it would lead me there! All part of the roller coaster ride that is living with TSC.

Our first child Mac was born in January 2002. The first few months were great. He slept through the night from 6 weeks and was a smiley, contented, chubby, gorgeous baby.

When Mac was about 3 months old, he started doing funny twitches before he went off to sleep. We asked our family and friends if they were normal but no- one was particularly alarmed. I asked the Plunket nurse about them at our regular check up and she said babies make funny movements all the time and assured me they were nothing to worry about. I was quite happy to take to her advice. I certainly didn’t have any mother’s intuition they were anything to worry about. Luckily my husband was more cautious than me. He took Mac to see the GP on a Saturday morning. This was the first time the seizure word was mentioned. That GP gave us the great advice to try to video the episodes and go back to see our regular GP the following week. Videoing wasn’t as easy back then as it is now. We organized to borrow a camera from Tam’s Mum and took our first video. It wasn’t hard to find an episode to video as he was having them several times a day by this stage.  

We went back to see the GP who referred Mac to Starship neurology. We had an agonizing wait to get our appointment and I started my hard task of learning how to advocate for our son, ring the booking lady and asking if we had a time yet. While we waited, Mac became more and more irritable. He screamed when he had a bath – which he’d never done before, he whimpered when we were out in the sunshine, he took hours of feeding to get to sleep at night – but he did still sleep through! We tried introducing him to solids thinking he might be hungry and there was hardly anything he would eat. He was meeting his milestones but I think he had slowed down in his development.  I remember saying to my mother in law at this time – it’s like he doesn’t like me anymore! He was miserable.

Finally we got the appointment at Starship. They saw the video and told us he had epilepsy.  Mac went back on the waiting list for an EEG which was completely haywire, hypsarrhythmia. We were told he might have West Syndrome, and might not develop any further! In order to get an urgent MRI, Mac was admitted overnight. The plan was to do the MRI, then a lumbar puncture to see if they could find out what was causing the seizures. The lumbar puncture wasn’t needed as the MRI showed multiple SENs in his brain and we were given the diagnosis of TSC and infantile spasms.

His funny little twitches were generalized seizures which would lead to mental retardation if left untreated. We were offered a choice of three drugs to treat the Infantile Spasms – Vigabatrin, with its possible visual field effects, ACTH steroids, which would probably make him even more grumpy and Epilim, which probably wouldn’t work very well. In a few hours we had gone from not knowing what TSC was to trying to decide which drug to give our son. I didn’t feel sad though at that time, that came later – I was relieved that a diagnosis had been made and confident that we could cope. In other words I was in shock! In that hospital stay we experienced the worst and best bedside manner of our journey. Dr Clare Spooner was the best and I am so grateful to her for her advice with the medication choice and for the sensitive way she told us about TSC and about the importance of our role as parents in helping Mac. He started on Vigabatrin and tolerated it well. The only hiccup was having to reduce the dose after he laughed all day long! We were incredibly lucky that the Infantile Spasms stopped after a week and never came back. Our happy, contented baby returned and he started to learn again. We had early intervention from physio, speech therapy and later an early intervention teacher which was wonderful – though a hassle at times as well.

So Mac was OK but the enormity of the diagnosis was hitting me. I had a five year plan written down and none of this was in it! As my mum said I was having to learn to float. I was not very good at it – still aren’t actually! We had been told that it wouldn’t be until Mac was 5 that we would have much of an idea of how seriously he would be affected. That felt like a lifetime away. I remember going for a walk near our house and watching kids play soccer on the school field nearby. It looked blurry to me and it wasn’t just from tears – all our expectations and dreams for Mac and our future were blurry. Several months after the diagnosis I read the one page in a parenting book about parenting children with special needs. It talked about the grief parents experience with the loss of their often unspoken dreams for their child. I was so relieved … I wasn’t going crazy, I was grieving and it was normal. Even though I had a wonderful child in front of me and despite all the comments I was getting that “he seemed so normal – you’d never know there was anything wrong”…. It was still not the life I thought I would be leading and it was ok to be sad and angry and all the other emotions I was feeling.

As well as coping with a baby with a very uncertain future, we had the genetic side of TSC to deal with too. We wanted more children and felt we needed to know whether either of us had it before we tried to get pregnant again. We went through a battery of tests and it seemed we didn’t have it but we were still not convinced so asked to have DNA testing. After months of waiting Mac’s gene change was identified on TSC2 and we sent off our blood samples thinking it would be a few months before we would know. No such luck. A year later, the lab finally told us that they had no record of me and Tam’s test tube was there with nothing in it! Several months later the results did come back all clear and after a few more dramas we welcomed Isla to the family and Leo a couple of years later.  

While all that was going on we were having some ups and downs with Mac’s seizure control. The night before his 1st birthday our peaceful period on vigabatrin came to a sudden end when he had a tonic clonic seizure that lasted for 1 hour.  We were rushed to hospital by ambulance and spent his first birthday in hospital.

Because of the change in seizure type and the length of time he had been on vigabatrin, he was gradually changed to Tegretol and has remained on that ever since.  This has largely controlled his seizures but there were a few more terrifying status seizures in his pre-school years – especially alongside other illnesses. Despite the seizures, Mac continued to develop. His speech was delayed for a while but by the time he started school, he was able to go without any special education support and now achieves well academically. He still has break through seizures a few times a year and remains on Tegretol to control them. One other aspect of TSC, which has been a bit of an issue for us is the skin lesions. Angiofibromas began appearing when he was about 3. At the Australasian Tuberous Sclerosis Society conference in Sydney in 2011, I heard about topical rapamycin as a treatment for angiofibromas and with the help of our dermatologist Dr Ben Tallon, our local pharmacy and some cash, Mac has using it for 2 years now (when he remembers!) with fantastic results. The redness disappeared within a few days and most of the bumps have been flattened. We will also be keeping a close eye on the neuropsychiatric side of things as he heads into teenage years. Mac is a great at sport – plays football, hockey, swims, sails and on the whole leads a very normal life.

I just want to take a moment to acknowledge our family, friends, churches, the TSC community and all the medical people who have helped us over the years.  It really does take a village to raise a child with TSC and I’ve found it’s sometimes the people you least expect who will step up.

When Mac was first diagnosed I spent hours reading everything I could and thought I knew all there was to know about TSC. With him being so stable, I put it to the back of my mind as much as possible and got on with life. But going to the TSC conference in Sydney in 2011 was a huge eye opener for me and I am so excited that we were able to organize the first family conference in New Zealand in November 2014. In the 9 years since I had read anything much about TSC the research and possible treatments had exploded. I also enjoyed meeting other families and talking with people who know what TSC is! Because this is a rare condition, it is important for families and patients to inform themselves and support each other to strike the sometimes difficult balance between accepting TSC and fighting for the best outcomes. 2014 was exciting for TSC in New Zealand. Janet Sharp, Sheryll Brasell, Leah Bos, Martina Kavanagh and I have worked with Clare Stuart from what is now Tuberous Sclerosis Australia to set up TSCNZ. We are very grateful to TS Australia for their support and encouragement and look forward to collaborating with them more in the future.

I find the uncertainty of TSC is one of the hardest things to cope with. Janet and I have talked over the years about TSC being like a dragon – it’s always hanging around raising its head and breathing a bit of fire in our lives every now and again or for some of you every day. I hope this conference and TSCNZ will help us all with taming that dragon.

Accessing Sirolimus Cream

I think our story of accessing Rapamcycin/Sirolimus cream for our 13 year old son Mac is a great example of the power of groups like TS Australia and TSCNZ.

In 2011, my husband and I received a grant to attend the ATSS conference held in Sydney. It was the first time we had heard about the growing body of research into using of m-tor inhibitors to treat various aspects of TSC. We were particularly interested in the Sirolimus cream to treat angiofibromas.

Mac had started developing angiofibromas at around age 3 and they were increasing in number, bumpiness and redness. He had been offered laser treatment in the past but had never wanted to go through what sounded like an unpleasant procedure with no guarantee of good results. When we heard there was an option of a simple cream that was effective, I was very keen for Mac to try it. To me, Mac’s angiofibromas were a constant reminder of TSC and the uncertainty we were living with. There is a lot we can’t control about TSC, but this cream had the potential to give us control over one aspect of it.

On my return from Australia, I set about finding out how we could access the cream. I tried seeing if Mac could go on the Sydney trial but the trips to Sydney for the research checks ruled that out. Next stop was a visit to the GP asking for a referral to the dermatologist at our local hospital. To begin with Mac was told he could not have an appointment and they would not even put him on the waiting list (but that’s another story about access to health services!). Thankfully our GP pushed back and Mac was given an appointment. We turned up with our new found knowledge and enquired about getting a prescription for the cream. Predictably, the dermatologist had not heard of it before but was interested and said he would do some investigating and he applied for funding for the cream. At that time, the percentage of Sirolimus was thought to needed to be 1%. This meant the cream would cost around $7000 and our funding application was turned down. 

A short time later I received an email out of the blue from the dermatologist. He had read the report on the Perth study into Sirolimus cream for children with TSC and the effectiveness of 0.1% in treating them https://tsa.org.au/type/research-article/. He was posting us a script and all we needed to do was find a pharmacy to compound it for us and pay the cost of the cream. Since the percentage of Sirolimus was so much smaller the price was a tenth of the original quote. This was still a substantial amount of money though and the first pot cost us around $450. Luckily our local pharmacy had Sirolimus in stock and were able to make up the cream.

I had a moment of indecision the night Mac was to first use the cream. Was it really safe and necessary to use this “experimental” treatment?! Was I being an irresponsible mother pushing for this? The information I had heard at the conference reassured me and we gave it a try. At first he applied it morning and night. The cream was a little gritty but by the morning that would be absorbed. He experienced some weepiness after applying it but that soon settled down. The results were almost immediate. After a week, the redness had faded and soon the bumpiness began to subside as well. There are still a couple of larger angiofibromas that do not seem to have changed but on the whole the result has been just what we hoped for.

Because of such a big improvement, the dermatologist suggested reducing the dose to at night only and that was more practical as well with the grittiness of the cream. Since 2012, Mac has used the cream. We found a small tub would last longer than 6 months and I felt the financial cost was well worth it.

After the conference in New Zealand last November, I was encouraged by other’s experiences of gaining funding for Sirolimus cream through the Special Authority scheme at Pharmac. Mac and I set off to the dermatologist optimistic about getting the cream funded only to find that our friendly dermatologist has moved on and the new one was reluctant to prescribe the cream off-label, let alone apply for funding for it! A little disappointed, I emailed her the article from the Perth study and waited. A few months later, we got the news were hoping for. Mac had a Special Authority Number and his cream would be funded for two years. We still have to pay a compounding fee but our most recent pot only cost $40 so a big improvement on what we had been paying. It has also been great to hear that another family in the area have also been able to get the cream prescribed and funded.

Mac does not use the cream every day and I feel that he has the right to decide what his face looks like. Maybe he will decide that he is happy with angiofibromas. After all they are a part of him and his identity as a person with TSC. However, it is awesome to have the choice available to him to be able to use the cream or not and I am very grateful for the information and research that has enabled Mac to access it. And looking back I feel pretty proud of myself too! A knowledgeable, patient, determined Mum can achieve a lot ;-)