Miriam, Tasmania

My son Caleb was diagnosed last year with tuberous sclerosis complex (TSC). His diagnosis story is a little unusual and includes a heart condition that the doctors still believe is unrelated to his TSC.

Our first child Jemima had never been sick, so I had no experiences with having a sick child until Caleb was five months old. I went to the doctor five times that week, I knew something was not right. Caleb started vomiting, stopped sleeping and had dark circles under his eyes. Eventually we went to the emergency department, and were told there was possibly something wrong with his heart. We followed this up with our GP, then a paediatrician and finally saw a cardiologist. We were shocked when he was diagnosed with a serious heart condition, coarctation of the aorta. This would require surgery as soon as possible .He had surgery when he was just eight months old, followed by ongoing monitoring of his heart condition.

In February 2018, when Caleb was seven, we were told he needed further surgery. He now had severe aortic stenosis and a subaortic membrane. In May 2018 he underwent open heart surgery to repair his valve at the Royal Children’s Hospital in Melbourne. This surgery was a success.

After this surgery, Caleb went back to school just one hour per day while he was recovering. One day, Caleb went to school as usual, but I got a call saying Caleb had fallen. I picked him up from school as we were worried about his chest being hurt. Caleb was very upset and vomiting and complaining of a headache. Thinking we were overreacting, we still decided to take him to hospital to make sure his heart was OK. Tests for his heart showed no problems and we were not thinking that anything else could be wrong. Two days of tests and observations and Caleb was lethargic and sleepy, and then screaming and holding his head when he was awake. I knew something was not right.

“They told us the name of the tumour. It was a subependymal giant cell astrocytoma. I remember asking them to spell it for me so I could add it to our long list of technical terms. This is when I first heard of TSC. They said to us: “There’s a rare genetic disorder that Caleb definitely doesn’t have that this tumour is associated with.”

A CT scan was done at 6.30pm on a Friday night and straight away we were pushed out of the room and doctors were everywhere. It was like a TV show. We were told about the bleed in his brain and that they had found a large brain tumour. We were all quite confused because we thought we had a child with a heart condition. It was too dangerous to transfer him to Melbourne and emergency surgery was required immediately to put in two drains to relieve the pressure on his brain. We had two days in intensive care as the doctors waited for the aspirin Caleb was taking for his heart to come out of his blood stream before they could operate on the tumour.

Caleb then had a ten hour operation to remove the tumour. This was longest day of our life. He came out of the anaesthetic calling for me, which was incredible. He was recovering really well while we waited for a diagnosis of the tumour. At this stage we didn’t know if the tumour was benign or malignant, and there were numerous delays in receiving the results. We eventually were told that it was benign but they still didn’t know what it was.  Finally it was confirmed that it was a subependymal giant cell astrocytoma. I remember asking for the spelling so I could add it to our long list of technical terms. This is when I first heard of TSC.

They said to us: “There’s a rare genetic disorder that Caleb definitely doesn’t have that this tumour is associated with.”  I disregarded this at the time because we had so many other things going on. I am so glad I asked about it before we were discharged so I had ‘tuberous sclerosis’ written down.

After a while, I did what they all tell you not to and I googled tuberous sclerosis. It was the information on Tuberous Sclerosis Australia’s website that helped me realise Caleb had some of the skin signs of TSC, including depigmented areas of skin, small angiofibromas. I stopped when I knew I didn’t want to know anything else just yet.

When I raised my concerns about possible symptoms I was told again that he did not have TSC. I believe they ruled this out because he didn’t have an intellectual disability and had never had seizures. I felt uncomfortable because I knew these people were the experts. I continued to push and eventually one of his doctors agreed to do a genetic test for TSC, which would take six weeks to come back. We had to put aside all our questions about TSC while we waited for the test results.

I was very careful in those six weeks. I read the information pages from Tuberous Sclerosis Australia (TSA) because there were very factual and not alarmist. When the results came back, Caleb’s oncologist read the report and said: “Oh yeah, he’s got it”. That was it.

We were devastated and in shock. We both cried a lot that night. They still think his heart condition is unrelated to the TSC, and we were unsure what it meant to have a child with both TSC and this heart condition.

We learnt how to pronounce ‘tuberous sclerosis’ and started telling family, friends and the kids. This was hard. I found myself saying: “He’s got this condition, but it’s all OK.”  I really tried to downplay it. We told Caleb, aged eight, that he had tuberous sclerosis and he laughed as he tried to say it, so we broke it into syllables. I explained that it would mean lots of doctors and lots of tests and that was why he has all the marks on his skin and why he got his brain tumour. He’s pretty proud of his scars already. He’s been really fine with it. We told his siblings and they’ve reminded us how resilient kids can be.

We asked what happens next and were told they didn’t know a lot about TSC and to just continue as normal. Thankfully, I was already familiar with the surveillance guidelines because of TSA’s informative website. When I first went over the checklist of what tests Caleb needed, it was the first time I felt I had a little bit of control over what was happening. We knew we needed to get an MRI of Caleb’s brain and kidneys and have other tests. I knew I had to be Caleb’s advocate. It did get exhausting at times constantly having to push for things to happen.

We were referred to a great paediatrician, but she said: “You’re lucky he’s so mildly affected”. I agree in some ways we are lucky, but discovering a brain tumour three weeks after open heart surgery felt far from lucky.

Thankfully, I was already familiar with the surveillance guidelines because of TSA’s informative website. When I first went over the checklist of what tests Caleb needed, it was the first time I felt I had a little bit of control over what was happening.

I do feel I have to be constantly vigilant and have to keep gently pushing for things such as a script for topical rapamycin.  An example being his script for topical rapamycin. The resources and research papers on TSA’s website have been so useful for these conversations. I don’t want to be that nagging person, but I do have to keep advocating for what is best for Caleb. We are getting into the routine of all the tests that Caleb needs to have. It is our new reality.

Taking on the coordination of Caleb’s care was a big job. When I told my Mum about tuberous sclerosis she was relieved, saying: “So that means someone else will run this now. You won’t need to keep doing what you have been doing for him.” The reality, we know now, is that coordinating Caleb’s health care still falls to me. Doctors are extremely busy people caring for many patients.  Patience and educating myself more and more about TSC has helped through the frustrating times when we have had to ask for certain tests to be done or chase up referrals.

Caleb is a talented gymnast and member of the junior development squad at our local gymnastics centre training nine hours per week. He had a long time off training after his heart and then brain surgery. On his first day back at training I cried and cried, possibly the hardest I have cried through this whole thing. I think I was a bit numb and removed at other times. But when I saw him running down and getting on the rings – it was amazing. I never cease to be amazed at what he can do with all that he has been through.

As a family, we enjoy taking our boat out and fishing and camping. Everyone said to us that after the year we had we should plan a holiday. We did go away together camping over summer but not too far from a hospital!

There’s a big journey ahead, but we will deal with each thing as it comes. Thinking about everything all in one go is too much. My emotions sometimes catch me unawares, but at other times I can talk about TSC without getting emotional. Our family made donations to TSA last Christmas and it was the first time my husband and I felt like we were doing something positive. It was a lovely way to end the year and we look forward to doing this gift giving each year with our family at Christmas.

We have written at home: “You never know how strong you are until being strong is the only choice you have”. TSC is our new normal now. It’s our new reality and we will be OK.

Thanks to our partners at nib foundation, TSA is developing a parachute pack. This will be a tailored information resource for families and health professionals at the time of diagnosis to help improve the TSC diagnosis experience. This new resource will help families like Caleb’s when they first learn about tuberous sclerosis complex.
Caleb and Miriam
Caleb after brain surgery
Caleb after brain surgery
Caleb and his family on holidays
Caleb at gymnastics