My husband Anthony and I have two beautiful daughters, Alana and Sophie. Alana, who is eight years old, has TSC, and Sophie is five years-old. I know I am biased but they are beautiful, funny, sweet and caring girls. I wanted to tell our story in the hope that it may help other families, especially newly diagnosed, and share the difficulties we have experienced.When we first bought Alana home and settled in for a couple of weeks, I kept on thinking that I was the luckiest mum in the world. She ate very well, slept very well and was a calm and content baby. At the age of 6 months-old I noticed Alana started to have these jerking kind of movements and then she would fall asleep after them. It looked like she had reflux or a very bad case of the hiccups. She was also very unsettled and would cry for hours at a time, which was not like her at all. After I noticed this a few more times, I took her to the GP and she was diagnosed with reflux and given some medication. After a week or two I didn’t think it was reflux and our GP suggested I take her to a paediatrician. He examined her and saw the large white ash leaf on her tummy, which we thought was a birth mark, and he looked quite concerned and ordered a CT scan. At that appointment he told me that he thought Alana was having infantile spasms and that they could be caused by Tuberous Sclerosis. Although doctors tell you not to do this, every parent rushes home and looks up Dr Google. That to say the least was not a very good idea. My husband and I were shocked, confused and became very worried about Alana’s future. I think we both knew at the time that Alana did have TSC.
After the CT scan, which showed many tubers in her little brain, our paediatrician diagnosed TSC. We were devastated.
After the diagnosis you have your good days and bad days, but we tried to take one day at a time. Alana wasn’t having any seizures, but I was always looking for signs. She did take longer to reach the normal milestones, but by the age of 18 months old she was walking and started to babble and was a very happy smiley baby. However she also began showing the early signs of autism and we felt like we were starting all over again with another diagnosis.
We began early intervention and although she had a noticeable developmental delay and some autistic behaviour, Alana was a very happy child who loved to play and laugh. At the age of two and a half years the seizures came back. She was given medication and this helped for a while but she had absence seizures nearly every day. They would last for 10 seconds or up to 2 minutes and she would be very sleepy afterwards. Some days she would have one seizure and other days there would be multiples. They would come on more strongly after she woke in the morning or if she was very tired. Even though this sounded terrible to people who don’t know about TSC, most days we considered ourselves lucky, as she never had to be hospitalised because of a seizure.
At this time she also became very whingey and irritated and she would cry for hours at a time. Because Alana couldn’t talk or communicate with us we became very frustrated and didn’t know what she was feeling and what she wanted. We tried so many different medications and combinations of these, and some would help for a short while, but then the seizures would come back. We even tried the modified Atkins diet for ten weeks, which made her feel very sick but we persevered hoping the seizures would stop. They didn’t.
We were also dealing with autism. She didn’t like loud noises, and she would sit in the corner and rock back and forth. Because of the seizures and the autism Alana would progress developmentally for a while and then a few months later regress. We would wake up every morning and we didn’t know if we were going to have a good day or bad day. We felt like we didn’t have any control and it felt like things were never going to get better. However we persisted with therapy and she attended a fantastic inclusive preschool. We tried to lead as normal life as possible and we decided to have our second child.
This was not an easy decision and any family would tell you the same thing. We received genetic counselling before we went ahead, and then decided to have genetic testing when we got pregnant. We are very grateful that Sophie is a veryhealthy and happy child. She is a very caring, empathetic and fun sister to Alana, and she asks many questions about Alana and has some understanding of her condition.
I knew having a second baby and looking after Alana was going to be difficult, but I wasn’t prepared for what was to come. The first year after Alana was born was the hardest year of mine and Anthony’s life. Alana’s seizures became more frequent and none of the medications were working. We had tried eight different medications and several combinations of these. Some made her very sleepy and others gave her terrible tantrums and behaviour. We had tests to see if the seizures could be stopped with surgery, but she was not a good candidate because the seizures were being caused by different tubers in her brain. She even began to have drop seizures where she would lean so far down she would drop onto her knees. They were very scary.
She would also wake up at two or three in the morning and not go back to sleep. This would go on for months and months and it was exhausting. As a mum I also felt very isolated as it was difficult taking both Alana and Sophie out together and we could not do the normal things families do.
Finally after three and a half years we found a drug combination that worked. At first I was very sceptical and thought that it wouldn’t last, but for two years she was seizure free. When the seizures stopped, Alana became much happier and she made small improvements. However ten months ago we changed one of the medications because it was causing side effects and the seizures came back. I think that like many other families seizure control is so frustrating and we struggle with this all the time. Luckily at the moment the seizures have stopped again and we are hoping it stays this way for a while.
TSC and autism cause many challenges for Alana and our family. She doesn’t talk, but does say the important words like “Mum”, “Dad” and “Yum”. She attends a special needs school and loves it, and last year she began attending vacation care in the school holidays for the first time. She loves music and dancing, especially the Wiggles, and she gives the best cuddles. Even though she has a severe developmental delay and autism we are very lucky that Alana is quite a social child who loves to play with her sister, she loves going out, she doesn’t have any problems with changes to her routine, and she loves to eat and try new foods. We also began a new type of autism therapy 18 months ago and her nonverbal communication has really improved. This has made a big difference to our family life as we are able to understand what she needs and wants.
Although our story sounds challenging and at times very sad, Alana is one of the strongest and happiest children you will ever meet. We are very lucky that for most of the time she is a calm and playful child who always has a smile on her face, even when she is going through many tests and procedures in hospital. We try and celebrate every day that she is able to run, laugh and play. We never forget that some children are not able to do these simple things.
While I was writing this I thought about what is the hardest thing to deal with TSC. There are so many things but for us it is the lack of control over this disease. I can’t control the seizures, and when we watch her have them we feel so helpless. I can’t switch off the autism either. But the few things we have learned from having a child with TSC are going to sound like clichés, but they are true. The most important things in life are family, friends and compassion for others. It teaches us patience, perseverance and we now take one day at a time. We appreciate and celebrate the little things in life, and we tell our girls we love them and hug them way more times than they would probably like us to.
Even though we are dealing with epilepsy, autism, AMLs in her kidneys, and all the other things that go along with TSC, compared to where we were five years ago, we are a stronger, happier family and we have a positive outlook for Alana’s future.
Eighteen months ago I decided to join the TSA Committee (then ATSS) because I felt I wanted to give something back and help other TSC affected families. In August I took on the role of President and it feels very rewarding being part of a Committee that helps TSA empower families and individuals through access to the most up to date information and support. (Alana is now 12 and Sophie is 9.)