By Debbie Crosby, Alana’s mum and former President of TSA (NSW, April 2024). 

Alana was diagnosed with TSC as a baby. She is now 20 years old and Debbie and her family have shared their story to help other families who are also with living with the uncertainty of TSC.

This is a preface from Debbie: “Our TSC Community is so wonderful because our stories are so varied and different. If you or your child are recently diagnosed or are young, I don’t want you to read our story and think this is what TSC will be like for you.  TSC affects everyone differently. And, since our daughter was born 20 years ago, there have been amazing advances in diagnosis, treatment and surveillance, which help improve the outcomes for people living with TSC.“

My husband Anthony and I have 2 beautiful daughters, Alana, and Sophie.  Alana is now 20 years old and has TSC (Tuberous Sclerosis Complex) and Sophie is 16 years old.  I know I am biased, but they are beautiful, funny, sweet and caring girls.  

Our TSC story began 20 years ago. Alana was a very happy and healthy baby and as a first time mum I felt like the luckiest woman in the world. At the age of 6 months old I noticed Alana started to make 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.  I took her to see the Paediatrician. He examined her and saw the large white spot on her tummy, which we thought was a birth mark. He looked quite concerned and ordered a CT scan.  At that appointment he told me that he thought Alana was having infantile spasms and she may have TSC (Tuberous Sclerosis Complex). Like most people I had never heard of this disease. And although the doctors tell you not to do this, like every parent we rushed home and looked up Dr Google. That was not a very good idea.  My husband and I were shocked, confused and became very worried about Alana’s future. 

After the CT scan showed many large tubers in her little brain, our paediatrician diagnosed Alana with TSC. We were devastated and had to face everything else that comes with a diagnosis of TSC.  The doctors’ appointments, ultrasounds, blood tests and all of the emotional upheaval.  We had so many questions: ‘was our daughter going to be okay? would her seizures stop? would she have autism or a developmental delay? why us?’ 

Compared to 20 years ago, most babies today are diagnosed either in utero or very early after birth which means they can be monitored and treated earlier. Even so, I think most families still feel this sense of hopelessness and lack of control once they receive a diagnosis.

So, what does TSC mean for Alana and our family? Unfortunately for Alana, she is severely affected by this disease. She has epilepsy which is very difficult to treat.  Even though she is on 4 different medications for her epilepsy she still has seizures every day and surgery was not an option for her. We have tried so many different medications and combinations throughout her life and this is so challenging. All you want is for the seizures to stop.

Alana has a severe intellectual disability and autism and large AMLs in her kidneys. Alana is nonverbal and it is very difficult for us to understand what she wants. She needs assistance with every part of her daily life and faces huge challenges every single day. She needs help with eating, getting dressed, toileting, showering and cannot be left on her own. She needs 24-hour care. There were many sleepless nights when she decided to stay awake all night or wake up super early, but luckily, she is now a good sleeper. She attended a wonderful school for children with high needs and she now attends a day program which she enjoys very much. 

TSC affects all aspects of her life and the same is true for our family and our extended family.  It is there every single day.  We were lucky to have a great team of specialists at Sydney Children’s Hospital’s TSC clinic, and it was very challenging when we transitioned to adult care when she was 18 years old.  We know we still have a great team of specialists, but we do miss having only one clinic to attend. We also find it difficult to manage her disability and the disease and to distinguish what is causing her behaviours or illnesses.  It is like being on a rollercoaster – you think everything is going well – and then the next week it’s not.

Even though 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 and always has a smile on her face, even when she is going through so many tests and procedures in hospital. 

While I was writing this I thought about the hardest part of dealing with TSC. Even though many of us have different experiences, I think we also have many challenges in common. And I feel it is important we speak about these, not to feel sad or hopeless, but to acknowledge that living with this disease is tough, difficult and exhausting.

There are so many things, but for us it is the lack of control that is hardest.  We can’t control the seizures, and having to watch her have them, we feel so helpless. We can’t switch off the autism and the behaviours either. As a carer or parent, you can feel isolated, and you may not be able to work or go out as much as you’d like to. It can be difficult for friends and family to understand what you are going through. Siblings also find it difficult to have a brother a sister with a complex disease. Even when things are going well, TSC is always there.

I am quite a positive person, so I just want to finish on what we have learnt from having a child with TSC and though these things might sound like clichés, they are true.

• The most important things in life are family, friends and compassion for others.  
• After 20 years living with TSC has taught us patience and perseverance (but there are still many days where all the patience in the world doesn’t help!)
• We try to take one day at a time. 

 For me personally, acceptance has played a big part in helping us care for our daughter, and continuing to get up every day and getting on with it. And the last thing is asking others for help.  I wish I had asked for more help and even now I forget that I should. We are lucky to have a wonderful TSC Community and TSA who are always there to listen and understand. We should all make the most of them!