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By Francesca, Lucia’s mum (NSW, July 2023)

Francesca and Lucia

Nothing can ever really prepare you for the heartbreaking news that your baby girl has, not one but 2 complex rare diseases. Since our daughter Lucia was diagnosed with TSC (Tuberous Sclerosis Complex) and PKD (Polycystic Kidney Disease) we have learnt so much about the human body, genetics and just how complicated and distressing life can be as you watch your beloved child develop significant health issues.

We first knew something wasn’t right at our 36-week ultrasound. Our unborn baby had cysts on her kidneys. And so, even before her birth, Lucia was diagnosed with the rare genetic condition PKD in which cysts on the kidneys can grow to be very large and start to affect how the kidneys work. But that diagnosis was just the beginning of our story.

When Lucia was 6 months old, she started having infantile spasms. We were away on holiday in Kiama and I noticed her making some strange movements; they were very subtle but I saw her hands go up in the air and she would jolt. These movements became more regular and would happen every time 10 minutes after she woke. Fortunately, I knew exactly what it was because I had recently seen a video of what an infantile spasm looked like. I sent a video of Lucia’s movement to her paediatrician. He advised us to go to the hospital and get an EEG as soon as we were home from our holiday.

Lucia FINAL 1

Within 5 minutes of arriving at the hospital’s emergency department, Lucia had another spasm and was immediately admitted to the ward. I’ll never forget that day. There were about 10 doctors all standing around Lucia’s bed watching her have a seizure and I said to them: ‘I know I’m not a professional but do you think this is TSC?’ The neurologist was shocked and asked how I even knew about TSC. I told him I had noticed a white patch on Lucia’s skin. I had questioned these patches with our doctor but my concerns were dismissed as nothing to worry about. So, I googled white patches on the skin and read all about TSC. The doctor listened to me and then turned to all the other doctors gathered around Lucia and said, ‘Mother knows best – a mother’s instincts should be listened to’. I was so grateful to be heard at last.

If you suspect your child may have TSC, I encourage you to insist on a Wood’s lamp test. When the doctors checked Lucia’s skin with this ultraviolet light it was clear that her skin was covered in white patches. We knew she had one big one under her leg but we had no idea how many more there were. It took just 3 days for Lucia to be diagnosed with TSC2. I can’t help but wonder if she would have been diagnosed even earlier if I had insisted on investigations for the white patches when I noticed them. One of the reasons I am sharing our story is that I feel it really is up to us as parents to advocate for our children and push for further investigations if we feel something ‘just isn’t right’.

Emma Memma and Lucia

Another reason I am sharing our TSC story is that I want everyone to be aware that there are 2 different genes responsible for TSC – TSC1 and TSC2.  While the average person with TSC might experience cysts on the kidneys (angiomyolipomas or AMLs), a very small proportion of people with TSC2 may also have a deletion of the gene that causes PKD because the PKD1 gene sits next to the TSC2 gene on the same chromosome. So, if a child with PKD has a seizure, they may need to be investigated for TSC due to the link between the PKD1 and TSC genes.

Both TSC and PKD vary greatly in each child. As the months go by, it is becoming clear that our beautiful baby girl Lucia does not have a mild case of either. Lucia is now 2 years old and is non-verbal. Accessing a physiotherapist from a very young age has helped her to walk, run and dance. Lucia’s smile lights up my heart. She gives us so much strength and makes us laugh. She is so much fun and loves dancing. And she adores and is adored by her 2 older sisters.

We don’t know what the future may bring for Lucia but we know we will never stop advocating for her to have the best life possible. We also know that we want to help other families facing similar challenges to feel connected and supported on their journey. We want to help families know early on things we were unaware of including infantile spasms, white ash leaf patches (hypomelanotic macules) and the two genes TSC1 and TSC2.

Our little Lucia’s diagnosis came as an enormous shock to our family. We’re trying to take it one day at a time and just focus on all the positives, like our access to expert treatment at Sydney Children’s Hospital through the TSC multidisciplinary clinic and the information and support from TSA (Tuberous Sclerosis Australia). It has been and continues to be a big adjustment for everyone in our family. But the advice and support from these teams of experts has been so reassuring. We really don’t feel like we are managing this alone anymore.

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