Even when it’s sunny, three-year-old Nicola Szczesniak will be looking for the moon.
When she sees it in the garden of her Lancaster home she makes a sound like a wolf.
“She’s passionate about the moon, the sun and the stars. Twinkle Twinkle Little Star is her favourite song,” says mum Eva, 30.
“I don’t know what it is but she gets very excited; my little princess is happy on her own. We’re often fighting to get into her world.”
In fact, it can be dangerous for Nicola to play alone.
This is because Nicola has the genetic condition tuberous sclerosis complex (TSC) which means she has around eight seizures a day. Her development has been delayed because of the condition so she can’t talk yet but uses Makaton, a system of signs, symbols and speech to help people who are non-verbal communicate.
The family have also lived through two operations to remove benign tumours, called tubers, growing in Nicola’s brain.
As she gets older, these could develop in her other vital organs such as the kidneys, heart, eyes, lungs and skin.
Eva and Nicola’s dad Lucas, 30, have had to assert themselves to get the right support for their only daughter.
They’re hugely grateful to the Tuberous Sclerosis Association (TSA) for helping them get Nicola on the right treatment path.
“Our support worker at TSA, Fiona, helped us get an appointment with a doctor so that Eva could start a new treatment to stop her tubers from growing,” says Eva. “TSA work magic, they know who to contact and how.
“I want families like ours to know about the support that is out there and to not struggle on their own.
“Three years ago, it was hard for me to ask for help. Now, give me a number and I’ll ring it. I have no shame, no boundaries. My daughter has shown me how to fight.”
Eva and Lucas noticed that their daughter was having spasms when she was three weeks old.
Nicola had the same seizures during her six week check-up.
After a brain scan, she was diagnosed with TSC when she was two months old.
It was a shock for Eva and Lucas but they were positive from the beginning.
“It’s terrible to listen to a doctor tell you that your six-week-old child is not going to walk,” says Eva.
“But my husband said it would be fine. He told the doctor ‘She will come to see you again and she will walk into this clinic’. He couldn’t believe it when that actually happened.”
The time following Nicola’s diagnosis was traumatic for the whole family, which includes Lucas’ parents, Sofia and Miro, both 55, who the couple live with.
Nicola had brain surgery at 13 months, and again last October, but doctors know now that all the tubers in Nicola’s brain weren’t removed.
This is why Nicola is still having daily seizures.
“The tubers could grow everywhere, we don’t really know,” says Eva. “Whenever she has an upset stomach or a headache, I worry that something is wrong and because Nicola is non-verbal she can’t tell me what’s painful.”
And yet, Nicola is starting to find a way to tell her family what she wants.
Eva, who used to work in sales, and Lucas, a painter and decorator, met in England in 2004 but are both from Poland.
They decided to speak English in front of Nicola but Lucas’s parents do talk in Polish when she is there.
As a result, Nicola appears to understand both languages.
Nicola is also doing well at the special nursery she goes to four mornings a week and, interestingly, is different there from when she is at home.
“When she’s there, she’s like a princess, very gentle, very quiet and really happy,” says Eva. “At home, you can’t ignore her because she is always asking for something and demanding attention.”
Both Eva and Lucas are keen to spread awareness of the condition.
In October, Eva will be shaving off her hair to raise money for TSA.
Lucas is shaving off his leg hair and doing a coast to coast bike ride, from Morecambe to Bridlington, to raise money for the charity.
“It will be the first time I have seen him on a bike,” says Eva.
Plans for the future are simple: for Nicola to be seizure-free and happy.
And while, the couple are planning a family trip to Disneyland in Paris, Eva says they try live in the moment.
They know it won’t be easy with the condition that Nicola has, but don’t think about the future that much.
“We live day by day and take each as it comes because you never know what will happen,” says Eva.
“I want to be strong for my daughter and be there for her. My goal for each day is to make her happy, for every day to be as good as it can be.”
Nicola and her parents are helping to raise awareness of children’s genetic disorders with the UK children’s charity Genetic Disorders UK and their annual fundraising day, Jeans for Genes Day.
Now in its 18th year, Jeans for Genes Day is tomorrow, Friday, September 20, and invites everyone to wear their jeans to work or school in return for a donation.
Jeans for Genes Day raises money for Genetic Disorders UK, the charity that aims to change the world for children with genetic disorders.
Funds raised will go to the vital care and support they need.
Tuberous Sclerosis Association is a Jeans for Genes Day 2013 grant charity. They will receive £15,129 from funds raised on Jeans for Genes Day to pay a volunteer coordinator role providing support to families affected by tuberous sclerosis complex.