Lyla's mum Amanda shares her story.
Lyla was a little late in developing her gross motor skills, but with the support of our GP, children and family nurse, and a physiotherapist, we were guided on ways to encourage her to meet these milestones. Although she would learn them a little late, she would then master these skills quickly and make us forget a time she wasn’t demonstrating them.
Lyla had a few birthmarks when she was born. I couldn’t say how many because I never thought it was important. I myself have a few birthmarks and therefore, thought nothing of them. However, as Lyla got older, more and more freckles and birthmarks appeared. At 10 months old, I took my own photos and made a note to ask the GP about them at her check-up.
After skimming through some information on Google, I found it overwhelming and I decided to push it out of my head until our doctor’s appointment. Surely, I was reading into it too much.
Asking the question
After months of thinking I was just a paranoid first-time mum, I decided to ask our GP about them, at Lyla’s 18-month check-up. After examining her, he informed me that they are called café-au-lait spots and suggested that there was a possibility it could be Neurofibromatosis. He referred us to a paediatrician, who would know more about it.
In this time of the unknown, everyone tells you not to Google, as it is quite confronting. In my mind, I thought we would deal with it, once it was confirmed."
At our appointment, the paediatrician asked a lot of questions and examined Lyla. She confirmed that it was most likely NF1 however, she would need to refer us to a geneticist for a clinical diagnosis. She then asked how I felt and said that parents often go through a grieving process, once their child is diagnosed. I don’t think the seriousness really hit me until I heard that phrase, ‘grieving process’.
After that appointment, came all the research. NF is such a complex condition, that it is hard to know what to expect. As parents, the last thing you want is for your child to experience any pain or difficult times in their life. Everything we were reading, outlined a far from ideal life including constant doctors’ appointments, tests, learning difficulties, and more.
The most upsetting symptoms were the tumours that could grow anywhere in and out of the body, which could lead to physical disability, disfigurement, or even cancer. We were desperately looking for real-life stories of people who had NF1 and had little symptoms or complications, which was next to impossible to find. The statistics state that 50 percent of people living with NF have a mild form, however, this was not reflected in the information and stories we were finding.
In the months we waited for the genetics appointment, I was giving Lyla a bath one night and noticed a bump on her back.
It seemed to be there one minute and then she’d move, and it seemed to be gone. I made another appointment with the GP and remember saying to him, ‘I’m sure I’m imagining it, but can you just see if you can see a bump on her back.’ Surely enough, he agreed and after examining her said she possibly had a curve in her spine. He sent us to get it x-rayed and it showed a result of mild scoliosis, which was another symptom of NF1.
At the genetics appointment, Lyla was officially clinically diagnosed with NF1. The geneticist sent us to get an ultrasound on the bump on Lyla’s back and as she suspected, it was a plexiform neurofibroma. We also had an ultrasound of a mass on the sole of her foot and she had an eye examination with an ophthalmologist, which came back all clear.
Our paediatrician organised for an MRI, to check for any more internal tumours and after another long wait, we received the best possible news, that there were no more internal growths and that her current plexiform neurofibroma, was not attached to, or encroaching on, her spine.
After a very long process, all the initial testing has been done. Now comes a lifetime of monitoring, and hoping there are no more major complications created by NF1. Lyla will have yearly appointments with her paediatrician and neurologist. She will have six-monthly eye examinations with the ophthalmologist until she is four and she will also have a yearly ultrasound on her plexiform neurofibroma/s.
NF1 is hard to understand and process as an adult, so it is going to be extremely tricky explaining it all to a young child. This will be one of our biggest challenges, providing Lyla with the necessary knowledge, while not giving her a life of worry, at a young age. "
We don’t want NF1 to define who Lyla is, however, NF1 will always be a part of her and we want her to be proud and comfortable with that.
In the last few months, Lyla noticed some of her bigger spots while she was getting dressed. I told her they were her ‘special spots’ and have tried to paint them in a positive light, so she will hopefully grow up to love them. Luckily, I have a couple of these spots, so now we look at ‘Lyla’s special spots’ and ‘Mummy’s special spots’ and we bond over them.
Even though this has been an extremely difficult journey so far, Lyla continues to be a shining light in our lives. We don’t know what the future will hold for her, but we do know that she continues to make us proud and she will have an amazing life.
2020 was the first year we were involved in the Cupid's Undie Run, and we were lucky that the Kiama event was held just before COVID reached Australia. We helped to sell raffle tickets and created our own team of supportive friends and family to join us on the day. We were proud to help raise awareness for Neurofibromatosis and the Children’s Tumour Foundation and our team raised over $2000 to go towards the foundation.
The Cupid’s Undie Run is about showing that even though we all may look different, we are all strong, unique, and most importantly loved, which are important messages we want Lyla to grow up knowing.
It is also ultimately about a shared hope that one day there will be a cure for NF.