Written by Amanda, Lyla's Mum.
We tried for three long years to fall pregnant. It is not much compared to others, but it felt like a lifetime to us. We couldn’t have wanted Lyla any more than we did. As a baby, she was mostly easy-going and many people would comment on her beautiful and calm nature, but was a little late in developing her gross motor skills. There was no way to prepare for the implications of what seemed to be a relatively innocent diagnosis.
Although Lyla seemed to be falling behind on key gross motor skills, with the support of our GP, family nurse and a physiotherapist, we were guided on ways to encourage her to meet these milestones. Once tackled, 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 birth marks appeared. At 10 months old, I took my own photos and made a note to ask the GP about them at her check-up. In the meantime, I did a quick Google search and NF did pop up. After skimming through some information, 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.
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 cafe-au-lait spots and suggested that there was a possibility of it being 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 or look up information on NF, as it is quite confronting. I looked up the general definition, but tried to avoid looking further into it - in case it turned out to be nothing. 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 referred 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, “a 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% 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 while 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 gone the next when she moved positions. 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?"
Sure enough, he agreed there was a lump and after examining her, said that she possibly had a curve in her spine. He sent us to get it x-rayed, which showed a result of mild scoliosis, which was another symptom of NF1.
At the genetics appointment, Lyla was 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 this has been labelled as a suspected plexiform; however, it is hard to confirm at this stage.
Lyla was referred to an ophthalmologist, to do an eye examination, looking for lisch nodules and signs of optic gliomas behind her eyes. This came back all clear.
Our paediatrician organised for a MRI, to check for any more internal tumours and to get a baseline image of Lyla’s brain and spine, including a better image of her current plexiform neurofibroma.
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.
We met with a paediatric neurologist, who talked through the scans and suggested yearly ultrasounds of the plexiform neurofibroma on her back and the suspected plexiform on her foot, to monitor for any changes. We were told that it was best to leave them be unless they began to change and cause problems for her, as they are quite hard to remove without causing further damage.
After a very long process, all the initial testing has been done. Now comes a lifetime of monitoring and hoping that there are no more major complications created by NF1. Lyla will have yearly appointments with her paediatrician and neurologist.
She will have 6 monthly eye examinations with the ophthalmologist, until she is 4 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 our biggest challenges, providing Lyla with 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 café-au-lait 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. She has such a happy and loveable personality. She is very active and loves to play outdoors with water and on the swing.
Her most favourite thing in the world is the movie Moana and loves to dress up in her Moana dress and sing along to her favourite songs. 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.