Written by Amanda, Lyla's Mum.
Lyla is a happy and bubbly 6 year old, who is friendly to all she meets. It is common for her to greet people at the shops and ask their name before telling them hers. She leaves everyone she meets, with a smile on their face. Lyla arrived one week after her due date in 2017; after 3 years of trying to conceive, a fairly easy pregnancy but a very traumatic birth. She has been surrounded by so much love even before she was born.
Lyla was such a calm and happy baby. She slept through from 3 months old, was always smiling and was happy in her own company. However, as she got a little older, we noticed that she was a little late in reaching her gross motor milestones (rolling, crawling and walking, in particular). With the support of our GP and children & family nurse, they referred us to a physiotherapist, who guided us on ways to encourage her to meet these milestones.
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 had done 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 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, “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.
In the months we waited for the genetics appointment, I was giving Lyla a bath one night and noticed a bump on her back. I took her to our GP and after examining her said that 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 clinically diagnosed with NF1. The geneticist sent us to get an ultrasound on the bump on Lyla’s back and it was labelled a suspected plexiform neurofibroma, a type of tumour related to NF1. We also had an ultrasound of a mass on the sole of her foot and this was also labelled as a suspected plexiform. To this day, the doctors and specialists are still unsure if these are plexiforms, as they don’t present in its typical form. Unfortunately, this is one of the things that create a heavy burden in the NF journey; all of the unknowns and no concrete answers. At this stage we are having yearly scans/photos to monitor for any growth. The only positive is that they are not causing her any pain and the mass on her back is not attached to or encroaching on her spine.
At 2 years old Lyla had her first MRI of her brain and spine, to get baseline imaging. It is such a scary and emotional experience watching your small child go under anesthetic, leaving them with the medical team and waiting for what seems like the longest wait of your life.
Next, Lyla was referred to an ophthalmologist, to do an eye examination, looking for lisch nodules and signs of optic gliomas behind her eyes. In her most recent appointment, the ophthalmologist could see the beginnings of lisch nodules, however no sign of optic gliomas. At 4 years old, she was prescribed glasses due to astigmatism, not related to NF.
Last year, Lyla had a MRI to get updated imaging of her brain and spine. We were devastated to learn that they found another small tumour in her back. After consultation, we were asked to have a repeat MRI in 6 months time to reassess the tumour’s size and position. We were told that this appeared to be a desmoid tumour, which could hopefully be resected without too much trouble. After the repeat MRI 6 months later, the paediatric neurosurgeon gave us the best news, that the tumour had disappeared. We were in shock and cried happy tears!
More recently, Lyla’s paediatrician noted that over a 6 month period, between our appointments, she could see that one of her cheeks appeared more full/puffy than the other. She sent us for an ultrasound to make sure there were no growths. Thankfully they did not find any. The scan showed that the masseter muscle in her jaw was asymmetrical and her lymph nodes were slightly larger but not too enlarged that we needed to worry. She said that we will just keep an eye on it, so now that is on our list of monitoring.
NF1 is hard to understand and process as an adult, so it has been extremely tricky deciding how to explain it to a young child. We want Lyla to know about her NF1, but we feel that she is still too young to understand the more complex details, without worrying her too much. At this stage, the main thing she can identify is that she has lots of ‘Special spots’. I have a couple of birthmarks, so it was nice to be able to look at ‘Lyla’s special spots’ and ‘Mummy’s special spots’ and turn them into a positive thing. Lyla’s younger sister also has a birthmark in a similar spot to one of Lyla’s which is a beautiful coincidence.
We have had many appointments over the last 6 years, and Lyla has always taken them in her stride. As long as she had activities to do and a lunchbox of snacks, she was fine. However, recently they are taking its toll on Lyla.
She has to see 7 different doctors/specialists over the year. Now she has a younger sister, she has come to the realisation that she has to go to more appointments than other children, especially her sister. She recently asked me “Mum, why do I have to go to the doctors all the time but Natalie doesn’t? It’s not fair that I have to go.” It broke my heart that I could hear the genuine pain in her question.
We were so worried when Lyla started school. With an amazing resource pack from The Children’s Tumour Foundation, I was able to pass on important information about NF and how it could have an impact on Lyla’s learning. Her kindergarten teacher was so welcoming and supportive and took this information to guide her on how to support Lyla within the classroom. On NF Awareness day, Lyla was excited to be able to share The NF Hero story with her class and bring in green and blue cupcakes to share. It was definitely an adjustment going to school 5 days a week and then to add appointments to the end of those school days, has been hard.
Lyla has trouble with receptive and expressive language, as well as comprehension, and processing information. We have been seeing a speech therapist for a few years to help with this and she has come a long way!
Lyla also has low muscle tone and has struggled with fine & gross motor skills, poor concentration and executive functioning skills. We have been seeing an OT weekly for over a year and have recently dropped back to fortnightly appointments. She has been able to work towards and reach some of her goals, becoming more confident over the last year in particular.
A highlight of last year was attending the NF family camp in NSW. It was such a wonderful experience. We were able to be surrounded by families who know exactly what we are going through and have such fun and positive experiences together. Lyla was able to meet other children who have NF and she cant wait to go again this year.
Lyla is a bundle of happiness, love and kindness. She is full of energy from the second she wakes up and is never tired. Since Lyla’s diagnosis, she continues to show us just how brave and resilient she is. She has a nurturing nature and wants to be a mum when she grows up. She plays with dolls, loves drawing/craft and wants to play with her friends every minute she gets. We don’t know what the future will hold for Lyla, all we know is that we will be there to support her every step of the way and celebrate her at each stage of her unique journey.