Jenine and Ron were pleasantly surprised to discover they were pregnant for the second time in 2014. Their four-year-old daughter, Maddy, was looking forward to having a baby brother or sister. Their second surprise came when they found out they were having twin boys.
A few months before the boys arrived, the family became aware of the condition neurofibromatosis (NF) after their friend’s daughter was born with marks on her skin called café-au-lait spots.
Even this could not prepare Jenine and Ron for the next big shock… when one of their twin boys Sol, was also born with café-au-lait spots.
Alerted by the marks, Sol and his twin brother Leo, were promptly seen by a paediatrician. Soon after, the family were linked to the Neurofibromatosis Clinic at the Royal Children’s Hospital, Melbourne (RCH) where genetic testing soon revealed that Sol had Neurofibromatosis Type 1 (NF1), resulting from a spontaneous genetic variation.
As the boys grew, the differences between them did too. In the years before starting school, Sol was not reaching many of his developmental milestones, which was made more apparent as his twin brother sailed through his early years without issue. “No sooner had we ‘caught up’ on one thing, the next issue would arise” says Jenine.
Though NF is most often associated with the development of tumours, it is a complex neurological condition with many genetic modifiers that can impact a person across multiple body systems, including cognitive functioning.
The family routinely visited the NF clinic at the Royal Children’s Hospital and the eye clinic. “Each visit to the RCH is marked with anxiety then relief once we’re told there are no tumours noted” says Jenine.
In 2020, Sol and Leo started school. Adjusting to the new learning demands upon him was hard and only made more difficult by the remote learning requirements due to the COVID-related lockdowns in Victoria. Despite extra support from his parents, Sol quickly fell behind his brother, and his peers. The following transition to the classroom, two years later, was also problematic and at the end of his first full year of typical schooling, Sol’s teachers expressed their concerns. Sol was struggling academically.
It was at this time, that Jenine decided to reach out to the Children’s Tumour Foundation (CTF). “We were sent an information pack and I realised we had been struggling on this journey alone when there were so many resources available like factsheets for schools and health professionals, as well as a children’s book called ‘The NF Hero’“. Jenine finally had the tools to communicate this complex condition to his teachers, as well as to Sol.
Just weeks later, Jenine attended an Information Day hosted by the CTF to inform families about new clinical information, research trials and treatment methods. “The experience was difficult emotionally. I sat quietly in the back, spoke to no one and on the breaks went outside to cry. It was here I first saw other parents experiencing similar challenges, not only with NF, but accessing support services” says Jenine.
At the information day, a small study known as the TAP-iN project was presented which had been yielding promising results from the use of auditory equipment in the classroom for children with NF.
Jenine eagerly signed Sol up for the research trial that involved him wearing an earpiece in the classroom and the teacher wearing a linked microphone. Immediately, Sol moved from daily exhaustion and not wanting to attend school to vigilantly charging and packing the earpiece and microphone each night, intuitively understanding that it was significantly helping his concentration and learning.
Sol continues to receive support from multiple allied health specialists to address his difficulties with reading, numeracy, working memory, executive functioning, organisational skills, low muscle tone and poor coordination. He will likely need ongoing support for the entire duration of his schooling.
Without this support, Sol’s performance at school could impact his opportunities for adult learning, employment and full participation in society.
Like many other children with NF, Sol’s ability to read social cues, and formulate and maintain friendships is limited. This can be frustrating and isolating for a child.
Seeing buildings lit up blue and green during NF Awareness month is a profound experience for Sol, as he realises people all over the world have NF, he is not alone, and others stand with him.
In 2023, Sol and Jenine attended their first NF Community camp, made possible thanks to our generous donors. These camps give families a break from the complications of NF and a chance to make friends and positive memories. “I was able to meet face-to-face with the staff from the CTF and other parents to hear their stories. Sol had the opportunity to try new and daring activities all in the company of children who shared the NF challenge. The camp highlighted the human experience of NF rather than what I had been bogged down with, which was the clinical and medical demands of the condition” says Jenine.
Now nine, Sol is a happy and well-mannered boy. But as adolescence approaches, the future becomes more frightening for mum Jenine, who knows this is a transformative time when tumours can form. “I have spent many, many nights grieving for his future. Our hope comes from knowing there are people working hard to learn more about NF, that we are supported by the CTF and by focusing on what is right in front of us – a creative, uniquely clever, kind natured boy named Sol… who happens to have Neurofibromatosis” says Jenine.