Sammy's Story
Sam is an energetic and creative 8-year-old who loves drawing, Lego, and Minecraft. But behind his bright smile, Sam’s journey with neurofibromatosis type 2 (NF2) has been full of unexpected challenges, resilience, and courage.
A frightening beginning
In 2019, at the age of two, what started as a routine surgery to remove Sam’s adenoids and tonsils in a regional hospital turned into a medical crisis. The operation was a success, but Sam wouldn’t wake up afterwards. Alicia, his mum, recalls the terror of that moment:
“The doctors didn’t know what was happening. They said we had to start thinking about saying our goodbyes — we weren’t sure he would make it.”
After a tense video consultation in the surgery room with specialists at Westmead, Sam finally woke and spent one night in intensive care, two nights in a video consultation room on the ward and three nights at Ronald McDonald so he was close by incase anything else happened. This traumatic experience marked the beginning of a long and complex medical journey.
Diagnosis and the shock of NF2
As a teacher, Alicia noticed early signs that something wasn’t right - Sam wasn’t hitting his milestones, struggling with balance, walking, and talking. An MRI revealed the diagnosis: NF2, with tumours in his brain. The call from a junior registrar who had no idea about NF, left Alicia in shock:
"I was teaching a class when I got the call. Tumours in his brain - bilateral, likely benign but they are unsure. I just went into freeze mode. It was pure shock, not what I was expecting in a million years, I had never even heard the word Neurofibromatosis."
Faced with confusing medical advice and little guidance, Alicia immediately turned to Google and luckily found the Children’s Tumour Foundation (CTF). She called the National Support line but wasn’t sure if anyone would answer given it was nearly 5pm. Thankfully Ruth, CTF’s Head of Support Services, picked up the phone and it was a turning point for Alicia:
"That call was one of the best things that ever happened. I needed to talk to someone then and there. Ruth answered questions that the registrar wasn’t able to, she talked me through everything calmly. CTF has provided support ever since."
Ongoing medical challenges
Since his diagnosis, Sam’s health journey has been complex. He currently see’s six different specialists multiple times a year. He developed obstructive sleep apnea and central sleep apnea in which he now uses a CPAP machine for. He had to have MRIs every 6 months initially, which was terrifying because we never knew if he would wake up from the anaesthesia. They are now every 12 months to track tumour growth and thankfully Sam was able to undergo his first MRI this year without anaesthesia.
Sam’s ear tumours have remained stable, but unfortunately, he has new growths on nerves effecting his vision, which has led to him wearing glasses. Sam also wears grommets in his ears to help with hearing. However, NF2 affects his speech, which leaves him behind academically and socially. He has gone from being non-verbal using the Pics for PECS cards, to using some sign language, to drawing pictures when people had trouble communicating with him. Over time he slowly started to use some words and because of the amazing support of his allied health services, he now uses short sentences in which he is being understood more each and every day.
"There is so much conflicting information from the medical teams. He has nine different diagnoses that impact each other, and not everyone agrees. This makes it so difficult as a parent with very limited medical knowledge, how can I make informed decisions?"
The social and emotional impact
Living in rural NSW adds another layer of difficulty. Traveling 12 hours round trip for appointments is exhausting, and limited local understanding of NF2 has made advocacy a necessity. Alicia credits their clinical care coordinator with helping manage appointments, making the journey more manageable.
“CTF’s online resources have been incredibly helpful in helping me to be able to educate health care professionals who have no idea about NF. The CTF support staff have been amazing in talking with different providers as well as Sam’s school and teachers, so that everyone knows how they can best support Sam.”
The social and educational impacts are significant. Sam misses school frequently due to traveling to appointments in Sydney, struggles with communication, and faces challenges in forming friendships. Sam’s NF2 also heavily impacts the rest of his family, with big sister Sophie missing school frequently to travel with the family. But Alicia and husband Sean just want to do everything they can for Sam, give him as many opportunities now while he has the chance as the future is so unknown.
A blanket of safety
After his diagnosis a lovely lady named Donna kindly knitted Sam a blanket in the NF colours of green and Blue. He took this blanket everywhere - car trips, Little Wings flights, hospital appointments - everywhere that Sam went, so did his blanket, a true source of comfort, along side his Pebbles Penguin.
Just recently, Donna knitted a new, bigger blanket for Sam; "I have never seen a bigger smile or received a better hug from such a beautiful child. May it travel well and be your safety blanket for years to come" Says Donna.
"We’re not going to let NF2 dictate our lives. We won’t allow it to stop us from doing what we want to do."
Finding strength and hope
Currently Alicia and the family have to deal with constant anxiety when it is time for Sam’s yearly MRI. Alicia tries her best to keep the worry from Sam and Sophie, but it is a lot on her and Sean’s shoulders. Despite the uncertainty, Alicia remains determined to give Sam a full, joyful life:
"There isn’t a single thing I could do to change this, so I just have to put one foot in front of the other and do the best we can. I’d rather do that than be the one rocking in the corner."
Sam’s creativity shines through even in difficult times. With his speech difficulties, he has often resorted to drawing to communicate his needs.
Both he and big sister Sophie have contributed drawings for this year’s Christmas e-card's, to help raise funds to support CTF services and bring joy to others while showcasing their resilience.
You can send an e-card this Christmas or make a donation to support families like Sam's here.
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