James (Jimmy) is 9 years old and is the crazy glue that holds our little family of five together. He is loved and adored by his older sister and brother, as well as his parents. He also has NF1.
Jimmy was diagnosed with Neurofibromatosis Type 1 (NF1) in December 2019 after many trips to the local hospital to assess a fast-growing pea sized lump on the inside of Jimmy’s right foot.
We were referred to Queensland Children’s Hospital (QCH) for further treatment after two ultrasounds and an MRI failed to result in a definitive diagnosis from doctors.
The lump turned out to be a neurofibroma which was successfully removed in February 2020. We were still unsure why he had developed the lump at this stage.
Soon after the surgery, Jimmy started to experience eye strain and headaches. He was referred to an Ophthalmologist at QCH to assess his eyes. The doctors noted swelling in the optic nerve and sent him for an MRI. While in hospital, the doctor noticed his many large café-au-lait spots and it was at this point that we heard the term Neurofibromatosis for the first time.
We always thought he just had funky, unique birthmarks. Who knew they could be a soft marker for something as complex as NF1?
The following week Jimmy had his first brain and orbits MRI scan, and the next day the genetics team made an official diagnosis of NF1. We were so scared and overwhelmed and anxious for what this new diagnosis could mean for our little boy. It took us a few days to even be able to say the word!
It seemed as though there was an endless list of challenges that Jimmy could experience in his lifetime, including tumours growing anywhere on the nerve cells of the nervous system (that is well over 1 billion nerve cells!), growths on the surface on the skin and learning difficulties.
We were given no time to process this information before we were meeting with the neurosurgery team who explained that the MRI had revealed the presence of a brain tumour in his right parietal lobe. A pilocytic astrocytoma. We were horrified to learn that it had grown to the size of a lemon and would need to be removed immediately.
Jimmy was booked for surgery in March 2020 and at 7am on the 17th, Jimmy went in for brain surgery to resect the tumour. He was in surgery for just over four hours.
Jimmy’s father and I learnt just how long we could hold our breath for as we waited for that phone call to say James was ok and in recovery.
Thankfully, it was a successful 100% GTR (gross total resection). The tumour was benign, and luckily no further treatment was required (chemo or radium). Jimmy spent a day in PICU to make sure everything was ok and stable before being transferred to the ward to recover.
Jimmy was very tired and spent only short amounts of time awake for those first few day in recovery. He was very sensitive to light and loud noises and had no appetite at all. He was frustrated and cranky and sad he couldn’t have any visitors. He missed his big brother and sister and his cat Charlie at home.
Just four days after surgery, Jimmy was discharged. It was the same day that Brisbane went into full lockdown for the first time. It was extremely worrying and scary time for us all.
We are very thankful for our wonderful oncology team and extended family of other oncology families for all the love and support over the last 12 months. We are looked after by Dr Tim Hassall and we are very thankful to have his experience and knowledge of NF1 to guide us as Brisbane does not have a dedicated NF clinic. Currently the only clinics in Australia are in Sydney and Melbourne. Fundraising and raising awareness is so important, so that hopefully one day soon a dedicated clinic can be established in Brisbane too!
Over a year on, Jimmy still fatigues very quickly and needs to take it easy as his brain fully heals. He has some sensory, memory and spatial awareness issues since the surgery, but we have a wonderful team of specialists helping him recover and regain what skills he can.
Jimmy currently sees 11 specialists at QCH and sometimes feels like we are at the hospital every other week.
Jimmy has returned to school and loves spending time with classmates and peers. He has also started private swimming lessons and has just started at circus school too! Circus school is a great group activity catered especially for special needs kids. Jimmy is passionate about super heros! Marvel super heros especially. Captain America came along for surgery and he often comes for rides in the car too!
During follow up MRIs (Jimmy has an MRI every three months to check on the tumours) we were made aware that he also has paraspinal tumours and some tumours in between his ribs, as well as an UBO (unidentified bright spot) in the cerebellum in his brain. The protocol for these tumours is to watch and wait.
We also learned that “scanxiety” is a real thing. Every MRI time is a nerve-racking, anxiety inducing time for everyone in our family, including his siblings. Noah and Izzy are so very protective of Jimmy in every possible way. Whether it's grabbing his hand as we cross the street or coming along to swimming lessons to encourage him and cheer him on.
Noah is speaking with one of the counsellors from Red Kite once a fortnight as part of the family support that Red Kite have offered our family. He likes being able to chat to someone who understands, just how overwhelming and scary the last 12 months have been for him and we appreciate the support.
Jimmy will continue to have regular MRIs and doctors’ check-ups to monitor his condition and deal with tumours as they become a problem and/or start to grow. It is a lifelong journey that he is now on.
He is a happy, funny and generous little boy who loves his family and friends. He is determined to live the best life he possibly can, despite his NF1 challenges.
Jimmy has a severe motor speech disorder, ADHD, and mild intellectual disability and some learning difficulties. We are unsure which, if any, are related to or caused by NF1. We often wonder if this had been diagnosed sooner would it have made a difference – particularly his learning difficulties.
As much as NF has tried to pull Jimmy down, he just keeps bouncing back and showing us all to never take a day for granted! Your life can turn upside down in a moment. Jimmy is such a bubbly, loving, happy and resilient boy!
Jimmy misses a lot of school for hospital appointments and therapy appointments. He gets sad when he misses class events and excursions but takes everything in his stride and tries to always look on the bright side. Every appointment where we get to go a 6 or 12 monthly schedule is a high five moment!
It is so important to bring NF out of the shadows as early diagnosis is so important to the treatment of this condition. We saw so many doctors, surgeons and specialists who just did not pick up on Jimmy’s NF.
Awareness and knowledge of the condition needs to be increased, even amongst our healthcare professionals.
Neurofibromatosis, a hard word to say, but it’s even harder to live with!