Tom's Story

We are blessed to have a very happy 10 year old boy, who just so happens to have NF1. He is our hero and this is his story….

Born in 2013 in the Hunter Valley, NSW, Tom came into this world to join his older brothers and sister, an endless bundle of joy and happiness, and despite many many interrupted, sleepless nights in the beginning, we all loved this little human being that had joined us.

When Tom was around 6 months old we noticed his right pupil was considerably larger and irregular in shape compared to his left one, so took him to our local GP for his opinion. We were referred to an Ophthalmic surgeon in Newcastle who consulted with another specialist in Sydney who highly recommended he have an MRI under a general anaesthetic. A traumatic experience for us at the time, with so many unknowns, but this was the beginning of so many more tests, and MRIs and eye surgeries for Tom, and this is where his incredible resilience starting to shine through. All water off a ducks back for Tom.

The only findings at the time was an enlarged eye and poor vision, put down to arrested primary congenital glaucoma, with no mention of NF1 at that time.

Other than regular eye checks, drops to help with the increasing pressure and glasses at an early age, we just carried on enjoying Tom for the little bundle of energy he was. He was never a great sleeper, always on the go, never crawled anywhere, just bum shuffled until 18mths old, and didn’t really put many words together until he was 2 and a half. He did have his own language though that we could understand most of the time! Numerous OT and Speech Therapists later, with funding from NDIS, he has overcome many of these delays. 

It was his paediatrician who first noticed his cafe au lait spots, something we had just put down to birthmarks and suggested we see the Hunter Genetics team in Newcastle.

Tom got his official NF1 diagnosis when he was 2 and a half, in 2016, confirmed with DNA testing, and after both his dad and I were tested too, and were both negative, and his siblings showed no visible signs of NF1, it was concluded that Tom was the first in our family to have it. 

This was an obvious shock to us all, having never heard of NF1 and filled us with questions and unknowns, and of course Dr Google didn’t help with putting our minds at rest!

 As time went on, life started to throw hurdles at Tom. His eye was getting larger and more bulging, and then the pressure in his eye became so great he had emergency Trabeculectomy surgery in early 2020 to relieve the pressure, and then again later in the year when it happened again.

Soon after he was beginning to present with right sided facial fullness, which originally manifested around his right eye, but over the last 4-5 years there has been an obvious asymmetry to the right side of his face. Numerous MRIs later and visits to Westmead has shown a thin infiltrative type of plexiform neurofibroma in the right sided facial bones, along with sphenoid wing displasia and dural thickening, and bony scalloping around his eye and in his jaw. So many unknowns right now for Tom but we have faith that under the care of the Cranio Facial Team, NF1 team, Neorologists, Oncologist and Dental teams we will find the answers to helping our boy.

As the years go by, you can see other children taking note of Toms facial features, but we are grateful with the school that Tom attends, a beautiful Steiner school, and he is loved by all at school. 

Tom though, can often be misunderstood.… His empathy, love and kindness towards others can sometimes be too much for his piers, telling him he is in their space, or not good enough to play sport with them. Kids can be cruel, so we have been working on social cues with his psychologist to help him in this area. Everyone needs a bestie in their life, but sadly that hasn’t happened for Tom yet.

Toms NF1 journey is always on our minds, he is an energiser battery, and he can be exhausting, but he does not have one malicious bone in his body. He has a vitality for life that is beyond anything that we as a family have experienced. He will go up to complete strangers and spark conversations, no matter what age and he really is an incredible, resilient boy

The challenges we have faced on our journey has been to find a team to medically and socially guide us on this journey of so many unknowns. We have to shout out here to his eye specialists in Sydney, Dr Tanya Karaconji and Dr Grigg, also his paediatrician Dr Ogle in Maitland and of course the amazing team at Westmead in the NF1 clinic, especially Dr Sarah Josephi Taylor, who is so wonderful with Tom, so patient and thorough.

It was only fairly recently that we discovered the amazing Children’s Tumour Foundation. What a wonderful group of knowledgeable and caring people! NF has not really ever been recognised in the main stream world and for this reason it struggles to gain funding. The CTF have thrown open their arms to Tom and us as a family and we are so very grateful. Tom attended the NSW camp last month and had an absolute ball, and now we are all excited to be involved in the fantastic Colour Run on the 12th of November in Sydney.

What does the future hold for Tom? He has a very strong loving family behind him which allows him the confidence to just be himself. There will, I’m sure, be many more hurdles to jump over, right down to what sports he can join in on, with the uncertainty of risk of damage to his right eye having no protection behind.

Despite all this, he continues to grow and thrive and love everything and everyone around him. He loves nature, 4Wdriving, camping, karate, cars, and simply cannot walk past a dog without needing to cuddle it! He loves people and lots of hugs, and people just can’t help but love him back. Last week he was at SeaWorld and a total stranger gave him a soft toy. These acts of kindness towards him seem for Tom to be quite a regular occurrence.

As he enters puberty we are sure new challenges will be thrown at our little man, but if there is anything that we have learnt from Tom is that there is no challenge that is insurmountable, his zest for life and ‘can do’ attitude is a breath of fresh air for all that know him. He is so loved by his family and we will be there every step of the way alongside him. We absolutely love our NF1 Hero!