Every year, Sydney Children’s Hospitals Foundation help support over 158,000 kids and their families that require care for many different reasons – from stitches and broken bones to chronic illnesses and rare diseases. For the month of May, we would like to focus on one of those rare diseases and some of the amazing work The Children’s Hospital at Westmead does.
Neurofibromatosis (NF) refers to a group of genetic conditions that cause tumours to form on nerve cells throughout the body, affecting more than 10,000 Australians. Typically non-cancerous (benign), tumours can form on nerves, under the skin and deep in the body. NF is incredibly variable, with symptoms varying greatly from case to case. NF can lead to vision and hearing loss, bone abnormalities, learning difficulties, chronic pain, scoliosis and in a small percentage of cases, even cancer.
NF is indiscriminate, affecting all races and genders equally. Half of all cases of NF arise in families with no history of the condition, with a 50 per cent chance of passing it onto a child.
The condition is variable and often unpredictable, even when cases appear within the same family. Some children may have very mild and very few health complications, while others may experience severe complications that have serious impacts on daily life.
Unfortunately, there is currently no cure for neurofibromatosis.
The NF Clinic at The Children’s Hospital at Westmead manages children across NSW and ACT who have complex NF1 and NF2, requiring multidisciplinary care. This clinic offers families a lifeline providing comprehensive diagnostic evaluations, follow-up care and genetic counselling for kids, teens and young adults.
Together Sydney Children’s Hospitals Foundation and the Children’s Tumour Foundation of Australia fund the NF Clinical Nurse Specialist (CNS), a vital role within the NF clinic, working closely with clinicians and families to ensure the continuation of care. This key piece of the puzzle links in clinical teams and external support services, manages changes in patient's conditions and educates families on the monitoring of NF symptoms.
The types of NF include neurofibromatosis type 1 (NF1), and all types of schwannomatosis (SWN). NF1 affects 1 in every 2,500 Australians, often presenting as brown skin spots (café-au-lait spots), freckling in the groin and armpits, and benign tumours known as neurofibromas.
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NF2 is characterised by benign tumours developing on the nerve, which carries sound and balance information to the brain. Children and teens diagnosed with NF2 often present with tinnitus, loss of hearing, and/or problems maintaining balance.
As I am sure you can imagine, coping with this life-changing disease can be difficult for kids and families. To help support families as part of the NF Clinic, The Children’s Hospital at Westmead created the NF1 Learning Clinic. This clinic brings together a team of psychologists and a clinical neuropsychologist to provide diagnostic and neuropsychological assessment services for children and adolescents with (NF1). The aim of the Learning Clinic is to assess and support children with NF suspected of having developmental delays, intellectual disability, learning difficulties, and behavioural or cognitive concerns.
This level of support is only possible thanks to donors like the Children’s Tumour Foundation (CTF). Working alongside the NF Clinic, the Children’s Tumour Foundation has a vital role in supporting patients and families living with NF.
Advocating for change, advancing research and empowering the NF community with the knowledge, connections and support at every stage of their journey, the Children’s Tumour Foundation provides free, personalized and accessible non-clinical care to anyone impacted by NF in Australia.
Whether there is a family history of neurofibromatosis, or the diagnosis comes unexpectedly, no parent is ever ready to learn that their child has a chronic and unpredictable genetic condition. Many are left feeling overwhelmed, confused, and uncertain.
For families facing a new diagnosis like neurofibromatosis please remember:
- The Children’s Hospital at Westmead is there to help, and there are lots of ways they can support.
- There are amazing supportive services out there, like the Children’s Tumour Foundation, who can support your family with the challenges NF may present.
- Many families have been down this path and learned how to help their children thrive, and you will too.