Supporting Neurofibromatosis patients

Families living with a diagnosis of Neurofibromatosis (NF) now have greater support following the appointment of an NF Support Coordinator for Queensland and the Northern Territory. Daniel Hinson talks about his role and the genetic condition.

What is Neurofibromatosis (NF)?

Neurofibromatosis or NF refers to several variable conditions which cause tumours to grow on nerves in the body. NF can affect both males and females and is diagnosed in people from all ethnicities and backgrounds. NF type 1 (NF1) is quite common and is thought to affect around one in every 2,500 people. NF type 2 (NF2) is much less common and affects around one in 35,000 people. Schwannomatosis is also a type of NF which is rare in the community.

How is it detected?

Detecting NF can be difficult, and each person diagnosed will have a unique medical journey. There are specific diagnostic criteria for NF1, NF2 and Schwannomatosis. These criteria have been laid out by the National Institute of Health (NIH) Consensus Development Conference Statement 1988. For the most common type of NF, NF1, the tell-tale signs are having more than six café-au-lait spots (brown ‘birth marks’) on the skin together with freckling in the armpits or groin. Neurofibromas, which are lumps that grow just under the skin, can also be some of the first and only visible signs of NF1. Most people with NF2 are diagnosed as young adults following investigations for unexplained headaches, dizziness, balance problems, ringing in the ears or hearing loss.

Who is affected by NF and what impacts can it have on a person’s life?

NF is a genetic condition which comes about due to a genetic change (mutation) in an important gene which is needed for tumour protection. Some people with NF will be the first in their family to have this gene change. This means it is not inherited but caused by a ‘new mutation’ in that NF gene. For others with NF, the gene change is inherited from one of their parents who may or may not have a milder form of NF. When a person with NF has children, there is a 50 per cent chance that they will pass on the NF causing gene.

What is your role?

I am the NF Support Coordinator, Children's Tumour Foundation (CTF), based at Genetic Health Queensland, Royal Brisbane and Women's Hospital (RBWH). NF is considered to be as common as Cystic Fibrosis, Duchenne Muscular Dystrophy, and Huntington's Disease, but community awareness of NF is still very low. CTF aims to help children, parents, and adults with NF by providing supportive care, advocacy and education, and advancing medical research and clinical capacity. As part of my role, I'm establishing the support service for Queensland and the Northern Territory. This includes meeting with patients and their families to provide practical and emotional support, help CTF with fundraising events, and liaise with key stakeholders such as Queensland Health.

How will this role support families or GPs?

My position is a point of contact for GPs to refer their patients and families for support. In this role, I can link patients and families to appropriate community support services, individualising this support to their circumstances. By working closely with patients, family members, GPs, and specialist services, I am helping to raise awareness of NF, promoting the great work that CTF does, and in the process making a difference to people with this condition.

What do you hope to achieve in this role?

My hope is that ultimately, we will have a fully funded clinic for medical diagnosis and treatment of NF patients. I want to reach out to as many people as possible, and to promote the positive work of CTF.

 

For more information contact Daniel Hinson on 07 3646 1262 or via email Daniel.Hinson@ctf.org.au or visit www.ctf.org.au.