If you have ever sat in the waiting room of a hospital or doctor's office, wondering what's hurting someone you love, you'll know the importance of finding answers.
But what happens when those answers don't come? When the people who should be able to help you have no information? When an unexpected diagnosis is not accompanied by a plan?
Neurofibromatosis (NF) is unpredictable, progressive and there is no cure. Everyone with NF faces a lifetime of uncertainty.
Here are some common challenges people living with nf face:
prevalence but obscurity
NF is more common than some widely recognised conditions like Cystic Fibrosis and Duchenne Muscular Dystrophy.
More than 13,000 Australians live with this complex genetic condition, which can impact any ethnicity, age or gender and in half of all cases, there is no family history of the condition.
Despite being one of the most common genetic conditions, awareness amongst health professionals, funding for supports and treatment options are lacking.
variability of symptoms
NF can cause tumours to grow on any nerve ending in a person’s body and therefore each person will face different challenges and potential complications depending on the size and location of the tumours and their rate of growth.
Fortunately, some people will only ever develop mild symptoms, but others will have ongoing, complex health issues that may eventually become life-threatening.
The condition can impact a person physically, mentally, psychosocially, academically, and financially.
Delayed diagnosis
30% of Australian adults living with a rare disease are impacted by a diagnostic delay of more than 5 years.
This is even greater for those with less common forms of NF, with schwannomatosis patients typically having a diagnostic delay of more or less 10 years.
Because tumours can form anywhere in the body and have the risk of becoming cancerous, delays in diagnosis can create additional challenges.
Unclear prognosis
"We had so many questions over the years, but there were so few answers to be found."
Due to the obscurity of the condition, investment into research has been minimal, with funding in the federal Medical Research Future Fund (MRFF) only awarded to NF for the first time in 2021. Other conditions of similar prevalence have received 3 X as much funding for research.
The slow progress of investigating the condition to understand the predictability of symptoms impacts thousands of Australian families, and millions more globally.
Limited expert knowledge
Most doctors and pediatricians have never heard of NF before and are therefore unaware of the diagnostic criteria or management plans for monitoring symptoms and tumour growth.
Across Australia, there are few NF specialists and only two dedicated clinics for NF. Equitable access to care is even more challenging for those living in regional and remote areas.
Increased risk of cancer and death
NF is a cancer predisposition syndrome and persons with NF1 are known to have up to a 4-fold increased risk of malignancy throughout their lifetime compared to the general population.
On average, lives are cut short by 10-15 years.