hope is on the horizon for patients with nf1, thanks to treatment innovations

it may surprise most people to learn that, although rare diseases by their very name are rare, collectively they affect so many of us. estimates vary, but approximately one in 12 canadians live with a rare disease, or approximately one million people overall.  

“nowadays, when you talk to people about rare diseases, almost everybody can tell you they know somebody with a rare disease,” says durhane wong-rieger, president and ceo of the canadian organization for rare disorders (cord), which has long been campaigning for the canadian government to improve the way the health-care system identifies, diagnoses, treats and supports rare disease patients.  

among the most challenging rare disorders for families is neurofibromatosis (nf), which affects one in every 3,000 births, or approximately 2.5 million people worldwide.  nf is a group of genetic disorders that causes benign tumours to grow on nerves throughout the body.  

nf affects each patient differently, but it can lead to health conditions and complications including blindness, deafness, bone abnormalities, disfigurement, learning challenges, disabling pain, or cancer.   

the various types of nf include nf type 1 (nf1), nf2-related schwannomatosis (nf2), and schwannomatosis (swn) . of these types, nf1 is the most common.  

a debilitating condition that can reduce life expectancy by up to 15 years , nf1 can have a significant impact on young patients, including disfigurement (due to softening and curving of bones, and curvature of the spine, also known as scoliosis) and learning challenges. symptoms can also include motor dysfunction, pain, airway dysfunction, visual impairment, and bladder/bowel dysfunction . the condition is characterized by multiple light brown skin spots and neurofibromas (small benign growths) on or under the skin, as well as freckling in the armpits or groin .   

plexiform neurofibromas with nf1 affects approximately five to 15 per cent of patients . nf1 with plexiform neurofibromas (nf1 pn) patients are affected by these slow-growing, painless, and locally infiltrating tumours.   

“although it varies from patient to patient, nf1 can have an enormous impact on a child’s quality of life, affecting everything from their ability to eat to performing regular activities,” says wong-rieger. when visible, it can be very stigmatizing and isolating.   

“like many rare diseases, nf1 affects the whole family,” wong-rieger says. “a great deal of time and attention must be spent on the child living with the disorder. and parents worry about the impact on their child’s self-esteem and social interactions.”  

wong-rieger points to the need for better patient support for rare disease patients. “we’re not doing a great job of creating patient support communities,” she says, adding that rare diseases can take a great toll not only on patients but on their families and caregivers.  

treatment options for nf vary depending on the patient’s age, health, medical history, symptoms, which nerves are affected, and the expected progression of the disease. although there’s no cure yet for nf, the various treatment options can help to relieve symptoms.  

treatment options include medication, surgery, radiation, and monitoring. these options can transform the lives of children living with nf1, enabling them to have better quality of life by minimizing the impact of their condition.  

although advancements in treatment are a promising step for nf1 pn patients, and for the rare disease community at large, according to wong-rieger, more can be done . “when it comes to supporting these patients, we need to recognize that although individually the medicines are expensive, overall, in the drug budget their impact is minuscule — about four per cent of the drug budget goes to rare diseases. the more we spend on these medicines, the more return we get on the investment. it’s not spending — it’s an investment in terms of quality care and better outcomes.”   

with increased supports, along with ongoing treatment innovation, the future is looking brighter for canadians living with rare diseases and their loved ones.  

this story was created by content works , healthing.ca’s commercial content division, on behalf of a pharmaceutical company.    

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hope is on the horizon for patients with nf1, thanks to treatment innovations

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