About Neurofibromatosis

I have a friend who has a child with Neurofibromatosis. 

Neurofibromatosis is the collective name for three genetic conditions – Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis. It affects one in 3.000 individuals and is characterized by the appearance of tumours in the nervous system, including the brain, spinal cord and nerves. 

Diagnosed in childhood or early adulthood, usually, these tumours are benign but can become malignant. As the condition progresses, complications may include hearing loss, learning impairment, cardiovascular deficiencies, loss of vision, scoliosis and severe pain.

Besides being a Biologist, a Researcher and a Professor, my friend is now the President of the Portuguese Association of Neurofibromatosis (APNF). And I had the honour of working closely with APNF during 2019. 

I collaborated with them preparing the information that was used during the event "Shine a Light on Neurofibromatosis". And on the evening of May 17th, several landmarks in Lisbon were illuminated with the colours blue and green.

I was also invited to be the moderator of their 16th National Encounter. This was a fascinating event where patients, medical doctors and scientists were brought together to discuss the latest progress on Neurofibromatosis research. 

In a full day of emotional experiences, patients could express their stories. Some of them had been diagnosed after their 30's. Doctors and researchers discussed the latest clinical trials and the advancements made in the discovery of better living conditions for the ones suffering from this disorder. 

As a mother of a young and healthy boy, I cannot imagine how it is to have a child with Neurofibromatosis. But my friend is one of the brightest and remarkable women I have ever met. She is the type of person that will always inspire me to do better and to believe in Life!

There are more than 6.000 rare diseases, 80% of these have a genetic origin, 50% affect children. 

It is time to help organizations like APNF that support patients, their families and friends. 

Science Communication has a vital role in promoting the visibility of these organizations. Raising social awareness for the existence of rare genetic diseases will give voice to these associations and help patients to achieve better living conditions. 

Visit the APNF website at https://apnf.pt/