Home Real Lives The perils of living with neurofibromatosis

The perils of living with neurofibromatosis

2439
0
The perils of living with neurofibromatosis
NOW: Ntlhogo Serinane

A pensioner with a rare skin condition, neurofibromatosis, wants his bulging right buttock to be surgically removed.

For much of his life, 68-year-old Ntlhogo Serinane has suffered in dignified, resigned silence from the disease, which causes his skin to develop bubble like tumours all over his body.

However, the tumour on the old man’s bottom has been growing bigger in recent years, causing the Molepolole native great discomfort and considerable concern.

“If only the buttock can be reduced, then I can be comfortable in my pants. The buttock continuously grows bigger and it means I have to keep changing trouser sizes,” divulged Serinane, who relies heavily on handouts from good samaritans and fellow church mates.

“Doctors have told me that my condition is incurable. I have learnt to live with it and I have accepted it,” Serinane continued, adding he considers himself fortunate as the growths are non-cancerous and thus not life threatening.

He revealed he has suffered from the skin problem since the age of three but that the numerous growths which dominate his once-handsome face only erupted in his old age.

“I was born like this. I used to work in the mines in South Africa; back then the tumours were not so obvious as they did not show on my face and hands,” he recalled, shifting uncomfortably in his chair as he speaks.

The father to a teenage girl, Serinane said as summer approaches he is worried the tumours will begin to itch.

“As you can see, my teeth have fallen out, I put on sun glasses because my eyes often become itchy and the doctors say I may go blind if I don’t put them on. Two church pastors have donated the two glasses.”

The perils of living with neurofibromatosis
THEN: Ntlhogo Serinane

Serinane is used to children pointing and strangers staring at him in the street due to his unusual appearance – it is something the charismatic elder accepts with remarkable composure and grace.

Indeed he is not a lonely man and is in a tender relationship with a woman he loves very much.

Although the couple do not live together at the moment, Serinane revealed they talk to each other on the phone every day.

“We used to stay together here. I then helped her start up a tuckshop business; she thought the business will be more viable in Molepolole than where I am currently residing (Tsolamosese),” he explained, smiling happily to reveal a face without many teeth; however, as he removes his sunglasses, he reveals eyes alive with love.

What is Neurofibromatosis type I (NF 1)?

Neurofibromatosis type 1 (NF1) is a genetic condition characterized primarily by changes in skin colour and the growth of benign (non-cancerous) tumours along the nerves of the skin, brain and other parts of the body.

The severity and specific features can vary greatly from person to person. NF1 belongs to a group of related conditions called the RASopathies.

These conditions have some overlapping signs and symptoms and are all caused by genetic changes that disrupt the body’s RAS pathway, affecting growth and development.

NF1 is caused by changes (mutations) in the NF1 gene and is inherited in an autosomal dominant manner.

In about 50% of cases, it is inherited from an affected parent. Other cases result from a new (de novo) mutation, occurring for the first time in people with no family history of NF1.

Treatment is based on the signs and symptoms present in each person.

People affected by NF1 have an increased risk of developing many different types of tumours both benign and malignant (cancerous).

Almost all people with NF1 have neurofibromas, which are benign tumours that can affect nearly any nerve in the body.

Most will develop these tumours on or just underneath the skin; however, neurofibromas can also grow in other places in the body and may even affect multiple nerves.

Malignant peripheral nerve sheath tumours, which also grow along the nerves throughout the body, are the most common cancerous tumour found in people with NF1 and occur in approximately 10% of affected people.

In children with NF1, the most common tumours are optic glioma (tumours that grow along the nerve leading from the eye to the brain) and brain tumours.

Optic gliomas associated with NF1 are often asymptomatic although they can lead to vision loss.

Other symptoms of NF-1 include brownish-red spots in the coloured part of the eye called Lisch nodules, bscoliosis (curvature of the spine), learning disabilities, vision disorders, mental disabilities, multiple café au lait (TCL, name of specifics spots) spots and epilepsy.