Neurofibromatosis: Learn the symptoms of this genetic condition

Neurofibromatosis is a rare disease with the estimation of around one in 3,000 people living with this condition.

However, that does not mean that there is zero help for those diagnosed in the disease, especially in this country.

Universiti Kebangsaan Malaysia (UKM) Neurosurgeon Prof Kamalanathan Palaniandy explains that Neurofibromatosis type 1 (NF1) is the most common among the three variants of Neurofibromatosis.

Prof Palaniandy said Neurofibromatosis is a genetic condition with three conditions - Neurofibromatosis type 1 (NF1), Neurofibromatosis type 2 (NF2) and Schwannomatosis involving the development of tumours anywhere that nerves may be present, affecting the brain, spinal cord and peripheral nerves.

He said the basic connotation of how people look at this disease is by small lumps or discoloration on the skin, which is the most common symptom.

Unfortunately, there is no database that can give accurate numbers for the disease in Malaysia.

Neurofibromatosis type 1 (NF1), specifically, is a genetic condition with autosomal dominant inheritance where just having one of the chromosomes with the defective gene will cause you to have manifestation of Neurofibromatosis.

Assuming that one parent has NF1, there is a 50 per cent chance for the child to inherit the gene mutation. But there is also the de novo mutation or spontaneous occurrence where the patients have no family history of the condition.

What are the symptoms of NF1? Among the common signs of the condition are freckles or brownish spots called cafe-au-lait spots on the skin, presence of bumps on or under the skin, larger areas on or under the skin that appear swollen and skeletal abnormalities.

More concerning rather than these physical signs are the difficulties the patients may face depending on the part of the body affected by the condition.

They might have difficulty with their hearing and also eyesight if they are associated with optic glioma (tumour on the optic nerve that may interfere with vision). If it is in the spinal column, then they may also have issues with strength and balance.

He explained that NF1 is also able to occur in the cutaneous nerves of the face. A few patients have a rather bad case of disfigurement, which naturally means that it is possible for the condition to affect the self esteem of the NF1 patients.

There is also the increased risk of secondary malignancies, such as Rhabdomyosarcoma (cancer of soft tissue, connective tissue or bone) and Pheochromocytoma (rare, usually noncancerous tumour that develops in an adrenal gland).

Prof Palaniandy further revealed that NF1 patients are prone to psychological problems, namely attention deficit hyperactivity disorders (ADHD), anxiety issues and about 30 per cent of them are associated with depression.

In extreme cases, some may refuse to leave the house due to the physical symptoms - large tumours on skin, spots, disfigurement that causes them low self-esteem.

LIFE EXPECTANCY

How about the life expectancy of a patient with NF1? Prof Palaniandy said that their life expectancy is generally reduced by about 10 to 15 years.

For Malaysians who generally have an average life expectancy of 75 years old, there may be a reduction of almost 20 per cent for someone diagnosed with NF1.

It should be understood that this is a genetic condition, meaning that they actually have the condition since birth. What makes a difference is how quickly they get diagnosed.

In fact, you may also have those who are walking around with Neurofibromatosis, who may not even be aware that they have it. Most people only get themselves checked after physical or neurological manifestations.

A study in Northern Ireland recorded the average age of diagnosis among children was around 4 to 5 years old.

MULTIDISCIPLINARY TEAM NEEDED FOR DIAGNOSIS

According to Prof Palaniandy, the importance of having a multidisciplinary team is crucial in improving the patient journey, from diagnosis right up to the treatment. He stressed that it involves a wide spectrum of people and not only healthcare staff but also parents, social workers, and the community at large.

He said the obstetrician, neonatologist, paediatrician, medical officers and midwives involved in the process of childbirth and early childhood screening could be the key to diagnosing NF1 as they are often the first point of contact with the patients, hence facilitating early diagnosis and intervention.

Awareness among the parents themselves as well is important.

The government could also take a step forward in helping the patients move forward and improve their lives in terms of legislation – to make healthcare for these patients with these rare diseases accessible as this case can be financially taxing.

A specialised centre where a group of health experts will be able to contribute in their own expertise is a good idea so that the patients with these neurofibromatosis or any other rare disease could be given appropriate and holistic care.

The challenges faced by the caretakers should be taken into account. There are potential physical, financial and social stigma involved in the care of these patients. These could result in immense psychological burden on them.

In Malaysia, there are resources such as the Malaysian-based health portal ‘mySihatPal’, compiling various conditions in a digital form that allows access to information for such conditions. Prof Palaniandy recommended the portal since it provides the public information, what to expect, who to reach for and advice for the caretakers.

The patients and their caretakers are encouraged to come forward and ask for help because even if there is no way of reprogramming the genes, the quality of their lives can be improved.

Patients and their caretakers are encouraged to come forward and seek help as there are options of medication or surgery which do not cure the disease, but at least can improve the quality of life of both patients and caretakers. As far as the subject of gene therapy, he said at the moment it is still very much in the experimental stage.

In Malaysia, those who think they are afflicted by the condition are encouraged to seek advise from healthcare facilities which they are comfortable with. Apart from that, he also mentioned a website called ‘mySihatPal’ which compiles reliable information on conditions such as NF1 for both patients and caretakers alike.