Early diagnosis reduces disabilities from MS | Sunday Observer

Early diagnosis reduces disabilities from MS

25 July, 2021

When the World Brain Day is observed on July 22, neurologists from across the world came together to once more declare their goal of enhancing public awareness on various brain related disorders.  

The theme for 2021 is ‘Stop Multiple Sclerosis’ (MS).  The objectives are to highlight the urgent need for early diagnosis of multiple sclerosis and advocate for access to health care, most importantly, to effective treatments that can substantially reduce disability.

The Sunday Observer spoke to Consultant Neurologist at the National Hospital of Sri Lanka ( NHSL) and President of the Association of Sri Lanka Neurologists (SLN) Dr Gamini Pathirana to find out more about this comparatively little  known disease, how it is caused and its treatment and management options.

In reply to what Multiple Sclerosis is and its treatment options, he said it was  a disease of the central nervous system (CNS) meaning brain and spinal cord. “This condition causes demyelination meaning damage to the myelin sheath, the covering around each neuron which is the unit cell within CNS. It is possible that antibodies formed against viruses may attack myelin sheath due to similarity of those targets, termed as molecular mimicry. Hence the treatment for this condition involves suppression of immunity with strong medications.”

In answer to a question on what parts of the body are commonly affected and their health impacts, he said the common sites for attack involve optic nerve (causing optic neuritis), spinal cord (causing transverse myelitis) and other areas within CNS. “ Optic neuritis may cause sudden blindness in an eye. Transverse myelitis may cause sudden weakness in both legs. Internuclear ophthalmoplegia’ is another classic presentation of this condition where a patient develops double vision of sudden onset,” he said.

Responding to our question of the time duration of the disease progression and the average age and gender of the patients, he said that MS has been a progressive neurological disease which reduces neurological functions gradually over a period of time. Mean age of diagnosis is 32 years and it is common in females, a time when many are planning a family and building careers.”

On diagnostic tools available to Lankan patients he replied,” Thanks to the advent of Magnetic resonance imaging (MRI) technique to study brain disorders, diagnostic armamentarium is now expanded. In Sri Lanka more patients are being diagnosed with this condition over the years. Once they present with initial clinical condition, management involves short duration of  high intensity immune modulation following which an assessment for recurrence and progression is made in order to decide whether further long term immune modulation is required.” He further said that, in Sri Lanka the Government provides certain lower efficacy drugs free of charge for patients.

Asked why certain people develop this disease and others do not develop this disease, he told Medi Snips that it was because of genetic predisposition among some people and immediate environmental issues.  If you migrate to a temperate country from a tropical country or vice versa before puberty you run the risk of developing the disease which is equal to your destination country,” he said. He also said that Vitamin D deficiency which is common in countries with poor sunlight (temperate countries) and Smokers were at higher risk of developing this disease.

Commenting on gaps in MS care the program which should be filled, he said extremely rare patients who have aggressive disease needed the higher efficacy drugs which are not available at present in Sri Lanka. “I personally think international bodies such as Multiple Sclerosis International Federation (MSIF) should consider a way of extending its availability to those rare patients in the developing world at a cost affordable to them by a mechanism similar for example to COVAX project which is led by Coalition for Epidemic Preparedness Innovations (CEPI) and WHO with regard to Covid-19 vaccines”, he said.

“Progression and cumulative disability among such patients can be prevented  by making effective treatments available so that governments, health authorities could work out a mechanism to make these treatments available for those who need it”, he said.

Birth defects, leading cause of neonatal deaths - Neonatologist

While Sri Lanka’s low maternal and infant mortality rates have won international acclaim, the effects of birth defects in new born babies continues to be a matter of worry and concern to health officials. 

The Sunday Observer asked Consultant Neonatologist attached to the University Neonatal Unit, De Soyza Hospital for Women in Colombo and Senior lecturer, Department of Paediatrics, University of Colombo, Dr. Nishani Lucas to spell out some of the most common birth defects in Sri Lanka, at what stage of pregnancy they occur and their current incidence  according to latest studies .

Citing the World Health Organization (WHO) she said that birth defects were  structural or functional abnormalities that are present at birth.” Congenital heart disease and musculoskeletal disease appear to the most common birth defects in Sri Lanka according to two studies at Mahamodara Hospital, Galle in 2012 and Sri Jayewardenepura Hospital, Colombo from 2015 – 2017.  “They can occur at any stage of the pregnancy. Majority occur during the first 3 months of pregnancy as this is the time of organ formation. “

Commenting on the incidence of birth defects , she said that according to the two studies mentioned above, the incidence of birth defects in Sri Lanka is reported to be between 2.6 %– 4.3% according to these two studies adding that birth defects is the leading cause of neonatal deaths in Sri Lanka.

Responding to a question on whether there were different categories of birth defects ranging from mild to severe  she explained, “ There are lethal defects like hypoplastic left heart syndrome and anencephaly which are not treatable and result in still birth or infant death. These accounted for 3% of birth defects according to the study done at Sri Jayewardenepura Hospital from 2015-2017. There are severe defects like diaphragmatic hernia, complex congenital heart disease that cause handicap or death without surgical /medical intervention. These accounted for about half of the birth defects. Then there are mild defects like increased number of fingers (polydactyly), ear tags (pre auricular tags) etc which may or may not need medical/surgical intervention but do not have an effect on the life expectancy.

“To our question on how birth defects could be detected, she said, “ Some birth defects can be detected by prenatal blood tests and by antenatal ultrasound scanning”.

On treatment of such defects, she opined,” Birth defects are better prevented than treated after occurrence.

To our inquiry as to how this could be done, she gave the following advice to would be mothers and pregnant women:  “Taking pre-conceptional folic acid when planning a pregnancy minimises the chance of neural tube defects which is a birth defect of the nervous system. Avoiding alcohol, tobacco, and street drugs when planning a pregnancy and during the pregnancy will also prevent birth defects.

Avoiding raw foods like raw milk and soft cheese like feta and brie would minimise the risk of listeria infection which is a cause for birth defects. Avoiding non-prescription medications when planning a pregnancy and during the pregnancy can also prevent birth defects, as treatment for severe acne like isotretinoin can lead to severe birth defects. The safety of all prescription medications should be checked with you doctor if planning pregnancy or if pregnant as medication that are otherwise safe may be harmful for the developing fetus.”

She said that it is also important to maintain a healthy weight to reduce risk of diabetes. “Strict control of diabetes is important for those who already have diabetes, as high sugar levels that result from poor control increase the risk of birth defects. The presence of diabetes during the first three months increases the risk of baby having birth defects in the nervous system, cardiovascular system, digestive system as well as the genitourinary system,” she warned.

Those planning a pregnancy or are already pregnant should also try to minimize the risk of getting infections that are more likely to result in birth defects. Planning the pregnancy when both mother and father are between 20- 34 years will also reduce the risk of birth defects by minimising the risk of damage to genetic material in the egg as well as in the sperm.”

She urged all couples to plan their pregnancy carefully, reiterating that, “Most birth defects can be prevented by carefully planning your pregnancy.”