Human genetic studies program at Colombo Medical College:

A ray of hope to improve quality of life

By Dhaneshi Yatawara

Genes decide who we are and to an extent how healthy our lives are going to be. Our physique, characteristics, talents, skin colour and many more as well are based on genes. Among these categories, genetically transmitted diseases pose a great risk for the human life. Many genetics disease do not have a definitive cure, as we all know. But that alone does not mean it is the end of life.

Genetics clinic

Many genetic diseases or disorders can be stopped from passing to the next generation by taking the right decision at the right time. Even the most painful neurodegenerative disease such as Spinocerebellar ataxia (SCA) that would bring an early end to a person's life, has a ray of hope to improve the quality of life.

"There are number of ways that can support a patient suffering from unavoidable genetic diseases and it's very unfortunate that some families think that having a family member with a genetical disorder or a disease is the end of their world when something can be done to bring relief in such a situation," said Professor in Anatomy and Medical Genetics of the Colombo University Prof. Vajira Dissanayake.

According to Prof. Dissanayake in the Sri Lankan population one in ten have rare disorders and although individually rare when taken as a group it counts up to a significant number. Genetic disorders can create a whole package of problems socially, economically for an affected family. In order to address many of these situations to a greater possible extent, the Human Genetics Unit of the Medical Faculty of the University of Colombo have started a Clinic dedicated to people Genetic disorders and family histories.

The clinic has been officially functioning since 1983 established under the leadership of Prof Rohan Jayasekara. Since last year the Human Genetics Unit has been trying to revamp the clinic and today it functions all five days with more staff and attending to genetic problems under five different categories.

Dr. Nirmala Sirisena	Prof. Vajira Dissanayake	Dr. Dulika Sumathipala

Though disorders such as SCA strike a person later in their lives some conditions start showing symptoms from infancy. And some cases result in infant deaths. According to Prof. Dissanayake addressing problems related to Genetic disorders becomes crucial as birth defects count up to 20 percent of the total infant deaths in Sri Lanka. Today in Sri Lanka the infant mortality rate is 9 in to 10,000 births.

"Birth defects are there in any population. But usually what happens is because there are common diseases such as infectious diseases, diarrhoea, respiratory diseases and so on, where people do not pay much attention to birth defects. And the other reason is that a family having a person with birth defects tend to hide that person and seek treatment individually," said Prof. Dissanayake explaining true situation prevailing in the country.

"If our country needs to improve the infant mortality rate we need to start looking at minimising birth defects in infants. If we can reduce these birth defects then our infant mortality rates will come down further making our health indices much better," he said.

As Prof. Dissanayake said, the general feeling is that nothing can be done for birth defects. "But there is a lot that can be done and we have to take appropriate steps for make the condition better. One can see medical attention, seek solution through counselling and so many other options to help in these situations," he said.

Most common birth defect seen in Sri Lanka would be Down's Syndrome and another example would be Turner's Syndrome. Warning signs would be instances such as families who had children with birth defects, couples experiencing sub fertility, repeated miscarriages. And in some cases a newly born infant dies without a known reason. In other cases children who are born grow up with various problems. They do not look normal, they have problems in learning and growing - these are some of the warning signs of birth defects that may occur in the next child. "Most of these cases have no proper diagnosis either. They go on using terms such as development delays etc. And then people live with it," said Prof. Dissanayake.

Public awareness

"Actual situation is that those parents can be supported to have a another normal child. Sometimes parents come to us 10 - 12 years after the first child but by then parents are old and in a risky age to conceive," he said. Families with such risk factors need to go in for further investigations and referred to correct medical advice, he said.

Slowly but steadily we see an increase in awareness among the public, said Dr. Nirmala Sirisena Clinical Geneticist and Lecturer at the Human Genetics Unit. Geneticists could see an increase in the number of patients coming for consultations.

Dr. Nirmala Sirisena is one of the Clinical Geneticist working in the Genetics Clinic and is in charge of the Thursday clinic dedicated mainly to cancer patients and persons with a family history of some sort of a cancer. Among her patients a young woman came in with a family history of breast cancer. "Her mother was undergoing treatment for breast cancer and her grand mother have had breast cancer as well. So the daughter came to the clinic to see what could be done to avoid her having breast cancer," Dr. Nirmala started explaining.

"There was a high possibility for this woman to develop breast cancer with records from two generations and we carried out several tests on her," she said. Yet the woman did not have any early signs of breast cancer at the moment but there were indications she is prone to the illness. "As a preventive measure she agreed to perform mastectomy - the breast removing surgery done as a preventative measure. And she did not develop breast cancer like her mother and grandmother," Dr. Nirmala said.

Another horrific case was discovered by the Genetics clinic existing in three small villages deep down in the Southern Province. Through a Colombo university student few patients visited the Genetics clinic and were referred to the two professors of the Human Genetics Unit - Professors Rohan Jayasekara and Vajira Dissanayake.

Mysterious disorder

The disorder was identified as a rare nurodegenerative disorder named Spinocerebellar ataxia or in short SCA. This is a hereditary disorder that result in degeneration of the nerve cells in the Cerebellum which is mainly responsible for keeping our balance. Though SCA is genetically transmitted, symptoms of the disease strike in adulthood.

According to the research these villagers have experienced the onset of the disorder between the ages of 20 - 30. "Many of the patients I examined at the clinic were around 30 - 40 years and symptoms were according to the typical clinical picture. From the patients themselves I got to know that there is a whole lot of cluster back in their villages who have not had been to medical practitioners at all. Mainly because they knew that it was incurable," said Dr. Dulika Sumathipala, Clinical Geneticist and lecturer in the Human Genetics Unit. Though SCA is genetically transmitted, symptoms of the disease strike in adulthood.

The trip to these three villages following the information lead the path towards a unique research in the Sri Lankan medical field. Doctor Sumathipala is a member of the team that did this research on these villagers' mysterious disorder. Through the research it was confirmed that this is Spinocerebellar Ataxias (SCA), the genetically acquired disorder.

The research team from the Colombo University Genetics Unit comprised of Professors Vajira Dissanayake and Rohan Jayasekara and doctors Dulika Sumathipala, Gayan Abeysekara and Chantal Tallaksan from University of Oslo.

Speaking on behalf of her team Dr. Dulika said that they were able to examine nearly 35 persons from all walks of life who were partly paralysed or completely bed ridden. "Over generations these people have been goldsmiths and they were saying that the heavy metals and chemicals may have poisoned them," she explained about the misconception that these people blindly believed.

One litre of tears

In a world famous book 'one litre of tears' written by a Japanese girl named Aya Kito who suffered SCA made the world realise the true suffering of these patients. Aya suffered for nearly ten years and died at the age of 25. Fortunately she had the accessibility to all the other supportive measures extended to these patients. Yet not for the people of the three Sri Lankan villages.

The mysterious disease has been horrifying these three villages over six to seven generations. They believed it was a curse on the family line and had never been to a medical practitioner. Earlier generations must have gone to medical practitioners and probably they have got to know that the disease has no cure.

And the next generation paid less interest to go for medical treatment," said Dr. Dulika Sumathipala. "Other sad part is that the if either of the parents carry these genes the child has a 50% chance of getting the disorder. And many of these families keep these patients in a very remote room of the house. The patients tend to develop a respiratory tract infection and die," she said.

To keep this disorder as a secret, people living in these clusters were marrying members of their own extended family - blood relatives. When that happens the disease continue to transmit from generation to generation, she said. The social stigma these people carried added misery to the unending suffering of these people.

According to Dr. Sumathipala these people were not aware of the options that were available and would have supported them to get out of the this neuro degenerative disorder. They have been totally unaware of the fact that the use of physiotherapy could have improve the living conditions of the affected people.

They were not aware of reproductive options modern sciences offer such as In vitro fertilisation (IVF) with donor eggs and sperms could stop the disorder being passed on to the next generation. "Though such neurodegenerative disorders do not have a cure there are numerous options like physio therapies, speech therapies that would support the patient," she said.

In many genetical disorders this is the true situation prevailing in Sri Lanka. This is where the Human Genetics Unit of the Colombo Medical College were able to intervene and educate these people using the facilities of their Genetics clinic.