In an interview with ETHealthworld, Dr. Sheela Namboothiri, Head, Paediatric Genetics, Amrita Institute of Medical Sciences, Kochi, talks on the lack of attention and awareness about genetic disorders in India. Edited excerpts: <\/p>\n
Tell us something about the high incidences of genetic disorders in India. <\/p>\n
One of the main reasons is the positive consanguinity. There are a lot of people who marry blood relatives and it is very prevalent in certain parts of India, especially in southern and northern parts of the Kerala. Other area where the consanguinity is very prevalent is Karnataka, Tamil Nadu and Andhra Pradesh. <\/p>\n
Whenever people marry first cousins or a distinct relative what happens is that the chances of them to share the defective genes go up and so there is a high chance of them to have children with genetic disorders. <\/p>\n
Even if there is no treatment option for genetic disorders, do you think genetic diagnosis is relevant? <\/p>\n
It is very important because once you have a concrete diagnosis then only you can offer prenatal diagnosis for this couple. If they have one child who has a genetic disorder for which there is no treatment available, the parents are extremely upset and go from post to pillar for diagnosis. <\/p>\n
They have real guilt in their mind because once they go to many hospitals they get to know that it has been branded as a genetic disorder. They think that they have given a defective gene to their child. <\/p>\n
We should communicate with them, telling them that we are all human beings and we all have defective genes in our body. It is not their fault and this takes off the guilt part from their mind. It is extremely important for them to have a concrete idea so that they can do what is useful for that child. <\/p>\n
How do you see the treatment options for genetic disorders? <\/p>\n
People have a belief that there is no treatment aspect but currently there are certain genetic disorders for which treatment options are available. <\/p>\n
The treatment for Lysosomal Storage Disorder is enzyme replacement therapy. Currently, we are treating 11 patients with lysosomal storage disorders in our own department. <\/p>\n
Metabolic disorders definitely have treatment options if they have been diagnosed at the early stage and so it is extremely important to make a diagnosis at a very early stage so that the complications can be prevented. <\/p>\n
What prompted you to start with the department of Pediatric Genetics at Amrita? <\/p>\n
I have been working as a paediatrician for 12 years and then I got interested in genetics. I had my post graduate training in Genetics from the University of Glasgow from Scotland, came back and started this department in 2005. <\/p>\n
This department has been there for the past 11 years and I am extremely happy that now we are able to help families with genetic disorders mainly from the point of view of making diagnosis. <\/p>\n
In Kerala, the people are very much health conscious and there are many self referrals because now people are much more aware of the genetic disorders and the need for making diagnosis at an early stage. <\/p>\n
Give us some insight on skeletal dysplasia. <\/p>\n
My main area of interest is skeletal dysplasia, this group of patients have short stature and curved bones. These patients were always neglected and all were just clumped into one group of genetic disorders. <\/p>\n
The main matter is that you want to know what exactly the patient is having so that at least we can prevent it in the future pregnancy. <\/p>\n
The other thing is that there are some type of skeletal dysplasias for which treatments are available mainly in the form of a surgical repair. This way at least their morbidity can be reduced and they can live a better life. <\/p>\n
Please tell us more about lysosomal storage disorder? <\/p>\n
LSD is a condition where you have more than 50 disorders and in about 7 conditions there is treatment available. The main treatment is in the form of enzyme replacement therapy and currently for 5 conditions we are treating patients with LSD in our hospitals. <\/p>\n
The conditions are Gaucher's disease, pompe disease, mucopolisacaridosis type I, type II and fabry disease. In these 5 conditions, what happens is that you want to make a diagnosis at an early stage because if the permanent damage has happened then it is very difficult to revert the systems. <\/p>\n
The caveat here is that it extremely costly so patients cant pay from their own pocket. In India the main problem is that patients are paying from their own pocket whereas in western countries, the government this responsibility but here it is still in its infancy. <\/p>\n
How did Namboothiri syndrome get its name.Your role and contribution? <\/p>\n
There are more than 30,000 syndromes which have been named and when a new syndrome is identified which cant be fitted in with any of the known syndromes then it should be publicized in an international journal and it should be presented in the American Journal of Human Genetics meeting, where the experts will be accessing whether it is a completely unknown syndrome and then at some point in time that syndrome will be included into the London Dysmorphology database. <\/p>\n
Many years back 2 patients who were siblings had come from northern parts of Kerala and both of them were having some abnormality of the feet. They were severe mental handicap with changes in the face which were not described before. <\/p>\n
All the other conditions which could have some similarities with this condition were ruled out. It took somewhere around 56 years for us to formulate the condition and even now the gene has not yet been diagnosed. So we are in the process of identifying the gene which is responsible for this condition. <\/p>\n
Tell us something about Amrita's role in supporting children with Down Syndrome. <\/p>\n
We in the past 11 years have seen around 750 children with Down syndrome and it is extremely important for having to do something little extra for these patients rather than saying that you have the condition for which there is no cure. <\/p>\n
There are so many families that as upset, so we wanted to go a little ahead and have a support system or support group so that the parents can have a helping hand from the other families who had gone through the same situation and how they coped with this situation. <\/p>\n
It is named as Prathyasha, which means 'something to look forward to' in Malayalam. Here we conduct meetings twice a year where we call the families and experts who are handling children with Down syndrome. At the end of the program we give an opportunity to the children to express their talents. So every year the families really look forward as they find it very interesting to come and attend the function. <\/p>\n
What is your message for pediatricians and others who deal with multiple abnormalities? <\/p>\n
In many situations where a child has multiple abnormalities it is always written as multiple abnormalities and that is not going to be advantageous because we dont know what exactly the other child had. So if a child has very severe abnormalities then the child should be showed to a paediatrician and all the genetic features which you can see from outside should be documented. <\/p>\n
Today everybody has a smartphone, we should always take a photograph of the child or a x-ray. These are two simple things which can be done by anybody which will help a lot because rather than saying that this child had an abnormality of the hand, we can see it in a photograph or the x-ray. <\/p>\n
So this will be helping the geneticist in making a diagnosis in many situations and mainly in the skeletal dysplasia. Whenever you dont have a diagnosis it is always advisable to store EDTA blood sample for future DNA studies as it will be very useful if we need it at any point of time. <\/p>\n
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See the article here:<\/p>\n
In genetic disorder cases, it is very important to take off the guilt from the parents mind: Dr. Sheela Namboothiri - ETHealthworld.com<\/a><\/p>\n","protected":false},"excerpt":{"rendered":" In an interview with ETHealthworld, Dr. Sheela Namboothiri, Head, Paediatric Genetics, Amrita Institute of Medical Sciences, Kochi, talks on the lack of attention and awareness about genetic disorders in India. Edited excerpts: Tell us something about the high incidences of genetic disorders in India. Continue reading