Through The Lens Of My Eyes…An Analysis

Through The Lens Of My Eyes…An Analysis

Fortunately and Unfortunately,after the Abrogation of Article 370,i got a chance to visit SKIMS with my elder cousin who is persuing her B.Sc course there,in the month of september,as i remember,she was asked by the administration to work as a volunteer as well as have clinical assessments completion simultaneously.
On her 3rd week of work,as per the roaster,i was along with her and had to go to the Day Care Radiology adjacent to Day Care Hematology in the Casuality.It was the day we arrived earlier than others and so,one of the doctor on duty asked her to go through the reports of the patients (diagnosis,treatment,disease,etc etc).I saw with her the first case of a 3 year old girl child from South Kashmir’s Anantnag District.She was sufferring from;polycythemia,cardio-vascular diseases,neurological disorders,leukemia,etc.Why she was sufferring from so many diseases?Yes!her karyotype revealed that she’d some genetic disorders ie)18th chromosome trisomy(edward’s syndrome),21st trisomy(down’s syndrome),And,X chromosome monosomy(turner’s syndrome).A medical student can understand what comes in the form of collection of symptoms due to these disorders,mental retardation,low IQ,permanently open mouth,sterility,etc etc.You may say that it rearly happens,no,it is not so! But,it’s increasing.I can’t let it get buried like a quarrel in oblivion.Her father who is a labourer have to travel 100s of kms inorder to get his daughter treated and adding to this,he dont know that his daughter wont survive more than 2o and upto that wont be able to live a normal life.My spirit was sinking at that moment,my breathe got chored and my eyes went sore.It is important to mention here that,since past few years,a number of suspected cases of genetic disorders (including new/known monogenic diseases and other known genetic diseases with atypical clinical features) have been reported from J&K region…Cases of chromosomal genetic disorders (such as Down syndrome,Turner syndrome,Klinefelter syndrome,patau syndrome;anaemias,blood disorders (including thalassemia),congenital anomalies, disorders of sex development,metabolic disorders like G6PD deficiency,neurological disorders and others are frequently reported in j&k…The detrimental effects of consanguinity and inbreeding depression on child health and mortality, cognitive behavioural and fertility and an increased risk of cardiovascular diseases in small population from J&k has also been reported…In a four year period(2005-2009),a total of 161 individuals of different age groups presenting clinical profile like genetically uncertain syndrome,multiple congenital anomalies,short stature,facial dysmorphism,abnormal behaviour, unclassified mental retardation and down syndrome were referred to the Human Genetic Research cum counselling centre,Jammu…Chromosome study was carries out in all the referred cases,when the chromosomal abnormalities were detected in 91(56.52%) individuals…Besides chromosome study,some non-cytogenetic factors like maternal age,male:female ratio,birth order and consanguinity have also been studied to find out the possible association of these factors with chromosomal aberrations in referred patients…The population of J&K region,is expected to be an unexplored reservoir of genetic disorders.The J&K population is characterized by several endogamous groups with specific marital affinities,including the practice of consanguinity…In addition,the geographical isolation of various groups due to complex terrain may provide J&K a unique genetic architecture and disease profile… Unfortunately,the region has largely remained unexplored in the context of genetic based research…This has potentially contributed to the ignorance of a large number of hereditary diseases which are likely restricted to specific extended families or communities on a whole…Advanced high-through put genomics-based approaches have,however,outpaced genetic research in J&K and precise diagnosis of some monogenic disorders,which are otherwise rare in prevalance across the globe but are likely to have attained higher incidence in the region due to higher inbreeding rates.
I want to draw some important points with respect to my own prespective.The ignorance of the illiterates is a major cause.Like in the above case,we can understand the gynaecologist her mother used to consult have had to tell her to go through CVS(chorionic villus sampling) which is specially designated for visualising genetic disorders in the embryos and if has,then followed by induced abortion.But,unfortunately most of the people either dont know due to their illiteracy or they ignore it.Sometimes,even regular check-ups are missed.People must realise that if a doctor tells them to go through a test or a treatment then it’s for their own benefit because a doctor knows very well where does the problem lies.We cannot neglect here the use of equipments and sophisticated machinery requried for such techniques.You wont believe but just upto yesterday,GMC Anantnag lacked even the laproscopes.It is also a problem in our administration that they lack to provide us with the required machinery. Although, I cannot neglect the reality that we owe our belonging to a developing country and so,it’s to some extent difficult for our nation to have brought all equipments,but maybe in the future we will have all devices available with us.It may not escape our eyes that we have some accidental professionals in the field of medicine.Sometimes it’s because of their carelessness that we get threats or remain unware of a disease upto major symptoms arise for years.The case of late marriages is the main cause of genetic disorders(segregation of chromosomes fails leading to trisomy,monosomy or nullisomy).Our society should adapt the norm of early marriages,it will benefit them both ethically as well as biologically.But the problem of dowry has blocked the way for our girls from poor families.Maybe because a family fails to fulfill all demands of the opposite family is the cause for late marriages.But,I think people must start realising that although dowry is in our society from long back but it must be affordable.Why to get so many expensive gifts,decorations and clothes for the marriages.Simple marriages are beautiful at their own place.The responsibility of change and reformation is,perhaps,wholly and Solly on the shoulders of our youths. At the end,I want to say that awareness is must.
We,every common person needs to rise above such cases,beat the bush through the heart and the soul like if we have to move the heaven and the earth.its an uphill task but it needs a collective participation of every person(interms of awareness programs).Although chaos but we know calm.
Together we can!!

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