As ignorant as I am, I had long been waiting for an impetus dragging the impulses through my nerves to guide the course of my wandering mind in some defined direction and the blessing met me when I decided to uptake a scientific project on a neurodevelopmental disorder called Fragile X syndrome (FXS) which directed me straight to unravel the mystery of some unasked questions. Though the department of biotechnology in the University Of Kashmir is considered the top notch among other lifescience departments in its modernized workstations and sophisticated instrumentation but still the initial phase was like a run-of-a-mill job because dealing with lab works in Kashmir comes almost next to a Herculean task and you keep striving all the time either for a leaky autoclave setting, frequent power cuts or for an incubator of a suitable temperature. I always knew the scientific world outside the lab too is fascinating and worth exploring and it took not so long for me to realize the impact of voids within the system, which directed me to pursue a different path of research. What could have been more fortunate than to be working under the supervision of Dr. Abrar Qurashi himself, who is a Ramalingaswami fellow having long been associated with the epitomes of prestige and excellence like IGBMC at University Louis Pasteur (ULP), Strasbourg, Emory University School of Medicine, Atlanta and Icahn School of Medicine at Mt. Sinai, New York. He had been working there on dissecting the molecular basis of FXS and a related disorder called FXTAS for years and today he represents the lone figure in the entire valley operating the concept of FXS/FXTAS singlehandedly and his lab being the only one working on this disorder. Somehow this queer rarity kept me luring to the story and the interactive sessions with my guide too began to increase gradually until some of his questions startled my mind into action. He once said to me if the reason of intellectual disabilities is what you seek from me, I would say the major chunk of the answer lies within the FX spectrum. He then laughed and added but the rest is for you to know ..The agonies and the ironies, the tales of FDA approved drugs, perhaps meant for only you and me to learn about. That came like not an answer but rather a puzzle for me to solve and for which he himself directed me to interact with the leading psychiatrists of the valley and the eminent figures of the scientific world. Henceforth, in the quest of satiating my unending queries, I came to some conclusions worth sharing here.
Although the pace of Intellectual Disability (ID) and Autism Spectrum Disease (ASD) recognition among masses has accelerated in the recent years, in part due to social awareness campaigning and successful movies based on a lead autistic character, but my concerns revolved round the predicament of the unaware affected populace whom I doubt were even conversant enough to have realized the significance of this disorder. During the course, I was surprised to discover the traces of ignorance emerging from the professionals and policy makers as well. As a common man, it is not much difficult to recognize an intellectually disabled case as it is easily characterized by significant limitations in both intellectual functioning and adaptive behavior including conceptual, social, and practical skills. I talked to one of our collaborators, Dr. Arshad Hussain, HOD psychiatry SMHS and came to know that they determine these limitations by some standardized tests which enable them to classify the subject in ID/ASD category. But then this step, in essence, was neither a diagnosis nor the end of the story. Terms like intellectually disabled or Autistic actually depicts only a certain medical state which might have resulted from numerous different reasons or underlying disorders. I wondered! Under such circumstances, should our target be to deal with the apparent state of the ID case or to address the underlying disorder? I wanted to know the pros and cons of the mechanisms that are currently governing our human pathobiology and I learned that the traditional characterization of such a medical condition in practice depends largely upon correlation between the clinical presentation and the existing pathological findings which results into the disease being defined on the basis of manifest signs and symptoms. But its quite discernible that adopting such a practice has been overgeneralizing the situation which has left no gap to individualize the disease diagnosis or therapy. Further, many of the cases do not even show typical symptoms till late adolescence. Among many of the neurodevelopmental and neurodegenerative disorders which can possibly pave way to an autistic condition or inherited intellectual disability among populations, Fragile X syndrome (FXS) is considered to be the leading one, however it may be made clear that this consideration is based on published data from European nations and some of the Asian countries like China. So how about the less privileged states like Jammu and Kashmir? As of now, we have neither the prevalence data available nor the effective diagnostic strategies, the reason of which might stem from innumerable factors ranging from contemporary views of medical professionals as well as general public to the translational delay of new scientific findings into effective strategies. Though mutations that lead to such disorders occur early during the embryonic development but as per the recommendations made by American academy of Pediatricians and American College of Medical Genetics, children are possibly screened at the earliest for any undiagnosed developmental delay, ID or Autism. Now talking about the part of the world that we live in, it wouldnt be wrong to say that an Intellectually Disabled case here gets recognition only after consideration by some intellectual fellow which usually happens after many years of onset and restricts the concept of preclinical manifestations and early interventions.I made many efforts to interact with the affected families in Kashmir and their respective doctors so as to understand what actually was going on. I failed! My people failed me as most of them couldnt even define the condition they were suffering from and those whom they claimed of having a better knowledge were least bothered to even answer. Only after talking to the patients living overseas, I understood how ignorance has accursed my nation into the depths of sufferings. Nevertheless I got an excellent response from the people of other countries. One of the patients from Johannesburg, Alan Evans, suffering from FXTAS explained to me how the severity of this disorder and the ways to deal with it are different for different people. He has been the patient of Dr. Hagerman, the pioneer of the fragile X field, Medical Director of the MIND institute at UC Davis, who is internationally recognized clinician and researcher of FXS/FXTAS. Surprisingly, only two things were prescribed to him; diet and exercise. Following Wahls protocol in diet which eliminated sugar and inspired by the results obtained from mouse model in research papers, the patient had tried the effects of taking zinc with 15% copper. He said It was amazing that the diet took away the pins and needles from my chest and back and brain fog after just 3 months of treatment. Turning back to the people of my place, we know how the pathetic condition of such patients here stays with them lifelong. Surely the ignorance here has successfully encrusted the necessary awareness among general public as well as in the professionals of the respective fields and has resulted into the treatment strategies directed at just to overwhelm the aggression or the apparent behavior of the undiagnosed intellectual disability cases.
One of the irony with fragile X syndrome is that it is often slow to reveal itself and may go undetected in the early years. So the children without severe symptoms may not receive remedial assistance on time in the western world. But should not it evoke strong concerns that a child with even severe symptoms here may not receive the correct remedial assistance in his entire life only because of unawareness and lack of proper diagnostic facilities?
Back to the tale of ignorance, psychiatrists from Kashmir have observed that many of the intellectually disabled (ID) or Autistic (ASD) cases show up to them only after bruising up their bodies to the trails of faith healers which I believe happens because most of the symptoms associated with Fragile X syndrome like tactile defensiveness, avoidance of eye contact, hyperactivity, hand flapping and perseveration in behavior and language are unfortunately also displayed by all the evil spirits supposedly possessing the subject. But this still is not more unfortunate than choosing the suppression of an evil spirit over the suppression of a gene mutation as plan A. To the people who had have a little or more exposure to such cases, ID/ASD might have appeared to them as behaviorally defined disorder, though it depends on both genetic and environmental factors. While the most significant cognition disabilities like ID or ASD can result from a wide range of medical conditions, the lions share is still attributed to be taken by FX family of disorders and the early detection can result in better treatment opportunities, appropriate management and improvement in functioning. It will also give an access over the risk determination for other family members and thus can lead to the prevention of the disorder. But here, the victim of ambiguities if somehow at some stage of his life even shows up to a psychiatrist, the behaviour and the apparent features can of course define a certain condition for him but in order to consider the best possible targeted treatment, its vital to understand the underlying disorder. For a disorder like Fragile X syndrome, today considered to be the most common cause of ID and ASD in the world, diagnostic tests like MRI does not suffice well as even with the positive report showing the presence of white lesions in middle cerebellar peduncles, only an atrophy is figured out. Given the fact that such atrophies can result from numerous other neurodegenerative disorders as well, the gold standard DNA testing for the diagnosis of FXS is a combination of Polymerase chain reaction (PCR) and Southern blot analysis which rightly has been termed as the most recommended and reliable method for FXS laboratory confirmation. Despite both the methods being quite simple and that every next person that you will meet in a scientific lab will know PCR and southern blotting well, there is not a single diagnostic laboratory in Kashmir where the suspected undiagnosed victims can turn to, for the screening of FXS.
We are not yet sure about the actual prevalence of this disorder in India as owing to the limitations that we face with the diagnostic procedures, no such study has been conducted yet. For that matter of fact, recently the meeting on formulation of national consensus guidelines on Fragile X Syndrome was organized by Indian Academy of Pediatrics in New Delhi on 25th February 2017 with the help of Dr. Randi Hagerman, the pioneer of the fragile X field, Medical Director of the MIND institute at UC Davis and internationally recognized clinician and researcher of FXS/FXTAS. The invited experts included Pediatricians, Developmental Pediatricians, Psychiatrists, Pediatric Neurologists, Geneticists, Clinical Psychologists, Remedial Educators and Parent Organizations. After extensive discussions, the importance of early intervention was strictly advocated in the Consensus Statement of the meeting and the main objective of this initiation was to contribute to the dissemination of knowledge on FXS among health professionals and thus improve the diagnosis and management of these patients. I tried to seek some answers from Dr. Randi Hagerman about the status of such disorders in the less privileged states like Jammu and Kashmir and she replied to me about her plans to put out a position paper on FXS that will go to all the pediatricians in India. I saw many families when I was in India this last spring. I think FXS is very common in India and maybe Kashmir too, said the most experienced person in the field and the discoverer of the Fragile X spectrum of disorders, Dr. Randi Hagerman. This further should strengthen our efforts to go for the furtherance of the diagnostics and generation of the prevalence data in different parts of India. Also she believes that FXS is leading the way in targeted treatments and such treatments will lead the way for much more testing. She was hopeful for the establishment of a testing laboratory in Kashmir and encouraged other centers to initiate such things as well.
I also tried to contact some of the most eminent figures of the scientific field from India to know their perceptions about the issue. Again I observed very poor response from them compared to my earlier interactive sessions with the influential personalities outside India and so from the people possessed by the demons of ignorance again, I had to limit my expectations. Nevertheless, Im thankful to Dr. Sher Ali, Professor, Center for Interdisciplinary Research
Jamia Millia Islamia, New Delhi, Former Head, Molecular Genetics Division,
National Institute of Immunology, New Delhi, for his exceptional response and concerns regarding the ignorance of health professionals and locals against FXS and related disorders.
He believes that the epidemiological data and record keeping in India is very poor and that the genotype phenotype correlation is equally poor. The robust epidemiological data provides working flexibility and an opportunity to formulate policies related to health care system. He also believes that Work is needed to establish a genetic correlation between neurological disorder caused due to a gene or genes and FXS. He said it is a big challenge to achieve in India because clinicians do not always feel excited working with scientists. Taking all these into consideration, we can formulate scientific policies based on the available data from the literature only. In India molecular diagnosis is still not very prevalent across the country. But if that gains momentum, it would surely affect the contours of epidemiology lessening the disease burden from the population. We need to establish a good Molecular human genetics Research Center tagged with medical college for procuring research samples on sustained basis.
When asked about what immediate changes should be introduced at this moment, He replied All newly born babies must be subjected to first level of genetic testing, based on epidemiological data, they may then be subjected to second level of genetic testing if need be and finally, the comprehensive genetic testing involving plethora of inventional diagnosis, if clinicians still have question. Record keeping must be honest and probands must be frequently analyzed. Development of base line data would provide not only wealth of clinical information but also give intellectual kick and research confidence to the workers.
With liberal funding, within five years, center will start showing visibility. He also revealed another important factor determining the success of such projects and said that the game should be played not by greedy, dishonest and self centered people. He said Unfortunately, if a person is honest, he is useless, if a person is smart and capable, he is not honest but if you need both in a person, he is very hard to find. Thus, finding a right person to helm the Center would be a bigger challenge than pleasing/negotiating with the bureaucracy.
Dr Shahid Jameel, chief executive officer of Wellcome Trust DBT India Alliance, also replied to me saying In general, research into health issues is the only logical way of addressing it. In addition, there should be the right ecosystem to ensure that research is translated into processes, products and policies.
As per the prevalence data obtained from the western countries, the prevalence of FXS/FXTAS seems to be increasing at an alarming rate. So I would like to conclude this session by stressing on the need of constant awareness programs among locals and health professionals, development of helping organizations and diagnostic labs, generation of prevalence records and introduction of relevant FDA approved therapeutics against the disorder in the valley.
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