Fragile X Society – India is dedicated to spread awareness about the Fragile X syndrome (FXS), a common factor responsible for inherited intellectual impairment that affects millions of people all over the world. It is also the most common known genetic factor for autism or the autism spectrum disorders. From causing mild learning impairments to severe intellectual or cognitive impairments that are often referred to as symptoms of mental retardation, Fragile X syndrome (FXS) can cause a number of serious symptoms that can make it extremely difficult for a person to lead a normal life. Delays in speech and language development are common, as are a variety of physical and behavioral characteristics.
Hundreds and thousands of lives are affected by this syndrome in India and people yet have little awareness about this serious condition. It is necessary to take special steps so that the lives of people affected by it can be improved. It can be a painful experience for any parent to have an autistic child at home. The lack of awareness about this condition within the Indian society also makes people’s life difficult here. There is a strong stigma associated with being the carrier of the genetic makeup that gives rise to Fragile X and people affected by this condition often face serious problems in their social lives. Due to such reasons, it is necessary to educate people about this condition and how it can affect their lives. Since it is a genetic condition, it can happen to practically anyone and people should know how to deal with their lives if it does.
To spread awareness about Fragile X syndrome (FXS) and promote effective medical treatment of the condition, Mrs. Shalini Kedia founded the Fragile X Society – India that aims to take medical treatment for this condition to an all new level. Organizing the first-ever International Fragile X conference in India 10 years ago, the society is all set to join hands with UC Davis MIND Institute in California and sponsor a number of upcoming meetings between February 24 and March 5 in various cities like Delhi, Kolkata, Bangalore and Mumbai that will improve the prospects of medical treatment of this syndrome.
Medical aspects of Fragile X syndrome
Fragile X-associated Tremor/Ataxia Syndrome
Fragile X-associated tremor/ataxia Syndrome (FXTAS) is a condition that causes balance, tremor and memory problems in some older male (and less commonly, female) “carriers” of the FMR1 gene. FXTAS is caused by a “premutation” of the FMR1 Gene.
Fragile X-associated Primary Ovarian Insufficiency
Fragile X-associated primary ovarian insufficiency (FXPOI) is characterized by decreased ovarian function, which can lead to infertility and early menopause in some female “carriers” of the FMR1 gene. FXPOI is caused by a premutation of the FMR1 Gene.
Fragile X-associated Disorders (FXD) can be passed on by carriers of the FMR1 gene mutation who have no apparent signs of an FXD. In some families a number of individuals may be affected, while in other families a diagnosed individual may be the only known family member to exhibit symptoms. Also, in some families, only carriers are identified and there are no apparently affected family members.
FXS In India: The Lack Of General Awareness & Contribution By Fragile X Society
It is estimated that there are as many as 300,000 to 400,000 Indians with FXS and millions of carriers of the mutation. However, only very small numbers have been diagnosed, a problem that is common throughout most of the world. Due to the inherited nature of Fragile X, this lack of awareness and diagnosis leads to there being multiple family members with, or at risk for, one of the Fragile X-associated Disorders and it is not uncommon for there to be two, three, five or even greater numbers of affected individuals within an extended family.
Thanks to the efforts of the Fragile X Society – India, there is some awareness about Fragile X in India, including a clinic in Mumbai, and an International Autism and Fragile X Syndrome conference was held in Mumbai in 2007.
An Awe-Inspiring Contribution By The Founder Chairperson Mrs. Shalini Kedia
Mrs. Shalini Kedia is the founder and chairperson of the Fragile X Society – India. Through her efforts and her team, including volunteers and advisors, families impacted by Fragile X have somewhere to turn within India. The society organized the first-ever International Fragile X conference in India 10 years ago and, along with the UC Davis MIND Institute in California, is the main sponsor of the upcoming meetings.
The Upcoming Events
A team of American clinicians and researchers will be meeting with families and professionals at medical institutions in Delhi, Kolkata, Bangalore and Mumbai between February 24 and March 5. The goals of the visits include:
Expand and develop relationships between Indian and American researchers and clinicians.
Improve awareness of all Fragile X-associated Disorders throughout India.
Exchange knowledge between Indian and American professionals about the latest evidence-based treatments for Fragile X-associated Disorders.
Highlight the relationship of fragile X syndrome to autism.
Further engage the patient community to expand the reach of the Fragile X Society – India.
The Future Plans By Fragile X Society
The Fragile X Society – India will build on the upcoming meetings to improve the rate of diagnosis, especially early diagnosis, which will lead to earlier and better interventions that are evidence-based. We also hope to establish treatment clinics in all of the major Indian cities and to foster more research. We plan to continue to be an active member of the International Fragile X Alliance, an online organization of parent support groups, and to encourage new clinics to become members of the Fragile X Clinical & Research Consortium (FXCRC), a U.S. based group of 30 medical institutions that recently voted to expand internationally.