“Fragile What?” That is how most people react to the work I do!
Fragile X Syndrome is a genetically defined medical condition. It is one of the leading causes of intellectual disability and Autism in children worldwide. In fact, it is the only known single gene cause of Autism.
In simpler words, Fragile X syndrome is a condition that causes delayed development amongst children and has symptoms similar to Autism. These delays can be physical and cognitive. Fragile X Syndrome is caused by a mutation in the FMR1 gene located on the X chromosome.
A Child May Experience:
- Delayed milestones
- Speech delay
- Learning disability
- Autism/ autistic traits
- Sensory processing disorders
- Behavior problems
- Cognitive delays
The Physical Features Include:
- A large forehead
- Protruding ears
- Prominent chin
- Long face
- Hyperflexible joints
Fragile X Syndrome is a spectrum disorder and the severity may vary. Since the symptoms overlap with Autism, very often children are missed and underdiagnosed. In most families, Fragile X passes down silently through generations and is known only when a child is affected.
In some families by the time a child gets an accurate diagnosis, they already have 2-3 children affected within the family.
Having an accurate diagnosis is a huge step forward toward the right treatments for the child which will make a huge difference in the prognosis. There is no cure for Fragile X Syndrome, but medical and therapeutical intervention can make a big difference.
What Happens When A Child Receives Diagnosis?
When a child receives a diagnosis of Fragile X Syndrome, the family needs to go for genetic counseling. This is a pivotal step to assess the siblings and extended family. Many times the symptoms are too mild to be diagnosed in childhood and will be more visible as the child grows. This also helps to test for carriers in the family.
Carriers of the Fragile X premutation are at risk of passing on the condition to their off-springs.
Awareness on Fragile X and related disorders is the need of the hour throughout the world. Not only does it help the affected child, but it also empowers the family to make decisions for their future children.
It is a rare medical condition that affects nearly 1 in 5000 children worldwide and that makes it close to 4 lakh children in India. This is a large number especially when we realize most of these children still await a diagnosis.
Fragile X can be suspected in as early as a one-year-old and can even go undetected for over 10 years. Fragile X Syndrome is confirmed with a DNA test via a blood sample. This test is easily available and has accurate results.
What Can We Do To Help?
We as a community can make a difference. Being aware of Fragile X can actually change a life. Today we often come across so many children who might have a learning disability or delayed development and even Autism. A simple act of speaking about Fragile X can raise awareness.
Fragile X Society-India has been working towards the cause for nearly two decades. They serve as a support system for families impacted and are very actively involved in creating awareness for Fragile X in India. You may connect with them, put up information on your social media account, take part in their campaigns, or also be involved in activities.
Each year as the awareness of Fragile X rises the number of families receiving an accurate diagnosis increases and that is very empowering for them. Your support can strengthen them.