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Surya was a bundle of joy from the moment he was born. His parents were ecstatic to have a boy to complete their family. However, as he grew up, they noticed he was less active, showing signs of anxiety, had difficulty in sensory processing and even showed early signs of autism. He stopped communicating or even imitating like a normal child. His parents realised he was facing developmental issues, and tests showed he suffered from Fragile X Syndrome. This syndrome affects boys in a more severe and frequent manner than girls. It happens due to the mutation of the gene FMR1, which impacts the nervous system and is an irreversible condition. The only way to deal with this condition is to have a better quality of life for the patient and the caregiver. Hence, it is imperative to be aware of this syndrome. Celebrating Fragile X Awareness Day on the 22nd of July every year is just the right way to go.
A Day Highlighting a Complex Genetic Condition
World Fragile X Awareness Day is a poignant reminder of the everyday hardships and challenges that an individual and their caregivers or family members suffer due to this incurable congenital genetic condition. The importance of raising awareness and support cannot be undermined since it is an ailment that affects a person's entire life.
Knowing about this condition will not only help early detection and diagnosis but will also help improve quality of life with timely intervention and support groups. It reduces the misconceptions and prejudices surrounding mental disabilities. These patients need empathy and understanding, and awareness campaigns are directed to foster this. The campaigns encourage inclusivity and help fight the social stigma attached to these diseases.
Support groups advocating for awareness can provide resources and information in regard to the diagnosis and control of such disabilities. They can teach communities to be supportive and humane while dealing with families and caregivers of patients suffering from Fragile X.
Such organisations also have the power to spearhead advanced research and fundraising events, including the patients' families. It helps the medical research teams to understand the breadth and depth of the illness that varies with patients.
Educational seminars, community gatherings and social media campaigns are usually used to raise awareness of Fragile X syndrome. Fundraising walks and chatrooms make way for families and individuals to connect with others across continents, fighting similar challenges.
What does Having Fragile X mean?
It is a genetic disorder caused by a mutation in one of the genes in the X chromosome. It is the most common cause of inherited nervous disability. It is caused by a mutation of the FMR1 gene on the X chromosome. This mutation reduces the production of FMRP protein, which is crucial for normal brain development and functioning. The inheritance pattern of this gene is unique. Since this gene mutation happens in the X chromosome, males tend to suffer more severely than females.
Research has linked this syndrome to symptoms of autism spectrum disorder as well. Some prominent effects of Fragile X include:
- It causes an overall developmental delay impeding speech, communication and understanding.
- The patient faces major intellectual difficulties and learning disorders.
- Anxiety is one of the major symptoms of this condition, which surfaces quite early.
- Those who suffer from this syndrome often show behaviours similar to autism, flapping of hands, nervously repeating words and sentences, and awkward social interactions.
- Expressive language skills and receptive language skills are either delayed or impaired depending on the severity of the gene mutation.
- Some typical physical features, though not pronounced, can also be said to be associated with Fragile X. It includes long faces, large ears and prominent foreheads and jaws.
- Sometimes, Fragile X may also cause certain associated medical issues like epilepsy, structural abnormalities of the ears, and even gastrointestinal problems.
Treatment for Fragile X Syndrome
The best treatment starts with Fragile X syndrome awareness. The detailed knowledge of the condition will help you develop a multidisciplinary approach to dealing with this condition. Some key ways to treat the symptoms can be:
- Behavioural therapies are helpful in treating anxiety, hyperactivity, social awkwardness, and impulses.
- Educational support to meet unique learning needs like speech therapy, special education services and innovative teaching methods, may help immensely.
- Managing symptoms via medications like psychotropic drugs to control mood swings and nervousness can also be used to provide a normal life to patients.
- Occupation therapies can manage sensory skills and develop much-required motor skills essential for daily activities.
Does Fragile X Get Worse with Age?
Girls with FXS become worse at communicating as they progress in age, but their social and living skills remain stable. Meanwhile, boys tend to get worse at communicating, socialising, and daily living.
Fragile X patients do not necessarily get worse with age. However, how it affects a person can vary at different phases of his life. Behavioural symptoms might get better or worse or remain the same throughout. Certain complications like hand tremors can develop as one progresses to adulthood.
As they move into adulthood, new challenges with socialisation and independence may become issues and associated medical conditions may pose chronic problems.
Since Fragile X is incurable, managing the medical and behavioural conditions can be the only way to mitigate it.
Can Fragile X Patient Get Pregnant?
It is an obvious question that comes to mind, considering the way this condition is passed on. But you will be relieved to know that Fragile X mainly affects cognitive and behavioural development. Females with Fragile X can conceive as they generally have a normal reproductive system. However, they require additional help and support through pregnancy, childbirth and parenting years.
Genetic counselling is critical for pregnant women with Fragile X syndrome. Genetic counsellors can help with information on the pattern of inheritance, the probability of passing the mutated gene, and available options for prenatal testing.
What is the Symbol for Fragile X Syndrome?
A stylised butterfly represents Fragile X syndrome. The symbol is to associate the condition with fragile individuals who get affected by it. It represents hope and changes reflected by ongoing research efforts and medical advancements that have made their lives better.
This symbol is often used in campaigns and fundraising activities to create awareness and solidarity with the Fragile X community.
In Conclusion
It is a relief to see the advances in genetics and neurosciences that have helped develop targeted therapies for such developmental illnesses. With continued research support from governmental agencies and communities in tandem with experience sharing by the families, the future sure looks hopeful. The day is not just a date in the year, but a reminder of diligence, strength, patience and commitment of those suffering and the loved ones around them. So, let’s celebrate the uniqueness with empathy and spread awareness together.
