Psychological and Social Implications of Genetic Diseases in India; A story

 

In my younger days, I was rude, mischievous, and ill-mannered. I often had heated arguments with everyone, trying to win by using muscle power and abusive words, regardless of their seniority or how deeply it might hurt them. I was too young to understand the impact of my actions. The same behavior extended to my home life. As an only child, my parents had huge expectations for me, and seeing my behavior, they were worried, especially my father. He always tried to correct me in many ways, but I would retaliate with vulgar words or even extend to physical confrontations. I am ashamed to tell this to you people but it is the sad reality.  

Witnessing my behavior, he would often tell me that I would one day understand the pain of being struck by a son when I became a father myself.

Years passed, and my father passed away. As I matured, I took on more responsibilities, and my interests changed, along with my bad behavior. I became more humane, compassionate, and gentle. However, my father's words continued to haunt me, and I prayed to God every day that his words would never come true. But I never expected nature to deliver a harsh blow on my family when I was blessed with a baby boy.

Today, my greatest expectation and prayer is for my father's words to become a reality. I earnestly wish and worry whether there will be a day when my son abuses me with bad words or even hits me, shouting, "You idiot." I pray day in and day out, every second of my life, for this to become a reality.

He recounted his chilling experience while gently patting his son, who sat beside him, looking up at his father. His son suffers from a genetic disease and lives in a world of his own.  From waking up to falling asleep, he requires constant support to carry out his daily chores. The father spoke with a breaking voice, unable to finish his words. His words became so dry, and fate so cruel, that even a tear resisted to come out making his eyes more dry. It seemed even nature had become so cruel to him.

We listened to his story without any emotions. His painful narration did not instill pain in us because we could not gauge whose suffering was greater. A  feeling of emptiness or helplessness was visible in the surroundings. As the parents of children with genetic disorders of various degrees, we all were also victims of the same pain and agony. The only difference is the circumstances or social conditions we are living in.

“My last wish is to see my cute little princess die at least one day before my death" another helpless mother shared. When God gifted her with a cute daughter, the whole house burst into happiness and celebration. But when her daughter started showing symptoms of a genetic disorder, happiness gave way to suffering. Slowly, the dear ones and neighbors who had been with them in good times began to keep their distance. Today, it is just me, my husband, and our little queen, alone.  She continued. We have spent a lot of money on treatment, leaving no hospital unexplored, from north to south, from Ayurveda to Unani, but nothing could bring my child back.

In the run from hospital to hospital, my husband lost his job, leaving us without an income. Gradually, my health deteriorated, breaking down my emotions. I sank into a deep depression, constantly worrying about what would happen after I died. I even felt insecure leaving my daughter alone with her father.  Darkness was everywhere, and I couldn't see even a ray of light. There is no one for my daughter to feed her, clean her, and sing her favorite songs to make her sleep.  She will be left at the mercy of unknown people.  That’s why I wish to see my daughter die before me. I earnestly want to deliver justice to my little princess at least on the day of my death. She concluded, thankfully, as some tears finally escaped from her deeply sunken eyelids, which otherwise might have been tiny and beautiful.

There are many occasions when nature has been so rude to us. I intentionally use the word "nature" because I perceive God as a supreme power who can perform wonders and never makes mistakes. The eternal truth I learned from my parents, grandparents, and elders, and I do not wish to contradict it. The only way to overcome nature’s wrath is to rise above nature and it makes you more humane and divine. "Tat Tvam Asi" or "Aham Brahmasmi"—that’s what Hindu philosophy teaches. It means "You are the God, and God is within you." Once you do good things for yourself, your family, and the people around you, you become a good person. When you extend your service to the needy, you become a leader, and when you support people like these helpless individuals, who don't even know how to ask for help, god is born in you. Whether we choose to become gods and create a heaven of our own before we die or wait until death reaches heaven is up to us. But as a father of a differently abled child, I can surely say Empathy compassion, humanity, and inclusion, cannot be bought in the market or found in temples or churches.

Now, let us illustrate the importance of devising a sustainable plan to rehabilitate people with genetic disorders in India. Statistics suggest that India today has approximately 70 million people suffering from genetic disorders. This means that one in every 20 children born in India is affected by various genetic disorders. The alarming part is that, to this day, there are no medicines to cure these conditions. Some children exhibit symptoms at birth, while others only show symptoms as they grow.

The dark side is that many parents feel ashamed to tell the world that their child has a rare disease, resulting in the child living an isolated life, away from the beauties and wonders of the world. These children are often not taken to public places, like parks or picnics, or to social gatherings like marriages or celebrations.

Though there is no proper medication, these children require continuous physical and occupational therapies to support them and alleviate their suffering. The brutal part is the abuse these children may face. There are many instances where parents themselves beat the child rigorously. The sad part is, the child does not understand why their parents are beating them.

So, how can we become more compassionate toward individuals with genetic disorders?

Do Not Shy Away

Never be nervous or shy about declaring your child’s special requirements. Remember, it is a medical condition, and a progressive society will support those who need it. Embrace empathy and support, as these are crucial for inclusive care.

Educate Yourself and Others

Study and understand the disease thoroughly. Speak about it in public forums and groups, and spread knowledge. Research shows that children with rare diseases show better improvement when they have loving relationships, a healthy environment, and exposure.

Promote Engagement and Exposure

Do not confine them indoors. Take them outside, travel with them, and expose them to nature’s remedial benefits, which may not be immediately apparent to us.

Share and Learn from Experiences

Share your experiences with others and be open to learning from theirs. Through years of experience, valuable insights are gained that can help other parents provide better support for their children. Join support groups and engage in awareness campaigns to foster a community of support.

Stay Hopeful and Active

The world of medicine is advancing rapidly, and there is a possibility that treatments for rare diseases may become available. Do not lose hope; stay active and informed.

Seek Support for Parents

Parents often face emotional and psychological impacts. They need to seek proper medical help to manage anxiety, depression, and other mental health issues.

Ensure Comprehensive Care

Children with genetic disorders require continuous medical care and support, including speech, physical, and occupational therapies. As a parent, investing time and effort in these therapies can lead to significant improvements.

Stay active

Your child is required to be more active.  Otherwise, they will lose the ignition to fight the disease.  So make them stay active, eat only healthy food, drink a lot of water, and get plenty of rest.  Avoid junk foods and those advised by doctors.  Make them drink a lot of water and fruit juices.  For refurbishing, the brain requires more time to rest.  So allow them to sleep more.

Role of Public Organizations and NGOs

Improve Access to Healthcare

People in rural areas often have limited access to specialized healthcare and support services. The government and organizations need to provide better access to healthcare for these individuals.

Address Financial Barriers

Healthcare support systems, such as physiotherapy and occupational therapy, can be expensive with limited insurance coverage. It is crucial to find ways to make these services more accessible and affordable.

Increase Public Awareness

There is a lack of awareness about the challenges faced by people with genetic disorders. Government agencies should promote awareness and encourage public support for affected individuals.

Make Public Spaces Accessible

Ensure that public places are handicap-friendly, as some genetic disorders affect mobility and walking abilities. Facilities like public roads, stations, and transport systems should have wheelchair access.

Combat Social Stigma and Provide Rehabilitation

People with genetic disorders often face social stigma, discrimination, and isolation. They may also experience learning disabilities and employment challenges. The government should support rehabilitation activities to ensure these children receive education and fair employment opportunities.

Some important genetic disorders

Here are some important genetic disorders that are relatively common in India:

Thalassemia

Description: A group of inherited blood disorders characterized by the production of abnormal hemoglobin, leading to anemia.

Prevalence: Significant numbers in India, with around 100,000 patients and 10,000 to 12,000 new cases annually.

Symptoms: Severe anemia, fatigue, weakness, and organ damage if untreated.

Sickle Cell Anemia

Description: A genetic disorder where red blood cells become rigid and shaped like a crescent, leading to blockages in blood flow.

Prevalence: Affects approximately 1.5 million people in India, especially in tribal communities.

Symptoms: Painful episodes, anemia, swelling in hands and feet, and frequent infections.

Down Syndrome

Description: A chromosomal disorder caused by the presence of an extra chromosome 21, leading to developmental and physical delays.

Prevalence: Around 30,000 to 35,000 children are born with Down syndrome each year in India.

Symptoms: Intellectual disability, characteristic facial features, and developmental delays.

Hemophilia

Description: A bleeding disorder where blood does not clot properly due to the deficiency of clotting factors.

Prevalence: Over 20,000 registered cases in India, though the actual number may be higher.

Symptoms: Excessive bleeding, joint pain, and easy bruising.

Duchenne Muscular Dystrophy (DMD)

Description: A severe type of muscular dystrophy characterized by progressive muscle degeneration and weakness.

Prevalence: Estimated 5-10 per 100,000 male births.

Symptoms: Progressive muscle weakness, difficulty walking, and eventually loss of mobility.

Cystic Fibrosis

Description: A genetic disorder affecting the respiratory and digestive systems, causing thick mucus buildup.

Prevalence: Relatively rare in India but present.

Symptoms: Chronic cough, lung infections, and digestive problems.

Phenylketonuria (PKU)

Description: A metabolic disorder where the body cannot break down the amino acid phenylalanine, leading to its accumulation.

Prevalence: Rare, but cases are identified through newborn screening programs.

Symptoms: Intellectual disability, behavioral problems, and skin rashes if untreated.

Neurofibromatosis

Description: A genetic disorder causing tumors to grow on nerves and affecting skin pigmentation.

Prevalence: Variable, but cases are found across India.

Symptoms: Skin changes, nerve tumors, and learning disabilities.

Retinitis Pigmentosa

Description: A group of genetic disorders causing progressive degeneration of the retina, leading to vision loss.

Prevalence: Cases are seen across India.

Symptoms: Night blindness, loss of peripheral vision, and gradual loss of vision.

Spinal Muscular Atrophy (SMA)

Description: A genetic disorder that leads to the progressive loss of motor neurons in the spinal cord.

Prevalence: Not as common but present in India.

Symptoms: Muscle weakness, difficulty in movement, and respiratory issues.

Cerebral Palsy (CP)

Description: Cerebral Palsy (CP) is a group of neurological disorders that affect movement, muscle tone, and motor skills due to brain injury or abnormal brain development,  It is one of the most common motor disabilities in childhood that affects 1 in 500 live births in India.

Prevalence: Common in India.

Symptoms: Motor Symptoms: Difficulty with fine and gross motor skills, muscle stiffness or weakness, and problems with balance and coordination.

Other Symptoms: May include seizures, cognitive impairments, vision or hearing problems, and difficulties with speech and swallowing.