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

 

Looking back, when I was very young, I was rude, mischievous, and ill-mannered.  I often had heated arguments that eventually led to manhandling, and I always found my muscle power to be my best winning companion.  Supplementing it with abusive language, I tried to overpower my opponents, no matter how dear they were to me or how deeply it was going to hurt them.  

My parents were most worried about my abusive character; as an only child, their expectations of me were seamless, and they tried to correct me. But my confrontations against them were mostly through abusive words and even manhandling my own father on several occasions. I had, many times, seen my parents count worried days with tears in their eyes, seeing my rogue behavior. Yet, whenever I saw them weeping, a wild sense of happiness ran through my mind—something I am deeply ashamed to narrate in front of you. But it is a sad reality of my childhood days.

 

One day, highly agitated and angry, I threw a coconut at my father with the most abusive words that no child should ever use against their father. He stood still, motionless for a minute, and told me, “The pain and agony I am feeling will surely come back to you one day when your child does the same.” 

Days passed and years went by. Many good and bad things happened in my life, but the words of my father still haunted my inner conscience—that one day my child would also do the same to me.  And I earnestly do not want to bear the same. 

 

But time is a great healer, and I became more mature, got married, and started to be well-mannered. When I became a proud father of a very cute young boy, my joy was boundless, though a gentle fear of my father’s words lingered in my mind. I prayed to God every day that his words should never come true. It seems God has been kind to me, as my child has never spoken abusive words against me.

But today, as I sit in front of you, I earnestly pray to God that my father’s curse should become a reality. I wish and expect a day to come when my son splashes me with anger and showers me with abusive words. I pray day in and day out, every second of my life: please God, please help my son speak, even if it means uttering abusive words, and give strength to his hands to lift and punch me. But do not punish him with a life where he cannot speak or even walk.

 

I recounted this chilling experience in front of a small gathering, with my son sitting beside me. Gently patting him, my words choking, I saw my son looking at me—slightly confused, unsure whether I was happy or sad. He suffers from a genetic disease and lives in a world of his own. From waking up to sleeping time, he requires support to carry out his daily chores. My words break, unable to continue. Today, I feel fate has been so cruel to me—words dry, eyes wet, but not a drop of tears comes out. Perhaps even my tears are fed up with me.

 

The crowd gathered there listened to me in pin-drop silence—motionless and emotionless. My painful narration was not a shock to them, for they, too, were victims of the cruel fate of nature, parents of children with genetic disorders. Who suffers more or whose agony carries greater pain is impossible to gauge.  The whole atmosphere had only one emotion. It was not one of grief or sorrow, but the silent agony of helplessness and the fear of life that stood before them.

 

My one and only, first and last wish of my life is to see my cute little princess die at least one day before I die- another mother mother whispered.  When a new girlchild was born to her, the whole family was in joy and with a wild festive celebration.  First three years saw boundless celebrations, and the family celebrated each and every milestones of the baby’s growth; her first teeth, her first meal, her standing up, crawling, calling me mummy, everything was a celebration to the family.  But when the child started showing the symptoms of a genetic disorder, happiness gave way to pain.  Slowly, the dear ones who stood with the celebrations and in good times started to keep a distance.  

 

Today its just me , my husband, and my little queen, alone.  She continued.  We had spent a lot of money , leaving no hospital unexplored, from north to south, from ayurveda to unani, nothing could bring my child back to health.  In the run from hospital to hospital, my husband lost his job, leaving us without an income.  Gradually, my health deteriorated, and breaking down or seizures became recurrent.  On the worry about what will happen and who will look after her when I die.  My daughter will be at the mercy of others.  There will be no one for my daughter to feed her, clean her, and sing her the favourite tamil song she loves to hear from me.  So my earnest prayer to god is oh god, at least deliver one justice to me and my child; help her to die at least one day before I die she concluded, thankfully, one drop of tear escaped from her rather deeply sunken and dry eyelids.

 Am I a god? How can a man become a god?

 

There are many instances where nature can become so rude to us.  Here I am counting on nature and leaving God.  Because I believe that god can never make mistakes and I do not want to say god has made a mistake.  This is what my mother had taught me, what my grand parents taught to me. God is supreme and over errors.  But nature can make mistakes, and hence we have some little prince and princesses born with genetic disorders.

 

So, how to respond to nature’s wrath?  Accept it as it is and concede defeat, or raise above human to become humane?  Yes, the only way to overcome nature’s wrath is to rise above nature, and it makes you more humane and divine.

 

“Aham Brahmasmi"—that’s what Hindu philosophy teaches. It means "You are the God, and God is within you."

 

when you do good things in life, to your family and people around you, you becomes a good person.  

 

When you extend your support to the needy and not related to you anyway, you become a leader.

 

 

And when you support the hapless people like this who do not even know how to ask for help, God is born in you; you becomes a god. 

 

When you have decided to become a god, you are naturally creating a heaven.  Now the choice is ours, whether we create a heaven of our own or wait for some heavenly bodies to come and help us.  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.  But it should be created. 

 

Before becoming a god; let's become human 

 

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. 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 this rare condition.  It results in the child living an isolated life, away from the beauties and wonders of the world. They are not taken to public places or to social gatherings.  Another sad reality is; these children are subject to harsh punishments and beatings from others.  Sad part is, the children are not understanding why they are getting beaten up everyday. 

 

Though these medical conditions have no proper medication, physical and occupational therapies can greatly improve their suffering and improve their physical, mental, and structural conditions.  Therapies, along with social mingling, can greatly impart positive changes. 

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

 

 

1     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.

 

2     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.

 

3     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.

 

4     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.

 

5     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.

 

6     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.

 

7     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.

 

8     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

 

1     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.

 

2     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.

 

3     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.

 

4     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.

 

5     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:

 

1     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.

 

 

2     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.

 

3     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.

 

4     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.

 

 

5     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.

 

 

6     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.

 

 

7     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.

 

 

8     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.

 

 

9     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.

 

 

10     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.

 

11     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.