Rare Disease Day: Families fight alone as children ‘adjust’ themselves to unusual health conditions

Budithi Lakshmi Dedeepya. (Sumit Jha/South First)

The banter continues until Dedeepya concedes that her teacher has influenced her interest in the subject.

However, Dedeepya does not meet her favourite teacher in person often. A medical condition has forced her to attend school online from the confines of her home. She spends her school hours — 9 am to 3 pm — glued to the computer screen. Her movements have been restricted due to spinal muscular atrophy, a rare disease.

“She had attended school when she could still walk. She walked distinctively. However, with the Covid-19 outbreak, classes were shifted online. Unfortunately, her rare disease presented a challenge — prolonged periods in the same position led to the degeneration of muscles,” the doting father said.

“Consequently, her mobility declined, and since 2021, she is unable to walk as both legs have become immobile,” he told South First.

When the school resumed offline classes, they accommodated her wheelchair in the classroom. However, using the restroom or boarding the school bus posed considerable challenges. Recognising the issues, we opted for the online class, providing her with a more practical and accessible educational environment,” Kumar said.

Related: What is Spinal Muscular Atrophy? Why does the injection to treat it cost ₹16.9 crore?

Afiya’s story

Cab driver Ayub Khan, 27, has just returned home after work, and his concerned wife started complaining about their two-year-old daughter, Afiya Aleena.

“Subah se bas chilaye ja rahi hai. Kuch muh mai liya bhi nahi. (she has been screaming since morning without eating anything),” the wife, Samreen,  complained.

Aleena, too, has been diagnosed with a rare disease, malonic aciduria.

“When Afiya was born, she experienced insomnia, inability to digest food, and frequent bowel movements. Additionally, she encountered seizures every half an hour. Due to her frail heart, she cannot consume solid food,” Khan said as she picked up the baby.

Khan resides in a rented apartment at Erragadda with his parents, wife, Afiya and a six-month-old younger daughter.

“Doctors told us that Afiya inherited the disease because of the close relation between my wife and me, both of us carrying the genes that were passed on to her. When my wife was pregnant again, we underwent tests, and fortunately, the younger one did not inherit the same condition,” the man sighed.

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The rare disease

Rare diseases, also known as orphan diseases, is a medical condition that impacts a small percentage of the population. Definitions may vary across regions, but these diseases generally affect a relatively lesser number of individuals.

Rare diseases often have a genetic basis, stemming from mutations in the genes. Due to their infrequency, diagnosing rare diseases can be challenging, and they receive limited research attention, leading to restricted treatment options.

The treatment approaches for rare diseases vary based on the specific condition. Common strategies include managing symptoms to enhance the patient’s quality of life, specialised medical care, and participation in clinical trials or experimental therapies.

Also Read: Medicines for four rare diseases become cheaper due to domestic production

It gets to the family as well

Dedeepya changed the topic. “I want to be a singer,” she declared.

Kumar said the Korean band, BTS, is her favourite. Deedepya disagreed. “Sid Sriram,” she named her favourite singer. A discussion between the father and daughter ensued before Kumar agreed that Dedeepya has a long list of favourites.

“Life continues, and we must carry on. I studied this condition. I had an understanding that at some point, she might need a wheelchair. If I had informed the family members earlier, it could leave them aghast. The realisation was gradual,” Kumar said.

The families also grow up with children with rare diseases. They also have to go through the pain, not like the patient, but a pain which is expressible to others. The family, and everything around change.

“As she grows older, it will be hard for her, specifically when she reaches adolescence. She started menstruating about a year and a half ago. Since then, it has become difficult for me to assist her with certain tasks. Basic activities like taking her to the bathroom present significant hurdles,” the father said.

Dedeepya’s mother Sri Lakshmi said she supports the child in getting off the the wheelchair. “She relies on my support. She holds my neck with both hands, causing strain and cervical pain. Simple tasks such as dressing her up become intricate, and even the interiors of the house had to be altered to suit her needs,” the mother told South First.

Afiya’s father Khan, too, spoke about the challenges, especially his constant struggle to find finances for his daughter’s treatment.

“The true challenges, however, are faced by my wife and parents who tirelessly care for our child at home. Unlike a typical newborn who sleeps for about 20 hours, our child wakes up every half an hour, demanding my wife’s constant efforts to make her sleep again,” he said.

“Since she has difficulty in digesting food, my father rushes each morning to purchase diapers. The child’s growth is stunted, and her walking remains an unattainable milestone. During my wife’s second pregnancy, finding time to rest became hard. Life has become exceptionally challenging, yet we hold onto hope that the right medicine will be found, allowing her to live a fulfilling life,” Khan said.

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One step at a time

Dedeepya had trouble walking from a younger age. “Initially, we suspected it was the diaper, as she waddled. We visited the MNJ Hospital, and she could then stand up with support. However, the hospital recommended further evaluation at Niloufer Hospital. From there, we went to the Nizam Institute of Medical Sciences(NIMS),” Kumar said.

“Our journey continued, oscillating between the orthopedics and genetics departments. It was around this time that a biopsy was suggested. The biopsy revealed SMA (Spinal Muscular Atrophy) type III,” he added.

Khan and his family, too, took Aleena to several hospitals ever since she was a month old. “We sought help from the Niloufer Hospital. The doctor prescribed medicines, and initially, the issues seemed to subside for a few days. However, the problems resurfaced,” he recalled.

“In search of more comprehensive care, we opted for a private hospital. After conducting tests, they recommended consulting a specialist at Rainbow Hospital, a private facility for children. The doctor at Rainbow Hospital suspected genetic issues and referred us to Nizam Institute of Medical Sciences (NIMS), where they identified and confirmed malonic aciduria,” Khan said.

The smile has now disappeared from Kumar’s face. “Dedeepiya doesn’t demand anything special. She doesn’t complain about anything. However, she is okay with whatever she has. She understands her situation. She knows the family’s situation and never complains,” a grim-faced Kumar said.

Khan, meanwhile, tried to get help from the government. He went to the Praja Darbar held by the newly-elected Congress government in the state.

“People suggested attending the Praja Darbar hosted by Chief Minister A Revanth Reddy. However, due to my night duty schedule, I could only reach Praja Bhavan only around 11 am. Each time I went, the queue was at least a kilometer long. Despite my three efforts, I could not meet the leaders. However, I submitted my application to the officials present. I am hoping to get some help from the government,” Khan said.

Also Read: Siddaramaiah requests PM for tax waiver on ₹17.5 crore drug for Karnataka toddler battling rare disease

The cost of life

The high cost of treating rare diseases is primarily driven by the unique challenges associated with these conditions. The small patient population limits the market potential for treatments. Developing therapies for rare diseases involves extensive research, clinical trials, and regulatory processes, contributing to elevated research and development expenses.

“The cost of treatment is exorbitant, and the doctor has conveyed that it’s a lifelong condition. To date, we’ve spent over ₹14 lakh for her treatment. We had to sell our land in our native place in Nalgonda, request friends for their credit card assistance, and seek private financing to manage the expenses. Sustaining this financial burden is challenging for us,” Khan said.

He added that Aleena relies on Low Fat Diet (LFD) supplements, which they source from Bengaluru. “Unlike a typical child who can consume Cerelac, she is unable to do so. Additionally, she requires carnitine supplementation. A significant portion of our expenses goes towards covering the costs of specialised diets and medications,” the cab driver added.

Kumar, meanwhile, is trying to get Risdiplam, an oral solution, which could slow down the progression of the disease. “But, it costs ₹6 lakh for 0.75 mg/mL a month, and ₹72 lakh a year,” he said. The cost is beyond the means of the sales manager in a real estate company.

“We tried crowd-funding, but it failed as people don’t know much about the disease and they think that it’s a normal disease and don’t donate,” Kumar said.

Also Read: Rajiv Gandhi biotech centre to support Kerala hospitals on rare paediatric genetic disorders

Government initiative

In 2021, the Union government took a noteworthy stride towards addressing the healthcare requirements of individuals with rare diseases by introducing the National Policy for Rare Diseases (NPRD).

As a component of this initiative, the creation of Centers of Excellence (CoEs) was announced to provide specialised treatment for those affected by rare diseases. To date, the government has established 12 CoEs across the country.

In Hyderabad, the collaboration between the Centre for DNA Fingerprinting & Diagnostics and Nizam’s Institute of Medical Sciences resulted in the establishment of a CoE. Both patients are registered with this CoE, marking a significant development in the provision of specialized care for rare diseases in the region.

Dedeepiya and Aleena are among 1,472 patients who have registered with the government seeking treatment for their rare disease.

Those wishing to help these patients can make donations at https://rarediseases.mohfw.gov.in/. The cost of treatment for Dedeepya would come to ₹1.80 crore, while Aleena needs ₹50 lakh.