Sheema, deep down in her heart, knows the day isn’t too far when she will wake up to the news of her youngest sister’s death. Anticipating the death of her siblings, one after another over the past two decades, has left her in a suspended state of constant fear. The fact that those deaths were followed by years of excruciating physical and mental suffering have added a quality of suffering that isn’t easy to recover from either.
A rare genetic disorder called Huntington’s Chorea runs in Sheema’s family. Her father, two sisters, and two brothers have already met fate while the youngest sister, Maria, in her mid-30s, is on her deathbed. Sheema, who is in her late 30s and teaches at a private college, is the only sibling who hasn’t been affected by the disease so far.
Head of Psychiatry and Behavioural Science at the Sindh Jinnah Medical University Dr Iqbal Afridi, while talking to The Express Tribune said that Huntington’s Chorea is an autosomal dominant genetic disease which means every child born to a couple with this illness has a 50 per cent chance of get the disease itself. If a couple has six children, it means all six children have a 50 per cent chance of suffering from the disease. “Therefore, we call it a genetic disorder,” he added.
Talking about Huntington’s Chorea’s key features, Professor of Neurology Aga Khan University Dr Muhammad Wasay said that the illness causes progressive motor disability featuring chorea and mental disturbances including cognitive decline, changes in personality and depression. Voluntary movement can also be affected, he added.
Since her childhood, Sheema has seen her siblings suffer physically and mentally. “Maria and I live in the same house because after her husband leaves for work, there is nobody to look after her. Seeing my beloved sister and friend in such a bad shape breaks my heart into a million pieces,” she said. “It also takes a heavy toll on my mental health but I don’t have any choice at the moment. I try to avoid seeing her because every time I see her, I have flashbacks of our childhood and the time we spent together in our youth. Living with her hasn’t made me strong as yet, and I cannot hold my tears whenever I see her living a miserable and dependent life.”
Growing up, Sheema and Maria shared a strong bond and they were inseparable. “Not even once did I think I would see her die from the same disease that caused took the life off all my other siblings,” she said. “I wasn’t affected so I thought, since she’s younger than me, she won’t be affected either.”
Dr Wasay elaborates that the mean age of the onset is between 30 and 44 years and the median survival time is 15 to 18 years after onset. He added that chorea, mental decline, and psychiatric symptoms are prominent in the advanced stage. Thus, it is quite challenging for a person with this disease to live a normal life.
“I am a living dead [person]. What purpose does my life serve?” states Maria. Recently, Maria seems to be in a state of acceptance. While having come to terms with the limitations of her body, there is also a sense of looming death that lies ahead. According to Sheema, while she may be living like a corpse, her undeniable acceptance of her condition is a testament to her grasp on her senses. Although she isn’t in her senses completely, she talks sense. “Isn’t it fairly accurate to call someone living the way she does right now ‘a living corpse’”, she said.
For Maria’s husband, Asim, and herself it is a new day every day. One day Asim woke up to see Maria bowing her head down in front of her dressing table’s mirror and repeatedly saying, she has died and angels of death are coming to take her. “I told her she will exhaust herself and she keeps going on this way and that nobody is coming for her but she only stopped once she was tired and had collapsed. She did the same thing three days in a row,” said Asim.
The family doesn’t know how she will feel and behave one day to the next day. “She yells at me all the time and talks to herself when alone. Most times, when I feed her, she says she won’t eat it because the food has been poisoned. It makes it very difficult to feed her,” said Asim.
Maria has attempted suicide a few times. Once she jumped off the rooftop of their building and was taken to a psychiatric facility thereafter, where she was hospitalised for nearly two months. “It was a mammoth task to keep a check on her as I was the only one to take care of her at that time,” said Asim.
Sheema shared that Maria’s husband has removed all the knives and other harmful material because Maria has already tried to stab herself to death. Just to protect Maria, they haven’t installed a stove in the kitchen. Asim buys food from outside or Sheema cooks for them.
Dr Wasay explained that in most cases families take such patients to a psychiatric facility because people with Huntington’s Chorea may have depression and changes in personality require psychiatric evaluation and intervention. Severe depression leading to suicide is also reported in such patients, he added.
Dr Afridi was of the view that people with this disease feel extremely sad because of constant bullying and mockery. “Many patients attempt suicide when they can no longer put up with mockery, and also when they feel that they are a burden on their families,” he added.
Living in the dark
Dr Wasay shared that the prevalence of this disease is not known in Pakistan because of unavailability of data, while the worldwide service-based prevalence of Huntington’s Chorea is 2.71 per 100,000 Europe. North America and Australia and overall prevalence is 5.70 per 100,000, he said.
“The prevalence of this disease is more in Pakistan compared with other countries because we have cousin marriages in the country. Although there is no data on the prevalence of rare genetic illnesses. I believe the number of such patients would be high in Pakistan if a study is carried out. At Jinnah Hospital Karachi, we treat patients with this disease, but there is no data available,” he shared.
Maria is three years younger Sheema and when she was married nearly a decade ago, Maria felt very lonely. Her in-laws lived near her mother’s house, so Maria visited her frequently and spoke her heart out. She would say she feels terribly lonely at home. “Before my marriage, we used to hang out together all the time. We would go shopping and meet friends but after my marriage, I couldn’t give her enough time because of my family and job-related commitments,’ she said.
After a couple of years, Sheema suggested her mother look for a good proposal for her. Among all the siblings, only Sheema had a proposal and was married off while all her siblings had to face many problems. Her elder brother died after a few years of his marriage while the younger one was unmarried. Similarly, her second sister died after a few years of her marriage and left behind a daughter who was then brought up by Sheema’s mother because her brother-in-law had abandoned his wife and his daughter after his wife fell ill.
“Maria was in her late 20s and there was no proposal for her. People came, met our family, saw her, and never returned. In most cases, distant relatives or neighbours would tell the potential match and his family tabout the disease that was enough for them not to return back,” said Sheema. “I grew up seeing people looking down upon us. Many called our household a ‘pagal khana’ and my mother had to face a lot of difficulties while looking for a match for her children,” she said.
Later, the elders of the family married off Maria to her aunt’s son and first cousin, Asim. However, Dr Afridi points out that cousin marriages increase the risk of this rare genetic disorders. “We can eradicate this disease by not allowing cousin marriages,” he said, adding that there is a need to create awareness about cousin marriages - a primary risk factor for inherited illnesses.
Comfort in faith
“Five fingers are not equal,” says Sheema. “When I see Asim looking after Maria, my faith strengthens in God. Yes, goodness still exists,” she said, adding that her elder sister’s husband kicked his wife and daughter out of his house soon s she began showing symptoms of the disease. “When he left, not once did he come to meet his daughter. Asim, on the other hand, is a kind-hearted person. He takes care of my sister, even though he is a young man and can easily find another wife.”
“We grew up together and Maria is beautiful. When she was in good health, she was a loving wife. When we tied the knot, she didn’t have any physical or mental symptoms, said Asim, while talking to The Express Tribune. “I was neither educated nor financially sound when the elders of the family and my mother approached me. But I had sympathy for my aunt and her family, so I accepted the proposal. I spent three good years with Maria before things changed for the worse,” he shared.
It has been over three years since Maria first fell sick. “I have taken her beatings and have put up with her verbal abuse. I am the one who suffers the most but I just cannot abandon her. Many people suggest I divorce her and find a new wife but I am a God-fearing person. I could have been in my wife’s situation. I will not leave her until returns to God peacefully or who knows, may I will be the first to go,” he said.
Musarrat Rehman was not only Maria’s neighbours but also studied with her at the same college. “She had a profound interest in the subject of accounting. She would never hesitate to help other girls,” she said.
“The pharma treatment is available for the patients in Pakistan like anywhere else,” said Dr Wasay. “However, the supportive care with attention to nursing needs, dietary intake, special equipment, and eligibility for state and federal benefits are not ideal in Pakistan,” he added.
He said that genetic testing can easily diagnose this condition, but this facility is not available in Pakistan. “It is very discouraging to see that only a minor effort is being made to create awareness about this disease or rare genetic disorders in general,” said Dr Wasay.
“We can only control its symptoms with medicines, but cannot completely cure it because it is a genetic illness,” he said, adding that with advanced age its symptoms get more severe.
Sheema said that her father and elder brother worked for Pakistan International Airlines and they were treated at all leading hospitals but their condition got worse with time. “No treatment helped them,” she said, adding that such is life for families with rare genetic disorders.
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