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caregiving for a person with a rare disease is about accepting 'without any expectations'
4 minute read
shafqat hussain with his little daughter zahra and his two children who live with arginase 1 deficiency, hareem, 15, and faiz, 21.
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shafqat hussain says all his children are gifts, with some requiring extra care and patience.
his eldest son, faiz, 21, and his daughter, hareem, 15, have a rare hereditary condition, arginase 1 deficiency, caused by mutations in the arg1 gene.
arginase deficiency is a metabolic disorder characterized by the production of an abnormal enzyme called arginase. this enzyme is essential for breaking down arginine, a building block of proteins, into urea, which is then excreted by the kidneys. without sufficient arginase, the body can’t process arginine, resulting in high levels of arginine and ammonia in the blood. this can cause neurological damage and other symptoms like spasticity, seizures and intellectual challenges.
to cope with a new world of care requirements, shafqat moved his family to toronto to access medication for two of his children. but when the medication was unexpectedly no longer available from the pharmaceutical company, the family returned to calgary.
now, the calgary geologist and father of four is driving for a ride-share service so that he can keep close to home if he’s needed.
navigating the challenges of rare disease caregiving
despite his calm acceptance and easy smile, there’s no doubt the journey as a caregiver has been difficult. he’s quick to point out that he and his wife take anti-anxiety medication to manage the continuous and lifelong care required for their two children with this debilitating condition.
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“we don’t expect them to manage themselves independently. the hard part as a caregiver is to control our emotions and think in their level of thinking, not on their age,” he says of the developmental delays from the condition.
“i would suggest all caregivers handle these gifts very carefully. be patient and deal with them as your responsibility without any expectations,” he advises.
as a parent and caregiver of children with a rare disease, life has taken unexpected turns. for now, it’s meant isolation for the family because of faiz’s anxiety and obsessive-compulsive disorder, rooted in his disease. “no one can come to our house. we can’t go out anywhere, so there’s no intermingling,” shafqat says.
the impact of medication access on rare disease symptoms
his son has been deeply affected by the rollercoaster of medication that helped and saw him flourish, followed by the decline when it was no longer available. on the medication, faiz was able to play sports, do well in school and go on to study interior design. but his mental health later plummeted. he stopped everything and withdrew.
“his anxiety level went high, his psychiatrist, psychologist, everyone was involved and they said don’t push him under pressure. he is on an anxiety pill. he finally quit everything since 2020,” after more than a year without medication that damaged both children physically and mentally. shafqat explains that faiz prefers solitude, although he and his sister are back on the medication through pre-approval special access.
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“finally, things are getting better, but whatever damage is done is done. he is psychologically so depressed that he was not able to come out of his room for six months.”
faiz was born in pakistan, and the family came to canada when he was six months old. he was having stomach issues, so doctors prescribed antibiotics. that didn’t help, and he refused to drink milk, formula or eat soft foods, so he was gaining very little weight to meet development milestones. while the family was referred to specialists, no one had a solution or could detect that he wasn’t hearing properly — his severe hearing loss wasn’t diagnosed until he was five.
shafqat talks about the terrifying weekend etched in his memory when his son had diarrhea that wouldn’t stop. the only option was emergency, where they did bloodwork and sent him home. they were called back to the hospital with the urgent request to pack a bag for admission for at least 15 days.
“that was alarming, and one of the metabolic doctors said there’s something very unique that they were really worried about.”
they put faiz on a feeding tube, and he had extensive testing to finally get a diagnosis. his care included a restricted diet with little protein.
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when they had their first daughter, hareem, in 2010, she was diagnosed at birth and faces similar challenges as well as spasticity. again, shafqat expresses the same quiet acceptance about navigating care for a second child with this rare condition.
“we were basically managing them the way we could,” helping support their speech and mobility that improved with the restrictive diet. they moved to toronto in 2018 for four years, where they could receive an effective medication.
“then suddenly the medication stopped, we were worried about what to do and thought there was no reason to stay (in toronto). then we moved back. but then the effects worsened,” he says of the physical spasticity, cognition challenges and overall mental health. faiz is struggling to accept the further debilitation that he will never recover.
as well, there are trips to the hospital with vomiting and irritability from stress or protein that causes high blood levels of ammonia. “nowadays it’s not very often because the levels are pretty controlled now, but it used to happen a lot,” shafqat explains, noting that access to the medication is key to maintaining quality of life for his kids with arginase 1 deficiency and his family — yet access is still through special access because the drug has not been approved for market.
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finding joy in the ‘gifts’ of today
all this must feel like a world out of his control, with underlying uncertainty and constant stress as time ticks on. yet, shafqat focuses on the good things and staying in the moment. he picks up his little daughter zahra, 2, whom he calls another “gift,” with a wide smile and holds her close. “she wants me to go, so i’ve got to go,” he laughs, just happy to be a dad.
rare disease day is celebrated on feb. 28, 2026, to raise awareness about rare diseases and their impact on people’s lives.
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