Little hero Zayn (7) won't let rare disorder stop him

Tiny Warrior Conquers Great Challenges

Zayn Cajee's mother, Raeesa Bulbulia, describes her little boy as loving, determined and extroverted, with a fantastic sense of humour. "From the moment he wakes up in the morning to the time he goes to bed, he doesn't stop talking!" she says.

"Zayn has come from being a little boy who was not guaranteed a first birthday, to being seven years old, attending a mainstream school and doing really well."

"Raeesa lost her first pregnancy at 26 weeks. Her second pregnancy, with Zayn, was closely monitored. "When we did our scan with the foetal specialist, nothing abnormal was detected," she says. Zayn was born at 35 weeks - around five weeks early - and spent a week in the neonatal Intensive Care Unit. When he'd reached a healthy weight, he was discharged.

"I am an occupational therapist with a lot of experience working in neonatal ICUs. So at home I did the exercises with Zayn that I would normally do with my premature patients. At around three months old, I realised that Zayn wasn't as strong as he should be. He didn't have good head control despite all the activities I was doing with him. However, the paediatricians we visited didn't seem concerned, despite our worry."

Zayn fights heart failure and pneumonia?

"When Zayn was five months old, he spent a few days in hospital because he had developed bronchiolitis (inflammation of the lungs). "He never really breathed properly after that. He coughed a lot and seemed tired all the time," says Raeesa. After that, a paediatrician suspected asthma and sent the family home with an asthma pump.

Raeesa said that one day when Zayn was six months old, she left work and went home to check on him. "He was asleep, and I could see the blankets moving up and down as he breathed. Normally with babies you need to get up close to see if they're breathing. I knew that was abnormal. Zayn was in respiratory distress."

"Raeesa and her husband Mohammed Cajee took Zayn to a pulmonologist, a doctor who focuses on the respiratory system. "Within five minutes of being there, the pulmonologist admitted Zayn to hospital. X-rays showed that Zayn's heart was really enlarged. It weighed 700g, more than 10% of his 6 kg bodyweight!"

The fragile baby was admitted into a high-care ward.

"A cardiologist that was on Zayn's treatment team told us there was nothing we could do. He said that because Zayn's heart was excessively enlarged, it was not functioning properly. His heart function was only at 23%. On top of heart failure, he also had pneumonia. The doctor told us nothing could be done and that we needed to make him comfortable. It was very hard to process and we weren't willing to accept that as an option. We started looking for other cardiologists who could help us."

Enzyme-replacement treatment saves Zayn's life

The family eventually found another cardiologist who thought that Zayn might have Pompe disease, and tests confirmed that Zayn has the condition.

Pompe disease is a rare genetic disorder. Mutations in the gene linked to the enzyme (acid alpha-glucosidase) that breaks down glycogen, a complex form of sugar, result in a build-up of glycogen in the body's tissues. Usually glycogen is converted into glucose (a sugar), which fuels the body. Too much glycogen causes weakness of the heart and muscles. Other symptoms include poor muscle tone, heart defects, an enlarged liver, feeding problems, poor weight gain and trouble breathing.

"Zayn is one of only four children in South Africa with infantile or early-onset Pompe disease. You have to start treatment before the child turns one, otherwise they can go into cardiac and respiratory failure and pass away," explains Raeesa.

Zayn then began an enzyme-replacement treatment, which he still gets every second week through an infusion.

"Zayn will be on this treatment for the rest of his life because there is no cure for Pompe disease. He also had to take cardiac medicine. For the first 18 months of his treatment, we had to go into the ICU for the infusions. The infusion takes a whole day and Zayn needs to be monitored to make sure he doesn't have a negative reaction to the enzymes."

"The enzyme-replacement therapy proved lifesaving. We also saw a huge improvement in his health. After 18 months on the treatment, Zayn's heart was back to normal and he'd come off all the cardiac medicine. I couldn't believe it!" says Raeesa.

A terrifying time in the ICU

"When Zayn was 21 months old, he got the rhinovirus (most often this causes the common cold). He was so congested that while he was drinking a bottle, he aspirated (fluid went into his airways or lungs) and his lungs collapsed."

What followed was a three-month-long ICU stay as doctors battled to expand his lungs again. Zayn, who was getting oxygen, also had to be resuscitated several times. "It was terrifying and we didn't think Zayn was going to make it," says his mom.

"Zayn was transferred to another hospital as doctors tried to figure out why his lungs kept collapsing. A bronchoscope showed that the left bronchi (airways) were very narrow and collapsing as he was breathing. They weren't sure why this was happening, because this wasn't a symptom of Pompe disease. Being on a ventilator helped keep Zayn's lungs inflated."

"Zayn was extremely sick and doctors told us that his borrowed time was running out. And Zayn was so unhappy. He understood everything that was happening and lying in hospital for three months, intubated, was so hard for our little boy, who was almost two years old."

"A pulmonologist suggested putting in a tracheostomy for Zayn, which we decided to do."

A tracheostomy is a hole that is surgically made through the front of the neck and into the windpipe (trachea). A tube is placed into the hole to keep it open for breathing.

Better health for Zayn

"Zayn came out of theatre a completely different child because breathing had been made easier for him. For the next year, Zayn's tracheostomy was connected to a portable ventilator, which gave his lungs the pressure they needed to stay inflated. It was life-changing and Zayn was much healthier."

During the operation to create the tracheostomy, doctors also inserted a gastrostomy tube into Zayn's stomach to make feeding him easier, as well as a port on his chest. The port allowed them to start doing his infusions at home without Zayn having to be poked with needles repeatedly.

"And so we went into our little bubble"

When Zayn was three, he contracted respiratory syncytial virus (RSV). This virus causes the infection of the lungs and respiratory tract. It can cause severe infection in babies, the elderly, and people with heart and lung problems.

"He spent five weeks in hospital, three of which were in ICU on a ventilator. It was a horrendous experience. And then, just after Zayn turned four, he had surgery to close his tracheostomy because it was causing problems. Unfortunately, his left lung collapsed post-operation and he spent another five weeks in hospital.

"Zayn was discharged two days before the COVID-19 level five lockdown started. And so, we went into our little bubble. The three of us didn't go anywhere or interact with anybody during that time. We were petrified about what it would mean for Zayn if he contracted COVID-19, given that his respiratory system was so compromised," says Raeesa.

Zayn has a special sidekick!

Zayn, who is now seven, is doing well. After being home-schooled when he was five and six, and with relatively few new, serious health concerns, he started going to a mainstream school in January 2023.

"Zayn uses a wheelchair, so a caregiver goes with to help him get around. He's picked up infections at school, including RSV and COVID-19, but thankfully, we've been able to manage him at home and avoid hospital admissions.

"Our days are full. Zayn goes for different therapies after school every day. Because he's got muscle weakness he needs occupational therapy, physiotherapy, hydro-physiotherapy (water therapy), feeding therapy and speech therapy. And because he's been through so much, he also goes for play therapy to look after his emotional wellbeing.

"Zayn also takes part in extra murals. He cycles for a team called Cycling Beyond Boundaries using an adapted bicycle and plays the piano beautifully. He also loves being in the pool because in the water there are no physical limitations," says Raeesa.

"Every second Sunday we give Zayn his enzyme infusion through his port, in the comfort of our home. It takes all day to run, so we use the opportunity to connect as a family - playing games, watching movies, cooking, and doing arts and crafts." And since 2022, Zayn has had a special sidekick - his little sister Nura. "Throughout the pandemic, Zayn nagged us for a sister. We didn't think we were going to have another child but when things got easier with Zayn we decided to try - and he got his wish for a sister."

"Zayn absolutely loves her and is so good and gentle with her. That said, it was incredibly difficult for him when she started walking. He said at the time, 'I'm happy for her, but I'm sad for me.' 

"Zayn has developed a strong personality because of all the things he has faced. He has had a lot of life experiences that many adults don't have. But he is extremely brave, and he says that people who are going through difficult things must be brave, even though it's hard."

Discovery Health Medical Scheme gives family peace of mind

"The enzyme-replacement treatment is one of the most expensive drugs in the world. Through all of this, Discovery Health Medical Scheme (DHMS) has covered absolutely everything, including his medicine, all the therapy he needs, and the equipment and disposable medical consumables we needed to set up our home to care for Zayn," says Raeesa.

"I can guarantee that if we didn't have a medical aid that covered us as comprehensively as DHMS does, Zayn would not be where he is today, and we would not have coped financially. Zayn is thriving now because he's had access to nothing short of first-class healthcare."