‘Death is the end point, but there’s a whole lot we’ve got to work through before we get to that point. You want to be in the best mind frame to make the right decisions for your child, for your family, for yourself.’
In 2018, the family had just moved to Melbourne when they noticed their three-year-old daughter Zareena had a speech delay. Up to that point Zareena had developed normally, so they didn’t think there was much cause for concern. But as her delay worsened, and began to be accompanied by intense outbursts, they sought answers from paediatricians.
Yash and Hank didn’t know at this point how difficult the process of getting answers was going to be. They ‘circled round and round’, consulting with numerous specialists in Australia. Zareena went through countless tests, lumbar punctures, scans and ECGs only for her parents to be told repeatedly that she had autism. This two-year long process of testing and misdiagnosis took a heavy psychological and financial toll on the family as they continued to push for an accurate diagnosis.
It was only when doctors saw physical deterioration – Zareena was losing her balance, tripping and having serious falls – that they agreed to do full genomic sequencing. This lead finally to a definitive diagnosis in April 2021 when Yash and Hank received the worst news any parent could: Zareena had a rare, incurable genetic disease – Juvenile Tay-Sachs disease.
Tay-Sachs is a degenerative disease caused by the absence of a specific enzyme in the body. Without this enzyme, fatty substances build to toxic levels in the brain and spinal cord, and attack the nervous system. While Tay-Sachs is inherited, people can be carriers without knowing – this was the case for the Zareena’s parents. ‘Zareena got a faulty gene copy from her father and I that we were not even aware we had.’
Yash remembers Zareena’s diagnosis with awful clarity: she was alone with her daughters, Zareena and her younger sister Ayva, during a harsh COVID-19 lockdown, isolated from family back in New Zealand and under intense financial pressure. Trapped in Melbourne due to COVID restrictions, the kiwi family didn’t have access to funding for Zareena’s therapy and medications. Zareena’s dad worked 12-14-hour days, six days per week to support the family and fund her medical expenses.
Being an inherited disease, Tay-Sachs has affected the family in multiple ways. Thankfully their daughter Ayva, then two, was tested and found not to be affected by the disease. However, soon after they returned to New Zealand in September 2022, their third pregnancy tested positive for Tay-Sachs. The rarity of this disease meant that first trimester testing was problematic in New Zealand. After a lengthy delay, samples had to be sent to Australia before a diagnosis could be made, meaning a medical termination couldn’t be carried out until the second trimester.
Their youngest daughter Milan, now 5 months, was a twin; her sibling passed away early in pregnancy. Milan is a carrier for Tay-Sachs but is not affected by it.
Zareena’s Care
Yash describes the way Tay-Sachs has affected Zareena, now eight, as her disease progresses. ‘First, she lost her speech, and then her cognitive ability. Then it was her ability to eat… it became very, very difficult to feed her safely.’
Zareena gradually lost the ability to walk independently, then to stand. ‘Now she cannot do absolutely anything herself anymore.’ Her parents have to do every part of her care for her, and with seizures occurring without warning day and night it’s a 24-hour job. Some aspects of Zareena’s deterioration have caught them off guard. ‘The part of your brain that controls puberty has been so badly damaged by the seizures, it’s pumped Zareena’s body into early puberty. Every single part of her body is affected – her muscles, her dystonia, the way her body is starting to twist and turn, her scoliosis. There are so many different things you didn’t think you’d have to manage, but you do – and they just keep coming.’
Yash explains why Zareena’s rarer juvenile form of Tay-Sachs (as opposed to the more common infantile form) feels particularly cruel. At the point she started showing symptoms, ‘we thought of a future for her. Yes, she had a speech delay, but everything else was fine. You dream of her wedding and other things she’s going to grow up and do. She met all her milestones and then they were taken away. And there’s nothing you can do.’
Not only do Yash and Hank have to cope with the emotional load of Zareena’s illness and the logistics of her constantly changing and increasingly complex care needs, they’ve also had to advocate for their daughter in the healthcare system, and fight for resources. They asked repeatedly to have oxygen for Zareena at home, so that she could recover more easily from seizures and respiratory infections without having to go to the hospital each time. It took months of fighting and many avoidable hospital trips before they were given access to the oxygen they needed.
Zareena’s care also involves what Yash describes as a huge invisible load. ‘We have to micro-manage three different teams just to keep Zareena at a good baseline. It takes four and a half hours to preload a week’s worth of medication. Over 200 syringes, cracking glass vials… Nobody sees that side of things.’
She and her husband are constantly in fight or flight mode. ‘You can never gain, you can only maintain. That’s what’s heartbreaking about this. You keep implementing and implementing, and nothing will get better, it can only get worse. You just try to keep it at a manageable level.’
There is no cure for Tay-Sachs. When Zareena was diagnosed, her parents applied to get her into trials, but they were located in Europe or the USA and were mostly focussed on the infantile form of the disease, so she was rejected.
Zareena’s sister Ayva, now five, has grown up witnessing her sister’s complex medical needs and deteriorating condition. Yash says Ayva has adapted very well, but that it’s hard for her to understand that her sister will die from Tay-Sachs. ‘We’ve been very open with her: explaining that Zareena is sick and that she will eventually pass away from this disease... It’s just about keeping those communication lines open, because when it happens it’s going to be extremely traumatic and we want her to be able to tell us how she feels. We want her to be able to deal with it in the healthiest way possible.’
Yash’s Experience with Kenzie’s Gift
Yash is currently receiving support from Tamaki Makaurau / Auckland-based clinical psychologist Cheska Hadleigh. For her, it’s been really helpful to talk to someone external – someone outside their circle of family and friends who can be objective. Yash appreciates the high quality of the support provided by her Kenzie’s Gift therapist. ‘You need to get those tools in place to walk this path.’
‘There’s a big difference between grief after the fact and anticipatory grief. It really takes someone special to understand how heavy the anticipatory side of grief is…. We’re coming up to three years of this grief now. It definitely takes a toll on your mental health, and your mental health takes a toll on your physical health. Everything is intertwined. Zareena is almost like my coping mechanism for my grief. I just have to get up and keep going based on her medical schedule. When that’s gone, it’s going to be very different. When you go to therapy, you do get the tools you’re going to need to be able to move forward. And it’s not just me that I have to think about, it’s my whole family. We want to get through this the best way we can.’
