Mar 22, 2020, 3:16 PM
Sue and Lizzie

My daughter Lizzie was born in 2003 in Rotorua. She was a full-term baby delivered by emergency c-section. Initially she seemed well. She was a good weight with good Apgar scores, she latched well and seemed peaceful. By day two, however, Lizzie began to fret and struggle. She would not feed and could not settle. She was admitted to SCBU and given oxygen but her condition worsened. Later that day she was seen by the Paediatrician on duty who had just returned from an Echocardiogram training course. This is a pivotal piece of information because if he hadn't been on duty and hadn't just been on that training course, Lizzie would have died within a couple of days.

The Paediatrician felt strongly that Lizzie had something called Velo Cardio Facial Syndrome (now known as 22q Deletion Syndrome). Seventy-five percent of people with 22q have cardiac anomalies, and it had been a significant topic during his training. Heading towards 48 hours old, Lizzie's Ductus Arteriosus (DA) was beginning to close, but her heart was malformed and unable to start its ex-utero functioning. On the assessment of this, steroids were administered to keep the DA open and Lizzie was flown to Auckland for open heart surgery.

On our arrival there (following Lizzie's helicopter by road), we were met by a geneticist who said 'your daughter has VCFS, there are no support groups in NZ, see ya 'round" (I may be paraphrasing just a tiny bit).

Lizzie survived the complex heart surgery and after 10 days we were sent back to our hospital with only the diagnosis and an uncertain prognosis. Over the next few weeks, Lizzie failed to thrive due to an inability to feed normally. After a few weeks more, we decided that Lizzie would have a gastrostomy tube sited; another operation at another hospital.

At around 8-10 weeks Lizzie came home for good. The following three years were filled with intense feeding and monitoring - and the beginnings of a long relationship with ENT to address endless ear infections. To try to help overcome this - and her speech issues - Lizzie underwent a palate repair at the age of five. Her speech improved but the ears did not. I'll skip over the next few years filled with ear surgeries: grommets, t-tubes, balloonplasties and so on.

22q Deletion Syndrome is a complex condition comprising more than 180 potential anomalies.  It affects the body, the blood, the brain, the mind, the emotions. This requires families like ours to access- then juggle - a wide range of medical, social and educational resources to assist our children.  Often, we’re trying to do so at a time when we’re feeling overwhelmed and exhausted.  Access to good services often requires making private appointments or travelling long distances for care.  As you can imagine, in addition to being emotionally under resourced, families often don’t have the financial wherewithal for this.

By the time Lizzie was at school, we felt on much more solid ground physically - but mental and emotional health issues were starting to emerge. At this time, she was keeping up with peers academically at school.

But at the age of eight, the extreme anxiety that Lizzie had always suffered bloomed into a complete breakdown. Finally, we visited a psychiatrist privately. He prescribed psychiatric medication and DHB Mental Health Services were finally obliged to see Lizzie regularly. It has been a long journey through two different DHBs but in the last few years we have received some very sensitive mental health care. We managed to form a team of people who could discuss options, try interventions, monitor outcomes, finetune and finetune again.  Sadly, due to funding -and to Lizzie’s increased emotional stability, we have been discharged from community mental health and we are, once again, alone. 

Writing this has made it shockingly clear that this loneliness is exacerbated by a lack of professional information sharing along our 17-year long journey.  I have encountered far too much territorialism and ego. Some of the things said to me – mostly by medical professionals, but sometimes by educators – have been not only unprofessional and unhelpful, but also cruel and damaging.

Despite its prevalence being second only to Down Syndrome, 22q DS is much more recently described. It was being worked on separately in the '70s and '80s by three different teams and it took time to stitch the entire syndrome together under one name. Diagnosis rates are improving and knowledge among clinicians has improved significantly over 16 years, but it's still a difficult and frustrating path. Moreover, babies with heart conditions like Lizzie's often die within the first week of life, so we're still working on figuring out exactly how many people are born with 22q; best guess is 1/2000 births.

Because 22q DS has not been well known or understood, parents have often been judged as neurotic, negative or overreacting. Trying to find energy and confidence to refute this and get what Lizzie needed was exhausting and demeaning - and my child was still deeply unwell.  Of course, there have been a few bright, beautiful, helpful stars along the way and each time I’ve encountered one I’ve experienced a tsunami of relief and gratitude. 

So,there’s has been no shape or coordination to Lizzie’s care. We handle each health, education and social ‘portfolio’ separately. We tell her story again and again and again. We attain a level of health or stability – and we are discharged. But this is a lifelong condition from which Lizzie can only be discharged by death. I have often fantasised about some overarching ‘22q Deletion Director’ who can help coordinate all the needs that Lizzie has had, has now and will have in later life: social, educational, medical, financial. Research is showing us that people with 22q deletion Syndrome are susceptible to autoimmune disorders later in life, that intellectual function may further decline and, of course, there’s the ever-present heart condition. So many balls to keep in the air and I cannot be here to juggle them forever. 

Our medical ‘team’ continues to change and shift.  There are a couple of things in the ‘run out of ideas’ basket, a couple of things filed under ‘watchful waiting’ and several in the regular maintenance file. We are approaching the time when Lizzie will no longer be able to be admitted to the paediatric wards in hospitals. We have already been transitioned to adult heart services (a very well-coordinated service) but I dread those acute admissions when I will not be able to stay with her.  Her body may be adult, but her capacity is not. 

And we are now, like many other parents, worrying about our own mortality and what life will be like for Lizzie as an adult. Where will she live? With whom? How can she be safe? Where can she find meaningful work and how can she stay connected to her community? We practice and practice the daily life skills she will need. The upside of this is that she’s an excellent cook! 

The advent of individual funding over the last few years has helped immensely. We can now offer a living wage to people who can help us. We pay for some respite, for some physical and psychological therapy. For the first time, I can hand over some tasks, be a little more mum and a little less drill sergeant and therapist. 

Everything we have, everything we do, we’ve figured out for ourselves. Australia eventually formed a 22q Foundation and, under my impetus, New Zealand joined them. I served on the board for many years and every single thing the Foundation does is to help the newly diagnosed avoid the tribulations that we parents of older children have endured. 

That 22q Deletion Director may be a fantasy, but the concept of a ‘whole family’ diagnosis should not be. I try to imagine if, when Lizzie was diagnosed with a lifelong condition, there was a blueprint for coordinated family care. Of course, the person diagnosed should receive laser-like focus, but primary caregivers also need a strategic support plan and formalised care. Burning out when you are the mother of a child of complex needs is a frightening experience. All the same responsibilities and relentless tasks must be performed by a cardboard cut-out mother, who would rather just stay in bed.

I have never had the luxury of simply being Lizzie’s mum. I am her advocate, her medical officer, her education director, her social worker, her therapist, her nutritionist, her dietician, work placement officer and retirement planner. She is both the best and the worst thing that has ever happened to me. I would make no changes to Lizzie’s lovely self, but I crave many, many changes to the world she lives in.

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