As told to Elli Jacobs
Having children was always a big dream for me and my husband Raymond. After two years of unsuccessfully trying to conceive naturally, we began IVF treatment. After one miscarriage and one failed implantation, I finally conceived, giving birth in 2014 to our daughter, Charli.
After two years, we decided to expand our family. When natural conception failed once more, we resorted to the seven remaining embryos from our previous IVF cycle. We had no luck however and so I underwent another round of IVF, which resulted in three new embryos. I became pregnant after the first transfer, but sadly, I suffered another miscarriage.
Emotionally drained and financially struggling to continue, we decided to transfer both remaining embryos simultaneously, hoping that at least one would result in a successful pregnancy. In a promising turn of events, I ended up carrying twins through a relatively smooth pregnancy, and in October 2019, at 35 weeks, I gave birth via Caesarean section to Axel and Aria. They initially appeared to be two very healthy babies, spent a week in the neonatal intensive care unit (NICU) for routine monitoring and then a week later, were discharged.
Up until the four-month mark the twins were feeding and sleeping properly. Then I noticed Axel wasn’t meeting milestones in the same way as Aria, who was sitting, rolling, and uttering her first words. Also, his gaze consistently focused on my forehead and at first, I suspected autism.
An assessment revealed he had global development delay (GDD), a condition which significantly slows down cognitive and physical development in children between birth and 18 years. Through the National Disability Insurance Scheme (NDIS) we got physical and occupational therapy for him.
Unfortunately, not long afterwards, Aria began to refuse her bottles and showed significant signs of weight loss, including struggling to sit upright. Her paediatrician put it down to muscle weakness and thought it would rectify itself once she regained proper weight. But at nine months she was so fragile, that in August 2020, she was admitted to hospital where an MRI revealed she had leukodystrophy, a group of more than 50 inherited neurological disorders that cause progressive loss of neurological function in infants and children. Consequently, an MRI showed that Axel had enlarged canals in the brain that would require monitoring.
Two days later, Aria’s uncontrollable vomiting took us to the neurology department at a children’s hospital. Further genetic testing was necessary to determine her specific type of leukodystrophy. Our entire family underwent genetic testing, a process made even more challenging due to the pandemic.
ARIA’S BATTLE
In October, Aria fell into a comatose state. The hospital doctors couldn’t do anything for her and prognosed that she only had a month at most to live. Three days later we decided to take her home and were discharged under home-based community palliative care. Around-the-clock nurses provided pain relief and medical assistance to help manage her seizures. When Aria’s results came back, they showed she had Vanishing White Matter Disease (VWMD), a rare and fatal form of leukodystrophy, because of a combination of my and my husband’s genes. We both were carriers of the VWMD gene, without knowing, with a one-in-four chance of having a child being affected and carrying the full gene, which is terminal, as no cure is available. I felt numb, angry and unable to take in the news. I cried constantly and worried about what this horrible disease would do to my baby girl. All I could do was at least ensure she wasn’t going to be in any pain.
As Aria fought to stay alive, Very Special Kids (Victoria’s only children’s hospice) helped us navigate life with a terminally ill child and break the news to Charli in an age-appropriate way. They even arranged for immediate family to get special passes to come spend time with her during lockdown.
MAKING MEMORIES
With the additional assistance of children’s charity TLC for Kids, we created a few memories with Aria, including hand and footprint moulds, we turned Aria’s fingerprints into jewellery, I got a tattoo of her heartbeat, and we visited Glen Osmond Farm where we got to relax as a family. Aria surprised all her doctors and her care team, and she lived for nine months past her initial prognosis. When she died on 13 May, 2021, I was flooded with an overwhelming number of mixed emotions, ranging from profound sadness, anger and pain to a sense of comfort knowing that she was finally free from pain and was no longer suffering.
In February 2021, Axel’s test results revealed that he had a rare genetic condition called IQSEC2. While it’s not terminal, he’ll need 24/7 care for the rest of his life.
Just two weeks after losing Aria, I embarked on Axel’s treatment journey, which was a challenging transition, especially since I was, and still am grieving Aria’s passing.
CARING FOR AXEL
Axel, now age four, has up to 10 hospital appointments a month, multiple surgeries a year and weekly therapy appointments with his specialist team, including occupational and physical therapy, speech therapy and sees a special dietitian to ensure he receives adequate nutrition as he’s PEG fed through a tube into his stomach.
He is on 16 different medications a day, suffers from a bowel condition, experiences 5-10 uncontrolled seizures daily, and has respiratory compromise.
We’ve been told he will never walk, stand or crawl. We were advised that he should be able to sit on his own, however, he’s still unable to sit unassisted.
Fortunately, Charli was identified as a non-infective carrier of VWMD, which means when she decides to have children, she’ll need to have her partner tested and depending on their combined genetic profile, either go ahead and conceive naturally or through IVF where they’ll be able to mitigate her children becoming carriers, unlike her siblings.
I feel in my current situation, I can’t afford a breakdown, because I’ve got Axel, whose care doesn’t stop. I’ve only just in the last 18 months returned to work, but only part-time around his carer hours, which gives me respite and has been good for my mental health, but not being able to work full-time has put a lot of strain on our finances.
Luckily one of his three carers is my best friend, and that allows us to spend quality time together. Very Special Kids has given us bereavement support and Charli has received mental health support. She struggles with the loss of her sister and is probably scared of losing her brother seeing how unwell he is. She struggles to sleep on her own and seeing other children with their siblings, feels lonely as she can’t play with Axel. With my husband, we’ve tried to coordinate time for ourselves around the carers but it’s difficult. Apart from not being able to afford holidays, we’re often so tired and run-down that we can’t motivate ourselves to go out.
Associate Professor Cheryl Shoubridge at Adelaide University and Professor Andrew Levy from the Israel Institute of Technology are currently doing research into IQSEC2, with promising results. Axel is only missing one protein in the brain which is causing all of this, and they seem to have some promising signs of being able to restore this key protein.
I’ve also connected with one of the two families in Victoria whose son is dealing with the same genetic disorder, although his case is less severe than Axel’s, and we do share experiences and try to help each other out. Unfortunately for now Axel’s condition is not being treated – only his symptoms as they present. This is mostly his seizures, bowel challenges and his visual impairment, which limits his vision to only about a metre in front of him.
HOPE FOR THE FUTURE
My goal is to make available rare genetic disease testing for all newborns as part of the standard duty of care for free. I want people who have children with rare diseases to know that they’re not alone. I aim to raise awareness of my son’s condition in hope that this brings on research and one day there will be a cure.
Even though he’s only one of approximately 130 people worldwide with this condition, he matters. Every child with rare disease matters, and I will ensure they don’t get left behind.
Better Support For Children With Rare Diseases
Diseases that affect only a tiny fraction of the population, fewer than one in 2,000 people, are considered rare. The rarity of these conditions raises some unique challenges.
According to a report commissioned by Rare Disorders New Zealand and based on international data, there are over 6,000 known rare disorders, estimated to affect up to 300,000 people in New Zealand. In Australia, around eight per cent, or two million people live with a rare disease of which 80 percent are genetic.
Kate MacLean, occupational therapist at Explore Therapy New Zealand, says that the greatest challenges families face with a child’s rare disease is learning what their child needs and being able to provide that constant care and support on a daily basis, as well as coping with the expenses of therapies and equipment to develop their child’s independence, quality of life and safety.
“In New Zealand most of the funding is allocated to families to fund therapy outside school hours, but children with rare diseases fatigue quickly and expecting them to participate in sensory-based activities after school is cruel and counterintuitive,” says MacLean.
“For a lot of children sensory play, such as animal walks, climbing, swinging and spinning, or messy sensory play, helps support their emotional wellbeing and calms their nervous system, which helps them feel included, confident and successful in a task,” she adds.
“Therapy and these services are vital during school hours if we value our children’s wellbeing and their ability to reach their full potential and be included within our society.”
Rare Disorders New Zealand makes these suggestions for families:
- Ensure you make time for your other children
- Nurture your relationships with others, especially close friends
- Tend to your romantic relationship even if that means a ‘date night’ at home
- Look after yourself by developing healthy behaviours or talking to an expert
For more information:
Rare Disorders New Zealand: raredisorders.org.nz
