GATA2. It sounds like something from a SciFi movie, doesn’t it? Perhaps the name of a newly colonised planet, or a space station or something.

But no. It’s a protein that regulates gene expression and it plays a key role in the production of your blood cells.

And, like young Andre, you can be deficient in it.

GATA2 Deficiency Syndrome

GATA2 deficiency syndrome is a relatively newly recognised condition, first reported around 2011, and it can show up in people in a variety of ways. One of them is problems with the production of good healthy blood cells, and people with GATA2 deficiency are at risk of developing myelodysplasia syndrome and various forms of leukaemia.

Allogeneic stem cell transplant is currently the only cure for GATA2 deficiency and is the treatment 18-year-old Andre received to cure his disease.

Andre

Except for a few skin conditions, Andre was a normal, healthy, active teenager who loved to surf and who had just started an apprenticeship as an electrician. He was enjoying life and was moving into the independence of early adulthood: he had his job, and a loan to buy a car. Life was good.

Andre had surgery lined up for what was expected to be a minor issue. In preparation for the surgery, he had a blood test which was when some anomalies were noticed in his blood: extremely low neutrophils. That, combined with a history of various skin conditions that did not respond to the usual treatments, led doctors to investigate further, and his GATA2 deficiency was discovered.

Genetic Testing

Since GATA2 deficiency is a genetic condition, the doctors asked the whole family to undergo genetic testing.

You know the kind of thing: where you discover whether your love of the water is because you’re related to a Viking sailor? Well, that’s what Andre’s family had to do – but instead of discovering their familial and cultural heritage, it was to determine the genetic roots of Andre’s GATA2 deficiency.

Stacey, Andre’s mum, recalls, “It was nerve-wracking. There was a high chance that our other son would have GATA2 deficiency, too, so we were really worried about it. But of course, we didn’t want to upset the kids, so we had to keep it all pretty light. “They’re just looking for ways to help us”, we’d say.

The genetic testing brought good news: Andre’s brother did not have the same genetic mutation and in fact, was a good match for a stem cell donor for Andre.

Stem Cell Transplant

Andre began treatment with an allogeneic stem cell transplant for myelodysplasia syndrome, using his brother’s donated stem cells. The stem cell harvesting and transplant went as smoothly as they usually do, but no matter how well things go, no-one can deny that a bone marrow transplant is a long and tough procedure, with lots of difficulties to get through along the way.

(Picture: Axel donating his blood stem cells to his brother Andre)

“Nothing can prepare you for seeing your child so sick,” Stacey said. “When someone gives you PPE, basically a hazmat suit, just to clean up bodily fluids when your child is sick or has diarrhoea – and they do…a lot – that really hits you. It’s just awful knowing that the treatment is making them so sick, but that if you don’t do the treatment the outcome is going to be much worse.”

“I was terrified,” Stacey continued. “Inside, I’m wondering how the world is even still spinning, but on the outside, I just had to hold it all together for my kids. I’d say things like ‘How lucky are we to have such great care?’ or ‘Wow, that doctor is so knowledgeable, isn’t he?’ and ‘That patient we met, he had some great tips for how to make hospital a little easier!’

While Stacey tried to remain positive, one thing that reassured her was knowing they were receiving excellent care at the Royal Brisbane and Women’s Hospital. “We were looked after so well. I’m in awe of the medical team who took care of us. They were all such brilliant, clever people, and so good at the work they do. The nursing staff in particular were really great with Andre.”

Another source of comfort was Arrow’s Straight and Marrow podcast, which provides information about allogeneic bone marrow transplant as told by medical health professionals, patients and carers. “What a great resource that podcast is!” Stacey said.  “Yvonne and Alex, the hosts, and all the guests they have are just so calm and reassuring. They don’t hold back on any of the information you need, but to hear it delivered in such a warm and non-threatening way is a real gift. I couldn’t face reading the books and pamphlets a lot of the time. It was just too confronting seeing it all in black and white, but I could put my earbuds in and have a reassuring voice with me as I went about my day. I could pick and choose the episodes I listened to, and I always knew that as each new thing came up there was an episode that I could choose that would cover that topic. It was the right information at the right time, and delivered in the right way. It’s like finding a nugget of information that is as valuable as a nugget of gold. Such an important resource.”

The Hidden Costs of Stem Cell Transplants

Throughout Andre’s stem cell transplant, Stacey and her husband felt huge financial pressure. They had to sell off half of their business, as one parent stayed full time in Brisbane with Andre, and the other was at home looking after their other son and keeping the rest of the business going.

“It’s a real shock to family finances,” Stacey said. “And it comes at you like a freight train.”

Arrow stepped in to help cover the cost of groceries, travel and internet costs for Andre. Spending 100 days in isolation in the hospital was extremely lonely for Andre, and staying connected with his friends through online gaming on his Play Station was crucial to his mental health.

Stacey appreciated how easily they were able to access this support from Arrow “The support you provide through the vouchers and paying for bills and other expenses is amazing. Arrow was so flexible and accommodating. You really listened to what we needed and worked to give us that. It didn’t feel like there was a one-size-fits-all system at all. We felt really well supported.”

The Kindness of Strangers

Andre, who was a young adult at the time, knew how much his treatment had changed the family’s dynamics and income, including his own employment which he had to leave before the transplant.

When Arrow stepped in and helped with paying bills for him and his family, Andre was blown away by the generosity.

But why would people do that, Mum?

People who don’t know me, don’t know us at all, but they’re still helping us. Why?”

“Because the world is full of good people, Andre,” Stacey replied. “Many people have been through this before us, and there will be more who will come after us. People who have been through this themselves know what we’re going through, and they want to help where they can.”

Stacey added, “Please tell all the people who support you at Arrow what a huge difference their generosity made for us. Andre has learned some incredibly valuable lessons through all this, including knowing that he can rely on the kindness of strangers. The generosity of people who support Arrow is way more than just money. It tells you that you’re not alone, that the world is not as scary as it might feel right now, and that there are people out there who care. That’s worth so much more than money.”

“Every single bit of support has been incredibly helpful, not just financially, but also mentally. It has represented the care and goodwill of community at large for a teenager during what can at times feel like a lonely experience, particularly during the 100 days of isolation. It is worth so much more than we can say to know that the community acknowledges this fact and seeks to ease the financial burden”.

(Picture: Andre with his brother Axel, after being released from hospital)

And Now?

Now that Andre is through his 100 days of isolation and back home, with the stream of appointments and testing starting to slow, he is beginning to look towards getting some of his old life back.

“He’d lost everything during his treatment,” Stacey said. “He’d lost his job, couldn’t pay his car loan, lost his car. And for a young man who is just getting a taste of the freedom of early adulthood, it was really tough psychologically. But when Arrow was able to send petrol vouchers directly to him and not me, so that he could put petrol in the car and get himself to appointments and the like, it just made such a difference to his outlook. He could see that he would get through this, and that he could be a normal young man again.”

Andre is now keen to embrace life again. He’s getting back into work, starting a new job at a restaurant and taking extra shifts when he can. With a new outlook on life, he’s moving forward towards his adult life once more.

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If you would like to support families like Stacey and Andre as they navigate the challenges of a bone marrow or stem cell transplant, consider donating to Arrow. Your generosity can help provide the financial and emotional support that makes all the difference during these incredibly difficult times. Donate today.