Help change the future for children like Tae

Tae was sick since he was born. At nine years old, he was finally diagnosed with an inherited Bone Marrow Failure – Shwachman Diamond Syndrome. After losing his dad to gastric cancer just three years earlier, Tae then underwent two bone marrow transplants to try and save his life. Devastatingly, it did not. Tae passed away at the age of just 11, and the world lost a beautiful soul. Tae’s mother Seol shares their family’s story.

A devastating diagnosis

Tae was sick since he was born. His loving parents, Seol and Greg, took him to doctor after doctor trying to find out what was wrong, it was an incredibly challenging time.  He was then diagnosed with neutropenia, a medical condition in which there are not enough white blood cells circulating in the blood stream.  In 2016, at the age of 4, Tae was also diagnosed with chromosomal deletion syndrome and neurodiversity -he had Autism.

It wasn’t easy, but Tae’s remarkable personality and ability to bring joy to everyone around him helped alleviate the challenges for the family.  However in 2017, Greg received a devastating diagnosis of Gastric cancer. The cancer was very aggressive, and he fought for almost two years. Greg sadly lost his battle in July 2019. With all of the family overseas, Seol was left to raise Tae and their daughter Lea alone.

Then COVID hit. Seol, Tae and Lea grieved, but managed in lockdown until they all got COVID in late 2021. While Seol and Lea got better, Tae did not. He managed to keep up his bright and resilient spirit but in April 2022 when he got an infection on his leg that just did not get better, Seol knew that something was very wrong. She rushed him to emergency at the Royal Children’s Hospital. Tae and Seol were referred to an amazing Haematologist who took them under his wing. He quickly arranged for Tae and the family to participate in the Maddie’s Vision EMBRACE Generic Testing clinical trial. After a number of tests, Tae was also diagnosed with an inherited Bone Marrow Failure Syndrome called Shwachman Diamond Syndrome – which is why he was born neutropenic.

Lost, Confused & Isolated

Seol felt lost, confused, depressed and moved to self-isolation so she didn’t have to try and explain what was happening with Tae.  Seol shared:

“I just didn’t know where to start. I started to wonder, why me? Why Tae? I was so overwhelmed that I stopped talking to my friends and the families at school. Everyone thought it was cancer and they just didn’t understand that this diagnosis was equally life threatening.”

Even though their haematologist spent hours explaining the diagnosis to Seol, it was a huge amount for her to learn and process. Shwachman Diamond Syndrome is a very complicated condition and there was so much information to take in. Tae was immediately placed on the donor list, with a bone marrow transplant his only chance of survival.

Finding the right support

Seol was referred to the Maddie’s Vision Telehealth Nurse Service straight away, but with all of the complex information she had received, it just felt like one more thing to do.  It wasn’t until one week before Tae’s bone marrow transplant that she reached out to the service.  She immediately found the support that she was desperately seeking.

“The Telehealth Nurse was the perfect person to fill the gaps in my knowledge. The doctors and nurses were always so busy, so she really helped me develop the right questions to ask my clinical team. She was so amazing and approachable.  I then realised why I should have reached out earlier. Knowing she was only ever a phone call away made such a difference.”

Navigating a frightening treatment

Luckily an overseas donor for Tae was found, and planning for his transplant happened quickly. Tae began pre-conditioning in August, with intensive chemotherapy to wipe out all bone marrow function and his immune system before the transplant. But despite all of this, Tae adored being in the hospital. His neurodiversity really helped him – he loved new faces, meeting new people and the routine of hospital and treatment.  He soon became one of the most popular patients in the ward as he shared his infectious joy with everyone he met!

On the 1^st of September 2022 Tae had his bone marrow transplant. Aside from graft vs host disease affecting his skin, Tae responded well. His bone marrow started working again and he was stable. In November, Tae want home. Seol and Lea were so happy to have him home and recovering.

Seol, Tae and Lea tried to resume life. Tae was weak and not able to go back to school for months.  His doctors kept monitoring him and although his platelets had dropped, they were confident in his recovery.  

Then, in May 2023, Tae got to go back to school.  The students and teachers were waiting for him inside the school gate.  Waiting to welcome him back to the community that he loved, and who loved him. Tae was overjoyed and so excited to see all of his friends again.

Tae only went back to school for two days.

Relapse

An extremely worried Seol rushed him to emergency – he was covered in lumps. The doctors didn’t know what was wrong. Seol remembers:

“He endured multiple scans and tests and was so very sick. Then it was confirmed, Tae had relapsed. Our haematologist gave me a choice, to try another bone marrow transplant or move Tae to palliative care.  I was devastated”

Seol made the decision to try another transplant. She just had to try.  For months Tae was in and out of hospital as the doctors worked tirelessly to get him well enough for his transplant. Tae again began pre-conditioning and had to undergo more chemotherapy on his already weak body. In September 2023, Tae had his second transplant.

This time, he didn’t respond well. Whilst the doctors did everything they could, Tae began to slowly die. He suffered multiple post-transplant infections and then lost his eyesight and the ability to walk. His kidneys started to shut down and his big, beautiful heart started to give up.  Tae’s clinical team laid awake at night trying to think of other ways to save him.

Devastatingly, they could not.

The end of a long fight

When his fight was ending, he was moved out of intensive care and back to the ward with all of the staff he knew and treasured. Tae was determined to go on – he didn’t want to give up. When word got out that his battle was almost over, the staff at the hospital that had been touched by Tae’s joy, love, generosity, humour, resilience and incredible ability to see the good in everyone, started to visit him to say goodbye.  Soon there was a line outside his room and up the hallway. People all waiting their turn to farewell this extraordinary boy.

Tae enjoyed it so much that he stayed longer than expected to make sure he could see every single person.  Once all his visitors had left, Tae was ready. His beautiful soul left this world on the 3^rd November 2023.  He was only 11.

Over 1000 people attended Tae’s funeral, with the first three rows of the church reserved for the wonderful healthcare workers that helped him and his family throughout their journey. It was a celebration of his amazing life and the exceptional impact he had on everyone he met in his 11 short years.

Navigating Grief

When reflecting on the loss of Tae, six months later, Seol is trying to manage her grief and stay strong for Lea. She shared:

“I am also grateful to all the people who want to speak to me about Tae. Being able to share his story helps me remember him as he lived. I just miss everything about him, his big personality and all the times he would randomly say he loves me every single day. Life is now very quiet. But, I can hear him saying “Mum, you can do this” and I feel his strong spirit around me. I now want to give back to all of those who have helped us and try to keep moving forward.”

Changing the future

Maddie’s Vision established the Australian first Centre of Research Excellence in Bone Marrow Biology (CRE).  There are now 28 Executive Members of the CRE, all dedicating their brilliant minds to research in both acquired and inherited Bone Marrow Failure Syndromes.

Thanks to the connection and collaboration opportunities offered by the CRE, there are currently seven CRE members working on an innovative research project which aims to develop cutting-edge gene editing technologies that hope to prevent children and young adults from dying of inherited bone marrow failure syndromes. The focus is to locate and edit disease-causing mutations in bone marrow stem cells to ensure a lifelong source of normal blood cell production.

Chief Investigator, and Head of Genome Stability at the St. Vincent’s Institute of Medical Research, Associate Professor Andrew Deans, shares:

“This project will improve stem cell transplant success rates by removing the need for an unrelated donor and the toxic conditioning that is currently needed for a successful bone marrow transplant. Ground breaking gene editing technologies were science fiction until recently. But their rapid development and our ability to use them safely in blood cells mean we can work towards translating them in to clinical use. If successful, this will not only save lives of patients with inherited Bone Marrow Failure Syndromes, but many other genetic conditions.”

When sharing this cutting edge research with Seol, she said:

“Bone Marrow Failure Syndrome research is so important and we must continue funding innovative work like this. If this project was happening a few years ago, then Tae could still be with us and we would have his beautiful spirit back in our lives.  There is so much more to learn and understand, but with your support we can change the future for other children just like Tae, and help save lives.”