Gloria’s Story
Gloria is the mother of 11 year old Sean. Sean is an amazing young man who underwent a stem cell transplant for X-SCID in 2012. This is her story…
“When Sean was about 10 months old, he caught a cold that just would not go away. Sean became very clingy, and although he had started showing signs that he was ready to walk, he reverted to crawling and constantly wanted to be held. Sean’s parents noticed he was losing weight rapidly; he became very thin. Sean had all but lost his appetite and had stopped sleeping through the night. They were concerned and took it up with their GP repeatedly, only to be met with inadequate answers and empty reassurances that Sean’s behaviour was normal.”
Sean is Gloria’s firstborn – a special young man with the New Year’s Day birthday of 1st of the 1st in 2011 (born at 11.42am). Sean proudly tells everyone that his birthday has all the Ones!

Sean was a beautiful baby, with a personable nature and a ready smile. From day one, he loved people, and people loved him. Sean would happily coo and smile at everyone and he loved cuddles and kisses. He was outgoing, and friendly, and basically a joy to be around. Sean would only become clingy and shy if he was feeling unwell, which was about as often as your average baby who caught his fair share of sniffles and coughs.

As he grew, Sean’s sniffles and coughs became more frequent, and he developed issues with his skin. A nappy rash that should heal in a few days on other children would take Sean weeks to recover.

When Sean was about 10 months old, he caught a cold that just would not go away. Sean’s parents, Gloria and Jonathan, noticed he started to become very clingy, and although he had started showing signs that he was ready to walk, he reverted to crawling and constantly wanted to be held. They also noticed that Sean was losing weight rapidly.

Sean had all but lost his appetite and had stopped sleeping through the night. As concerned parents, Gloria and Jonatha took it up with their GP repeatedly, only to be met with inadequate answers and empty reassurances that Sean’s behaviour was normal. They begged their paediatrician to examine Sean more thoroughly but they were told that he just had reflux. Since Sean had had reflux as a newborn, Gloria and Jonathan knew that  this was definitely not reflux and started looking for a second opinion. Their lives soon involved a myriad of specialists, who gave them a myriad of lotions and potions and booked them into a myriad of appointments and reviews. They bounced from medical professional to medical professional for two months, with Gloria’s gut instinct telling her that there was something seriously wrong with her baby boy, yet no one seemed to believe her. One GP went so far as to imply that she was just a hysterical first time mum, with the GP commenting that Gloria was a “frequent flyer” at her practice.

On January 5, 2012, four days after Sean turned one, their lives were turned upside down. As fate would have it, Gloria and Jonathan had bumped into her early childhood nurse, Margot Malcolm a week earlier, and she had noticed instantly that Sean was not well. She offered to pay them a visit at home and within five minutes of her arriving at their house, she urged them to make an appointment for Sean to see a doctor that very same day.

Fortunately, Gloria and Sean were able to see their new paediatrician, Dr Hugh Allen almost straight away. Unfortunately, the news was not good.

Gloria can still remember Dr Allen’s calm voice, telling her and her husband to drive home safely, pack an overnight bag, and then head straight to the Emergency Rooms at the Sydney Children’s Hospital at Randwick. She can recall Dr Allen’s phone call to the emergency rooms, telling them to prioritise their family on arrival. 

The moment they walked through the doors, they were whisked away for tests and X-rays, and Sean was diagnosed with a special type of pneumonia found in patients with a compromised immune system. Further tests over the next few weeks led to a definitive diagnosis of XSCID.

The doctors told Sean’s parents the best treatment option for him was to receive a stem cell transplant. The search for a compatible match went worldwide, and Sean was placed on the very top of the list. Both Jonathan and Gloria were tested, but neither of them were compatible. A month after the SCID diagnosis, they received news that a very good match had been found. The stem cells came in the form of cord blood, donated by the parents of a healthy baby girl living in America.

Sean entered hospital on March 19, 2012 and underwent an aggressive course of chemotherapy to prepare his body for the transplant. For 5 days, Sean’s mum, Gloria watched the nurses pump hazardous chemicals into their baby’s body. Gloria watched her husband shave her baby boy’s head when his hair started falling out as a side effect of the chemo. She watched as her son all but stopped eating, as his appetite was slowly eroded away by the effects of the drugs.

On March 27, 2012 at 11.26am, Sean was injected with 30mL of cord blood that saved his life.

Sean’s body accepted the stem cells and he had a surprisingly upbeat recovery, with only two further admissions to hospital (both for short periods of time). All of the possible diseases and disorders that Sean could have developed never eventuated – they cruised to Day +100 and cautiously stepped out of isolation, and they were able to wean Sean off the medications earlier than expected, and by September 2012, the final piece of hardware (Sean’s central line) was removed.

Sean now meets with the Sydney Children’s Hospital Immunology Team once a year in November for Sean’s annual check up. 

Today Sean lives a very active life. He swims competitively and attends swimming meets at every available opportunity. His favourite stroke is the breaststroke and he has been steadily improving his time over 50m over the past 18 months since he started competing. Sean is a scout with the 1st Kellyville Scout Group and loves to go on all of the adventures and camps with the scouts troop. He is a keen bike rider, and most afternoons after school, he can be found riding his bicycle around the neighbourhood. To balance out the outdoor activities, he loves to read and play online games with his friends. His favourite subjects at school are Maths and Science, and he enjoys Robotics and Coding as well.

Whilst Sean’s parents are still scarred from his lack of appetite as a baby, there is no stopping Sean with food these days. Their growing young man can put away an adult portion at every meal – he loves his meats and vegetables and fruit equally and has a well-balanced diet. His favourite drink is water  but he does enjoy the occasional lemonade or Fanta.

Sean is a laid back, happy-go-lucky kind of kid. He is well liked by his peers, teachers, coaches and Scout Leaders. He was elected to the Student Representative Council on several occasions and was elected as House Captain and takes his role as a School Leader very seriously. Sean’s proud accountability saw him selected firstly as an Assistant Patrol Leader of his Cub pack before a promotion to Patrol Leader. A major achievement for him was the completion of the Grey Wolf, which is the highest award you can earn in the Cub Scout Section. This achievement was even more remarkable, given all of the COVID restrictions over the past two years, limiting the activities that Sean would otherwise have been able to participate in.

In 2014, Sean’s mum, Gloria was approached by Franca Rodilosso, the then President of the Balmain chapter of Inner Wheel Club of Australia (IWA), to speak at their Cord Blood Research Fundraising Luncheon. Raising awareness and funds for cord blood research is IWA’s National Project, and she is are very proud to have been part of the IWA family and their National Project since 2014. She was a keynote speaker at the IWA’s national conference in 2016 and Sean’s gorgeous little face has featured on the promotional materials for the IWA’s National Project for many years. 

In 2020, Sean’s parents were approached by Dallice Robins, IWA’s National Project Coordinator, who was planning a campaign to get more people involved with fundraising. Dallice’s proposal was Sean’s Two For Ten, which saw participants walk 2km and donate $10 to the campaign. Participants were encouraged to find sponsors to donate $10 towards their 2km walks, with the walks to be completed during a period of weeks early in 2021. Sean was thrilled to be asked to be the face of the campaign, as he is keen to raise awareness for cord blood research which will benefit others and save their lives, just like his life was saved. This year, Sean planned an event with his Cubs pack, and led a group of 20 Cubs and adults on a 4km walk through the Bushland Corridors in Rouse Hill.

Sean’s parents are excited by the recent news that SCID be included in routine newborn blood screening tests nationally. They welcome the opportunity for newborns to be screened for SCID, as early diagnosis of SCID is imperative and will prevent infections that could cause complications, or worse, become life threatening. SCID is already part of the core Recommended Uniform Screening Panel in the United States since 2010, and the UK commenced an evaluation of screening for SCID in September 2021. They were very happy with the news in July 2022 that babies born in NSW and ACT were being offered tests for both SCID and Spinal Muscular Atrophy, and fully support these tests being offered to all babies born in Australia.

If Sean had been tested and diagnosed with SCID as a newborn, their first year with Sean would have been vastly different.  As a first time mother, Gloria spent 2011 feeling like she was failing her child each time he fell ill and she couldn’t help him recover quickly, as each illness generally took weeks to dissipate. At the same time, she found her voice in advocating for her child – each time a doctor or a specialist or a medical professional sent me away with dismissive waves of their hands, she learned to speak louder and to seek further opinions. Sean’s parents never gave up on their child, and they’re glad they continued to speak up and advocate for Sean and his health.

Published: September 2022.