‘Bubble Boy’ Hugo D’Arcy saved by new blood test and bone marrow transplant

A pilot test for Severe Compromised Immune Deficiency picked up that newborn Hugo D’Arcy had no immune system, with the early diagnosis — and bone marrow from his brother — saving his life.

At birth, Hugo D’Arcy was found to have Severe Compromised Immune Deficiency. If it had not been picked up, Hugo would have died.

It’s the best Mother’s Day gift Nikki-Lea D’Arcy could wish for – to finally get to hold her now healthy baby after he spent six months as a “bubble boy”.

Hugo would have faced certain death if his rare condition Severe Compromised Immune Deficiency, or SCID, was not picked up by a pilot blood-screening program.

“It meant he had no T cells, which meant he could not fight an infection or develop a response against an infection either and that meant he would die. Any child that doesn’t get treated, they die,” Mrs D’Arcy said.

The condition was made famous by David Vetter, who became known as the “bubble boy” in the USA.

Vetter was born in 1971 with SCI and survived for 12 years living in a germ-free plastic bubble.

David Vetter was the original ‘Bubble Boy’.

SCID can now be successfully treated with a bone-marrow transplant if picked up at birth before any infections can set in.

Hugo’s only chance of survival was a bone-marrow transplant and the perfect match donor was his three-year-old brother Ned.

Nikki-Lea D’Arcy with Hugo who now has a shot at a normal life. Picture: Areli Bosson

Andrew and Nikki-Lea D'Arcy with baby Hugo and brother Ned, 3. Picture Areli Bosson

“He is the donor. He gave his special bum bum medicine, that is what we called it,” Mrs D’Arcy said.

A native Queenslander, Mrs D’Arcy joked when she married her husband Andrew, a dairy farmer from Bega, that she was “marrying down” but she now knows that saved her son’s life.

“I am so very grateful that I did, it would not have been picked up in Queensland because they don’t screen for it, I was so, so lucky to be in NSW,” she said.

The Newborn Bloodspot Screening program in NSW added the pilot program to test for SCID in 2018. It is yet to be made permanent in the program.

The existing program, which involved a heel prick test on a newborn, tests for conditions such as phenylketonuria, an enzyme deficiency that leads to severe disability if untreated, hypothyroidism, cystic fibrosis, spinal muscular atrophy (SMA) and galactosaemia, which can both lead to death if untreated. In Queensland, the test for SCID and SMA is not included.

Hugo received his bone marrow donation from Ned aged just 12 weeks, after starting chemo at only 10 weeks of age.

“We were worried about Ned, bone marrow transplants are painful for the donor but Westmead (the Children’s Hospital) said trust us, he will be fine,” she said.

“Ned is an easygoing farm boy, he is very casual, so we joked about it being special bum bum medicine and he went in, he didn’t make any fuss about the needles.

“He is such a brave little boy and literally he was up and running around that afternoon (after the donation) and has not missed a beat since.”

Nikki-Lea D'Arcy and baby Hugo and his brother Ned, who donated his bone marrow, before the transplant.

But bone marrow transplants do come with risks.

“They told us there is a risk he could die with the transplant, but he will die without it, so the choice was definitely die, or take the chance on a bone-marrow transplant,” she said.

Now, at six months, Hugo is doing very well and can expect to lead a normal life.

“He is doing really well now. He now has a 98 per cent chance of survival. He is a very happy baby. We’ve spent five months of his life in hospital and now we are home,” Mrs D’Arcy said.

The Children’s Hospital Westmead paediatric immunologist Dr Melanie Wong, who treated Hugo, said two children in NSW a year are diagnosed with SCID and, before the pilot screening program started in 2018, those children would die.

“We advocated for early diagnosis of SCID because most children with SCID are completely well at birth and it’s only when they develop problem at two to four months that they could die of infections, which we saw quite commonly in the past,” Dr Wong said.

Hugo was born with a severely compromised immune system.

The bone marrow transplant will allow him to lead a normal life.

“Generally it is one in 40,000-50,000 births. In NSW we have about 100,000 births a year and we would see two children with SCID.

“Recently we have had several children with SCID who were picked up at birth and we could do the testing and start them on treatment that stops them getting sick and then preparing the curative treatment – bone-marrow transplantation.

“Without definitive treatment these kids almost universally die by the time they are two years of age. If we transplant them before they get sick they get through the bone marrow transplant without so many complications.

“If we get them early they should have the same lifespan as everyone else. If Hugo was born in Queensland at this moment, he would not have been picked up as having SCID.”

The D’Arcy family are ecstatic the transplant worked. From left: Nikki-Lea, baby Hugo, sister Georgia, brother Ned and dad Andrew. Picture: Areli Bosson

Dr Wong from the Australasian Society for Clinical Allergy and Immunology (ASCIA) has advocated for SCID to be added to the national screening program throughout the country.

Australia is behind other Western countries such as New Zealand, most of Europe and the USA, which screens for as many as 85 conditions. Australia screens for about 25.

Australia’s newborn screening programs are also run by the states and territories rather than a consistent nationally funded program, which means different states test for different diseases.

NSW tests for Spinal Muscular Atrophy (SMA) and SCID but Queensland does not and Victoria announced last week it will add them to it’s program. Both conditions can be successfully treated if caught early but lead to death or catastrophic disability if treatment is delayed.

Better Access Australia has campaigned for the Newborn bloodspot screening program to expand nationally so all Australia’s babies have access to early screening and diagnosis of rare diseases in step with other countries.

“In 2023 a baby born in on the Gold Coast will still miss out on a diagnosis for SMA and SCID, and yet just one kilometre away, a baby born in Tweed Heads will have access to diagnosis and treatment immediately,” Felicity McNeill from BAA said.

Labor has announced it will expand the newborn bloodspot screening program if it wins the election.

Originally published as ‘Bubble Boy’ Hugo D’Arcy saved by new blood test and bone marrow transplant