The story of Adam King’s short life is so unique that it will shortly feature in a BBC TV series, Incredible Medicine, where the focus is on far-reaching medical breakthroughs.
His story is one that will excite anyone with an interest in cutting-edge medical science.
It will also interest anyone engaged in the debate around termination of pregnancy for major fetal anomalies because of the choice his parents faced.
But what his parents most hope for as a result of their speaking out in this newspaper is that it will move those who run our maternity units to ensure every pregnant woman is able to access a 20-week fetal anomaly scan.
The story of Adam King’s survival begins in the rooms of Cork University Maternity Hospital (CUMH).
Fiona, Adam’s mother, was scheduled to undergo a 12-week dating scan but pushed the date out to 14 weeks due to work commitments.
This casual act had fortuitous consequences: The sonographer spotted that Adam’s legs were very short, a pick-up that may not have occurred had the scan been any earlier. Fiona was also fortunate that a senior sonographer conducted the scan.
“His legs were measuring at about 10 or 11 weeks so she asked me to come and see Keelin [O’Donoghue, specialist in fetal and maternal medicine at CUMH] at about 17 weeks,” Fiona says.
“When I went to see Keelin she did another scan and it was obvious to her that the legs weren’t growing at all.”
Fiona and David, her husband, were then presented with the first of many choices on their journey: Undergo amniocentesis, where a needle is used to extract amniotic fluid from the womb for the purpose of diagnosing certain genetic defects, or continue with the pregnancy and see how things panned out.
“I decided there and then that I wanted amniocentesis, I wanted the information, I felt it would give me some ease at that point,” Fiona says.
Despite rising concerns about their baby, Fiona and David refused to panic.
“When you are presented with an adversity like this, I think a lot of people realise that they have an inner strength that you never knew was there,” says Fiona.
“I think it would have been a different scenario if it was our first baby. With the first, you just anticipate things will be fine.
“And I think the fact that we already had three healthy children, we were thankful for that. Also, I was a little older — 28 with my first child and 34 with Adam — and maybe this time I had a little more wisdom and I think we just accepted it.”
The amniocentesis results started to filter in and Down syndrome was ruled out. Dr O’Donoghue continued scanning Fiona every two weeks and it became clear that one of Adam’s femurs was misshapen and all his limb bones were short.
“That was quite alarming because we knew then it wasn’t just a case of one of the legs being a little short and might catch up — it was becoming a bit more serious and a bit more sinister,” Fiona says.
The next round of testing was for achondroplasia, a term for a form of dwarfism, a diagnosis Fiona says she would have accepted if it meant they could rule out osteogenesis imperfecta (OI), a brittle bone condition which, in its most severe form, is not compatible with life.
Her prayers went unanswered. The results came back negative for achondroplasia and at 24 weeks, OI, a congenital bone disease that causes stunted growth and repeated painful fracturing, was diagnosed.
“The horrendous part of this was that OI diagnosed in utero is either Type 3, which is the form that Adam has — and it is the most severe form of OI that is compatible with life — or Type 2, which is generally fatal,” says Fiona.
“So for the whole pregnancy, right up to point where Adam emerged, we didn’t know if it would be Type 2 or Type 3 and if our baby would survive.”
At this stage, there are options a couple can look at. But the only option the Kings were interested in was to give their son the best chance at life.
On the day the diagnosis was made, Keelin told them about a treatment available at the Karolinska Institute (KI) in Stockholm, then one of Europe’s most highly ranked research institutions.
It would mean injecting Adam, in utero, with bone-forming stem cells grown from fetal tissue donated by women undergoing termination of pregnancy.
The irony of this is not lost on the Kings. They understand why this could present some with a moral/ethical dilemma. But David is clear on where he stands.
“If you looked at it through the lens of the debate around Repeal the 8th, you could argue that this couple used aborted fetal cells and you could argue that we don’t, as a couple, have an issue with abortion,” he says.
“But you could also take the view that this couple, in the face of all adversity, and in the face of possible fatal fetal abnormality, well they chose life.
"The option of termination was openly discussed with us, albeit involving travel to another jurisdiction. But it wasn’t the option for us.
“So it’s a hard one to take but we are not on any side [of the abortion debate]. We are on our child’s side, we are on our family’s side and we are on our side.”
“This was something that was presented to us and this was the best decision we felt we were making for our child,” Fiona says.
The outcome was a journey to Stockholm in the hope of life-enhancing treatment for their unborn child at 28 weeks gestation.
Stem cells were infused via the umbilical cord, propelling Adam into medical textbooks: Only the third child in the world to avail of this treatment and the youngest gestational age.
David, a science teacher, currently seconded as National Team Leader for Science in the Junior Cycle for Teachers, explains that the stem cells infuse through the blood in the cord and migrate to the sites of fractures, engrafting onto the bone.
“It’s like putting a skin graft over healthy skin and it merges with it,” says David.
“In this case, it engrafts onto the bone and merges with it and starts to generate healthy bone. So the cells that Adam is deficient in, it puts those cells onto his bones and promotes healthy bone growth.”
Fiona explains that Adam had fractures all over his body in utero.
“Every time we did a scan his femurs were fracturing, his humeri [the bone that runs from shoulder to elbow], his ribs.”
“It’s not that he was breaking them constantly, they were growing fractured. His ribs were fanning out at the end which is a sign that. as they were growing, they were fracturing,” David says.
Understandably, Fiona found this very distressing.
“To see this fracturing every time on a scan and for nobody to be able to really tell you if the child is experiencing pain or discomfort or distress — that was hard to take.”
However, in the fortnight that followed the infusion, constant monitoring by Dr O’Donoghue indicated Adam had undergone a growth spurt in utero which his parents put down to the stem cell infusion.
When Adam was born, the placenta and cord were packaged and sent to Great Ormond St in London.
“Testing showed that none of those infused stem cells remained in the cord or the placenta which means they all went into Adam,” David says.
Previous cases of children who received a stem cell infusion to combat brittle bone disease indicate they were kept on a normal plain of growth with no fractures for four or five years, David says.
“But it’s not a case of done once, done for life,” he says.
He believes Adam will need further infusions as time goes on.
However, he believes his boy already has an advantage.
“They [the scientists] do think that the earlier the cells engraft, the more pronounced the effect,” says David.
“And Adam’s gestational age at the time of infusion was the youngest ever so they hypothesise that the effect is most pronounced in him.”
The next step in Adam’s journey was to ensure everyone was prepared for the different scenarios that might emerge in the delivery suite.
The overriding concern as her pregnancy progressed was to prevent a vaginal delivery which could have caused serious damage to a baby with brittle bones.
“Keelin prepared us very well, all the relevant staff would be present, Adam would be going to the ICU in the neonatal unit and we knew he would be in hospital for a couple of weeks, maybe months,” says Fiona.
“She prepared us down to the teeny tiny points of what his limbs would look like when he was born.
“She also prepared us for the worst case scenario — if he didn’t survive. Or if he lived but was not responding well. And she talked to us about bringing family members in if time was short.
David says: “She said: ‘You need to prepare yourself for the fact that he may not cry when he is born because he might have breathing issues’.
“So the biggest relief was the moment he came out, he did actually cry, there was a big roar out of him and we realised he was actually OK.”
“I don’t think we were shocked by how he looked,” Fiona says.
“We were prepared for the bowed limbs and the swelling. But I suppose every parent is traumatised by how their child looks all tubed up. I don’t think anything could have prepared us for that.
"But in the end, he was only ventilated for about 36 hours and he was tube fed for 48, after which he managed to suck a bottle. So he thrived from the word go.”
At about four weeks, Adam was transferred to Temple St Children’s Hospital in Dublin under the care of Ciara McDonnell, endocrinologist, who still monitors his care. Here he received his first dose of Pamidronate, a drug used in the treatment of OI.
“It slows down the destructive part of the bone cycle and helps increase his bone density,” David says.
All in all, Adam had seven hospital admissions during his first 11 months.
Now, aged two, he receives his Pamidronate every three months “at the wonderful paediatric unit at Cork University Hospital”, Fiona says.
To date, Adam has defied all the odds. He has had falls. He fell out of his buggy onto concrete and he didn’t fracture. He fell out of his high chair and he didn’t fracture.
“He shouldn’t even be able to climb out of his high chair,” David says.
“He can climb up the back of the couch onto the windowsill.
“He has a lust for life and an energy that is amazing. He is fearless, a thrillseeker,” Fiona says. (I witnessed this the day that I visited their home near Killeagh, in East Cork).
“He really shouldn’t be this good, he can pull himself up, go up the stairs. I suppose it’s our attitude as well, we have three other children and our approach to parenting is organic. We don’t panic about things and we don’t wrap him up in cotton wool, and that has definitely benefited him.”
David says they were anticipating rodding surgery — to straighten his femurs and humeri — but so far, it hasn’t been indicated. They were advised he would be sitting at two and standing to walk at four but he’s already broken all the barriers.
His orthopaedic surgeon is amazed at his progress, David says. Fiona says regular physiotherapy and help from Enable Ireland has played a vital role. Both are adamant that their decision not to wrap their child in cotton wool has been extremely beneficial.
David says that, in the past kids, like Adam were traditionally referred to as ‘pillow babies’ because parents, terrified at the prospect of fractures, carried their infant children around on cushions and pillows.
He has read studies which indicate this can cause more harm than good — children developing muscular issues because of parents’ fear of letting them exercise.
And worse, psychological damage caused by lack of physical contact, with some children developing detachment disorders.
They acknowledge that some day, he will break a bone. They speak of how distressing it was for his siblings — Danny, 8, Katie, 5, and Robert, 4 — when he fell from the buggy and the high chair because they were so attuned to his condition, they were convinced he would die.
That fear has abated since he proved them wrong, but they remain fiercely protective.
Fiona and David know there is a long road ahead. Fiona is on leave from primary school teaching to care fulltime for her children.
David is hopeful that Adam will receive further stem cell infusions in the future not just to maintain but to improve his condition, but at the moment, the couple is not sure what lies ahead.
What they do know though is that his child was given a much better shot at life by virtue of excellent early scans at CUMH, including a fetal anomaly scan. They are forever indebted to Dr O’Donoghue, they say.
“If we hadn’t got that scan, two things would have happened: One, OI may never have been detected and Adam could have been born with upwards of 50 fractures,” says David.
“Fiona could have had a normal vaginal delivery — as she did with our other children — causing further damage. We know of a child who spent the first six months of his life in hospital with over 120 fractures.”
Fiona and David feel Adam represents a very positive outcome of the fetal anomaly scanning process.
“It’s not just the value of the scan and the fact that early pick-up will allow some parents avail of fetal therapy for certain conditions, but also the advocacy you receive from the consultants, how they empower you as a patient, how they prepare you, how they present you with choices. And that is the reason we wanted to tell our story,” Fiona says.
“The staff at CUH are amazing, especially Keelin. She has been a wonderful advocate for me as a mother and for our family. I believe the work she and her colleagues do is so valuable and recognised as such internationally.
“It saddens me as a mother that the brilliant healthcare professionals at CUMH can’t provide the service they aspire to provide to every pregnant woman.”