In 2021 Charlotte Dyer was looking forward to life with her second-born baby boy Ruben, completely unaware that he would be born with a rare genetic condition called GACI. Tragically, Ruben died at just three and a half months old, bringing untold pain to Charlotte and her family. Charlotte is passionate about the importance of raising awareness of rare conditions and believes in the great power of connecting RARE families. She is sharing Ruben’s story to support GACI Global in its quest to do this

By Geoff Case, digital editor

Generalised arterial calcification of infancy (GACI) is a rare genetic disease that primarily affects the circulatory system. GACI causes an abnormal build-up of calcium within the walls of the arteries. This can cause critical blockages which can reduce blood flow to organs which in turn can cause stroke, heart attack and death.¹

Ruben

Charlotte’s baby boy, Ruben, was born at 38 weeks in September 2021. Delivery went well, with the family having no concerns when they took him home to start their life as a complete family of four.

Unfortunately, things changed very quickly, and Ruben’s health declined three and a half weeks after birth. “He just wasn’t quite himself,” Charlotte says. “He was struggling with his breathing, pulling in under his ribs to get enough air into his lungs. The paramedics arrived and found his vital signs were normal, but they were worried about his breathing, so they took him to hospital.”

At the hospital, Ruben’s vital signs were still normal, which was reassuring; however, the doctors requested an x-ray to try and understand his laboured breathing. Then, unexpectedly, there was a flurry of activity and Ruben was taken to the resuscitation room. “There were around 12 healthcare professionals in the room, who managed to stabilise him, and they informed me of his enlarged heart.”

Once he had been taken into intensive care, Charlotte was told Ruben was very sick and would likely be in hospital for several months. Further test results showed that he had dilated cardiomyopathy (a disease of the heart muscle), which his doctors thought might be due to an infection. He responded well to his treatment and was discharged after 10 days, with a follow-up appointment scheduled for a month later. The test results raised no other health concerns, and Charlotte hoped that the worst was over.

But it wasn’t long before Ruben’s health deteriorated again. “He just went downhill very quickly,” Charlotte says. First, he had bronchiolitis (an acute viral illness) and then RSV (respiratory syncytial virus), for which he was admitted to hospital again. He was taken into intensive care but rallied quickly, and just 10 days later he was back home “in time for a lovely family Christmas”.

On New Year’s Eve, Ruben was alert but not quite himself through the day, struggling to settle. Charlotte’s intuition led her to believe that Ruben was falling ill again, and that evening he threw up unexpectedly, further fuelling her fears, as this followed a similar pattern to his earlier episode of bronchiolitis.

Worryingly, in the 20-minute journey to hospital, Ruben developed a rash all over his body, and when they arrived Ruben was initially treated for sepsis. “His body was just shutting down because his heart wasn’t functioning,” Charlotte says.

“They were trying to support him but everything was just closing down. They managed to get drugs into him, but then he went into cardiac arrest. They got him back after 20 minutes and we managed to get him into intensive care, but they said he was very sick and might not make the journey. We felt a little hope because the paediatric intensive care unit had saved him two times before—if you didn’t have help, you would fall into despair.”

Sadly, Ruben’s condition did not improve. “Early in the morning, Ruben had a further cardiac arrest and, again, was brought back. But then in the morning, at nine o’clock, it happened again.”

With Ruben having responded to the earlier interventions, the hospital believed the use of an ECMO machine was a viable option, and this gave Charlotte and her family a glimmer of hope in what felt like a desperate situation. (An ECMO is a form of life support for people with life-threatening illness or injury that affects the function of their heart or lungs.²)

Tragically, this last intervention could not save Ruben’s life. “You can’t be on ECMO for a long time—we always had a deadline,” Charlotte says. “He just didn’t improve as we’d hoped, so we had to say goodbye to our beautiful boy.”

Reflections

After Ruben’s death, trio exome sequencing results showed that he had a rare disease called GACI. “Ruben had presented in certain ways that aligned with GACI, with the high blood pressure and the cardiomyopathy, but they didn’t see deposits of calcium, which is a tell-tale sign. So it was missed,” Charlotte says.

Ruben’s doctors assured Charlotte that their course of action would have been the same if there had been a quicker diagnosis, but Charlotte questions whether they knew enough about the condition to be sure of that, and there are still many unanswered questions in her mind: Could the condition have been diagnosed more quickly—before birth, even? Could there have been conversations with national or international experts about treating him? Could there have been treatment options with investigational drugs?

After Ruben’s diagnosis, Charlotte connected with GACI Global, a patient advocacy group that supports families living with the challenges of GACI, and she recommends that other affected families reach out to the organisation for support and vital community connection. Charlotte is keen to point out that there is great variability within GACI, and the prognosis from individual to individual can look very different. Ruben’s older brother has been tested for the condition, so the family are now aware that while he does not have the condition, he does carry the gene.

Her son’s death was a traumatic experience, and his passing has left a big hole in her life, but Charlotte hopes that by sharing her experiences she can put GACI on the radar of HCPs and parents, so helping to ensure better outcomes in the future for babies born with GACI.

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