Miracle mum Rebecca shares Cruz's story:

In 2023, I began my IVF journey full of hope, but unaware of the challenges that lay ahead. I went through round after round without success, each cycle more emotionally and physically draining than the last. It wasn’t until I decided to change fertility clinics that everything began to make sense. The new team discovered that I had endometriosis, a condition that had gone undiagnosed for far too long. I underwent a major six-hour surgery to treat it, which finally gave me a chance at conceiving.

After five IVF rounds, I received the news I had been praying for, I was pregnant. We were overjoyed and cautiously hopeful as we began to imagine life with our baby boy, Cruz.

At our 20-week anatomy scan, things took an unexpected turn. The ultrasound technician paused mid-scan and said he needed to get a colleague. Together, they continued measuring Cruz, then gently informed us they had some concerns. They suspected he had talipes, commonly known as club foot. We were sent to wait, anxiety growing by the minute, until two specialists took us into a private room. There, we were told that Cruz was measuring under the 1st percentile for size — a significant and alarming finding.

They suspected skeletal dysplasia, a condition affecting bone growth, and warned us it appeared to be severe. The next day, I met with a geneticist at the hospital. We went over the ultrasound in detail and dove into family history. I then underwent an amniocentesis — a needle was inserted through my abdomen into the amniotic sac to collect fluid for genetic testing. It was a nerve-wracking procedure that carried its own risks, including the potential for early rupture of membranes.

Then began the longest five weeks of our lives. We waited and hoped, fearing the unknown. When the results came back, we learned Cruz has an ultra-rare genetic condition called PHF5A — so rare that only nine other people in the world are known to have it. There is just one medical article on it, leaving us with little information and many unanswered questions about what the future might hold.

At 35 weeks and 5 days, I went into early labour. Cruz was breech, and things quickly spiralled. While undergoing an ultrasound, my contractions intensified rapidly. Suddenly, the technician called a code red. Within seconds, the room was filled with doctors and midwives — Cruz’s foot had emerged. I was rushed to the operating theatre for an emergency C-section, and an epidural was administered. But before my partner could even re-enter the room, Cruz’s body began to deliver breech. His head became stuck for seven minutes. Doctors had to push on my stomach to help deliver him.

When Cruz finally arrived, he wasn’t breathing. They began CPR immediately — those five minutes felt like a lifetime. Then, a glimmer of hope: Cruz responded. He was taken away to the NICU, where a breathing tube was placed to support him.

The following seven weeks were filled with tests, scans, and more uncertainty. Cruz underwent MRIs, ultrasounds, and X-rays. We learned he has two holes in his heart, which will need ongoing monitoring. He was born without ear canals and has moderate hearing loss. He also has small skin tags, which are part of his genetic condition.

Despite everything, Cruz is here. He’s strong, determined, and already showing us what a fighter he is. We have a long road ahead, filled with weekly appointments, medical check-ups, and unknowns. But we’re walking it together, one step at a time with Cruz leading the way.