Brenda Bartels cradles her beautiful wee girl Anya and kisses her porcelain cheeks. The two-and-a-half-year-old’s ice-blue eyes struggle to focus, but she is blissful in her mother’s arms. “This is my happy,” says Brenda.
An extremely rare metabolic condition has robbed the auburn-haired tot of the ability to talk, sit or feed on her own. And heartbreakingly, Brenda and her husband Sam, both 32, know their precious daughter is only an angel lent. Says Sam, “We try not to think too much about the future.”
Tragically, the path the Waikato couple are walking is one they have trod before. In March last year, their older daughter, Leah, passed away in their arms at home. She was two-and-a-half – the same age Anya is now.
Brenda and Sam spent Leah’s lifetime searching for answers, but a diagnosis didn’t arrive until eight months after her death.
The couple now know Leah’s condition was caused by the combination of a micro-deletion in Sam’s 20th chromosome and a mutation in the same region in Brenda’s genes. It has been diagnosed in only seven other children worldwide.
By the time they received this news, Sam and Brenda had already welcomed a second daughter, Anya, into the world. “Until then, we were told the risk of having another baby the same as Leah was one in a million,” recalls Sam.
When Anya was born, she looked strong and – unlike her sister – cried. Despite their fears, these promising signs gave the couple hope. But their wee girl soon struggled to feed and became floppy. And at just five months old, Anya had her first seizure. Tells Brenda, “I never thought it would happen again.”
While Anya’s health today is more stable than Leah’s was, many of the girls’ symptoms are identical. For instance, Anya turned two in February but still weighs a fragile 7.5kg. Says Sam, “People often ask us how we stay strong, but we do what we need to do.” Brenda adds,“It’s about giving Anya the best life we can.”
While Anya is in some ways stronger than her sister was, the Bartels know their time with her is precious.
When Leah was born, she never cried. “We thought she was the happiest baby,” says Sam.
Their tiny first-born wanted to sleep all day. She was also tongue- thrusting, floppy and struggling to feed. Doctors ran a battery of tests on the tot, including X-rays, blood tests, MRI scans, lumbar punctures and a muscle biopsy. While medical staff suspected it was mitochondrial disease, nothing was conclusive.
Without the ability to suck, the only way to feed Leah was by painstakingly dripping expressed breast milk into her mouth, drop by drop. And at 12 weeks old, she turned blue and had to be rushed to hospital.
Then Leah began having “absence seizures” – periods of blank staring – that stopped her breathing. She was heavily sedated, put on oxygen and given a nasal feeding tube. Brenda recalls, “She was poked and prodded, but no-one could give us any answers.”
Doctors told the worried parents there was nothing that could be done for their baby. They were advised to take Leah home and enjoy the time they had left with her. Confesses Sam, “For two days afterwards, I felt like I was going to vomit.”
Over the next few months, the couple took their precious daughter to bed with them at night. They slept in shifts with little Leah lying between them. An alarm would sound if she stopped breathing.
The family of four made the most of every moment together.
“We were in survival mode,” says Sam. “We coped because we had no choice.” But despite the hardship, both Sam and Brenda say they had amazing support and consider members of a mitochondrial support network among their closest friends.
And Leah never ceased to give them great joy. Brenda tells, “When she was nine months old, she began to giggle. That was a great moment.”
For nearly a year, the Bartels were a family of four. And even though Brenda and Sam were by now aware that baby Anya would follow in her sister’s footsteps, there were precious times together. The summer before Leah passed away, the girls’ health was stable and the family was able to take a road trip down the East Cape. Sam tells, “That is a memory we will always treasure.”
When Leah passed away last year, she’d just returned home from a month-long stint at Waikato Hospital. The family was watching a movie together – Leah was on Brenda’s lap, while Anya was cuddling her dad. Says Brenda quietly, “I looked at Leah and she’d stopped breathing. I think she just wanted to pass away at home with all of us there.”
The couple would like their first-born to be remembered as a “chilled-out” little girl who was happy despite the odds. Daffodils in the garden of their rural property at Whatawhata and a wooden butterfly on the fence are daily reminders of Leah. Sam explains, “Butterflies symbolise beauty and freedom.”
One day, the couple hope to have more children. Armed with a diagnosis, they can now screen for the disorder. But in the meantime, they want to raise awareness of metabolic conditions as well as simply spend time with Anya. On good days, the tot enjoys trips out in her buggy and swimming in the family’s spa pool.
Although the grief of losing Leah was crippling, Brenda says Anya got her through it. “I still get up and care for her. She still needs her hugs. Since Leah passed, Anya has been my everything.”
