‘The unluckiest people’: Limerick parents’ loss sparks push for rare disease research

“THEY can't believe that myself and Rob both had the same gene affected and for us to meet each other - that we are the unluckiest people for that to happen.”

These are the words of Natasha Field, the mother of Sophia who passed away last November, aged just three months old, after being diagnosed with a rare, incurable disease, Alpers Huttenlocher Syndrome.

Sophia was born in Limerick but her parents Natasha Field and Westbury native Rob Moloney made the decision to move to Dublin as Sophia needed to be treated at Temple Street Children's Hospital. “We made a decision to close Rob's business and move in with my family in Dublin,” said Natasha. Rob works as a personal trainer and formerly operated Rob Molo Rehab on Michael St in the city centre.

The team in Temple Street informed Natasha and Rob of Sophia's tragic diagnosis. Due to a mutation in Natasha's POLG gene and Rob's POLG gene, Sophia received both genes which manifested in the rare, incurable disease.

READ MORE: Much-needed piece of equipment donated to Milford Care Centre

“She was the youngest case they have seen so far in Ireland and they only get cases every few years in Ireland. The next blow was that in every future pregnancy we have a one in four chance of it happening again,” explained Natasha. “She was displaying symptoms since birth. Typically the symptoms don't present until at least six months to one year.”

Natasha and Rob have set up a GoFundMe to raise funds to help further the research of Alpers Huttenlocher Syndrome and have raised over €17,000 to date for the Noah Jordan Foundation. On Sunday, June 1, Natasha will run the Vhi Women's Mini Marathon in Dublin as part of these efforts and will throughout the year aim to keep taking on challenges to continue fundraising.

Sophia was born in the University Maternity Hospital Limerick on August 21, 2024 but soon after was rushed to the ICU neonatal ward. Natasha said: “She stayed here for weeks while they ran test after test after test to try to figure out what was happening. They continued to run tests but assured us it was safe to bring her home as she was stable enough so she came home to us.”

Natasha added that they had “two beautiful weeks” with Sophia at home. “We'll treasure these memories forever.” Unfortunately, Sophia suffered a massive seizure at home one night and was rushed to A&E in University Hospital Limerick.

“A night we will never forget. Unfortunately, after hours of trying they explained to us they could not stop her seizures and explained she would need to be sedated and intubated to give her the best chance of survival and that the neurology and metabolic teams for children are in Dublin only,” added Natasha.

“When we arrived at Temple Street Hospital it was a waiting game to see if she would survive or not.” Sophia's condition progressed aggressively so she never made it home and Natasha and Rob lived with her in her room in Temple Street Children's Hospital 24/7 until she passed away on November 23, 2024.

Natasha said they decided to remain in Dublin following Sophia's passing. “Rob's father had passed away in Limerick two months before Sophia was born and we decided we just needed a fresh start while we tried to piece ourselves back together with the support of my family.”

Alpers Huttenlocher Syndrome is a mitochondrial disease that is part of a larger group of conditions collectively known as mitochondrial DNA depletion disorders. It is most often caused by mistakes in the DNA of the POLG gene and is part of a spectrum of POLG-related diseases. The three major clinical features associated with Alpers’ syndrome are severe epilepsy, loss of developmental skills and liver failure.

The Noah Jordan Foundation was founded by Ben Jordan and Daniel Macken after Ben's son Noah passed away after battling with AHS. Their goal is to raise £100,000 in 12 months to fund a three year research fellowship (PHD) into the incurable disease. To donate to the fundraiser click here.