Story

For Sophia, our warrior princes...

Our beautiful daughter Sophia was born on the 21st August 2024.

Within a few hours of her delivery, her nurse noticed that something wasn't quite right, and so Sophia was rushed to the Neonatal Ward Intensive Care Unit at Limerick Hospital. For days and weeks they ran every test they possibly could to figure out what was causing Sophia to be so unwell. While they continued to investigate what was wrong with Sophia, they told us that Sophia was stable enough to come home.

We had the two most beautiful weeks at home with her as a family. We will treasure those moments and memories forever.

However, one night Sophia suffered a massive seizure, sadly it was to be her first of many. We subsequently rushed her the regional hospital in Limerick but they were unable to control her seizures, so they informed us that she had to be intubated and rushed to Temple Street Hospital in Dublin.

It was here that finally a diagnoses was found. We were told the devastating news that Sophia had a rare and incurable mitochondrial disease called Alpers Huttenlocher Syndrome (AHS) caused by mutations within the POLG gene.

AHS 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. There are a number of other, extremely rare, genetic causes of Alpers’ syndrome. The three major clinical features associated with Alpers’ syndrome are severe epilepsy, loss of developmental skills (developmental regression) and liver failure.

Our mitochondria are essentially the battery of our cells. This meant that Sophia's mitochondria cells were not producing enough energy. The parts of the body commonly affected are those that have the highest energy demands, such as brain, muscle, liver, heart and kidney.

When given Sophia's diagnosis it was explained to us that in Ireland they have approximately one new case every eighteen months to two years and that Sophia was the youngest case their team had seen as she had displayed symptoms since birth. Typically symptoms don't present until a child is six months to a year in age.

Sophia was a fighter.

For three months and two days she fought hard. She absolutely amazed us all with her strength. In those final hours one of her doctors came to us and said he had never seen someone so tiny fight so hard. She really was a fighter.

Sophia passed away 23rd November in our arms surrounded by love. Her suffering had come to an end & she could finally rest in peace.

In Sophia’s memory, we are supporting the ‘The Noah Jordan Foundation’, a UK paediatric Mitochondrial disease charity, in hope of a brighter future for other children as part of her legacy.

'The Noah Jordan Foundation’ funds research with the aim of improving clinical management, developing treatments, and finding a cure for rare, terminal paediatric mitochondrial diseases, such as Alpers-Huttenlocher Syndrome.

The charity also raises awareness among the public and healthcare professionals through events and training and support affected families with information, services, resources, and financial aid.

Help us raise £100,000 to fund vital medical research towards treatments and a cure

As part of Sophia’s legacy we are supporting ‘the Noah Jordan Foundation’, to raise £100,000 to fund vital medical research into Alper's Huttenlocher Syndrome, the disease that took Sophia’s life for which there is currently no treatments or cure.

This crucial medical research will be facilitated through a three-year PHD research fellowship under the guidance of the charities medical advisors, the UK’s leading Professor of Paediatric Mitochondrial Medicine and director of the NHS Highly Specialised Services (HSS) for rare mitochondrial disorders, Professor Robert McFarland and Dr Laura Smith, a leading Neuroscientist with a special interest in Alper’s Syndrome. By supporting our campaign and donating in Sophia’s memory, you are helping us raise vital funds to undertake this crucial medical research, with their guidance, as soon as possible.

Thank you for supporting Sophia’s legacy in the hope that other children won't suffer as she did in the future.

Natasha & Rob x