For Sophia.. Our Warrior Princess

Hi my name is Natasha, myself & my partner Rob are raising fund to help further the research of Alpers-Huttenlocher. On the the 1st of June I will be running the women's mini marathon in Dublin as part of our effort to raise funds and will throughout the year aim to keep taking on challenges to continue raising more funds.

All funds raised will be donated to the Noah Jordan Foundation.

The Noah Jordan Foundation was setup by Ben, Natasha & Freddie after they too lost they're son to AHS. They're goal is to: To raise £100,000 (UK Sterling) in 12 months to fund a 3 year research fellowship (PHD) into Alpers Huttenlocher Syndrome under the guidance of Professor McFarland. https://www.tnjf.org.uk/

Our beautiful daughter Sophia was born Aug 21st 2024, within a few hours of her delivery. Her nurse noticed some issues - Sophia was rushed to the Neonatal Ward ICU - For days and weeks they ran every test they possibly could to figure out what was causing Sophia's issues. While they continued to investigate Sophia's issues they asserted us Sophia was stable enough to come home. We had two beautiful weeks of her home with us & we'll treasure these memories forever.

However, one night Sophia suffered a massive seizure (It was her first of many seizures). We rushed her the regional hospital in Limerick but here they were unable to control her seizure, they quickly acted & she was intubated and rushed to Temple Street Hospital in Dublin.

Finally a diagnoses was made, Sophia had a rare and incurable genetic disease caused by issues with the POLG gene leading to her diagnosis of Alpers Huttenlocher Syndrome (AHS).

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 diagnoses it was explained to us that in Ireland they have 1 new case between 18-2 years and that Sophia was the youngest case they're team had seen as she was displaying symptom's since birth. Typically the symptoms don't present until at least 6 months - 1 year.

Sophia was a fighter.

For 3 months and 2 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.

There is no cure for Alpers Huttenlocher Syndrome, the only treatment at the moment is symptom control until the affected passes.

In honour of Sophia, Noah and all those taken to soon we want to help Ben, Natasha & Freddie raise funds to support the 3 year research fellowship into Alpers Huttenlocher Syndrome. Please join us in this by donating and asking your family and friends to also donate.

We thank you for your support.

Natasha & Rob x