Our seven-month-old son, Rupert, is a beautiful, happy, smiley little boy who greets the world with nothing but love. He is completely unaware of the difficult journey that lies ahead of him. In just seven short months, he has already endured more than most people will face in a lifetime. Despite everything, he continues to smile, and that smile is what gives us the strength to keep fighting for him every single day.

From just a few weeks old, Rupert began experiencing seizure-like episodes, resulting in multiple hospital admissions and countless appointments. Alongside this, he has shown developmental concerns, including low muscle tone, meaning he struggles to lift his head. He is currently under the care of several specialist teams, including neurology, respiratory, physiotherapy, dietetics, and speech and language therapy.

Rupert has undergone extensive investigations, including lumbar punctures, EEGs, ECGs, MRI and CT scans. His care is being managed across both Wrexham Maelor Hospital and Alder Hey Children’s Hospital.

More recently, our worst fear became a reality when Rupert suffered a serious medical emergency in which he stopped breathing and required resuscitation. Following this terrifying event, genetic testing revealed that Rupert has an ultra-rare neurological condition called Alternating Hemiplegia of Childhood (AHC).

AHC is an extremely rare genetic disorder, affecting approximately 1 in 1 million children. It is often described by specialists as a “time bomb” due to its unpredictable and potentially life-threatening nature. It is characterised by unpredictable episodes of paralysis, seizures, abnormal movements, breathing difficulties, and developmental delay. AHC shares features with multiple neurological disorders, including stroke, cerebral palsy, epilepsy, Alzheimer’s, Parkinson’s, and autism.

There is currently no cure for AHC, and symptoms vary greatly in both frequency and severity. Episodes can be triggered by excitement, extreme heat or cold, fever, food, lighting changes, physical exertion, stress, and water exposure. These episodes can last minutes, hours, or even days, and may occur without warning. Importantly, AHC carries a significantly increased risk of serious medical emergencies and sudden death, particularly during severe episodes involving breathing or cardiac complications. At present, there remains enormous uncertainty surrounding Rupert’s future.

As a result of this diagnosis, Rupert will require ongoing investigations, close monitoring, and lifelong full time specialist care.

In addition to preparing for treatment abroad, it is vital that we are able to financially contribute to ongoing research into Alternating Hemiplegia of Childhood. Because AHC is so rare, research is severely underfunded and progresses far more slowly than for more common conditions. Without continued financial support, this research simply cannot advance at the pace required to save children’s lives.

Research for treatments for AHC are currently being developed in the United States. We need to be financially ready to act immediately, without hesitation, when opportunities arise. This will require multiple trips to the USA for specialist consultations, clinical trials, and treatment. Emerging therapies such as Antisense Oligonucleotide (ASO) therapy and genome editing show genuine promise and are likely to be life-saving, but they are also extremely expensive and not available through the NHS.

By fundraising now, we are not only preparing for Rupert’s future treatment, but also helping to accelerate research that could lead to a cure, not just for Rupert, but for all children affected by AHC worldwide. Time is critical. For children like Rupert, every day matters. Financial contributions allow researchers to move faster, begin trials sooner, and bring life-saving treatments closer to reality.

We are incredibly grateful to the NHS and the outstanding medical teams who have cared for Rupert. They have done absolutely everything possible to investigate his condition, stabilise him, and provide ongoing specialist support. However, due to the rarity and complexity of AHC, there is currently no curative treatment available within the NHS. Care is limited to managing symptoms and responding to medical emergencies as they arise. The only potential for a cure lies in ongoing research and clinical developments in the United States, which require significant private funding.

I have previously fundraised for various charities and good causes and never imagined I would find myself needing to ask for help. Fundraising is incredibly difficult, but we have no other option.

For ultra rare neurological conditions like AHC, emerging treatments and clinical trials are often extremely expensive, frequently running into millions of pounds. These costs include treatment itself, specialist consultations, international travel, accommodation, and medical care not covered by public funding.

We are fundraising now so that we are financially prepared to act immediately if and when treatment, trials, or life-saving interventions become accessible. For rare conditions like AHC, opportunities can arise suddenly, and delays can mean missed chances. Being prepared could make a critical difference to Rupert’s future.

If you are able to donate, any amount, no matter how small, would mean the world to us. If you’re unable to donate, please consider sharing Rupert’s story, as that is just as important and may help us reach someone who can.

Thank you from Rupert’s mummy, daddy, and his two big brothers, aged four and five, for taking the time to read his story and for any support you are able to give 🌈