Esmé Ashton’s Battle with SCN8A Mutation: A Journey of Hope and Determination

05 Jun 2024

Esmé Ashton’s Journey: Battling SCN8A Mutation with Love and Determination

Despite the many curveballs thrown her way by an extremely rare genetic condition, three-year-old Esmé Ashton’s love of life knows no bounds. Living at home in Dorset with mum Carly and older brother Arthur, Esmé loves people, cuddles, and peekaboo, not to mention her favorite snacks of fish and curry!

Early Signs and Diagnosis

The first sign that something was amiss was when Esmé began having seizures at around six months old. Despite reassurances that it was nothing serious, Carly trusted her instincts and took her to A&E, where epilepsy was diagnosed. Powerful medications were prescribed, but they came with severe side effects, including body swelling, loss of smile, and reduced responsiveness.

SCN8A Mutation: A Rare Genetic Condition

After a very challenging couple of years, Esmé was eventually diagnosed with SCN8A mutation, a rare genetic condition affecting only 850 children worldwide. This mutation impacts the sodium channels in the brain, leading to overactivity and presenting as epilepsy with associated neurodevelopmental differences. Unfortunately, there is no specific treatment or targeted therapy for this condition.

Carly shared, “I’m not going to lie, complex epilepsy is horrific. It’s not just about the seizures either. The things I have had to witness since she got sick at six months old have changed me as a person in more ways than one.”

Treatment Trials and Discoveries

The family first tried traditional medications, but these all came with severe side effects. However, when Esmé started on a ketogenic diet, they saw a significant reduction in the length of her seizures. Despite this improvement, Esmé was still experiencing 10+ seizures a day. Carly fought for her to be put on the only cannabis-based medication available for children on the NHS.

“When she got it, it brought a spark back into her little warrior’s eyes and allowed her to reduce the other medications that had left her unable to sit up, smile, or even notice the world around her,” Carly recalled. However, as a basic, early-generation medication, the benefits were temporary, and Esmé’s epilepsy fought back.

Accessing Advanced Cannabis Medication

Determined not to be beaten, Carly began attempting to access more advanced cannabis medication, not available on the NHS despite being legal and approved by NICE. Carly began working with MedCan Family Foundation, a patient organization advocating for families with complex neurological disorders. With their support, Carly obtained a private prescription for Esmé, and the benefits have been incredible.

“Pre-cannabis, Esmé was sedated on anti-epileptic drugs (AEDs) to the point she didn’t make much eye contact, couldn’t laugh, or show emotion. She was on over seven high-dose meds four times a day at one point. She is now on only two regular AEDs at a small dose, and one is only at night,” Carly explained. It is clear that Esmé has made great improvements and now presents usual traits of a cheeky 3-year-old. “Nowadays, she is a little madam! She will shout at me if she’s bored, hungry, or not feeding her quickly enough!”

Fundraising for Esmé's Future

Determined that Esmé would continue on this drug, Carly’s fundraising journey began with a target of £20,000 to cover her prescriptions (costing £800 per month), as well as specialist physiotherapy and various equipment to help her live life to the fullest.

Starting in October 2023, Esmé’s fundraising has gone from strength to strength, raising an amazing £13,000 in just a few months. Carly shared advice for other parents needing to fundraise for their child, saying, “I have been absolutely bowled over by the kindness of strangers; it really restores your faith in humanity. Please believe that anything is possible. People will amaze you with their generosity.”

Support from Tree of Hope

Tree of Hope provides families with registered charity status, meaning they can reach their target figure more quickly and efficiently. Carly explained, “The benefits of fundraising with Tree of Hope have been huge. If there is any advice I need, they’ve been really helpful. When I’ve run out of ideas, they provide lots of inspiration and a much-needed kick up the bum.” She continued, “It’s like having a couple of friends in high places on your fundraising team! I also really appreciate that Esmé’s funds are kept securely with Tree of Hope and are completely separate from my own finances.”

Follow Esmé’s Journey

To keep up with Esmé’s latest endeavors, please follow “Beautiful Esme’s Epilepsy Journey” on Facebook.