Family Fundraises Millions for Experimental Treatment in US for Rare Childhood Condition
A British toddler with a rare neurological disorder faces life-threatening attacks, with his family seeking funds for experimental U.S. therapies.
Rupert Smith, a 15-month-old boy from Wales, is one of approximately 50 children in Britain diagnosed with Alternating Hemiplegia of Childhood (AHC), an ultra-rare neurological condition. AHC is characterized by unpredictable, potentially life-threatening attacks that can be triggered by everyday activities such as excitement, tiredness, or temperature changes. For Rupert's parents, Dave and Siobhan Smith, this means constant vigilance to prevent injuries or fatal episodes.
The family's journey began with observing Rupert's "abnormal" eye movements as a few weeks old, which doctors initially attributed to his age. These early signs progressed to seizure-like episodes and breathing difficulties, culminating in a life-threatening choking incident where Rupert turned blue and stopped breathing, requiring resuscitation. Following this event, a whole genome sequencing test led to Rupert's diagnosis of AHC on January 5th of this year.
AHC is caused by a gene mutation and can result in episodes of weakness or paralysis, affecting one or both sides of the body. While not typically life-shortening, the attacks carry a risk of serious complications. Currently, there are no approved treatments or cures for AHC in Britain, with care focused on managing symptoms. Rupert's condition is particularly challenging as even excitement can trigger an attack, preventing him from experiencing typical childhood joys.
"His top trigger is actually excitement, and that is the worst part of it for us because we can't allow him to become too happy," Mrs. Smith stated. "It's terrifying because it happens so, so quickly. One minute he's playing and the next minute he could stop breathing or he's having a life-threatening seizure or he's completely paralysed and can't move anything but his eyes."
Beyond the AHC episodes, Rupert faces global developmental delays, has very low muscle tone, and is unable to crawl or walk. He is currently learning to sit up independently and receives regular physiotherapy.
The family's hope lies in experimental therapies and clinical trials available in the United States. They have launched a crowdfunding campaign aiming to raise £1.5 million for Rupert's treatment, which they believe could suppress and control his AHC, offering him the best chance at a normal future. To date, they have raised over £380,000.
"There is a treatment and a cure being developed by Boston Children's Hospital and Harvard University in the USA, which is what we're fundraising for," Mrs. Smith explained. "It has had some really positive results, but will cost a fortune. They have been awarded a huge grant to push forward a cure for AHC... The treatment kills the bad genes. It is essentially a protein that attaches to the bad gene and stops it from working, so the good gene can carry on. This will then allow Rupert to develop the way he should, and minimise or stop the symptoms of AHC altogether." The treatment is anticipated to be ready next year.
Betsi Cadwaladr University Health Board, which oversees Wrexham Maelor Hospital, has expressed commitment to supporting families dealing with rare conditions. Interim chief operating officer Matt Powels praised Rupert's parents for raising awareness and stated the Trust's dedication to assisting families in partnership with other hospitals.
