How genetic testing helped Albert fight a rare neonatal epilepsy

June 11, 2025

One-year-old Albert lives with Early Infantile Developmental and Epileptic Encephalopathy, EIDEE, a rare form of neonatal epilepsy. Thanks to advances in genetic testing by the Exeter Genomics Laboratory, Albert was able to obtain a precise diagnosis and a targeted treatment plan when he was just four weeks old.

Albert's mother, Louise Utton, shares her son's journey and the real-life impact of genetic testing in Albert's diagnosis.

The first few weeks of Albert's life 

Shortly after birth, Albert began having frequent, severe seizures. At just three days old, he was placed in a medically induced coma in paediatric intensive care. After a series of tests, his doctors turned to the Exeter Genomics Laboratory, suspecting a genetic cause. 

Albert was then diagnosed with Early Infantile Developmental and Epileptic Encephalopathy (EIDEE). Previously known as Ohtahara Syndrome, this rare disease causes frequent and drug-resistant seizures, which can lead to death or severe psychomotor impairments. 

At four weeks old, Albert went into status epilepticus, a severe incident of non-stop seizures, and did not respond to standard rescue medication. His mother, Louise, said: 

"By some miracle, the preliminary results of the genetic testing had been uploaded to Albert’s NHS records shortly beforehand, with associated guidance from his neurologist, which enabled the doctors to understand which drug would stop the episode of status epilepticus — it worked, and potentially saved Albert’s life." 

Albert's laboratory test results revealed his seizures were caused by a specific SCN2A gene mutation. This helped his doctors understand the exact type of medication he would positively respond to, and, after they administered a loading dose of the sodium channel blocker Phenytoin intravenously, Albert was stabilised. 

The importance of genetic testing

Without the knowledge of the exact gene causing Albert's seizures, his doctors would have had to blindly trial different medications and dosages in the hope of achieving seizure control in this typically complex and refractory disorder.  

To treat Albert on a longer-term basis, his neurologist used a sodium channel blocker called Carbamazepine, an anticonvulsant medication. Research shows that children with mutations in the SCN2A gene only tend to respond to it when its dosage is higher than the usual guidance by the British National Formulary (BNF). 

Since having Albert's genetic testing results, Louise shares that having an informed treatment path is a relief: 

"We feel extremely lucky as a family to have been able to access such specific and impactful results for Albert when he was only a few weeks old."  

Louise Utton: "Children like Albert have ever-changing epilepsy, with the effectiveness of medicines waxing and waning over time as his condition evolves. But knowing the exact genetic cause of Albert’s epilepsy means that should his current medications falter, we have a number of other medicines with the same mechanism on the sodium channel, which could also possibly help. Knowing there is an informed treatment path to follow gives us much comfort." 

Albert’s neurologist, Dr Rachel Kneen of Alder Hey Children’s Hospital, was delighted to receive the detailed genetic results from Exeter Genomics Laboratory to inform Albert’s current and future care. She has been able to consult world experts in Albert’s genetic mutation to ensure that he receives the best treatment options available. She said: 

"I remember meeting Albert and his family on our Intensive Care in the newborn period and realising he was very likely to have a type of genetic epilepsy from his clinical features. In the last couple of years, we have been able to undertake rapid whole genome testing for unwell babies and children and get results very quickly. The results can help directly with patient management by guiding medication choices or in some cases, allowing specific treatments. This is a huge improvement to even a few years ago. Our understanding of genetics is going through a revolution and will no doubt hold important answers for many children in the future. Albert is doing so well and it is lovely to see him thriving." 

Hope for the future

Albert's family recently celebrated his first birthday, a milestone they were warned he may never reach. He can hold up his head for short periods of time, roll over, and has made significant progress, thanks to neuro-rehabilitation therapy.  

With the recent addition of a ketogenic diet, Albert has started to show interest and engagement in the world around him. He now plays and laughs with his older sister or gets excited about what he is eating. 

Louise shares that there are certainly further advances to be made in the area of genetic testing for rare diseases, particularly for children who have not been fortunate enough to receive a targeted genetic diagnosis, and for children, like Albert, who have a diagnosis but unfortunately no cure.  

Louise refers to the work of ex-prime minister and chair of the Oxford-Harrington Rare Disease Centre Advisory Council, David Cameron, who launched the 100,000 Genomes Project in 2012, where the genomes of 100,000 NHS patients with a rare disease or cancer were sequenced. Last year, David Cameron was appointed Chair of the Advisory Council for the Oxford-Harrington Rare Disease Centre, which is seeking within a decade to deliver life-changing therapies for 40 diseases.

Now, at 18 months old, Albert continues to defy expectations. Although he does not have full control of his seizures, he is in a place they never imagined he could reach when they first received his diagnosis. Louise says: 

“Without a cure for his condition, Albert will continue to face many challenges, but seeing him smile and play, in his own unique way, is a dream come true for our family.”