Case study

Eddie is a seven year old boy who has managed to accumulate quite an extensive list of diagnoses, some helpful, some not, and all likely linked to his underlying COL4A2 genetic mutation.

Eddie had a, or several, cerebral infarctions whilst still in utero, resulting in both a large porencephalic cyst that replaces the bulk of the left thalamus (in turn impacting the basal ganglia), and there are also linear foci of gliosis throughout the brain. In terms of what these words actually mean for Eddie, his brilliant paediatrician explained it using the example of a spaghetti junction. If there’s an accident or obstruction on one road the effects are widely felt, resulting in traffic jams and all kinds of related chaos. And so over the first years of his life Eddie received diagnosis after diagnosis; cortical visual impairment (certified blind), right hemiplegia (now changed to cerebral palsy affecting all four limbs), infantile spasms leading to severe, intractable epilepsy, and a global developmental delay which has now been re-assessed as a profound learning disability. Eddie is nonverbal, not independently mobile, has hundreds of seizures daily and needs to be with an adult at all times to ensure he is safe.

Eddie is under the care of multiple different doctors, departments and indeed hospitals, each monitoring and managing a specific diagnosis. When we talk about Eddie we rarely say that he has Gould Syndrome, or a COL4A2 mutation, but we do often explain how his epilepsy has, and continues to have a catastrophic impact on him. Because as Dr Gould explains in his work, ‘the syndrome is really the clinical manifestations and how the patient presents.’ But as his parents we hope that one day he might have access to a centre of excellence where each specialist team can review him over the course of one day, rather than countless appointments scattered throughout the year at various hospitals. A place where his clinical teams can view his needs holistically, with the broader understanding of how his underlying genetic mutation may affect him over the course of his life. Will he have another stroke? Like all parents we would like answers, we would like to know more, to understand more.

But none of that really tells you who he is. Because he is of course just himself. Irrepressible, loud, vibrant, engaging, opinionated, wild and very loving. An utterly beautiful, and often very cheeky little boy who likes nothing more than a cuddle. Or better still a fight with his dad and big brother! Life isn’t always easy for him, but overall he is thriving, and happy.

And that, that is Eddie.