Harry & James’ Story
Harry and James are (almost) 5-year-old identical twins from England. Their mom, Annaleigh, tells us that they are both resilient, happy young men. While they will have had symptoms of CACNA1A-related disorders for as long as they will always remember, both boys have always faced it with a positive attitude. They are fiercely independent and do not let their neurological state dictate their actions. Going through their rare disease journey together, they support each other without hesitation and do not let their speech barriers stop them from communicating, especially with each other.
Variant:
History
Harry and James' parents noticed early on that they were not meeting some developmental milestones. Annaleigh explains that by 15 months for James and 18 months for Harry, they knew their development was not typical. James was treated in the hospital for status epilepticus and had multiple admissions for suspected medication-resistant seizures. During this time, he underwent extensive testing for various metabolic disorders. Three months later, Harry began experiencing similar episodes. Their doctor suggested the family pursue whole genome sequencing since they are identical (MCDA) twins.
Both boys have undergone numerous diagnostic tests, including MRIs, CT scans, lumbar punctures, multiple EEGs, echocardiograms, ultrasounds, and genetic testing.
Harry and James share similar challenges. They have significant difficulties with speech, a limited understanding, and their walking and coordination are very clumsy. Although they are making progress, they remain significantly behind their peers without disabilities.
Today, both boys regularly experience hemiplegic migraines and have constant symptoms of ataxia, with frequent episodes of full ataxia and nystagmus. Their gait is unsteady, and they exhibit in-turned legs, low muscle tone, and hypertonia. Communication is a significant struggle for both boys. While they can speak, their speech is unclear, often leading to frustration when misunderstood. They are determined to be active 4-year-old boys, but their bodies' limitations frequently result in frequent falls.
Therapies/Education
Harry and James have benefited from speech and language therapy and recently started physiotherapy. They wear prescribed safety helmets and bespoke supportive boots to strengthen their ankles and improve their walking. The boys attend a specialist school designed for children with severe and profound learning disabilities.
Diagnoses
Episodic ataxia type 2
Hemiplegic migraine
Learning disability
Focal epilepsy (not confirmed)
The impact of a genetic diagnosis
Harry and James have a 6-year-old sister, Aurora, who has also been diagnosed with a CACNA1A variant. Aurora's symptoms are milder; she has a learning disability, infrequent episodes of ataxia, and milder but still significant speech difficulties. Two years ago, she suffered a single tonic-clonic seizure requiring hospital treatment.
Their father, who is 35, was diagnosed with the CACNA1A variant on the same day as the twins. His symptoms are so mild that he never suspected he had the condition. In his younger years, however, he experienced slight speech difficulties, easily fatigued during sports, and had alleged focal epilepsy, which was thought to have resolved. The varying severity of symptoms within their immediate family underscores the challenges of predicting the prognosis of this disorder.
For Those Newly Diagnosed
Annaleigh writes, “Take each day as it comes. There is a lot of scary and confusing information about the ataxia conditions online, and some professionals don't know much about them. It is important to focus on the individual with symptoms and manage this in a person-centric way rather than dwell on what the future might look like. Finding a prognosis can be difficult as each person struggles in various ways, and so I find it easier to document our own journey. Keeping tabs on symptoms in our home allows me to see any changes in the severity or frequency of symptoms.”
