Anya Behl suffered her first episode of what would later be diagnosed as alternating hemiplegia of childhood (AHC) at ten weeks old in October 2017.
Those with the lifelong condition are described as “human timebombs” as the illness – which is like having seven diseases at once, including stroke-like paralysis and symptoms of Parkinson’s disease – can strike at anytime.
Her parents Abhishek and Katherine told how everything stopped and their lives changed after their daughter let out a “terrible scream” as her eyes started to flicker during her first episode of the condition.
The couple, who live in Edinburgh, rushed Anya – who by this time looked like she was having a stroke – to the city’s Royal Hospital for Sick Children.
Mrs Behl said they thought their daughter “was going to die” and that as a hospital doctor she knew what was going on medically – but as a mother she felt “helpless”.
After four months of tests and a belief that she was suffering from epilepsy, Mrs Behl, was told Anya had the ATP1A3 gene responsible for around 80 per cent of AHC cases after being tested for rare diseases.
Anya is one of only two children in Scotland with the condition and there are around 45 families in the UK living with it and only 500 worldwide.
Mrs Behl detailed the emotional toll her daughter’s condition has taken on the couple, with her husband quitting his job as a travel consultant to look after Anya on a full time basis.
She said: “We just have to live truly in the moment and enjoy a good hour or good day or even enjoy her being able to eat breakfast without paralysis or distress rather than think of the whole picture.
“At first we used to get anxious waiting for the next episode to hit not knowing what might come but we realised it wasn’t sustainable to live like that.
“We are grateful for the moments she is well and her happy self and try not to focus on it changing in a second. “We know how fragile life can be.”
She added: “It doesn’t ever leave you, though, and it influences every single thing we do.
“We don’t leave home without her emergency medications. Our nappy bag includes her emergency meds and a paediatric face mask should we need to help support her airway if it affects her breathing.
“When she’s paralysed down one side, but not in her worst case, it’s heartbreaking to see her try to crawl when she can’t balance, unable to move one side or support herself.
“In 18 months at least one of us (my husband or I) have been with her 24/7 – except for one hour when my mum looked after her – constantly watching her as her condition can change in a second.”
The couple have launched an “Anya is a One in a Million” fundraising campaign on their JustGiving page which has raised more than £5,000 of a £25,000 target to help fund a pre-clinical, non-human trial to be conducted with the support of several AHC foundations in the US.
The trial is essential before ethical approval can be sought with a view to testing the gene therapy in humans.
Mrs Behl said: “Despite starting 2019 with Anya in and out of paralysis, distress and a host of neurological symptoms, we now have real hope for advancements in AHC research.”
The link to the JustGiving page for Anya is https://www.justgiving.com/fundraising/anyab