When little Ruby Smith was born, her mother noticed that she was holding her breath, but attributed this strange behavior to the wind or ebb.
At just four days old, Ruby didn’t want to feed but was holding her breath – her mother Claire Parsons noticing her daughter was turning blue.
Claire, who lives in Bedford, said she took Ruby to A&E suspecting her little girl was suffering from stomach pain.
The mom of five shared how, when she arrived at the hospital with Ruby, a doctor saw the newborn baby hold his breath.
She was sent straight to the neonatal intensive care unit and on her first night in the hospital, Ruby had a seizure.
Doctors performed an MRI as they were unsure of the cause of the seizure, but the results were good and Ruby was sent home.
Speaking to The Mirror, Claire says that was when it all “snowballed,” as Ruby then started having these episodes every week.
She said: “The following year we were hospitalized and released from the hospital, but they didn’t know what these seizures were.
“We weren’t sure if we could manage her at home because of the relief medication for her seizures. Sometimes we were hospitalized three or four times a week. During the first 18 months of his life, we spent more time in A&E than at home.
After months of trying to figure out what was wrong with Ruby, the doctors ordered genetic testing.
The results led to Ruby being diagnosed with alternating infantile hemiplegia (AHC).
It is a neurological disease that can cause developmental problems, cognitive impairment, and seizures.
People with different mutations of the disease can have different symptoms and it is difficult to understand how the disease can progress.
Claire says Ruby is the only person known to have the mutation she has.
Despite the stress of Ruby having a unique condition, Claire said it was good to know “what we were dealing with”.
She said, “There’s no one else to compare her to. She’s one in a million.
Ruby is now six and a half years old and still has seizures throughout the day and sometimes has paralysis in her arm.
Claire also explained that Ruby also suffers from a movement disorder, ataxia, which means her walking is wobbly.
She also lives with epilepsy and is on the autism spectrum.
Ruby is also at risk for SUDEP, sudden unexpected death from epilepsy, and Claire says that every seizure she has causes damage to her body.
Claire says she never dies and refers to an illness documentary called Human Time Bombs.