The parents of Sierra Keim are bracing to face medical fees of roughly $200,000 in an attempt to improve the quality of life for the six-month-old girl who suffers seizures on a frequent basis.
“It’s called Malignant Migrating Partial Epilepsy of Infancy (MMPEI) but she is mosaic for that so that means some of her genes are affected but not all of them,” explained Emily Keim, Sierra’s mother. “It’s something that they’ve never seen before it’s extremely rare.”
On December 8, 2017, Emily and Blayne Keim of Carstairs welcomed Sierra into the world. “It was the best day of our life,” recalled Emily. “I was so excited to meet her. She was a beautiful baby girl.”
While his wife rested post-delivery, Blayne was stunned by the strange behaviour of his daughter. “I thought I was picking her up wrong, being a new dad,” said Blayne. “You go to pick her up and all of a sudden she’s going rock hard and putting her arms all over the place and screaming. ‘What am I doing wrong?’ ‘I don’t understand this’.”
The couple was reassured that spastic jolts were common in newborns but, the following day, medical professionals confirmed Sierra was seizing. The newborn was transported to the Alberta Children’s Hospital where she spent nearly three week before being released once it appeared the seizures had subsided.
Sierra’s time in the Keim household in Carstairs was short lived as her seizures returned and she was readmitted to hospital. During Sierra’s second stint at the Alberta Children’s Hospital, a neurologist suspected that the infant may have MMPEI. Numerous blood tests over an extended period of time confirmed the diagnosis but Sierra was only the second confirmed case of being mosaic for the gene. The genetic mutation increases the complexity of addressing the condition and the prognosis is bleak.
“They say a life expectancy of 10 years,” said Emily. “It could be less, it could be more. They’re really not sure.”
On her worst days, the six-month-old can experience more than 100 seizures and both of her parents are on leave from their jobs to attend to her needs. Doctors have prescribed at least 10 different epilepsy medications for Sierra but there have been few successes.
The Keims are hoping the services of an American company can improve their outlook.
“It’s the company called Paranormix,” said Emily. “They’ll actually test her genes and try to find the most optimal medication to help lower her seizures to hopefully let her grow and let her be with us longer than expected.”
The testing of Sierra’s genes carries an estimated cost of between $50,000 and $200,000 but the Keims suspect, given the rarity of Sierra’s condition, they will face the higher end of the price scale and there are no guarantees that it will provide answers.
“It’s a tough call,’ said Blayne. “We could put this whole place (up), sell everything off just for the hope that maybe it might help her.”
The Kleims are awaiting confirmation from the government on coverage of the out-of-country testing but say time is of the essence. “Each day that goes by you’re wasting the time that you could find something,” said Blayne. “Whether it gives her better quality of life for a little longer or maybe treats her, you never know.”
“They say (testing) can take six months. The one cofounder, it took him six years to find something for his kid.”
A ‘Support for Sierra’ GoFundMe campaign has been created in an effort to raise $200,000 for the family.
With files from CTV's Chris Epp
