ONE FOR MADDIE
One-year-old child suffering from rare gene mutation
Maddie Jackson has spent half her lifetime in hospital due to a rare gene mutation that causes seizures and pain.
BIBLE HILL. N.S. – Maddie Jackson has endured more pain and spent more time in hospital than most people will their entire lifetime. Maddie is one year old. The Bible Hill girl has a rare gene mutation that causes daily seizures and pain. It prevents her from crawling, holding her head up or eating.
“The hardest part is seeing her suffer,” said her father, Eric.
“She has good and bad days. On good days she’s the happiest little baby and she loves music and loves being held. She listens to classic rock with her grandpa.
“Bad days are really rough. She has big seizures that result in muscle soreness, and she has neuropathic pain, like phantom limb pain.”
In June, Eric and mom Brittany were at home, watching TV. Their daughter, about four months old, was next to them when they noticed her legs kicking repetitively. When it happened again the next morning, they took her to the hospital in Truro.
“They identified what was happening as seizures and sent her to the IWK for a brain MRI,” said Eric. “They found lobes for one part of the brain were in another area.”
Tests revealed Maddie has a rare mutation in the COL4A1 gene. She spent most of the summer in hospital, having dozens – sometimes hundreds - of seizures every day.
Maddie last returned home Jan. 31. Two days later she was readmitted to the IWK Health Centre in Halifax. She’s on morphine and anti-epileptic medication. Other drugs are being tried, in hopes of controlling the seizures. Because she can’t swallow food, a tube was installed in her stomach to provide her with a special formula. “It’s a waiting game for now,” said Eric. “Her future is an open question, from normal to being severely disabled. The seizures are a major obstacle to her development right now.”
What caused the gene mutation isn’t known. Eric and Brittany were told there’s no reason to believe circumstances would be similar if they had another child. Support of their family, friends, church and community, Eric says, has made it posrussia. sible for them to deal with the situation. They even received one card of support from “We’ll never give up on this this little little girl,” girl,” he he added. added. “She’s still got a great chance with the right breakthrough, and we’re just hoping that comes soon.”