Exeter family aiming to raise awareness of rare 'smooth brain' syndrome

Dealing with Lissencephaly An Exeter family is aiming to raise awareness for their daughter's rare 'smooth brain' syndrome. CTV London's Scott Miller reports.

Mackenzie is an inquisitive, loving four-year-old – but she has and will continue to have many limitations in life.

"She's not probably going to walk. She may never talk. She continues to grow, and she's getting heavier to lift to move around, but she doesn't sit up on her own. So, it can be really challenging from day to day," said her mother, Ashley Miller.

The Millers are one of only a handful of Ontario families dealing with Lissencephaly, also known as "smooth brain" syndrome. She was diagnosed at only 10 months old.

"She started having these weird episodes. They almost look like seizures. Then we ended up taking her to the Emergency Department because they started becoming more frequent, and [they lasted for] longer periods of time. We spent 13 hours in the Emergency Department and then they did an MRI, and that's how we found out," said Miller.

Mackenzie is non-verbal, she still has seizures, can't feed herself, and has a life expectancy of 10 years old. She needs constant care, which is what her family provides on a full-time basis.

"I had never heard of it. It's one in every 100,000 babies born in the US with this condition. We didn't know it can be found in ultrasounds. It was kind of missed in the ultrasound. Not that that would change anything. I would still have went through with it, but we would have probably been more prepared," said Miller.

Miller knows of only one other family in all of Ontario dealing with Lissencephaly, and they only found that family through their annual Awareness Carnival. September 8 marks the third Lissencephaly Awareness Day, hosted by the Millers in their hometown of Exeter. They split proceeds with London Health Sciences Centre, Children's Health Foundation. Last year they raised enough for a special tricycle for Mackenzie. This year, they're hoping to raise enough for ceiling track lifts for their home.

"We were told we would not be able to get a Personal Support Worker unless there were ceiling track lifts. It's their protocol, so it would just definitely help get her from her wheelchair into the bathtub and then out again - and same with her bedroom. So, we're thinking one in the bedroom, one in the bathroom," said Miller.

You can learn more about the Awareness Carnival here.

In the meantime, the Millers are soaking in every moment they have with Mackenzie. Her condition and symptoms can change so quickly, they enjoy the good days, as much as they can.