Elaine's fight against seizures

Elaine Joost cuddles her 8-year-old daughter, Emily, in the sunroom of the family's home.
She smiles at her daughter, chats with her, hugs her and doesn't complain when Emily can't decide whether she wants to stand or sit.

Emily doesn't engage in the conversation verbally with her mother, but her blue eyes smile, and the corners of her lips turn upwards when Elaine or the girl's father, Lyndon, talk to her and compliment her. She seems to enjoy company.

Emily has Aicardi syndrome, a genetic disorder so rare that only 500 people worldwide have been diagnosed with it. That makes Emily one in about 13.6 million people.

Emily was diagnosed with Aicardi syndrome when she was 3 months old.

"It was very difficult for me, especially that first year," Elaine said. "In the beginning, it was always, 'Am I going to be strong enough? Can I do this?'"

While she is developmentally delayed and is unable to walk, talk or feed herself, Emily is a very happy girl.

And that's really all that matters to Elaine and Lyndon.

"There are a lot of things she can't do herself," Lyndon said. "We feed her and she'll drink through a straw, if she wants to. Sometimes she doesn't want to. But she smiles a lot, she's happy. And when she starts giggling you can't help but laugh with her. She has this happiness around her that you can't help but get caught up in."

Elaine is often surprised by how people respond and react to Emily. She recalled a big, burly biker in black leather walking up to the family and squatting down to talk to Emily. The man told Emily how special she was and how much Jesus loved her. It was a moment of many that touch their lives regularly.

"She's brought a really interesting richness to our lives," Elaine said, pulling Emily into her lap and tucking her child's head beneath her chin. "People will approach her and talk to her and offer prayers for her. But what would she get? To walk and talk? To eat by herself? She'd have those things, but she wouldn't be Emily any more. She wouldn't be this same, wonderful child. She's the happiest person I know. Why would I wish all the worries that 'normal' people have on her?"
Emily can make noises to show her pleasure or displeasure with the world around her, but she can't form words. She might not talk with her own voice, but that doesn't stop the Joost family from helping her out a bit.

"Oh, she talks all the time, with our voices," Lyndon said with a laugh as he reached over to push an unruly wisp of hair from his daughter's eyes. "It's really rather funny at times, especially when we start picking on each other how we think Emily would. But there is probably nothing better than just snuggling with her. Just getting her into your arms and snuggling with her is so wonderful."

Aicardi syndrome was first identified in 1965 and typically affects only girls. It is marked by the absence of the corpus callosum, a bundle of nerves sitting between the right and left sides of the brain that allow the two halves to communicate. There is no cure, and information and research about the syndrome is limited.

Babies develop infantile seizures which follow them through their lives. Emily has, on average, around four seizures a day, with seizure medication and an implant that is supposed to help control her seizures. She has been on nine different seizure medications in an attempt to control them.
The seizures aren't grand mal seizures typically associated with epilepsy; they are more like spasms that Emily can't control. Sometimes the spasms last as long as 45 minutes.

The Joost family day can start around 3 a.m. with a seizure. Emily's seizures usually happen in the morning, but sometime she'll have an afternoon seizure.

"If someone had told me nine years ago that seizures would become an everyday part of my life, I wouldn't have believed them," Elaine said. "The seizures are definitely the biggest thing for us."
When Emily was born, an estimated 30 percent of the girls died before their third birthday and about 60 percent died before their 10th birthday. Now about 40 percent of Aicardi-affected girls live to their 14th birthday, and some are even living into their 40s.

Emily received an iGallop as an early Christmas present last year and it's become one of the activities she looks forward to every day. The iGallop is a machine that simulates the movement of a horse at the walk, trot and gallop, paces that mimic the walking and running movement of a human and strengthens a user's core strength.

Emily's iGallop has been dubbed Checkers.

"A lot of parents at the Aicardi conferences talk about their daughters doing the riding therapy," Elaine said. "So, I started researching and we heard about the iGallop. As soon as we put her up there, she straightened right up. Her therapist has even noticed a difference in her core muscles. Her standing has gotten better with assistance. She is definitely stronger at the hips. And she loves it."

Some days can be hard, especially when Emily's seizures are more numerous than usual, or she isn't feeling well and can't tell her parents where it hurts.

"It's like having an infant all the time," Elaine said. "In the middle of the night when you've been up with her for the past seven nights, sometimes it's, 'Who's going to get up with her this time?' It can be exhausting."

Emily loves music and concerts, and the family takes her to as many as possible. She loves Slinkies, balloons, Jeopardy and Dancing with the Stars. Last weekend, the family took a trip to Giant City State Park in Southern Illinois and spent a day hiking, Emily making the trip up and down hills and through the woods in her wheelchair.

Elaine doesn't worry about the what-ifs. What if Emily was born without Aicardi syndrome? What if she could talk?

"If you dwell on the fact that you'll never hear her say 'I love you' or have a conversation with her, you'll just wear yourself out," Elaine said. "I could push her more. I could make her do more things, but I don't because she's so happy and that's all that really matters, that she's happy.

"I feel really blessed, and lucky, to have her in my family and I've learned a lot from her. I've learned so much patience from Emily. We take things at a little slower pace, we enjoy things a little more. As it gets close to Mother's Day I start thinking about my mom and grandma and how much they would have loved to meet her."