Learning from Annalise

At three and a half months old, Annalise had her first seizure.

“We didn’t know what it was, so we took her to Riley,” said Annalise’s mom, Myriam.

The doctors at Riley Hospital for Children ordered a CT scan. While Myriam and her husband, Sean, were anxiously waiting on the results, Annalise had another seizure, confirmed by a doctor and nurse who were just outside the door when it happened. The next morning, Myriam and Sean learned that their newborn daughter had lissencephaly, a rare genetic condition in which the brain is smooth, rather than developing the folds and grooves characteristic of a healthy brain. As a result, Annalise has epileptic seizures, cortical visual impairment (in which the brain can’t process what the eyes see), and severe developmental delays.

“Once her seizures started, she was having them daily, up to 25 a day,” Myriam recalled.

A swallow study at the time also revealed Annalise was aspirating her formula, so the doctors put her on a nasogastric (NG) tube and limited her oral food intake.

“That sort of changed everything, as far as childcare. It was really scary in the beginning because we weren’t sure how we were going to navigate all this,” Myriam said.

Riley Hospital connected the family to CICOA, which helped them apply for the Medicaid Waiver program. 

“It’s been so incredible to have the financial assistance of Medicaid to pay for all the therapies she needs, to pay for all the medical equipment, the nursing care,” Myriam said.

Now two years old, Annalise has weekly speech therapy, occupational therapy, physical therapy, and bi-weekly vision therapy.

“Annalise is the strongest, hardest working two-year-old I know,” Myriam said.  “It’s tough on her, but she does it and she’s growing so much.”

Annalise gets in-home nursing care Monday through Friday, which allowed Myriam to go back to work fulltime as a lawyer with the Department of Child Services. Sean is a toolmaker. The family has respite care on Sundays, and CICOA’s Way2Go service provides transportation for Annalise and an attendant nurse to medical appointments throughout the week.

“We go to the appointments as well, but Way2Go is really helpful in getting Annalise and her nurse back home afterwards, so Sean and I can get back to work,” Myriam said.

Thankfully, Annalise is not spending as much time at the hospital these days. Her visits to Riley have dropped from several times a week to once every two or three weeks.

Annalise has two brothers: Elliot, a gifted four-year-old who dotes on her, sings to her and tells her stories; and the newcomer, Issac, who at four months old, is developmentally at the same level as his older sister.

“They are very curious about each other and try very hard to make contact, but we have to monitor it. Annalise is much stronger with her legs than her arms. That is how she turns on her adaptive toys and moves around. So if you put Issac too close to her, she will kick him, not to be mean, but that is how she tries to reach out to him. But in general she’s a really laid back kiddo.” 

Annalise recently got the okay to add soft, solid foods to her tube feedings. Her favorites? Sean likes to sneak her candy, Myriam reports. Annalise particularly loves cotton candy or little shavings of white chocolate to melt in her mouth.  Chocolate pudding is perhaps her favorite food, although she also enjoys baby puffs.

“We were told there is a broad range of abilities of children with lissencephaly. Some of them can walk and talk and feed themselves; some are on the other end of the spectrum and don’t progress beyond where Annalise is now. So we don’t focus on her prognosis at all. We let her show us what she can do and write her own story,” Myriam said. “This diagnosis has been very hard on the family and presented us with so many challenges. But we’ve learned a lot because of her—how strong we are, how to accept differences in other people, how to not stress over the little things, how to focus on the positive and celebrate every little success. She has made us better people just by being her parents. I wouldn’t change anything.”