Searching for an answer

A few weeks after she was born, it became apparent to Emily’s husband, Sean, as well. Laura lacked eye contact, fell behind on her development milestones, and was having seizures — sometimes several each day.

After a year of ups and downs, Laura has recently been diagnosed with cyclin-dependent kinase-like 5, a rare X-chromosome-linked genetic disorder impacting mostly females.

According to the International Foundation for CDKL5 Research, most children affected by CDKL5 suffer from seizures that begin in the first few months of life. Most will never walk, talk or feed themselves. Several are confined to wheelchairs and dependent on others for everything. Many also suffer with scoliosis, visual impairment, sensory issues and various gastrointestinal difficulties.

Since CDKL5 was discovered in 2004, and is still new to doctors, the extent and cause of the genetic mutation is unknown. Laura is one of less than 200 cases worldwide.

Because of the rarity of the disorder, it was difficult for doctors to pinpoint what exactly was causing Laura’s delays and seizures during her first year of life. After countless doctor visits, the Ahrens call the diagnosis a relief — but getting there wasn’t easy.

The early stages

Laura Ahrens was born full term on July 3, 2009. She was welcomed into the world by her parents, Emily and Sean, and an older sister, Elly, who is 3. Emily is the business manager at Rainy River Community College and Sean is an electrician at the Abitibi Bowater paper mill in Fort Frances.

Emily recalls knowing almost instantly that something wasn’t quite right about her new baby girl. Her fears escalated when Laura started spasming.

“Laura was 3 weeks old when she first started having seizures,” Sean remembered. “We didn’t know what was happening.”

As Laura grew and got stronger, the seizures became more violent. Emily said they were very alarming and she could tell Laura was scared, too.

The Ahrens started seeking medical help and advice not long after the seizures began. Dr. Anthony Stone in the Falls thought what the couple was describing was acid reflux and referred them to a gastroenterologist who agreed with Stone.

However, after treating the acid reflux as instructed, they still had fears something more was wrong, so they sought further options.

Struggling for answers

When Laura was 6 months old, she saw a neurologist in Duluth and underwent a 36-hour monitoring period with an electroencephalography. The results came back normal and the neurologist concluded Laura had Sandifer syndrome, a more severe form of acid reflux with effects that look like seizures.

“Still, we were really seeing the developmental delay and an obvious lack of eye contact for a child her age,” Emily said. “It was easier to make excuses for the development delays due to the acid reflux positioning techniques, but the vision issue really worried me.”

After repeatedly being told by the pediatric ophthalmologist that Laura’s eyes were healthy and normal, Sean and Emily continued to have doubts. They finally took Laura to a vision specialist in the Twin Cities.

The doctor told Emily and Sean that Laura had healthy eyes, but the connection between them and her brain wasn’t right. The doctor suggested the Ahrens look into infantile spasms or autism. 

After a month in denial that something so serious could be wrong, Emily and Sean decided to seek more advice. They went back to consult with Stone and his nurse, Alicia Budris. They gave Emily and Sean advice and referred them to the Mayo Clinic in Rochester. 

Budris called the Mayo Clinic and expressed concern about Laura’s developmental delays. She was 8 months old and could hardly do things a 2-month-old could.

“We were anxious that we might actually be able to find out some answers,” Emily said.

Budris was told by the developmental team at Mayo that the Ahrens would have to wait about one year to be seen there. Erasing hopeful excitement, Emily grew more concerned over how far Laura would fall behind. 

“At this point, too, we were seeing five to 10 seizures a day,” Sean said. “We were feeling frustrated, helpless, and almost numb to the situation. We felt that every avenue we took was leading us nowhere.”

The Ahrens desperately turned to a friend who had family connections to a former doctor at Mayo. He was able to call in a few favors to former colleagues. Shortly after, Dr. Jay Homme contacted Sean.

“Dr. Homme called and asked what was going on with Laura,” Sean remembered. “I told him that it was ironic he called when he did because she was having a horrible seizure she wasn’t pulling out of.”

Homme didn’t waste time — he told Sean he’d see the family in the morning.

On the right track

Less than 48 hours after speaking with Homme, the Ahrens walked through the doors of the Mayo Clinic — and his team was waiting for them.

“The process was so fast,” Emily recalled. “We admitted her at 8 a.m. and found out she had infantile spasms three hours later.”

“We were told with this diagnosis, Laura would never be a normal child,” Sean said. “They kept telling us that she will be delayed and this could get worse. Eventually, though, we naively figured that she’d catch up on her developments.”

According to the National Institute of Neurological Disorders website, the prognosis for children with infantile spasms is dependent on the underlying causes of the seizures. The outcome is generally poor because many babies with infantile spasms have neurological impairment prior to the onset of spasms. Spasms usually resolve by mid-childhood, but more than half of the children with infantile spasms will develop other types of seizures as they grow older. 

The Mayo released Laura the same day of her diagnosis and the family was sent home confused, but a little reassured. 

Sean said, “As awful as this was, we were put at ease a bit because we knew what she had and it could possibly be treated.”

“We were finally on the right track,” Emily added.

Ups and downs

Back at home, Laura was put on prednisone, a medication used to treat the symptoms of low corticosteroid levels (lack of certain substances that are usually produced by the body and are needed for normal body functioning). She also had her weight, glucose and blood pressure monitored daily. 

“Prednisone is a nasty drug,” Sean said. “Laura would be up all hours of the night screaming and crying. Nothing would soothe her — we questioned if we were doing the right thing.”

The family returned to the Mayo two weeks after their first visit to learn that although the prednisone was working, Laura continued having hundreds of seizures in her sleep. 

“We were so happy it was working, but our spirits dropped as soon as we heard she was still having seizures,” Emily said. 

With no change a month later, Laura was put on Topamax — a drug used to control seizures. There was also an option to put her on a controversial drug called vigabatrin. Dr. Katherine Nickles, Laura’s pediatrician and neurologist, hoped vigabatrin would eliminate the seizures altogether.

“The drug is controversial because it can cause permanent retina damage if used longer than six months,” Emily said. “In Laura’s case, we knew she already had eyesight problems and the benefits of this drug outweighed the risks.”

On May 29, the night of Laura’s first dose of vigabatrin, she began a 39-day streak free of spasms.

“After so many days, we believed we were really getting somewhere — until July 9,” Emily said. “That day, after celebrating her first birthday, her seizures came back. We were sent right back down to the bottom. It was really hard.”

The family returned to Mayo shortly after July 9. During that visit, doctors speculated Laura may have cortical dysplasia. Cortical dysplasia is a malfunction in the brain that causes seizures. Emily and Sean were told that it could be removed by route of brain surgery when Laura was older. 

“Sean and I were worried about the extremity of the fix, but hopeful that someday this could all go away,” Emily said. 

The cause

On Aug. 3, cortical dysplasia was ruled out as the cause of Laura’s infantile spasms. Instead, doctors diagnosed Laura with CDKL5.

Earlier in the summer, Laura’s blood samples were tested and the results came back showing she had the genetic disorder. 

“When the doctor told us that she had CDKL5, we had no idea what it was,” Sean said. “We just stared at her with blank looks on our faces. We knew it must be bad because she sat down to tell us.”

Emily remembered Nickles telling the couple they would want to do their research on this rare condition. She said Laura would always be their responsibility.

Sean admitted that knowing the cause of Laura’s infantile spasms brought some relief. Throughout the entire process, he said that both he and Emily questioned if they did something that could have caused Laura’s delays and seizures. The diagnosis reassured them it was beyond their control.

Living with CDKL5

Juggling work and home life is a careful balance for both Emily and Sean. After Laura’s diagnosis, she began a strict therapy schedule. She sees therapists in the Falls three days a week and once a week in Canada. Each session lasts an hour and keeps the couple running back and forth from work. 

“Her therapists, Nancy Anderson and Jenn Windels, as well as Laura’s team of four therapists in Canada, are wonderful,” Emily said beaming. “Laura can roll from side to side and is almost sitting up on her own. She will start speech and vision therapy soon.”

The Ahrens also spend a week each month in Rochester for check-ups and monitoring.

“Both of our jobs are pretty understanding, but it gets tough sometimes,” Sean explained.

While both parents are at work, Emily said the girls have a wonderful daycare provider.

Feeding Laura takes a considerable chunk of time from everyday life. In a natural approach to help keep her spasms under control, Laura’s doctors have placed her on a ketogenic diet, a high-fat, adequate-protein, low-carbohydrate diet used primarily to treat difficult-to-control epilepsy in children. The diet mimics aspects of starvation by forcing the body to burn fats rather than carbohydrates, according to the Epilepsy Foundation Online.

Maintaining the diet is extremely difficult because everything is weighed to the gram, said Emily. The diet is 90 percent fat, 6 percent protein and 4 percent carbohydrates.

“Every day Emily spends about an hour mixing food for the next day for Laura,” Sean explained. “She also has to test Laura’s urine twice a day for ketone bodies.”

The diet is working right now — for the most part. 

If the percentage of grams become unbalanced, even the slightest bit, it can throw Laura off dramatically. This summer, the family spent a sunny afternoon at the Emo fair. Because the sunscreen they put on Laura had a small amount of carbohydrates in it, it threw her levels off for two days and sent her into spasms. 

Loving support

“Throughout this process, above all, our family, friends and co-workers have been so wonderful and so supportive,” said Emily through tears. “I don’t know how we would do this without them.”

She said most days, Laura makes it easy to stay positive — but some days are dark. 

“My dad helped me through those dark days. He said, ‘Nothing has changed. She is still Laura, your baby girl, and she is happy with a good quality of life.’ I remember that every day. Laura is such a sweet, loving child who touches everyone she meets.”

Brenda Witherspoon-Bedard from Family and Children’s Services in Fort Frances assists the Ahrens with available resources for families with special-needs children. Emily said Witherspoon-Bedard makes life much easier. “We’re very lucky to have her.”

Although Laura consumes a large portion of Emily and Sean’s attention, Elly is far from left out. Both laugh at the thought of Elly not getting attention. “She demands it,” they said. 

Sean said that although Elly is very protective of Laura, she keeps a distance.

“We’re as forward with Elly as we can be,” Emily said. “Because it’s all medical, I don’t know how much she understands. We tell her Laura is very special and sometimes needs more help to do things.”

The couple, married for five years, agree that having a child with special needs has put stress on their relationship, but it has brought them closer, too. They admitted missing time together, but say they are committed to sticking together and traveling this difficult road as a family.

As far as more children are concerned, Emily and Sean aren’t in total agreement and it could depend on if Emily is a carrier of CDKL5 and the risk to pass it along to another baby exists. She is currently awaiting blood test results.

“I could be done right now,” Sean said as Emily stood behind him nodding she wanted more. 

“Hopefully, there’s no way we’re done,” she said smiling.

Signs and symptoms of a CDKL5 disorder

• Infantile spasms

• Many different types of epilepsy usually including myoclonic jerks

• A small head

• Hand wringing movements

• Marked developmental delay

• Limited or absent speech

• Hypersensitivity to touch, for example dislike of hair brushing

• Lack of eye contact or poor eye contact

• Reflux

• Breathing irregularities such as hyperventilation

• Grinding of the teeth

• Episodes of laughing or crying for no reason

• Low/poor muscle tone

• Very limited hand skills

• Some autistic-like tendencies

• Scoliosis

• Cortical visual impairment

• Eating/drinking challenges

• Interruptive sleep

• Characteristics such as a sideways glance, and habit of crossing legs

The International Foundation for CDKL5 Research is part of the Pepsi Refresh Project. The project gives away millions of dollars each month to fund user-generated ideas based on online votes. CDKL5 research is currently in the running for $50,000 to help find a cure for the disease. Log on to www.refresheverything.com and search CDKL5 to vote. More information can also be found at www.cdkl5.com.