OUR STORY

THE KLING FAMILY

Priscilla and Ammon Kling are the proud parents of Kelsey (16) and Landon (14).

Kelsey was born on August 8th, 2004.

As first-time parents, Priscilla and Ammon were very excited to welcome their first-born child into their family.

Like all parents, they couldn’t help but stare at their little baby imagining what her life would become; they had big dreams for her future. Kelsey was a happy baby with so much love to give. She was always smiling and loved socializing. But when it came to walking, potty training and preschool, Kelsey was not keeping up with other children.

By age 4,

the differences between Kelsey and the other kids were becoming more apparent.

Kelsey’s pre-school teacher told Priscilla that Kelsey wasn’t retaining information like her classmates, and she suggested Kelsey get tested for a learning disability. The evaluation found that Kelsey had “borderline intellectual functioning” (sometimes referred to as “mild retardation”) The Kling Family was devastated by the evaluation, but since the differences Kelsey displayed weren’t pronounced, Priscilla and Ammon chose to keep Kelsey in regular school.

When Kelsey was six years old

a psychologist evaluated her and asked if she had ever had seizures.

At that point, Kelsey had never had a seizure, but the question haunted Ammon and Priscilla. They made Kelsey an appointment with a neurologist, and they were relieved when the doctor concluded that Kelsey had some learning delays but no signs of additional problems. The doctor advised them to “wait and see.”

Life changed forever on Super Bowl Sunday 2012!

Ammon was out of town that day, and Priscilla went to a friend’s house to watch the game. Kelsey started to complain of stomach pains and began to run a fever.

Priscilla immediately called the Doctor who recommended Motrin for what he suspected was a cold. That night Kelsey slept with Priscilla. In the middle of the night, Kelsey’s body started shaking and for two minutes it was wracked with violent convulsions. Horrified, Priscilla called 911 and the paramedics rushed Kelsey to the hospital.

The Klings soon learned that their daughter had experienced a “Grand Mal Seizure.” The doctor concluded that it was probably a febrile seizure, which are caused by high fevers and are not uncommon among children. Priscilla and Ammon were told that everything would be okay, and that febrile seizures generally don’t return once the fever is gone.

Two weeks later,

Kelsey was in the backseat of the car when she began vomiting and convulsing violently.

She was having another seizure. In a panic, Priscilla immediately drove to the hospital where conflicting prognoses were given, and the Kling family’s relentless struggle to find answers began. Since Kelsey did not have a fever or other signs of illness, the doctors concluded she might have epilepsy.

Again, Priscilla was told not to worry and that with time, Kelsey would likely grow out of the seizures. Kelsey was discharged and sent home with seizure medication

Two hours after leaving the hospital,

Priscilla got a call from another doctor at the same facility.

He informed her that he disagreed with the previous doctor’s diagnosis. He had reviewed Kelsey’s three MRIs and discovered something much worse than epilepsy: Kelsey had brain atrophy.

The news that part of Kelsey’s brain was shrinking was completely and utterly devastating. Overwhelmed and confused, Priscilla and Ammon asked the doctor “what would you do if it was your daughter?”, and the doctor replied, “I would pray.” In that moment, they knew that their role as parents would expand into being full-time advocates for their daughter. Their lives were flipped upside down and the unending journey began.

In search of a second opinion, the Klings set out to see a Neurologist at Children’s Hospital Los Angeles. Another MRI was performed and the results contradicted those of the earlier MRIs; it didn’t show any brain atrophy. The neurologist diagnosed Kelsey with epilepsy, put her on Keppra, and advised the Klings to wait and see how things progressed. Unfortunately, this was just the first of many misdiagnoses.

Kelsey had one test after another,

and each doctor seemed to have his or her own interpretation of Kelsey’s condition.

However none of these “conditions” seemed to line up exactly with all of Kelsey’s symptoms and test results. No one could say for sure if her brain was shrinking, so Ammon and Priscilla decided to focus on getting the seizures under control.

IN THE FOLLOWING SIX MONTHS,

Kelsey didn’t have any seizures. She was learning at an acceptable rate and seemed to be completely stable. This gave the Kling family hope that she might live a normal life.

AFTER SIX MONTHS ON VARIOUS MEDICATIONS,

the side effects started kicking in.

Kelsey’s mood had changed; she had become angry, aggressive and generally unhappy. Even though she couldn’t verbalize it, she was obviously miserable. Ammon and Priscilla chose to change medications in hopes of mitigating the side effects. Unfortunately, this caused Kelsey’s seizures to come back with a vengeance. The medication regimen was changed five more times, but nothing seemed to work.

AS THE MONTHS WENT BY AND KELSEY’S SEIZURES CONTINUED,

the Klings began their extensive research and discovered an article on the use of Cannibidiol (CBD).

After consulting with a doctor, they decided to try it for Kelsey. But after two weeks, Priscilla and Ammon chose to put CBD on hold when an exciting opportunity came to light: The EXOME genetic test.

This test had the potential to reveal Kelsey’s diagnosis — an answer to their prayers. While the XOME genetic test could be transformative, it unfortunately came with a hefty price tag. In September of 2013, with the help of family, friends and the community, the Klings were able to raise enough money to pay for the testing. Their hope was renewed. The Kling’s headed to Cedars-Sinai Medical Center where they had the testing done and learned it could take six months to get the results.

In October of 2013,

when Kelsey was eight, there was a new glimmer of hope.

UCLA had developed a test that could determine if a patient’s seizures could be halted by surgery. Kelsey was admitted to UCLA where she underwent eight straight grueling days of EEG testing. The doctors explained that if they could pinpoint the specific part of the brain that was causing the seizures – and then remove it without harming any other functions – they could stop the seizures. Sadly, Kelsey’s EEGs showed that her seizures were coming from several parts of her brain, which meant that she was not a candidate for surgery.

Unsure what to do next, the Klings took a friend’s recommendation to visit the Mayo Clinic. In December 2013, they packed their bags and headed to Minnesota in hopes of finding some answers. They spent an exhausting week in the hospital reviewing Kelsey’s extensive medical history and getting several tests done. She underwent a spinal tap, MRIs, CT Scans, and EEGs, as well as a skin test. They left the hospital with hopes high as they anticipated the test results, and they continued to pray for some much-needed answers.

When the Mayo Clinic results came back, the news challenged their faith. The Klings were informed there was a high probability that Kelsey had Mitochondrial Disease. The test results also confirmed the presence of brain atrophy, which could be directly linked to Mitochondrial Disease. The Klings absorbed this information but did not fully embrace it since there was no proof of the diagnosis, and they were still waiting for the XOME genetic test results to come back.

As the seizures continued, and another excruciating six months had passed, Priscilla and Ammon received the results from the XOME genetic test and opened them together.

On June 3, 2014

disappointment and heartbreak set in as the EXOME results came back as inconclusive: another dead-end.

Priscilla and Ammon felt helpless. The only thing they knew for sure was that the seizures were not stopping. Their biggest question was whether or not Kelsey’s brain was shrinking, and doctors could not agree on the answer.

Over time, many things changed for Kelsey. She went from being in a regular classroom to being transferred into a special education program. Meanwhile, Priscilla had to quit her job as a dental assistant to be a full-time caregiver to Kelsey. Fortunately, Ammon had a flexible job in sales with a company that was extremely accommodating and sensitive to the needs of his family.

Although this adjustment time was very hard for the Kling family, they felt completely supported by their friends and family. Priscilla’s parents became regular babysitters to Kelsey, which helped in more ways than one. Friends and cousins made frequent visits to the house in an effort to keep Kelsey engaged and entertained. It was not the life they expected, but the constant love and support of family and friends made a world of difference to them. This had become their new reality, and they had to accept it. With their army of supporters, none of whom were willing to take no for an answer, they continued their exhausting journey in search of answers.

NEXT, THE KLING FAMILY VISITED CHILDREN’S HOSPITAL OF ORANGE COUNTY,

where they found a doctor who suffered from seizures himself, so they felt he was a perfect fit.

In August of 2015, Kelsey underwent a four-day hospital stay where she was put through another round of extensive testing such as induced seizures under brain monitoring, MRIs and EEGs. Once the tests were complete, they scheduled an appointment for September to go over the results. When the day of this appointment came, the Klings felt more nervous than usual because the doctors had informed them that only parents should attend the appointment. Their gut was screaming that with these restrictions, the news couldn’t be good.

Unfortunately, they were right. The doctor sat Priscilla and Ammon down and let them know that after evaluating and reevaluating Kelsey’s results; they were convinced that Kelsey might have Batten’s Disease. They explained that the brain atrophy had continued and that her brain was still shrinking. The medical team presented their plan. Over the course of the next few months, they made some changes to Kelsey’s medications. They also referred Kelsey to another genetic doctor at CHOC. To no one’s surprise, they asked to put Kelsey through a couple more tests, which ruled out Batten’s Disease, but were otherwise inconclusive.

Unfortunately, in 2016 going to school became too hard on Kelsey’s mind and body. She couldn’t keep up with the other children, and exhaustion would ultimately set in. So Priscilla and Ammon made the decision to pull her out of school.

Meanwhile, Kelsey seemed to be getting worse. Although they had gained more control over her violent seizures, the brain atrophy continued. After much thought, Ammon and Priscilla decided to discontinue their visits with their doctor at CHOC and search for a new doctor who might be better suited to address Kelsey’s needs.

In 2017, Priscilla had a conversation with a friend who has two children with Batten’s Disease and who also started the Charlotte and Gwenyth Gray Foundation (https://www.curebatten.org/). She recommended that Priscilla take Kelsey back to UCLA to see the friend’s doctor. Priscilla called immediately and felt lucky to get an appointment with the very sought-after doctor.

The medical team at UCLA reviewed all of Kelsey’s medical records and concluded that she was a perfect fit for Dr. Stanley’s clinical trial for undiagnosed neurological diseases. Kelsey was accepted immediately, and Dr. Stanley explained that he would need blood samples and skin biopsies from Kelsey, Ammon, and Priscilla so he could perform what is called the Whole Genome Sequencing Test. The goal of this clinical trial was to grow stem cells taken from the three participants over the course of the next year. Then once the cells were thoroughly developed, they would be used to help Kelsey.

While patiently waiting for the stem cells to grow, Priscilla and Ammon searched for a new doctor for Kelsey. During their search, they learned that one of Kelsey’s previous doctors had just teamed up with a well-known doctor at CHLA. Priscilla and Ammon instantly knew CHLA was where they needed to be, so they made the move. Currently, both doctors continue to evaluate Kelsey and adjust her medications. They also have approved the use of CBD once again. Priscilla and Ammon are relieved to be in the secure hands of this dynamic medical duo.

KELSEY IS NOW 16

and still undiagnosed. The family eagerly waits for the stem cells to mature so they can finish the clinical trial at UCLA.

Due to the decline Kelsey has experience these last few years, she has lost most of her cognitive skills. She now depends on a full-time aid who assists with daily activities. She requires assistance to walk and she is dependent on diapers.

Life has changed drastically for the entire Kling Family, but the trials and hardships they have faced along the way have brought them closer. Throughout this journey they have learned that family is, and always will be, the most important thing. No matter what Kelsey’s future looks like, her family will stand by her, hand in hand, and offer their full support.

As of today, Kelsey is declining rapidly. She can no longer walk or talk. Her family hopes that by open sourcing her medical records and seeking assistance worldwide, someone, somewhere can help solve this puzzle.