Hope Never Fades

“Sometimes you just have to focus and remember the good days and accomplishments, and that hope never fades.” – Mindy Spada

August 31, 2019. It was an inconspicuous Saturday at the beginning of Labor Day weekend. Amongst the family activities on Mindy Spada’s calendar was horseback riding. But the anticipated fun was not realized as Mindy’s 11-year-old daughter Madeleine (Maddie) fell while riding. She was knocked unconscious, suffering a Traumatic Brain Injury (TBI) from the incident. Maddie’s road to recovery would be challenging, and her family couldn’t have predicted what would happen next.

Maddie’s TBI was difficult on its own. However, looking back, Mindy believes the accident was also responsible for new symptoms that appeared in the days and weeks that followed. Maddie began experiencing episodes of excessive sleep known as recurrent hypersomnia. The symptoms didn’t precisely reflect TBI reactions. In a story all too familiar to KLS families, Maddie’s physicians were puzzled by her symptoms. There were numerous referrals to specialists and many opinions. Mindy and her family made countless phone calls, had ongoing discussions, and looked for answers on the internet – all to determine the cause of Maddie’s hypersomnia episodes.

Mindy was relentless in her pursuit of answers. She floated potential diagnoses to Maddie’s doctors based on stories she read online and saw on television. But none of the illnesses turned out to be what ailed Maddie.

During this time, Mindy took Maddie to the University of Michigan’s hospital and clinics. They sought second and third opinions from psychiatrists. There were incorrect diagnoses made and medications tried in the hopes of finding a combination that improved Maddie’s hypersomnia episodes. Maddie added a pediatric neurologist to her medical team to provide another qualified voice in hopes of finding answers. But the mystery of what was causing Maddie to sleep and feel so “off” for long periods of time remained unsolved.

As the months turned into years, and Maddie experienced more than 20 episodes, a turning point occurred. An attending neurologist conducting a routine EEG recognized the signs of Kleine-Levin Syndrome and started asking interesting questions. But like in many cases of rare diseases, the doctor dismissed the correct diagnosis. “It couldn’t be KLS,” the neurologist said. “It’s too rare.”

Mindy quickly found the KLS Foundation online and found questions that could be used by a doctor to help diagnose the condition. She finally knew what was happening to her daughter.

There is no definitive clinical test to diagnose Kleine-Levin Syndrome as of now. A diagnosis depends of a physician’s familiarity with KLS, and it can take years to rule out other possibilities and receive a confident answer. That’s why it’s imperative that the KLS Foundation educate the medical community about this condition – so more doctors can quickly recognize KLS when patients turn to them for help.

During Maddie’s frequent episodes, Mindy and her family never gave up hope they would get the answers they sought. It was demoralizing and exhausting at many points during the KLS diagnosis journey. However, in the end, there was a sense of relief in accepting the diagnosis of Kleine-Levin Syndrome and finding the KLS Foundation and a community of KLS families to understand and support them.

In the world of rare diseases, there is no substitute for feeling like you aren’t alone and that someone else can relate to what you are living. And within the KLS community, hope never fades. Together, we are marching toward better understanding of this complex disorder, and hopefully soon, a cure.

Mindy recently shared that Maddie is being inducted into the National Honor Society as a junior in high school. Maddie has been episode-free for almost 6 months. After much advocacy, Mindy was able to find the best team of doctors at a local Corewell Health System near their home. Between the team of doctors, the school system, and the KLS Foundation and community, Mindy and Maddie have hope for a bright future and fulfilled dreams.