Elsa, Ana, Olaf, and Elle

As the winter weather thawed into spring, the Gieselmann family held onto the winter for a little longer with a Frozen themed birthday celebration for their youngest daughter, Elle.  April showers kept the celebration indoors but didn’t keep the birthday girl from having a “blast.” The Frozen cake, complete with a miniature Elsa, Ana, and Olaf figures, was provided by Sugar Angel Angela Thompson of Baked Greats. There was just enough room atop the gorgeous cake for six candles in honor of Elle’s sixth birthday.

Celebrating Elle’s sixth birthday is as much challenge as it is a necessity and a joy for the Gieselmann family.  Elle, like her late sister Milla, suffers from Batten disease, a rare neurological disorder with a devastating prognosis. In Batten disease, inherited mutations in enzymes in the brain impair the degradation of proteins and cause the proteins to accumulate. Children begin to develop normally, but as the proteins accumulate, they develop neurological symptoms, notably seizures.  Overtime, the combined effects of the seizures and the continued accumulation of proteins cause deterioration of the central nervous system, which is typically fatal by age 10.

Milla, who was two years older than Elle, was diagnosed with Batten disease when she was four after months of unexplained seizures. Milla’s diagnosis identified the genetic component of the disease and prompted the Gieselmanns to test their other daughters for the mutation. Ann Carlyle, their oldest daughter was blessed to be free of the mutation, but Elle was also diagnosed with Batten disease. Milla’s diagnosis was a devastating revelation, but also a blessing for Elle since neurologists could proactively provide treatment and hopefully delay the progression of the disease.  Given her early diagnosis, Elle was eligible to participate in a trial for the treatment of Batten disease that provides the enzyme her body does not produce directly to the brain. While she still suffers seizures and a deteriorating nervous system, this treatment will hopefully delay the destructive accumulation of proteins in her nervous system.

Sadly, Milla’s disease had already progressed too far for her to receive this treatment. In 2016, just weeks after her sixth birthday, Milla passed away from the effects of the disease. Consequently, Elle’s sixth birthday is an important milestone for the Gieselmanns to celebrate and cherish. Although Batten disease is definitively fatal, the novel treatment will hopefully give the Gieselmanns more time with Elle than they otherwise would have.

As they confront Batten disease, Dana and Frazer Gieselmann, have and incredible outlook on finding joy in the world and remaining strong in their faith. They tell their story much better than anyone else ever could on their blog The Gieselmann 5 (http://thegieselmann5.blogspot.com/2018/)