A glimpse @ Speech Therapy! Batten Disease effects language development so we do speech twice a week

#battendisease #epilepsy #raredisease #fightingforacure #lovetoemma #speechtherapy
Batten Disease CLN2 (late infantile neuronal ceroid lipofuscinosis type 2) is an ultra-rare and rapidly progressing pediatric brain disorder caused primarily by autosomal recessive genetic mutations. Children with CLN2 disease produce deficient levels of the enzyme TPP1 (tripeptidyl peptidase 1). Without enough of this enzyme, children are unable to dispose of all the wastes normally metabolized in their cell’s lysosomes. The wastes accumulate in organs, particularly the brain and retina, contributing to the loss of cognitive, motor and visual functions. Most children don’t make it past the age of 12.
Emma was a healthy and happy baby always on the move with such a huge heart, big smile, and lots of sass! She was reaching all of her milestones and growing and developing wonderfully. It wasn’t until approximately 2.5 years old that we noticed a slight speech delay, but we figured this wasn’t a huge problem that school and/or speech therapy couldn’t solve. As Emma turned 3, not only was her speech not improving, but it was drastically declining, and these raging and horrible outbursts began occurring out of nowhere…. this was completely unlike Emma. She even began to become distant with her classmates at preschool, and her listening completely disappeared. She developed facial ticks and head nodding, and her sleep declined. For a few months, she was actually speculated a misdiagnosis of Pans/Pandas. We were losing our daughter day by day. At 3.5 years old she had her first seizure in the car on the way to school on April 21, 2021. Everything changed in the blink of an eye, and the wheels of motion began. It was 3 short weeks later that Cooks called us and gave us her genetic testing results. The words batten disease, rare, terminal diagnosis, and no cure all continue to ring in our ears. Our lives forever changed on that day May 12, 2021. We now knew what Emma is suffering from, and received answers to all the questions and concerns we had. It was devastating news and we are still processing it today.
On June 21, 2021 Emma was rolled away from us at Children’s for her first brain surgery where her neurosurgeon placed a port inside the 3rd ventricle of her brain. This port is where she receives her brain juice, as we like to call it, which is an enzyme replacement therapy that helps treat CLN2 patients. CLN2 is the only form of Batten Disease that has a treatment at this time, and there are multiple forms of this disease. She began her treatments on July 5, 2021. In a CLN2 patient their brain has a tripeptidyl peptidase 1 (TPP1) deficiency. Her infusions have been proven to slow the overall loss that a batten warrior would endure without therapy. For the rest of her life she will receive these invasive infusions every 2 weeks at Children’s, which are very long and tiring days for our family. We do not know the long term results or the outcome, but we do know that it isn’t a cure. This enzyme therapy called Brineura has only been out for 5 years. We do know that Brineura treated patients do demonstrate an overall good response so far, which gives us some hope at prob longing her life a tad bit. Please follow Emma’s journey with batten disease as we bare these burdens and continue to carry the hope. There are various gene therapies that are underway. We are praying for better treatment alternatives for our CLN2 community, and to hopefully one day land a cure to this terminal disease!