Love To Emma- Beating a Rare Childhood Disease

“Children lose their ability to talk, walk, see, eat, and breathe…”

In spring of 2021, our life as we knew it drastically changed. We learned that our beloved Emma, our tender 3 1/2 year old, had been diagnosed with the rare and formidable CLN2 Batten Disease. Emma was born a healthy baby girl, but at the age of 3 she started showing signs of speech regression. It was soon after, at the age of 3 1/2, that she suffered her first seizure. This landed our family in the ER for the night, where Emma had lots of testing. We left the following morning after completing genetic testing. We did not anticipate, much less expect what was to come next.

A rare and fatal diagnosis that robs children of their childhood….

CLN2 Batten Disease, a rare genetic disorder, exacts its toll on motor skills, speech development, and cognitive abilities as it attacks the nervous system. The prognosis includes the gradual loss of acquired skills, worsening intellectual disability, and behavioral challenges. Eventually, it will take our daughter’s life, as there is still no cure, and the life expectancy is 6-12 years old. Basically, she is slowly losing brain cells.

Emma, our brave little soul, gets an enzyme replacement therapy named Brinuera. Every 2 weeks, our journey leads us to Children's Hospital specialty center in Dallas, where Emma receives a prolonged infusion through a surgically placed port into her brain. She sits there in a hospital room for 7-8 hours twice a month. This intricate process aims to replenish the deficient enzyme, tpp1, a gene that her fragile body cannot produce on its own. ERT is not a cure, but rather a valiant effort to stall the march of battens, to extend the reprieve from its relentless grip.…. We are caught racing against time and gripping onto hope.

Raising a child with special needs is expensive. Plain and simple. We have learned the hard way just how broken our medical system truly is. On our own, we can’t afford safety beds, safety chairs, bath seats, wheel chairs, constant diapers and wipes, medications, and the medical debt. Every donation blesses our family in such a huge way. As we count our blessings, and pray for a miracle, we want to extend our families thankfulness to you for helping us while we are in a desperate situation. God bless you.

Please pray healing miracles over our children with CLN2. Please follow Emma’s story across all social media, and help me find support for this rare cause. ❤️‍