"Sloan was diagnosed with Batten disease, or neuronal ceroid lipofuscinosis (CLN1) infantile type in January of 2023. Sloan’s diagnosis journey began in 2022 after we observed signs of regression or non-normal progression of life skills. Sloan was beginning to walk and pull herself up, she was saying words like “uht oh” and “dada”. Slowly we observed Sloan losing these skills and was no longer walking while assisted. A trip to her primary care physician was made and he completed x-rays and observed she may have a need for glasses. From here, things quickly progressed, and Sloan began having issues with eating and would have episodes of blank staring followed by periods of extreme exhaustion. We followed up with Sloan’s primary care doctor and he then got us scheduled with many specialists. What came to follow in January of 2023 shook our world to its core.
Batten disease, also known as neuronal ceroid lipofuscinosis (NCL), is a group of rare, inherited neurodegenerative disorders that affect the brain and nervous system. This disease is caused by mutations in genes that encode enzymes responsible for breaking down waste products in brain cells. These waste products, called ceroid lipofuscin, accumulate in the brain, leading to cell damage and death.
There are 13 known types of Batten disease, classified as CLN1 through CLN13. The age of onset, severity, and progression of symptoms vary depending on the type. Children with Batten disease may appear healthy and develop normally for the first few years of life before they begin to show symptoms. Children with these forms may have seizures or vision loss, or their development may slow or stop. Other symptoms include problems with movement, personality and behavior changes, and loss of language or speech skills.
The frequency of CLN1 disease is unknown; more than 200 cases have been described in the scientific literature. Collectively, all forms of NCL affect an estimated 1 in 100,000 individuals worldwide. Fewer than 50,000 people in the U.S. have this disease.
There is currently no cure for Batten disease. Treatment focuses on managing symptoms and improving quality of life. The average lifespan after symptom onset varies depending on the type of disease but is typically shortened. Patients diagnosed with CLN1 usually do not survive past childhood. Although it is uncertain, doctors estimate Sloan’s life span to be between 4-6 years of age.
Although this disease has taken Sloan’s sight, speech and mobility, she is still as sassy as can be. She will let it be known when she doesn’t like something and when she is happy. One of the hardest things to process was the loss of Sloan’s smile and laughter. Recently, whether it be due to medication changes, routines, or a miracle, we have been blessed again to see Sloan’s smile and laugh. Sloan loves her big brother Cainen (7) and enjoys when he sits and talks with her. Sloan has also taken a liking to her dog Sam and the two have formed a special bond. Sloan enjoys the warm weather, going on walks, listening to books, and listening to music. Due to her blindness, Sloan will often become agitated if she can’t hear, feel, or smell the presence of another.
Sloan has touched the lives of many and has taught me the importance of living for each day and cherishing the little things in life. Although our time with Sloan will be shortened, we chose to make everyday count and spend our time focusing on the memories we can make and moments we get to share." -Sloan's Dad
