Sean's Battle with Batten Disease
Hello, my name is Sean. I am 11 years old with CLN2 Batten Disease. I was diagnosed in 2021 after my first seizure in 2018, and my medical bills have caused financial hardship to my family. We need some help to cut down on our rising medical debt from my treatments and medical equipment. My mom cannot have outside employment because she needs to be there whenever I have a seizure, fall or struggle to communicate. My dad works very hard to provide for the family; he misses a lot of work to take me to my medical and therapy appointments. He works so hard that I do not qualify for any state or federal assist programs.
I receive enzyme replacement treatment at my local children's hospital every two weeks, after insurance is over $2,000. This is an over 6 hour infusion treatment. This treatment will slowdown the progression of the disease in hopes of a cure.
I have already began to feel the effects of the disease. My walking has become very difficult as my muscle are stiffening, coordination and balance is lacking. I can no longer kick a soccer ball like I used to. I cannot even write my own name and my alphabet and counting numbers that I used to know have escaped me. Batten Disease has recently taken away my ability to speak and eat. I am now fed through a G-Tube and karaoke is out the question.
Even with all this happening to me I am still a loving, lovable kid. I love to laugh, shake my butt to the music, and play with my older sister.
Any donations will be helpful and my family will be so grateful.
Batten Disease is a neurological disease with the follow systems.
- Vision loss (this symptom does not affect adults with Batten disease).
- Epilepsy (seizures).
- Cognitive problems, trouble learning or difficulty keeping up in school.
- Problems with speaking. This includes speech delays, stuttering and repeating words or phrases several times.
- Clumsiness and issues with coordination, balance and movement.
Other signs appear later, or they may overlap with the first symptoms. They include:
- Tremors, tics, muscle spasms and myoclonus (abnormal muscle twitches).
- Changes in mood, behavior or personality.
- Dementia.
- Hallucinations and episodes of psychosis (being out of touch with reality).
- Sleep disturbances.
- Muscle spasticity and rigidity (muscles that are always tight or flexed).
- Weakness in the limbs, which progresses into paralysis.
- Heart problems, such as arrhythmia (in teenagers and young adults).
