L1 Syndrome is very rare. It is a Chromosome Disorder of the L1CAM gene. X-Linked Hydrocephalus is common with the L1cam. This condition only affects males. This condition is also a Chronic Neurological Disorder. It affects the entire nervous system. There are so many varieties to this condition. Each boy displays their own mutation. They are similar in so many ways and yet they are so different.
With L1 Syndrome, there is a range from mild to severe. Most of the information that your given by the specialists is devastating to hear and is very hard to understand at times because of all the medical issues that you deal with are unheard of. It is a day-to-day process of the what if’s or how to’s and wondering if your child will survive and thrive from one day to the next. There is a variety of L1cam that includes multiple diagnosis’s that I will share with you that we struggle with under the L1cam page.