L1cam Syndrome is very rare. It is a chromosome disorder of the L1CAM gene. This condition only affects males. This condition is also a chronic neurological disorder that 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 is given is by genetic specialists. Just like most diagnosis’, it is devastating, but when faced with the unknown it is hard to hear and is very hard to understand at times. L1cam is a hard diagnosis to swallow. There are so many medical complications that are unheard of. Living with L1 syndrome 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. Some days all I pray for is to Just Breathe……
There is a variety of L1cam symptoms that includes multiple diagnosis’ that I will share in the coming weeks ahead under the L1cam page.
Here is the website for NORD (National Organization of Rare Diseases: