We found out when I was 20 weeks gestation with my second child that he had hydrocephalus. After he was born we just treated the conditions it brought with it. When asked what he might have we were told multiple disabilities. We went seven years before we decided to have another child. Before getting pregnant we decided to see a geneticist to see if it might be a genetic disorder. They looked at our family’s background and decided that there was a 4-5% chance that there was a 50% chance that if it was a boy that it would have L1 Syndrome. It was thousands of dollars to do the testing so we decided that if we were to have another child that would have special needs we would be willing to take that risk.
When we went in for the ultra sound at 20 weeks for our third child we found out that he also had hydrocephalus. This is when we decided to have the genetic testing done on our second child. It came back positive for having L1CAM. We were given this paper written about our children’s condition:
http://www.ncbi.nlm.nih.gov/books/NBK1484/
L1 Syndrome is located on the L1CAM gene. It is a deletion or malformation having to do with this gene. These are some clinical characteristics of L1 Syndrome. X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS);
MASA syndrome (mental retardation, aphasia [delayed speech], spastic paraplegia [shuffling gait], adducted thumbs); Adducted thumbs are when the thumbs is tucked into the center of the hand.
SPG1 (X-linked complicated hereditary spastic paraplegia type 1) this is like Cerebral Palsy.
X-linked complicated corpus callosum agenesis. This is when the corpus callosum in the brain has not fully formed.
L1 syndrome is inherited in an X-linked manner, which means through the female. Women who are carriers have a 50% chance of transmitting the L1CAM pathogenic variant in each pregnancy. Sons who inherit the L1CAM pathogenic variant will be affected; daughters who inherit the pathogenic variant will be carriers. Affected males do not reproduce. Carrier testing of at-risk female relatives and prenatal testing are possible if the L1CAM pathogenic variant has been identified in an affected family member.
Our boys vary in the severity of their condition. Some have very little head control while others can walk with little assistance. Many of them suffer from seizures. They require wheelchairs, walkers, seating system and bath chairs. Some are potty trained and others are not. There are only a few that can carry on a normal speaking conversation although some are able to use communication systems to have conversations. Several have autistic tendencies and sensory issues. Most of them have at least one shunt to drain the CSF out of their head.
Even though we deal with physical therapy, occupational therapy, speech therapy, and a myriad of other therapies our children are happy, good natured boys most of the time. They never cease to amaze us with the new things they can do or the things they understand.
Some of the Specialists we see are: Physical Therapists, Occupational Therapists, Sight Specialists, Neurologists, Neurosurgeons, GI doctors, Orthopedics, and other specialists as needed. Many of our boys have g-tubes.
L1 Syndrome is so rare that it has been difficult to find others with the condition. Here in Utah we have been fortunate to find four children (two of them being mine) that have this condition, but there are many that have not been able to find someone near that they can communicate with.
We went without answers for so many years. It was hard having children with a condition that we knew so little about. In the last part of 2010 we were finally able to find some others with this same condition. When we would ask doctors about it they would just say it is rare. A closed FB page was started and today we have 170 members. That would be parents of kids with L1 Syndrome. We reach from New Zealand to Finland to the USA to Brazil. We find the most support from each other. Our doctors sometimes ask us for answers about our boys’ condition.
We would rather have people ask questions then avoid us and shun our children.
When we went in for the ultra sound at 20 weeks for our third child we found out that he also had hydrocephalus. This is when we decided to have the genetic testing done on our second child. It came back positive for having L1CAM. We were given this paper written about our children’s condition:
http://www.ncbi.nlm.nih.gov/books/NBK1484/
L1 Syndrome is located on the L1CAM gene. It is a deletion or malformation having to do with this gene. These are some clinical characteristics of L1 Syndrome. X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS);
MASA syndrome (mental retardation, aphasia [delayed speech], spastic paraplegia [shuffling gait], adducted thumbs); Adducted thumbs are when the thumbs is tucked into the center of the hand.
SPG1 (X-linked complicated hereditary spastic paraplegia type 1) this is like Cerebral Palsy.
X-linked complicated corpus callosum agenesis. This is when the corpus callosum in the brain has not fully formed.
L1 syndrome is inherited in an X-linked manner, which means through the female. Women who are carriers have a 50% chance of transmitting the L1CAM pathogenic variant in each pregnancy. Sons who inherit the L1CAM pathogenic variant will be affected; daughters who inherit the pathogenic variant will be carriers. Affected males do not reproduce. Carrier testing of at-risk female relatives and prenatal testing are possible if the L1CAM pathogenic variant has been identified in an affected family member.
Our boys vary in the severity of their condition. Some have very little head control while others can walk with little assistance. Many of them suffer from seizures. They require wheelchairs, walkers, seating system and bath chairs. Some are potty trained and others are not. There are only a few that can carry on a normal speaking conversation although some are able to use communication systems to have conversations. Several have autistic tendencies and sensory issues. Most of them have at least one shunt to drain the CSF out of their head.
Even though we deal with physical therapy, occupational therapy, speech therapy, and a myriad of other therapies our children are happy, good natured boys most of the time. They never cease to amaze us with the new things they can do or the things they understand.
Some of the Specialists we see are: Physical Therapists, Occupational Therapists, Sight Specialists, Neurologists, Neurosurgeons, GI doctors, Orthopedics, and other specialists as needed. Many of our boys have g-tubes.
L1 Syndrome is so rare that it has been difficult to find others with the condition. Here in Utah we have been fortunate to find four children (two of them being mine) that have this condition, but there are many that have not been able to find someone near that they can communicate with.
We went without answers for so many years. It was hard having children with a condition that we knew so little about. In the last part of 2010 we were finally able to find some others with this same condition. When we would ask doctors about it they would just say it is rare. A closed FB page was started and today we have 170 members. That would be parents of kids with L1 Syndrome. We reach from New Zealand to Finland to the USA to Brazil. We find the most support from each other. Our doctors sometimes ask us for answers about our boys’ condition.
We would rather have people ask questions then avoid us and shun our children.
I just found this blog and I LOVE It! I'm in the group with you, and think this is a great summary!
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