L1 Syndrome, CRASH Syndrome, x-linked hydrocephalus

What is L1 Syndrome

What is L1 Syndrome?

Ultimately, L1 Syndrome is a genetic mutation on the L1 Cam Gene that causes severe physical and mental delays. When I explained L1 the night before I delivered, I had no idea what to expect for my son. I didn’t really care about the science of L1 at the time. I cared about how it affected me, and how it would affect my son and my family. All of my research left me with a bunch of new big long words.

I have found an amazing support group of L1 Syndrome parents online. These parents enlighten  me and share their journies with me. They are the saving Grace God sent me. If you are reading this as a parent with an L1 child, please contact me and I can give you information to join this support team!

The Real Deal

L1 Syndrome, also known as X-Linked Hydrocephalus, prevents part of the brain developing because the DNA genetic makeup is altered. The term Hydrocephalus means that there is extra cerebral spinal fluid on the brain that can not be absorbed like normal. More severe patients of hydrocephalus receive shunts to assist the body with absorption. Although each L1 patient is different, and each family owns its own individual mutation, the disruption is typically a huge one that the body cannot compensate to correct. Each child will have their own individual strengths and weaknesses. He will have good days. He will have bad days. There is no way to predict what our boys will be able to accomplish, they are each one of a kind.

Noah has Agenesis of the Corpus Collosum (ACC). The bundle of nerves that connects the two hemispheres of the brain and allows them to work together is missing. People with ACC can be affected either greatly or not at all. Do not underestimate an L1 baby boy.

 

What’s the Hardest Part?

The hardest part of L1 Syndrome is the waiting and the unknown. But what’s silly? I have a healthy daughter. Just like we don’t know if Noah’s shunt will ever fail and need revision (surgery), we don’t know if Kara will ever fall and break an arm (need surgery). Its important to remember that everything in life God blesses us with is unknown. We are all waiting for the unknown. Our L1 boys are absolutely no different!

 

Where are we today (5 months old)?

In the original blog, I wrote:


Ultimately, it means we pray and love, wait and see. It means EACH child is different. No two kids are the same, no two mutations are the same.  We are expecting to see delayed speech/learning, low muscle tone, hydrocephalus, and delayed motor skills. We have been told he may need a wheelchair, he may never be independent, we may never hear him sing. We have been promised he will be intelligent, give more love than any other person ever knew existed, and make people laugh. We are hopeful he will be the odds: he will nurse, he will walk, he will find his own way to communicate.


Now, I’ll say this….. (he is 5 months old)

We still pray. We still wait. We still see. We grow with our support group and watch our son and the children of other L1 families grow having both good days and hard days. We see development (holding heads up and walking) and we see set backs (shunt revisions and eye surgeries). We see delayed and low muscle tone (he’s 5 months and just now starting to hold his head up) and high muscle tone (leg rigidity), but we also see celebrations (he coos and brings his hands to his mouth to show hunger). We are waiting for what we’ve been told. We’re experiencing what we were promised. He already makes everyone laugh. He gives more love than we could dream of giving him. And he has beat the odds. He lives. He nurses. He communicates.

My baby is thriving. And you wanna know what’s cool? He’s my baby! Now you can watch him grow (below)! At the very end of the thread are the links to all the other posts about progress around Noah Gabriel.

L1 Syndrome, CRASH Syndrome, x-linked hydrocephalus

L1 Syndrome, CRASH Syndrome, x-linked hydrocephalus

L1 Syndrome, CRASH Syndrome, x-linked hydrocephalus

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L1 Syndrome, CRASH Syndrome, x-linked hydrocephalus

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L1 Syndrome, CRASH Syndrome, x-linked hydrocephalus

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Noah’s Story
What is Wrong with Our Baby Boy?
Baby Boy Eagle Has A Name! He’s Born!
My Two Day Old Warrior
Totally In Love, Noah’s Improving at 5 days old
Noah’s Moving On Up
There’s Hope In Progressive
The First of the Setbacks
Back on the Road to Recovery
Slow and Steady Wins the Race
Steps Toward Home
Noah’s First Week Home
The Therapy Journey has Begun
7 Weeks Alive
Noah is Enabled; never DISabled
Noah’s Brain Development
My Little Family
L1 & The Pediatric Ophthalmologist
Really, What is L1? (this post)

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