L1 Syndrome

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That special needs life

Shortly after he was born, they did a blood test for genetic disorders, specifically for L1 CAM because they already knew (educated guess) that he had it . #L1Syndrome means there is a mutation of the L1 CAM gene on the x chromosome. His #Hydrocephalus is a symptom of this. Along with all of his other medical conditions. Logan has adducted thumbs, third nerve palsy, cortical visual impairment, a hernia, and this list will grow as he grows. His body just cannot seem to find homeostasis. He will be delayed developmentally. We do not measure his life by milestones but instead by what he shows us. Today he laughs and smiles and reaches to grab my long hair with the sweetest excitement. We do not know if he will walk or talk, but we will teach him as much as we can. Logan has therapies, lots of therapies. We have the dream team of therapists. Occupational, physical, play therapy, with a vision therapist being added soon.

L1 syndrome is fascinating. It’s horrible too. Here is a link all about it, no reason to explain it all here when my new L1 mom friend wrote a whole blog about it. http://freshlymessy.com/what-is-l1-syndrome/

Through this journey I have found a whole new network of L1 parent friends. They are going through or have been through everything we are facing. Nothing shocks them. It is an amazing group of people that feel like family already. I have been able to meet one mom and her son with L1. I cannot wait to meet more of them. We all have this amazing insta-connection. I’m so thankful for them. The best advice they’ve given me is that it’s okay to be sad, cry, and have dark days, but you can’t live there. Let it pass by and be happy for the time we have.

Another interesting thing is how people react to us. Some people just get it. I love those people, but before this I would never have been one of them. They just seem to understand, know what to say, and offer amazing words of advice and encouragement. Then there are those who have no idea what to say so they don’t say anything. That one is okay with me too. Mama always said, if you can’t say anything nice….. My least favorite is the “but he will grow out of it right? I mean, he will eventually be normal?” NO. He will never be typical. He will not grow out of it. This is who he is and we adore him. We hope you will too because he is too super cute. 🙂

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Sometimes you have to fight. But not what you’re thinking.

Tomorrow I will take my medically fragile 2 year old to his orthopedic appointment where his hips, spine, and adducted thumbs are followed. This doctor is amazing and not at all an alarmist. I do love that about him. But. Big BUT. At our most recent checkup I spoke with my son’s general pediatrician about why the ortho doc is not concerned that his spine is curved, not concerned that this hips are out. Why not? She said many times specialists are not concerned because they don’t see the hope of walking or having typical function. So tomorrow is the day. Tomorrow I will walk into that doctor’s office and tell him what my child needs. I will tell him it is time to be alarmed. Our physical therapist, occupational therapist, and general practitioner see hope and I need him to put on his rosy glasses and see it too. Let’s talk about a solution doc. Let’s talk about results. #Advocacy #L1Syndrome #RareDisease #ParentingAChildWithAGeneticCondition

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