L1 Syndrome Affects Families
Erica, can you tell us about your family?
I’m Erica Lambert, and I have two boys, both of which have L1 Syndrome: Carson Paul is 8 years old, and Braylon Thomas is 4 years old. I have been married for 9 years. Prior to the boys, I worked outside the home, but when Carson was about 4 months old, we made the choice that I needed to stay home with him. Up until the four month point, my mom helped with Carson and his therapies with Early Steps. I have now been a stay at home mom for 7-1/2 years, and yes … it gets tough at times!
Can you tell us about finding out you were a carrier of L1 CAM Syndrome?
Technically, because I’ve never been formally tested, I still don’t know. Carson is actually the first male on my mother’s side in 42 years. No one had ever heard of hydrocephalus..let alone L1-Syndrome. Carson was first diagnosed with hydrocephalus in utero at 14 weeks. After he was born, we did genetic testing with Carson and that led to the L1 Syndrome diagnosis.
At that time, eight years ago, I didn’t know of anyone, none the less a support group, for this condition. When we decided to have Braylon, our geneticist told us it was a very small chance for me having another boy with L1 given that we don’t have a family history of it.
[[Editor Add: Gene mutations, in addition to being genetically inherited, can also spontaneously occur in any child. This means that you or your next door neighbor who have all healthy histories could, in theory, have special needs children due to genetic mutations. It appears Erica’s geneticist believed Carson’s mutation was a spontaneous mutation.]]
Welcome to the world L1 Baby #2!!
So, we decided to have our second child, Braylon. While Carson showed hydrocephalus at 14 weeks gestation, Braylon waited until he was 27 weeks in utero to show signs of the enlarged ventricles. However, when technicians, doctors, and Beau & Erica saw adducted thumbs in the ultrasound, they knew then Braylon also had L1 Syndrome.
What Was Different about Preparing for a Baby with L1 Syndrome than a Healthy Baby?
The same day my amnio was scheduled, I had a regular check my primary OB. I went in, excited to see the little guy. Immediately, I noticed the 4 black spots (fluid) building up in his brain. That healthy baby we envisioned died in our minds. Our hearts were crushed, but we knew we could handle it. It did take some time to get “my head in the game.” That I would have 2 special needs children.
I did surgically deliver by cesarean both of my boys, Carson at 35 weeks and Braylon at 37. My MFS felt that taking C early would reduce anymore damage to his brain. I received the steroid shots for his lungs a few days before my c-section. Bray’s head growth had come to a standstill, so he was able to “bake” a little longer.
Were You In NICU? How was your stay?
Yes, we were with both boys. With Carson, it wasn’t bad. We were there 5 weeks and were lucky that a family friend was a nurse in the ward. She made me feel a lot more comfortable. Braylon’s stay wasn’t quite as long, and it wasn’t bad either. I knew what to expect this go around, so I was a little more confident.
My parents, hubby and inlaws were a huge help through the NICU stay, especially when we had Braylon. I canceled therapies for those few weeks, but Carson still went to school. Carson was allowed in NICU, but he didn’t like hearing babies cry so we limited his time there. Our hospital was an hour away from our home, so the NICU stay was more difficult with Braylon because we had Carson at home. We did what wokred for our family – making sure the boys needs came first. On extended stays, we would tag team.
How was life when your son Came Home?
Carson was sooo easy! NICU had him on a schedule, and we carried it into our home life. I’m thankful we didn’t come home with meds and tubes – just our little man who had lots of follow up appointments.
Braylon’s coming home was hilarious! My husband brought Carson up to the NICU that morning as I was getting all of the goodies and Bray ready to head home. We loaded up the car, and Bray started screaming (he likes motion, and we were not moving yet). Then, Carson started crying because his brother was crying! I was in the middle of them, and my husband was driving. We couldn’t help but laugh!!
How was your son’s first year of life?
Carson was such an easy baby. We had some surgeries, but they were outpatient and a few days post op was back to himself. He progressed slowly in therapy. I had my moments as a mom, but to hear and see him do things he “wasn’t suppose to do” was amazing.
Braylon’s first year was rough. His shunt failed more than once. We spent many days in the hospital. He was a bit more demanding too – he had to be swaddled, milk had to be warmer, her preferred bouncing to rocking. But I laugh at it because he is JUST like me!!
How are the boys doing now?
Carson is 8 now and Braylon is 4. We are trucking along now. Both are doing so well in therapy, they love going to school and seeing their friends. We’ve done things we didn’t think were possible with having special needs children – snow skiing, being in a Miracle League. We go on a yearly trip to the beach. Their disabilities don’t stop us. We just live life.
Has it always been easy? Heck no! We’ve been through scary times with Bray. My husband and I have seen how quickly our life can turn into a hospital stay, hooked to machines. We want them to experience fun things and enjoy life.