Yes, There are L1 CAM Syndrome Babies with No Shunt
Emily, can you tell me about your family (husband/kids name ages)?
My name is Emily Burdin. My husband is Jay and we have been married for 5 years, and we’re writing this together. We have two sons Carter, 3, and Gavin, 6mo. Carter is our L1 miracle, and Gavin does not have L1. Carter is one little L1 CAM Syndrome Babies with No Shunt.
When did you find out you were a carrier of L1 CAM Syndrome?
I didn’t know that I was a carrier until after our oldest, Carter, was born. Carter’s second trimester screening was perfect. We screened three times until they could fully examine his spine. When he was cleared, I changed OB’s, and the new provider chose to scan us again. At 24 weeks we discovered enlarged ventricles. Doctors agreed Carter was at the large end of normal (11.4 mm), but I was referred to the high risk maternal fetal. Two weeks later Carter’s ventricles were now over 12 mm, so growing. This specialist was confident the “growth” was due to more high tech equipment and that our Carter was perfectly fine.
But, there’s mommy gut. I had horrid gut feeling that something was wrong, so I fought with the doctor to do another ultrasound. By the time he agreed for another ultrasound a week later, I had already scheduled a second opinion an hour and a half from my home.
Our second opinion was much more proactive, but not much more concerned. They mentioned that that they did not explore any rare genetic conditions, but guessed that was very unlikely since I had no family history of it. We went ahead and opted for appointments with specialists, one of which was a neurosurgeon. The neurosurgeon diagnosed Carter with communicating hydrocephalus and said he would not need surgery right away. They still all insisted that nothing major was happening. My Carter would be okay.
Instinct. My mother’s instinct felt differently. They continued to follow him closely with weekly ultrasounds and endless consults. I believe his ventricles were around 22mm by the time they delivered him (at 36 weeks). Once he was delivered, they followed up with an MRI. The MRI showed no corpus callosum (which we later found out he did in fact, have), and slightly enlarged ventricles. They also made notes of all other things that were different about Carter, including his thumbs.
Then they told us what so many of us L1 Moms have heard: he would be moderately mentally delayed, and would probably not be able to walk, talk, etc…
As I sit here watching Carter laugh and roll around now, these memories crush me… I feel like they gave up on him, before giving him a chance**. In the hospital genetics drew blood samples for testing. Chromosome analysis came back perfect first, and then I asked to test for L1. My mom actually took to google after Carter was born, and immediately realized that he had to have L1. The geneticist agreed to test, and his mutation was confirmed.
My mom and I were tested then after, and it was determined that we are both carriers.
So yes, L1 CAM Syndrome Babies with No Shunt can be found!
Was Different about Preparing for a Baby with L1 Syndrome than a Healthy Baby?
I was so worried about what could possibly be wrong, that I truly couldn’t enjoy my pregnancy. I didn’t prepare that much differently, because I wasn’t sure what to prepare for!
Were You In NICU? How was your stay?
NICU followed him for testing, so essentially he was “with them” for the 5 days that I was in the hospital. Carter was only physically in the NICU for 25 hours. After that, he was in the NICU Annex. Our stay was STRESSFUL!! If I could change my life career, it would be to be a parent advocate for people (new parents) in the hospital, whose babies are diagnosed with a disability. I felt stranded on a desert island and alone with no one to help me understand what was going on. My husband, Jay, didn’t know what to do. He was stuck trying to figure out what was going on while trying to make sure I was okay.
Carter does not have a shunt, correct? What is his life like related to not having one?
Carter is not shunted. His ventricles have grown as he has aged, but proportionally to his head growth. They followed him with MRIs until he was 3. At that point, they told us he has relatively the same chance of getting fully blown hydrocephalus, as does the general population.
How was life when your son came home?
Still challenging. Coming to terms with a diagnosis like we were given is hard. We weren’t sure who Carter was going to be. It took me about two weeks to put that energy into making sure that Carter had the best therapists behind him. By one month of age, he had therapists visiting him multiple times a week in our home. It was a very busy time with all of us, including both of our families, trying to figure out what to do and how everything was going to work out.
How was your son’s first year of life?
The first year was rough. I felt like every doctor we went to diagnosed Carter with something else. I would be lying if I didn’t say that it crushed me each and every time. He ended up being followed by developmental specialists, GI, neurology, ophthalmology, cardiology, ENT, neurological geneticist, and a geneticist. We literally had weekly appointments, all of which were an hour and a half away. Now, he sees the specialists one a year, which is clearly much more manageable.
What did you learn from those terrifying months that would help other mothers in your spot?
Please, please don’t believe everything a doctor says. Follow your gut and know your child. I have searched high and low for the best doctors for Carter- ones that matche our beliefs, and work hard for what’s in Carter’s best interest. I actually went through three neurologists, until we finally found the one we are with now. She’s amazing! She actually did a conference and presented Carter’s case. She showed pictures of his first MRI, and reported on what we were told in the hospital, and then reported on how well Carter was doing now. She used him as a learning experience. How many parents would have given up on Carter, had it been their child? I would hope none, but I’m sure what they told me would have pushed some over the edge. I’m not sure where I found my strength in those tough times, but if you are in those same shoes, find that strength and hold on. I promise that wherever your child ends up, he/she will be absolutely amazing, and perfect!
Jay says: We were told many times by a few different doctors, even after the bad news they had just given us, that kids’ brains are so “plastic” and have the ability to develop and mold in different ways. So, my advice would be to be an advocate for your child and make sure they have every opportunity to develop and grow to their greatest potential.
How is Carter now?
AMAZING!!! His expressive and receptive speech has never been delayed, but he does have some articulation issues that they are sorting out. He’s walking (although not so steadily), talking, running, jumping, etc… Every day he amazes me! He does struggle with a lot of different things, but I try hard to focus on how many amazing things he is doing. I feel so blessed that God chose me to be his mother.
Jay Says: After the news that we were given by the doctors, it amazes me every day to see what Carter can do. He is doing almost everything that certain doctors told us he would never do. He has such determination to do things and refuses to give up. He is becoming more and more independent every day and continues to make us proud to be his parents.