NavigatingLifeWithLMS

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Entering the world of special needs parenting can be a little intimidating. So many emotions go into it. For me, anxiety and fear run wild. When entering this world without a diagnosis, the emotions of the unknown are brutal. Having a diagnosis may bring a bit of relief, and when that diagnosis is of something so incredibly rare, you end up with more anxiety, hope, and love. Here is our simplified journey to a diagnosis of LMS (Lateral Meningocele Syndrome).

The first ultrasound

Our Journey began with a first screen ultrasound to determine the risk for common chromosomal abnormalities. On the one hand, having had four miscarriages before finally having my first child, I was a little nervous. On the other hand, I figured since I finally birthed a child, and I was about 14 weeks pregnant, chances were everything was going to be alright. Oh, boy was I wrong!

During our ultrasound, we were informed our baby had something called a “thickened nuchal fold.” If you’re anything like me, you are probably wondering what in the hell that is. Well, the nuchal fold is a normal fold of skin on the back of the neck. Turns out, when the fold is thickened it can be a marker for many different genetic issues.

Before leaving from the ultrasound appointment, I ended up getting an amniocentesis, and more than my fair share of tears. You would have thought my whole world was coming to an end. I suppose that in a way, it was. If I could have realized then how rewarding this journey would be, I would’ t have flooded that little room with so many tears. And I probably would’t have called my boss hysterically crying attempting to explain why I couldn’t make it into work that evening. I’m pretty sure he didn’t really understand a word I said.

Ultrasound results

Waiting for the results of the test almost killed me. I’m more of the type that needs to know as soon as possible so I can start making plans. Plans that I know will eventually get screwed up, but I have to make them anyway.

When we finally got the results, we were surprised, the results were negative for everything. That’s was great, or was it? What in the hell was going on with this damn skin-fold? Surprisingly, every ultrasound would come back with the fold staying the same size. Their only findings were hemi-vertebrae, a smaller upper head, and a narrow area for spinal fluid to flow in the back of her neck.

Meeting Kailanie

On October 27th, 2014, we headed to the hospital. Early the next morning, we finally got to meet our sweet girl, Kailanie. Upon her arrival, my doctor found that she was on a very short leash, meaning her umbilical cord was super short, and incredibly thick. Doctors had noticed her little chin and slanted ears. She also seemed to have a spot on her back above her kidneys that flared out when she cried, but she was healthy…and that we were extremely grateful.

Kailanie was born 5lbs 13oz and 19 inches long. Unlike most kids we know with LMS, Kailanie came home without a trip to the NICU. In fact, she didn’t even make it back to the hospital until after she was a month old. By that time, Kailanie was’t gaining weight as she should be, or hardly any at all. While giving her a bath one night, I noticed she had a cleft palate. It looked like a skeleton key hole when she cried. My thought on that was somewhere along the lines of WTF is that? It turns out it was something that would keep haunting us even after it was fixed, and cause severe obstructive sleep apnea. We will revisit the sleep apnea in a different post due to the lengthy amounts of BS involved.

First hospital admission

Kailanie was admitted to the hospital for failure to thrive shortly before she was two months old. While in the hospital, a doctor had noticed her umbilical cord stump was still intact. Since her cord had yet to fall off, an ultrasound was done it to make sure there weren’t any fatal issues. Yeah, you read that right, I said FATAL! Imagine the look on my face when I was told that it could be fatal…..as if my preexisting anxiety wasn’t enough. The results came back that everything was fine; although we were not told this until the next morning (insert my angry face here). Then, after a swallow evaluation and the placement of an NG-tube, she was discharged and home we went.

The NG-tube

At about four months old the NG-tube became a G-tube. That would be the first of many surgeries for our sweet girl. After a while, Kailanie began to have a lot of vomiting and holding her breath. All the vomiting and turning colors resulted in numerous trips to the ER for possible aspiration. You better believe everyone in the house, including my sister and her two boys, were skilled at grabbing burp rags and the bulb syringe at the slightest gagging noise from our little princess. Needless to say, we had to parent on expert a majority of the time.

The real fun begins

At a regular six month check-up, Kailanie’s head went from really low on the graph to the 95th percentile. An MRI was ordered, and that opened the door to a whole new world. Our first explanations of the results weren’t very clear. We were told her ventricles, whatever in the world those are, were extremely full of cerebrospinal fluid (CSF). Again with the horrible mom anxiety, which brought us to the ER to figure the story on the ventricles. In non-medical terms, CSF is produced inside the ventricles, and if they become too full it’s not good.

While in the hospital, Kailanie was assigned the most amazing neurosurgeon, Dr. Sayama. Then, the bomb was soon dropped that our sweet girl had something called a Chiari Malformation, meaning her brain was basically growing into her spinal column. I had no clue that was even a thing. This all sounded great (insert sarcastic face here), considering she also needed a a hole drilled to drain the extra CSF. The initial hole without a shunt didn’t work and she ended up with a shunt. We also found out, numerous meningoceles, or CSF filled cyst like things, weaving in and out of her vertebra. Thinking that does not sound very fun? I assure you, it most certainly was NOT!

Since Kailanie had an excessive amount of meningoceles, the most Dr. Sayama has ever seen, she decided to research the cause of Kailanie’s meningoceles on her own time. Right before genetics sent blood for an expensive test to cross-reference Kailanie’s DNA with her dad and me, Dr. Sayama stopped it on a hunch that Kailanie had Lateral Meningocele Syndrome. (Lateral what?! Try saying that three times fast)! Then, to our surprise, a couple of weeks later that hunch turned into a diagnosis. Not only did Dr. Sayama find our diagnosis, she also wrote an article about Kailanie (that article can be found here).

It’s all so clear to me now

After Loeys-Dietz syndrome and Stickler Syndrome had been ruled out early on, Lateral Meningocele Syndrome seemed to be our final verdict. All of a sudden the pieces seemed to come together. Low muscle tone, loose joints, and all other symptoms, including some not mentioned in this post, fit into one loose cannon of a package. Anxiety and fear of the unknown are constantly present in the background, waiting to pounce without a moment’s notice.

From that moment on, we strive to embrace life with a lot of deep breathing, positive thoughts/energy, meditation, hope, and love as we attempt to navigate life with LMS.

DON’T FORGET!

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