Disclaimer: The below post I wrote out of the utter frustration I am currently experiencing with our health care system. I am indeed quite t...

Neurotic Has Neuro In It

Disclaimer: The below post I wrote out of the utter frustration I am currently experiencing with our health care system. I am indeed quite thankful to have access to adequate health care at all, so please do not misinterpret my comments as rude or ungrateful. I do not mean to offend, just to simply get these thoughts out of my head.

There are so many amazing things about being a parent. Doctors are not one of them. When you're pregnant all you wish to hear is that your baby is healthy, and you think once you have a healthy baby, you won't have to worry so much any more. But that's a lie. You will worry forever. Especially if you're like us, and you haven't had a good check-up from your pediatrician since you're kid was 6 months old. First it was he's not growing fast enough. They did every test you could think of, at least that's what I thought at the time. After months of doctors and tests they found nothing and concluded Sebastian was fine, just small for his age. Which is what we told them to begin with, but clearly doctors are the all-knowing gods of the universe and us parents can't possibly know how our own children are doing. After a year and half of staying home with Brian and only going to short preschool classes and no full-time bacteria-infested baby daycares, Sebastian has finally caught back up with the growth chart. So for once, I actually had no fears about his well-check. I even stayed at work and had Brian take him to his 3 year check-up alone. But alas, I was naive.

Instead of hearing the words we all crave to hear, "your child is perfectly healthy", we were confronted with a new vocabulary word. One the pediatrician did not take the time to explain but instead left us with a list of doctors to go see, all of which want referrals and health records, and 2 weeks to 2 months to even return your phone call. No, instead Brian was told "we think Sebastian may have Neurofibromatosis."

Neuro- what did you say? Neurofibromatosis. Google it and you will possibly burst into tears the way I do everytime I think about it too much. Since we were left with no answers, only questions we never thought we'd have, we turned to everyone's favorite research assistant, the Internet. Of course that is not the most accurate and certainly not the most reassuring place to look, but at least we learned what it was and how bad it could be. First on the list of doctors that we could actually get into see was a Neurologist. She confirmed the pediatricians suspicions and said she thinks, according to her check-list that looked like it was printed from the same articles we read online, Sebastian does have neurofibromatosis. The only thing we learned from her was that if he gets a tumor (yep tumor!) then it will be a slow-growing one that won't do much damage for a long time, giving them plenty of time to operate, if necessary. Also that Sebastian is a very intelligent child who is not showing any signs of learning disorders or brain tumors (which are both symptoms). But that she wants to do a brain MRI to make sure. And since a child can't sit still for a 45 minute MRI until he's 9-12 years old, he will have to be under full anesthesia in order to do this.

That was when my world started to really crumble. Everything I thought I understood about what was expected of me as a mother, about how to take care of my child, how to keep my life balanced and happy, all of it has all been ripped out of me and replaced with complete doubt. The kind of doubt you're not sure will ever go away, not with a diagnosis like that. I keep reminding myself that anyone at anytime can grow a tumor for any reason, and there's nothing any of us can do about it, so really, we shouldn't worry at all. And that worrying, of course, does absolutely nothing to help the situation. No matter how much I tell myself those things, it hurts the same amount. If I keep my mind distracted with something else I'm ok. But it's hard not to think about it when I spend a good chunk of time several days a week on the phone with STUPID doctor's office's trying to navigate the maze of complete SHIT that is our health care system. Everything needs a form. No one can do anything without a form, and no one can do anything for 30 fucking days after they get the stupid form. And one place they want us to go is switching to a new electronic system and they are "weeks behind on scheduling" as their message says when you try to call. We called in October and still haven't heard a word. That's a lot of weeks.

Next on the list of doctors we finally navigated successfully into getting an appointment with is a geneticist. There is a $1000 genetic blood test they can do to test for the gene that causes this disorder, and therefore be sure this is what he has. The neurologist made it sound like this isn't really necessary since he meets 2 things on her fancy checklist criteria. His symptoms that meet this by the way, consists of him having more than 6 cafe au lait spots (basically large freckles of which he does have many), and freckles in his groin area (of which he has a couple). The other symptoms on the checklist are things like tumors, freckles in the eyes, lumps on his skin, etc. of which, as far as we know, he has none. The more our good friend Google has told me, the more I feel, despite the outrageous cost (insurance might cover it), that we should do this test to be sure. There are several other things on the list that can cause cafe au lait spots, one of which is "idiopathic" meaning "arising spontaneously or from an obscure or unknown cause", aka there's nothing wrong with him (my favorite option). Maybe I'm being naive again, or just hopelessly optimistic, but I think it would be prudent to make sure he actually has this disorder before we go putting him through a bunch more tests and doctors unnecessarily. I can't help but think the healthcare system is all a giant conspiracy to suck money out of you. Seriously people, this is all over some freckles.

A person with this disorder has a 50% chance of passing it to their kids. 30-50% of people with this disorder develop it spontaneously, and the rest were passed the gene from their parents. Meaning if he has this, there's a good chance that Brian or I have this disorder and are completely unaware of it. In one way I would feel better if one of us had it, because that would mean we've made it this far in life without having any problems, so I would be less concerned about how severe this can be. However, they say the severity can be drastically different from one person to the next, even within a family. And that would also make our decision to keep trying to have another child a difficult one. Do I want to bring another kid into the world that might have health problems his whole life? Do I want to bring, even a healthy child, into our family where we're stressed out and trying to deal with our first child potentially having health problems? It's all a bit overwhelming, so the urge to reproduce has been put on hold until we know more about what's going on with our little man.

Sebastian is still amazingly happy and healthy, despite all this bullshit. Obviously he doesn't quite understand what's going on, and we haven't tried to explain it to him since we don't really know what's going on. But he makes it so much easier to deal with since he continues to be happy no matter what. He can always make me smile through my tears.


  1. Melanie, first of all, Sebastian is ADORABLE! Second of all, you are right to be having all of these feelings that you are having, third of all, get off google (hahah!).
    You are also correct about being worried about your child forever! Since Lila was diagnosed with developmental issues, 10 months old, and at 4 1/2...cerebral palsy, it seemingly never ends. We have good weeks and bad weeks.
    What I can say is that doctors DO NOT KNOW ANYTHING!!! If it is something they see everyday, then ok, run with it. However, Lila is not the typical cerebral palsy, so we get terrible advice from the doctors, as well as misdiagnosis for 2 years straight.
    Call me and we can talk more...don't want to rant forever. Lindsay can give you my number of you are interested.
    Also, do the gentic test before the MRI. The MRI is super tough to put them through and it may not even be necessary. Genetic testing is easy :-)

  2. Thanks Maria! We will definitely be doing the genetic test. The first appointment with the geneticist is Jan. 4th, so we'll know more after that! Hope Lila is doing well!