Last week we got word that the insurance company approved the genetic testing for Sebastian. Of course I imagine at least some of it will end up going towards our deductible, so we'll probably have to pay. But at least they approved it which means if he needs further tests done relating to this after we've met the deductible, then they should be covered, so this was good news indeed! The geneticists office called right away and let us know it was approved and that we could bring Sebastian in anytime for the test.
Last time Sebastian got his blood drawn he was about a year old and daddy took him to do it since I was afraid I'd be a nervous wreck. It was for a large blood panel where they were testing him for a variety of things (thyroid, allergies, blood count, etc.) so they needed several vials of blood. Unfortunately it was at a regular LabCorp location where they did not have much experience on babies. It took them a couple of tries and poor Brian had to hold Sebastian down while he screamed and cried. I was very sad for him and thankful I wasn't there since I would not have handled that well.
This time, I offered to go with them but knew I would definitely be a nervous wreck after hearing those stories, and I'd hate for my fears to make Sebastian scared. So nice, calm Brian bravely offered to take him by himself again. But apparently I had nothing to fear. OHSU has phlembotomists with lots of experience with children so they have this down. Granted Sebastian is 2 years older than last time and they were drawing quite a bit less blood, but still it sounds like they knew what they were doing. They did the blood draw super fast, Sebastian flinched but didn't cry, and then they gave him 2 new books to take home. (Distraction is often a magic cure for small children.) Sebastian has talked about the experience several times with Brian and I without any sadness or fear. He says it hurt but referred to it this morning as "the doctor scratched my arm". I asked him if he cried and he says "nooo" with a giggle like that's a funny idea. What a tough little man we have on our hands. I'm so proud of him.
Results can take about a month. So now we wait...
Geneticists Are Smart
Last Friday we took Sebastian to his first appointment with a geneticist at OHSU (Oregon Health & Science University). First I have to say that this place is pretty amazing. My first thought when I heard it was a university was oh great. At UNR if you went to the student health clinic, you had to wait all day to see a doctor who was still in training. They'd awkwardly examine you and then say "yeah I'm not sure what's wrong with you." After looking it up and talking to people in the area, I learned that OHSU is nothing close to that, but is actually a very popular research hospital with many of the areas best doctors. It turned out that our experience matched what we heard. It was a very good appointment and we were dazzled by the geneticist and how much she knew about this particular disorder (without reading off any paper like the neurologist had to). They also had a genetic counselor in the room who's main purpose seemed to be to help translate many of the terms the geneticist said that we did not know. They were both very nice ladies who were of course smitten with Sebastian.
The geneticist confirmed that Sebastian meets the criteria for having Neurofibromatosis. With his symptoms, there's a 90% chance he has it. Thankfully that was the worst of the news. The rest was lots of good news.
The only other piece of bad news was, once they do the DNA test, it takes an entire month to get results back. But still, at least we should know something for sure in the next couple of months. In the meantime, we will stay positive and off of google. :-)
The geneticist confirmed that Sebastian meets the criteria for having Neurofibromatosis. With his symptoms, there's a 90% chance he has it. Thankfully that was the worst of the news. The rest was lots of good news.
- They agreed we need to do the DNA test to be sure. This test will not only test for NF-1 (Neurofibromatosis Type 1), but also SPRED-1 (also called Legius syndrome) which is a condition that has many of the same symptoms, minus the tumor growth. They are discovering more and more people with this one all the time, so here's hoping!
- They are good at getting insurance companies to cover this test. They are submitting all of the necessary paperwork and we should hear back in about 2 weeks hopefully.
- They have phlebotomists (people that draw your blood, a.k.a. vampires ;-)) at OHSU that are very good with children and know how to make the blood draw experience not traumatic.
- Even if his test does come back positive for NF-1, the geneticist does NOT recommend or require regular MRIs unless he develops other symptoms. This is the opposite of the Neurologist who wanted to order his MRI right away. We were very pleased to hear this. First she will recommend an eye exam, where they will be able to see if he has any tumors on his optic nerve (one of the symptoms of the disorder). If they do see something, then he will need to get an MRI. But at least the eye exam will be a lot less invasive (and less expensive) than an MRI.
- They agreed he is not showing any symptoms of learning disorders or tumors.
- Of people with NF-1, only about 15% experience tumor growth, and of those people, only a small percentage actually require surgery. So it sounds very likely that he could go his whole life without ever actually having a problem from this disorder.
The only other piece of bad news was, once they do the DNA test, it takes an entire month to get results back. But still, at least we should know something for sure in the next couple of months. In the meantime, we will stay positive and off of google. :-)
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.
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.
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