Back and Forth... Back and Forth

What a roller coaster.

To make this post simpler I am going to refer to our doctors so far as such: Dr. Mesa is the first surgeon we saw, who thought surgery was very likely; Dr. Dallas is the "expert" I have referred to that we will be seeing later in April; Dr. Phoenix is a doctor I have wanted to see who has been recommended to us by a few sources.

So here is a recap of the last few days. Tuesday I called Dr. Mesa's office, left a message, but did not hear back. Wednesday I called Dr. Mesa's office and left another message. His assistant called back and said she had talked to him but he had not been able to tell her anything because he was on his way to the OR and she didn't know when I would hear. In the meantime I called our insurance to see if I could get a second opinion. They said I could as long as it was a doctor in network. So I called Dr. Phoenix's office and lo and behold they could see us today (Thursday).

Later on Wednesday Dr. Mesa himself called. He said that he had consulted with the neurosurgeon he works with and they both agreed that Claire does not need surgery. He said they felt there was enough room in her skull so that we did not have to worry about her brain. BUT, he said that he wants to see her at the end of April with the neurosurgeon so they can get another look at her and be sure. They would also want to see her every 6 months until she is 3, and then every year until she is 5.

So far, every single step has turned out exactly the opposite of what we expected. The first time we saw Dr. Mesa we expected him to say she was a very mild case and didn't need anything. Then he said probably surgery. Then we sent the letter and tests to Dr. Dallas and fully expected him to agree and say she needed surgery. He said she probably didn't need surgery. Then we expected to hear back from Dr. Mesa to say he wanted to schedule surgery but he had changed his mind.

For our appointment today we expected to hear another vote for no surgery. Can you guess how it went? Two doctors came in, Dr. Phoenix and a woman. I don't know if she was resident or what. They started looking at her head and noting the abnormalities associated with her fused suture. He said she does not fall on either end of the spectrum; she is neither mild nor severe. He said that if there was a line for doing surgery that she is right on it, possibly just over it toward surgery. He kept kind of shaking his head and saying how borderline she is. I brought my list of a million questions and he patiently answered all of them. This post will drag on so I'll post them another time. He seemed knowledgeable, he answered our questions very well, and we definitely liked him. We certainly felt much better about Dr. Phoenix than we did about Dr. Mesa.

Dr. Phoenix said that because the case was so borderline we would have to make a decision about what we would like to do. He said that we could wait as long as we want to make the decision. I have usually heard that the surgery is best done before 10 months of age but he felt otherwise. He said that her head is unlikely to change much. He said that they like to see the forehead come out a little farther on the side so that there is not an indent above the brow bone. Hers is just a bit short due to the narrowing of her forehead. It's a bit hard for me to explain without showing.

Ultimately, according to Dr. Phoenix, we are in the dreaded gray area. He did not tell us what to do. It is our decision. We talked about the cons of not doing surgery. He said that her frontal lobe is being pinched by this condition. If there is a problem in a part of the brain that controls motor function, the effects would be obvious. It is not as straightforward with this part of the brain, which controls things like personality, decision making, self control, social behaviors, etc. There aren't as good of measures for this, especially in infancy. We discussed some medical journal articles I have found recently which talk about incidence of learning disabilities, developmental delays especially in speech, and behavioral disorders in children with metopic synostosis. These children experience these issues with greater frequency than "normal" children. And that scares us, obviously. These issues all "make sense" as the frontal lobe is involved in all of those functions.

We also brought up the opinion from Dr. Mesa that there is enough space. Dr. Phoenix said that "enough space" is not the issue. The way he explained it is that the fact that her forehead is as narrow as it is means that her brain is being restricted in that area and is growing in other areas, explaining the wideness at the back of her head.

So what do you do when a decision like this is left up to you? It's borderline, what do you do?

What if we see Dr. Dallas and he still thinks she does not need surgery? Honestly that is a major fear right now. Then what?

If Dr. Dallas says she is borderline or does need surgery then we will do it. If not, we can't answer that question right now. We really trusted Dr. Phoenix and he made us much more confident with the idea of having surgery locally if needed. But we certainly have not made that decision either.

The last thing I asked the doctors today is what they would do if Claire was their child. They both answered without hesitation that they would have the operation.

We Got an Appointment!

First, apropos of nothing, I've been doing some hourly, contract work for my old company several hours a week. It's been a little from home, a little at the office, and it's been nice to use my brain in a sciency way and get out of the house once in a while.

Now, on to the important stuff. I had emailed the doctor in Dallas again with a couple more questions and I asked him if he would see Claire. He answered my questions and said he would be happy to take a look at her.

I also emailed two people in his office. One was to find out the cost of a consultation since I know our insurance won't cover it. I heard back from that person who told me the cost is $75!! Yay! I was totally expecting it to be at least a couple hundred dollars. I had also emailed the scheduling person to find out what kind of wait time there is to get in but that person never wrote back.

So yesterday I called the office. I talked to a very sweet lady who confirmed that the appointment will be $75 (but that they recently changed it and it used to be $300!) but told me they had no openings until June! Ugh, my heart sank. I don't know if she heard the disappointment in my voice or knew that June was after the boundary for the best time to do surgery (before age 10 months) but she told me she was going to talk to the scheduler and the doctor and get back to me. She didn't say anything about trying to squeeze us in but today she called back and offered an appointment on Good Friday, April 22nd.

Hooray! Now we can get this show on the road and talk to him in less than a month! I've been checking out airfare and hotels so I can get that all arranged. In the mean time we are still waiting to hear back from the local surgeon. Does anyone else think it is ridiculous that I have sent stuff to the expert guy twice and heard back from him twice and now scheduled an appointment without hearing from our own doctor once?! Ridiculous. We are just going to proceed as though we will follow the local surgeon's recommendation and hope that it will trigger a requirement of a second opinion because we would also like to talk to one of the other local surgeons. It would be nice if we could talk to both of the local doctors before going to Dallas but at this point that looks unrealistic.

Thanks for checking in, I will update again whenever I know anything else.

Finally, An Email

I finally heard from the surgeon in Dallas today. He is the one that is widely recognized as the world's expert in craniosynostosis. Here is what his email said:

Dear Kyle and Jill:

I reviewed the pictures and CT you sent of Claire. Although looking at pictures is not the same as performing a physical examination, I am happy to share with you my impressions. I can see that your daughter has a fairly prominent metopic ridge, however, I do not see any obvious trigonocephaly. The metopic suture normally begins closing in the first year of life and can sometimes form a very prominent ridge.  These ridges go away completely on their own, although it can take many years to do so. Looks like you have a pretty normal child to me. Once again, I hope you will understand that looking at pictures and a CT scan is not as good as performing a physical examination, and it is really the examination upon which I base the decision to operate (kids need to have more than very mild trigonocephaly for me to consider surgery). Please let me know if you have any other questions.

I wish we could say that we feel a deep sense of relief but it is not that easy. When we went to the first appointment with our local surgeon we fully expected him to tell us that Claire did not need surgery. We were both shocked and dismayed when he told us she probably did need surgery. After he explained what could happen if she did not have surgery we knew we wanted to do it, if it was necessary. And now we are faced with hearing an opinion that was not what we expected.

You might think that we were hoping to hear from the surgeon in Dallas exactly what we heard. But again, it is not that easy. I trust his opinion above all others but those little words in his email still worry us; the pictures and scan is "not the same as" and "not as good as" an examination. I know to an extent he is saying that because he has to, to cover himself. But it leaves room for that fear to be there.

So where do we go from here?

I called her local surgeon today to find out when we could expect to hear from him. The phone call did not inspire confidence, if I had any to begin with. The surgeon's assistant told me that she found Claire's file on his desk. He has the scan and the report. She said he had started to write some notes on it. The she said, "Honestly, I can't really read it. Something about her head and something about another doctor." Gee, that was helpful. Then came my favorite part when she said since her scan was on the 9th it seems her file "slipped through the cracks" so she put it on top of the pile. I know this is often how it goes with doctors and you always have to be vigilant and follow up, but still... She called back later to say that he is waiting to consult with the neurosurgeon who would be involved in the surgery but the neurosurgeon is out of the office since last week and they don't know when he gets back. So I will hear from them. Some day.

Our plan is to meet with the local surgeon and hear what he has to say. If he recommends surgery and goes to the insurance company to get approval I am hoping they will ask for a second opinion so we can see the other local surgeon, the one we have references for. This other local surgeon did a fellowship with the doctor in Dallas so that makes me feel a little better about his opinion, even if I have doubts about his techniques.

We are also seriously considering a trip to Dallas to have an actual examination there. Then if the doctor still thinks she does not need surgery, we can relax about it once and for all. That may sound crazy but we are feeling a bit uneasy about having conflicting opinions about our child's skull. As I said, I trust the Dallas surgeon's opinion above all others' but I agree with him that an in-person evaluation is important for him to give his best opinion. I also plan to email him back with some questions we have and to see if he even thinks it makes sense for us to come.

As always, we will let you know when we find out more.

Still Waiting

I've had quite a few people checking in about Claire. Unfortunately we are still just waiting. We haven't heard from our local surgeon or from the surgeon in Dallas after Claire's CT scan last Wednesday. I was really hoping to have heard from especially the guy in Dallas because I know some people have gotten very fast responses. But I guess I will just have to try to be patient!

I don't really have anything else new to update. Kyle's mom and dad are visiting for spring break so we are looking forward to Claire basking in adoration for the rest of the week!

In the meantime, while we all wait, I think we can all agree that a cute picture will make us all feel a lot better:

CT Scan

Claire had her CT scan today. I was worried there would be a glitch with the insurance approval since we are still dealing with pre-existing condition requirements when she and I switched to Kyle's insurance after I lost my job. Luckily everything was approved when we got there. We wrote a check that took care of our whole deductible (yay?) and we were off.

The lady who performed the scan was telling us about how she would be strapped down, and she might cry, but it would be quick, etc etc. She went on and on about it as though we were going to freak out. Sure, I hate to see her cry but I knew it would be quick and I'm thinking big picture here. Seriously, she would not stop going on about it so finally I just said, "Yeah, this is the least of our concerns right now." She was very nice and I wasn't rude but really I just had to have her stop talking about it.

And scream she did, as I anticipated. She wanted no part of being made into a burrito and strapped down. But it was quick and then she calmed down right away. We got a disc of the scan and were on our way. When we got home Claire slept for three hours. I guess it was a bit of an ordeal for her.

I was really disappointed because other kids' CT scans I have seen are one lovely 3D image that clearly shows the sutures. Our scan was a series of single images of all different planes of her head. Looking at any one image doesn't mean anything to me so I guess I'll have to leave that to the experts. I planned to post it on here so I was bummed.

So the next step is that we wait for the images and report to be sent to our surgeon and then I assume they will contact us for a follow-up appointment. I absolutely hate waiting and the powerlessness associated with it.

I am also sending the images with a letter and some photos of Claire to a surgeon in Dallas, Texas. This doctor is pretty much the world's expert on craniosynostosis. He gives free consults by phone or email and will tell you what he would do whether you are going to choose him for the surgery or not. Pretty cool.

I am very interested in his opinion, but if Claire needs surgery I am also extremely interested in having him be the one to do it. There are tons of reasons why, which I will have to explain in another post. Suffice it to say that every fiber of my being (call it mother's intuition) is telling me to do everything in my power to make it happen. Unfortunately, it will be a fight to make it happen. There will be insurance and financial issues standing in the way but I am determined. There would surely be an insurance appeal to get his services covered. If she needs surgery, I at least have to try. So I'll be off to FedEx tomorrow morning to send him our scan results. And then more waiting to hear from him. Did I mention I hate waiting?

CT Scheduled

I was thrilled to get the call this morning that I could schedule Claire's CT scan! We are set to go for Wednesday. I'm so glad I could get her in so fast. Let's get this show on the road!

Claire turned 8 months old yesterday! Here is a picture I took today for fun. I love a baby in overalls (and Vikings socks!):

Q&A and Pictures

First, thank you all so much for your emails, blog comments, and facebook comments. It is so nice to know that there are so many people keeping Claire in their thoughts and prayers. This is one of those times that highlights how it is difficult for us to be so far away from "home".

There were a few questions and comments about craniosynostosis that came up a few times. One questions was "How common is this?". The most common cranio type involves the suture running down the middle of the back of the head, leading to an elongated and tall head shape. It occurs in about 1 out of 2,000 births. Another type involves the suture running down one side or the other. It affects about 1 out of every 2,500 births to 1 out of 3,500. I would say it is the most visually striking because the head will expand on the opposite side of the closed suture giving a very asymmetrical shape looking at the face. The metopic type that Claire has also affects 1 out of 2,500 to 3,500 births. A really rare type, thought to be about 1 in 50,000 births or less, affects the sutures low on the back of the skull.

Another question is whether we can connect with anyone else who has gone through this. A couple of our friends have mentioned that they know someone whose child has gone through this. I also found an online forum called Cranio Kids. It has been great for me! Parents from all over the world, as well as adults who have had the condition, get together on a message board to exchange stories, information, doctor and hospital recommendations, and of course support. It has been a great place for me to learn and "meet" people who know exactly what we are going through.

Before meeting with the surgeon we thought we would be in the clear because we read this on the website of a major craniofacial center:

"Many children may just have a ridge running down the center of their forehead suggesting that the metopic suture has closed early, however, without producing the triangular-shaped forehead.  Only those children who have overt trigonocephaly need treatment.  Children with an isolated ridge running down their foreheads do not require surgery."

We thought for sure that Claire would fall into that category, because to us her head looks mostly normal. I guess that is why we are not specialists and who knows exactly what "overt" means in this case anyway. But the same website also says this:

"Sometimes it can be very difficult to determine if a child has significant trigonocephaly, or not."

So, we will have to wait and see. That has been so hard. I hope to hear from the imaging center by the end of this week so we can get the appointment scheduled. There was a delay in getting a report from her doctor and if the insurance company requests the report it will set us back quite a while.

We have also been asked where the surgery will take place. This is an ongoing source of discussion and will require a post all its own. If we need surgery this will be a very big decision and will also depend on the other opinion(s) we get.

Finally, I'll post some pics of a typical, severe case of metopic and some pics we took of Claire's head in comparison.

Here is a typical picture of trigonocephaly that I stole from the internet:

Here is a picture of Claire from overhead:

At first I thought this picture showed a perfectly round head but the more I look at it I think I see the triangular shape. Obviously not as clear cut as the pictures above.

Here is a close-up of the ridge that has always been present, although I feel that it has become much more prominent, possibly a bad sign:

The ridge is surrounded by her stork-bite birthmark. I wonder if having the ridge contributed to those birthmarks (which are very common though). Also, can I just point out those beautiful blue eyes? At eight months old it seems that they might be here to stay. With Kyle and I both having brown hair and eyes I can say that I never pictured our baby this way! But I always wanted a blue-eyed baby!

Anyway, I could speculate about her head shape all day. And believe me, I do. The bottom line is that we won't know more until we have the CT and get another appointment with her surgeon. I just see this dragging on forever and it stinks.

Welcome and Claire's Diagnosis

Thank you for coming and learning about Claire's diagnosis. I think this will be the easiest way for people who are interested in what's going on with Claire to stay updated.

We had an appointment in mid-February for Claire to get a flu shot and discuss her continued dairy issues at her pediatrician's office. While there, her pediatrician noticed the vertical ridge on her forehead. The ridge is something Kyle and I had noticed since birth but not thought much about. The pediatrician said that she would like us to see a plastic surgeon about it and that it could have to do with the bones in her skull fusing prematurely. Honestly I planned to follow up on it but thought it was no big deal. Later that night we started to get worried and started googling.

By the time we were set to see the plastic surgeon we were pretty convinced that Claire had metopic craniosynostosis (said like: muh-TOP-ic CRANE-ee-oh-sin-oh-STOW-sis), but were also convinced it was very mild and would not need any attention other than possibly becoming a cosmetic issue for Claire down the road. The appointment was on February 28th and the surgeon confirmed that Claire has craniosynostosis.

He explained the condition, much of which we already knew thanks to our research. When you're born your skull is not one piece but is made of several bones. The bones are separate to allow for the rapid growth of the brain during infancy. The areas between the bones of the skull are known as sutures. The suture between the two front-most bones is called the metopic suture. The metopic suture normally closes between 3 and 9 months of age. Claire's metopic suture closed before she was born. No one knows why this happens but it could be due to her position in the womb. When a suture closes, the brain cannot grow properly in that area and the brain and skull compensate by growing abnormally in other areas. This causes an abnormal skull shape. It can also cause too much pressure on the brain which can lead to seizures, blindness, developmental delays, and other problems.

We do know that there is not elevated pressure in Claire's skull because her fontanelle (soft spot) is not bulging. We are also very happy that she has met all of her developmental milestones on time so this condition does not seem to have affected her development (yet).

When any other suture closes, or more than one is closed, surgery is always needed. But for the metopic suture it is more of a gray area. Some children just have a ridge like Claire's and their skull is really not otherwise affected. In that case surgery is not needed. We thought that this would be true for Claire. However, it can be difficult to determine the extent that the skull is affected. Kyle and I were actually quite surprised and sad to hear the surgeon tell us that he believes Claire will need surgery. He pointed out some features to us such as pinching at her temples, slight bulging above her ears, and slight widening of the back of her head. These characteristics are called trigonocephaly because of the triangular shape the forehead takes on. For many children there is a very pronounced triangular shape and their forehead looks like the bow of a boat from an overhead view. Claire's is not quite so noticeable. The doctor ordered a CT scan so that we can have a better idea of the effect on Claire's skull and brain.

We are currently waiting for approval from our insurance to have the CT scan. At that point we will know more about her prognosis. Because her craniosynostosis is the metopic type, we could have a difficult decision on our hands. If surgery is needed it will probably be before she is ten months old. That would be within the next two months. We plan to get at least one other opinion once we have the CT scan.

Right now our minds are going in a million different directions, we are scared, we are worried, and we just wish we knew what to expect. We are grateful that Claire is alright and we know that there are much worse diagnoses we could have received. However, the prospect of having her skull removed and reformed is more than just a little unsettling. We are looking forward to knowing for sure what we will do and moving forward. For now, my job search is on hold and I will remain unemployed until we can get this taken care of.

We will use this blog to keep people updated as to what we have learned and where we are headed with this. It doesn't seem likely but maybe in a few weeks I can just say, "We don't need surgery! Blogging done!" We'll see. Please feel free to leave any messages or questions in the comment section.

-Kyle, Jill, & Claire

P.S. If you want more information the wikipedia article for craniosynostosis is actually quite good.