The Diagnosis

My son, Sam, has been a heavy snorer from birth.  I never thought much of it.  He also walked slightly late, talked a little late, and has a pretty strong vision correction.  But all of this was well within what could be perfectly normal.  About a year ago (early fall of 2010) I walked in to his room while he was asleep and heard him gasp for air.  This is where this journey begins.

I decided that perhaps his snoring was apnea related and decided to bring it to the attention of his pediatrician.  As is par for the course, she referred him to and ENT, who also par for the course recommended a sleep study and indicated his recommendation would probably be to remove Sam's tonsils and adenoids.  The sleep study came back showing apnea.  All of this was pretty normal, except that when the ENT was reading the sleep study results he was just kind of talking out loud to himself and said something about half of the apnea being obstructive and half not.  I asked him what he had said and he kind of dismissed my question and said if I had other questions I could get an appointment with a sleep doctor.  I felt like I was missing something, so I asked for a copy of the results as I was leaving their office.

After arriving home I studied the results and found that Sam's apnea index was in the range of 14 events per hour, and they classified half of them as obstructive and half as central.  Not knowing the difference I began to research and found that basically obstructive apnea is what most people have.  Something is getting in the way physically when you attempt to breath.  Central apnea occurs when the brain fails to tell the body to take a breath.  As I started to look at the reasons central apnea exists all I could find was that it was related to adults that have had heart failure or strokes, or if it was found in children it was related to major brain disease.  Being confused at this point I called our pediatrician and discussed all this with her.  She said that 10 year old boys who are healthy just don't have central sleep apnea and that she had never had a patient with it.  Her feeling was that it was a misdiagnosis.  Perhaps the adult machinery they used for testing was not sensitive to reading a child's impulse to breath.  She said not to worry about it at this point.  We should have the surgery and then have a follow-up sleep study and she would completely expect the results to resolve themselves.

Early in the new year of 2011 we had his surgery done.  Everything went fine.  We went to our followup visit with the ENT and the surgery looked good.  I asked about having a followup sleep study and he said that surgery was over and his part in this was done.  I would have to ask my pediatrician.  I placed a call to her and she scheduled the study.  We had it done in May.  Two weeks later the pediatrician called me and said it still showed some obstructive and central apnea.  Again she assured me that it just couldn't be right because healthy 10 year olds just don't have that, but she would check around with some sleep specialists and confirm that it was a misdiagnosis again.

Two days later she called me back and said she had spoken with a pediatric neurologist in Peoria that specializes in sleep and that after looking at the test thought there may be something to it.  She wanted to see us and had an appointment scheduled for the next Tuesday.  At this point I was beginning to get nervous but still entirely expected to have her tell me this was a strange case and he would need a CPAP, but that was all.

She spent 2 1/2 hours examining Sam and talking to Greg and I.  She said that he has some cranial-facial abnormalities and that the obstructive apnea still exists simply because his throat is just too crowded and was collapsing overnight.  He would need a CPAP and she would like to set a sleep study to fit it for the coming Thursday night.  She also said they were all very subtle clues to her but she wanted to get an MRI just to check out the brain structure.  Seeing as the visible parts of his head structure were crowded she had a feeling the interior could be crowded around the base of his brain as well.  I had already done some research and had a clue to what she was talking about, but asked her what she was looking for.  She confirmed she was looking for a Chiari Malformation.  To put it in it's most basic terms, it means the lowest part of the brain, called the tonsils, hang lower than they should and often become compressed by base of the skull.  She said all of the slight late starts in his infancy, and some present muscle tone issues, as well as other signs made her want to take a look.  The MRI was scheduled for Friday morning after the sleep study.

I expected to hear back somewhere in the next two weeks on all of this, so I was immediately alarmed when I saw a call from the neurologist that same Friday afternoon come up on my caller ID.  She was calling me to let me know that Sam did have a severe Chiari Malformation Type 1.  She said she was really very surprised at the strength of the diagnosis based on the child she had just met.  She would have expected him to be much worse off.  She had already gone over the results with a pediatric neurosurgeon and he would be calling me later that afternoon with an appointment.  When that call came they had scheduled us in for the coming Wednesday.

In the meantime I did some more research and found that the routine surgery for this is called a decompression.  They basically remove the lowest portion of the base of the skull to allow room for the herniated brain tonsils.  Sometimes, if more room is needed they remove one or two of the top cervical plates, or remove a small piece of the skull higher up and place a protective membrane in that area.  I went in to the surgical consult distressed but understanding that this was probably going to be what they wanted to do.

I was completely unprepared for what what came at this consultation.  He wanted to do all of the parts listed above.  He said that Sam's first cervical plate was already fused to his skull, and that they would like to remove the 2nd and probably the 3rd.  Also, he had a complication that is rare.  In technical terms his ondontoid process was angulated in such a way as to compress the ventral brain stem and cerebral medullary and is bordering on basilar invagination.  As best as I understand it this means on the front side of his brain stem the top of the spinal cord is curved and compressing his nerves and just at the starting point of settling in to a cavity of his brain where it should not be.  All of this has to do with a congenital issue in which his joints are too flexible and relaxed.  Because of this his head tips forward and the skull is settling too far down on the spine.  the decompression would only make all of this more unstable.  His recommendation was that rods be fused from the base of his skull to the 4th cervical plate.  My understanding is that this would cause Sam to permanently lose all mobility in his neck.  On top of it all while Chiari decompression is becoming more common and fusions are also something the surgeon had done enough of, the two together are rare and carry their own set of risks and complications.  This would be the second one this surgeon had done.

The risks of not doing this are that the nerve that is compressed will become more compressed or permanently damaged.  If this happens we run the risk of needing a breathing tube, feeding tube, or that he would just stop breathing at some point.  I really seemed impossible that this was happening because nothing had changed in the child sitting in front of us as far as we could tell.  How does a parent choose to have such a surgery when your child appears healthy?  Although currently we are recognizing many more clues that meant nothing to us before.  He gets tired really easily, forgets simple words now and then, and seems to just not be able to think things through sometimes.

At this point we didn't know what to ask or do we were so taken back.  We decided that the obvious next step was to get a second opinion and asked the doctor to help us do this.  He gave us a list of pediatric neurosurgeons in Chicago, Minneapolis, Indianapolis, and St. Louis told us to go home and find out which ones our insurance would approve and call him back the next day so he could start the referral process.  I have felt God's provision in countless ways throughout this, but this one particularly stuns me.  Beside myself and not knowing how to even start down this road I was doing some more research, and looking for support the next morning online before the insurance company was open.  I came to a chat group about Chiari.  I suddenly found in front of me an attachment one of the contributors had posted.  It was a letter written in 2007 by a prominent Chiari expert from the Chiari institute in NY.  In it he is outlining the criteria for defining an expert in the field of Chiari surgery.  He states that in the US there are only several actual experts at the Chiari Institute, and only two others not in the Institute.  One of them is one of the pediatric Neurosurgeons in Chicago that was referred to me.  Furthermore, while he is out of network for my insurance he has an affiliation with the broader group of preferred specialists if we have to go out of network.  That is where we stand right now.  The referral paperwork was sent to the neurosurgeon in Chicago on Friday, and the authorization papers were sent to insurance last Thursday.  We now have to wait on both. 

Let me say here as much as I want to see this particular doctor and for the insurance company to approve it, I know it is not the end all, be all.  My hope rests in the Lord, not in my insurance company or any doctor.  I have felt his hand on us: providing guidance, giving comfort, and strengthening us.  He has reminded me that while I find it impossible to make these decisions, He already knows the outcome.  While I wake up thinking I haven't the strength to get through the day, He has enough strength to keep me standing.  And while I am grieving what this may mean for Sam as he walks through life, God created Sam and knew from the beginning that all this existed.  While I believe He is crying with us though this struggle, I also know God has a plan and a purpose for Sam's future.  He works all things for good for those who love Him and are called according to His purpose. (Romans 8:28)

We would appreciate your prays for wisdom, guidance, comfort and peace for all of us.