Unacceptable.

I crossed all of my fingers and toes that we would hear from Genetics later that day, after they met with the neurosurgeons and neuro radiologists, but no such luck.

I finally got a returned call from Comprehensive Care!!  I prepared myself to be so relieved just by the sound of Dr. M's voice letting me know they have everything under control.  But no.  It was her nurse.  She only called to tell me that Dr. M did not find it necessary to call me.  She didn't think a care conference would be beneficial at this time because we lacked sufficient data.  And she told me to defer to neurology, and wait for his call.  He was in charge and I was to wait and be patient.  I crumbled.  My support system was no longer my support system.  I couldn't get neurosurgery to schedule an appointment to discuss pressure.  I couldn't get my neurologist to call us to discuss pressure or our MRI results.  I couldn't even get my safety net to help facilitate communication, like she has so many times before.  I felt lost.  I tried to hold on to the hope that I should hear from Dr. V. with genetics.  He PROMISED me.

I held my breath all the next day and lived with my phone by my side.  Nothing.  I kept checking to make sure my ringer was on, I wasn't in airplane mode, etc.  My phone was working,  Communication, unfortunately, still was not.

Three days went by.  No calls.  No emails.  No word, no plan, no treatment for Jayson's pain.  No acknowledgement that he existed and anyone cared about his suffering.  I woke up Friday morning raging with anger.  I pay these professionals.  I pay them to care for my son.  This was medical neglect and it was NOT OKAY.  I was done playing nice.  I was done writing polite emails and trusting in these professionals to do their job and care for my son.  I've been told in the past that I need to step back and be Jayson's mom and let the professionals do their jobs.  I really really really wish with all of my heart that I could.

As I struggled to come up with a plan, I got a bad headache at work.  I decided that was how my body was reacting to the frustration and the only cure would be to make some progress on this.  I took a sick day for the remainder of the day, popped a migraine pill and drove right to Primary Children's Hospital.  I was done playing phone tag.  I was done praying, hoping and wishing for a call back.  I was going to talk to some doctors and nurses face to face.  Most clinics should be open and available at the Outpatient Clinic center and I intended to go to them all.

I started with Genetics.  What was the update?  What did they discuss at the meeting with neurosurgery and neuro radiology?  They found me a nurse and she went to get an update.  She came back with a confused look on her face.  She said, "They don't meet on Tuesdays.  Your appointment was on a Tuesday so he wouldn't have a meeting later that day."  I responded, "Yes, I know.  He said their meetings are on Tuesday, so later that day.  He said he would call me to let me know what they discuss and get us a referral to one of the neurosurgeons."  "Well, they meet on Wednesdays so I don't know why he told you Tuesdays."  "Okay," I said, "So did they meet about Jayson on Wednesday?"  She replied, "No... their meeting was cancelled due to full schedules.  Dr. V is out now.  I can send him a message and suggest that he speak with the team about Jayson next week, or the following week."  I told her we didn't have that kind of time.  Jayson's pain was getting so severe we had contemplated several times taking him to the hospital to be admitted.  His nurse was getting to the point that this is what she suggested.  I didn't think we could wait another couple of weeks to learn what they think.  I was so defeated.  This was my last hope, and it didn't happen.  How can sooooo many balls possibly be dropped??  Dr. V promised me! The nurse said she would send him an urgent message about the situation.  I didn't hold my breath that it would help.

I moved on to the next clinic-- Neurology.  I should not be surprised that this was the most disorganized clinic. There were absolutely NO nurses in clinic.  Doctors were in clinic, but not our neuro.  And not a single nurse.  How does a neurology clinic function without nurses????  They told me to call the nurse line.  I told them I had, without a response.  Even when my son is seizing around the clock, I cannot get a timely returned phone call.  They told me to get online and look up my doctor's email and send him a message.  I told them I had sent several and I was still waiting for a response and treatment plan for my son's pain.  They told me there was nothing else they could do to help me.

I moved on to neurosurgery.  Their clinic was closed.  Early start to their weekend I suppose.  No great surprise.

I went to radiology to get my son's most recent MRI images on a disk.  I had a feeling I would need them.  I expressed my frustration to my friend who works there who has helped me through similar situations in the past.  She told me neurosurgery should have been in clinic.  She gave me a phone number and told me to call.  This nurse would answer and would be happy to help me.  Guess who's number it was?  K's... the ridiculously rude nurse I had already spoken with in neurosurgery.  Like the irony?  I didn't.

So I called her again.  She didn't answer; I didn't expect her too.  I left her yet another message and my anxiety spiked as I thought what kind of nasty phone call I might receive from her when and if she returns my call.

I then headed to the Comprehensive Care clinic where Dr. M works.  I had to tell myself that Dr. M must not understand how dire this situation was.  There's no way she would write us off.  There has to be some explanation.  It had been another entire WEEK since I had told her that we hadn't heard from anybody.  Surely she would want to know, right?  Surely she would want to help.  I went to the front desk where they told me their last couple of appointments cancelled and they were off early for the afternoon.  They explained that Dr. M was in meetings somewhere in the hospital and they would try and page a nurse for me.

I waited for about ten minutes and was so excited to see a nurse coming to meet with me.  She listened intently and took notes about what I was saying.  Ironically, they seemed like similar notes I had left with a different nurse the previous week.  I begged her to plead with Dr. M to call me.  We needed her.  We were very worried about J and communication was not happening.  We would need to admit him if we couldn't get in contact with one of our doctors soon to come up with a plan.  The nurse assured me that with a matter this urgent we should hear back from Dr. M soon.

We never did.

I left the clinic feeling more enraged and hopeless that when I arrived.  How is this okay???  How is any of this acceptable???  How can so many doctors be dropping the ball and neglecting my son's medical care??

I wanted to give up, but I knew I couldn't.  It was only 3:30pm.  There was still time to try and make something happen before the weekend arrived.  I got in the car and made another call.  Our neurologist often works at the Riverton Hospital clinic.  I called there and asked to be connected with the front desk.  Unfortunately, he was not in clinic there either.  She told me to call the nurse line or send him an email.  AGAIN.  I took a deep breath and asked her if she could please connect me with the nurse line so I could leave yet another message.

I finally lucked out.  The nurse answered after only a couple of minute hold.  She KNOWS Jayson.  She has seen him in clinic and works for both Dr. M and our neurologist.  She quickly read all of the emails, notes, phone calls I had left and the couple of short replies from our doctors in the past five weeks.  She said this was unacceptable.  I couldn't agree more.  She said this is not common behavior from Dr. M or Dr. L our neuro.  I agreed.  She said there must be some type of mix up.  They needed to know that nothing has happened.  She said she would message Dr. L urgently.  Guess where he was??  At Primarys.  I passed his location twice on my mission to find someone who could help.  She said she would follow up and make sure he personally reads the message that we need a phone call.  I was scared to hope, but she called back 30 minutes later to say that she is confident he received the message and is hoping he calls me that evening.  If not, it should be Monday at the latest.  She told me if I don't hear back by Monday at noon, call back again.  She told me not to give up.  Keep calling until they get back to us.  It was their job.

I went home exhausted having felt like all of my efforts were yet again in vain.  No answers.  No plan.  No ideas for how to help J with his pain or know whether or not there is pressure in his brain.  I was so confused.

Just before 5, I got a call back!!  It was K with neurosurgery and she was ridiculously nice this time.  Guess she was happy it was Friday.  She told us that the schedulers went home early today but Monday we should hear from a scheduler in neurosurgery to set up an appointment with Dr. K in neurosurgery a week from Tuesday.  If I don't hear back from someone by noon, I should call back.  Yes.  Something was finally happening!

I took a deep breath and realized I had done all I could do for that week, so I switched modes and focused on Cozette's first birthday party!  It was designed to be a huge event and I had a lot of loose ends to tie up before her party the following day. I was at Walmart dealing with a Photo Book fiasco when I got the call.... Dr. L in neurology finally called!!!!!!!!!!!!!!!!!  It was short and sweet.  He said he thought that neurosurgery scheduled us to see them and that they were taking things over.  I explained that the nurse wouldn't schedule us with neurosurgery and we were asking for his and Dr. M's help in getting an appointment.  He felt badly.  He expressed that he felt an Lumbar Puncture would give us the best information.  Since I had already discussed a lot of my concerns with Dr. V in Genetics, I agreed.  I was on board.  He said he would get it scheduled for the next week.  He also said that the medicine Dr. D recommended for Jayson's head pain isn't typically used with pediatric patients, but it can be.  He recommended we wait until after the Lumbar Puncture, if we can, to start the medication.  I asked him who would follow up with me about the Lumbar Puncture the following week and he said either he or someone from his clinic would call me on Monday with a date and a time.  FINALLY we were moving forward.

I was able to enjoy the weekend with my family knowing that we had made some good progress thanks to my extreme efforts.  Unfortunately, Jayson wasn't able to enjoy his sister's birthday party.  He spent the majority of it inside, crying, melting down and rubbing his head.  I am so grateful to his nurse Chelsea who cared for him while I focused on Cozette and her guests.

Monday came around.  It was going to be a good day.  I should hear from neurosurgery so we can schedule an appointment and from neurology so we can schedule a Lumbar Puncture.

But I didn't.  Not a medical phone call all day.

The following day I called neurosurgery AGAIN.  Finally we were able to schedule an appointment for the next Tuesday.

I hoped to hear from neurology so I could arrange my work schedule around the Lumbar Puncture. Still no call.

So I called Neurology, in the middle of the week now.  They had seen there was a note from Dr. L to a nurse asking her to schedule it.  The message hadn't been read by a nurse yet; they said she must be busy.  I let out a little of my frustration in the form of a mama bear growl and I was promised a call back later that day with a day and a time.   I was called later that afternoon with the date of the following Friday, NOT this week like I was originally told.  I was grumpy but figured that gave me more time to ask all of my questions about the risks of an LP.

The following day I put in a call to neurosurgery because I had read that there are significant risks to Chiari patients who get a Lumbar Puncture, even documented deaths.  It was highly recommended in the literature to discuss risks and benefits with a patient's neurosurgeon to determine if the LP was worth the risks.  It was typically only recommended in patients who could have meningitis, an urgent life threatening situation.  I wished this had been brought to my attention by one of our many doctors instead of by another Chiari patient who is a friend of mine, but I was glad to learn of this potential risk none-the-less so I could discuss it with our doctors... through more phone calls.  Sigh.

I called our neurosurgeon's office and asked to speak with the nurse.  I hoped it wouldn't be K, but told myself I didn't have to be nervous anymore because our last correspondence was positive.  Little did I know that our next conversation would put the previous bad experience to shame.

Nurse K got on the line:  How can I help you?

Me: Hi K, this is Jayson's mom.  I had a question for Dr. B (J's Chiari neurosurgeon) and I hoped you could ask him and get back to me.  Dr. L is scheduled to do an LP a week from Friday and it just came to my attention that there are additional risks to Chiari patients.  I guess there are some specific ways to lower risks and I wondered if Dr. B thought J's Chiari was stable enough, if the risks of ICP outweighed the risks of the LP and if he had special recommendations for Dr. L to carry out the LP?  Could you ask him these questions?

K:  Those would be great questions for Dr. L in neurology.  Since he is the one you've selected to carry out Jayson's LP instead of a neurosurgeon, why don't you ask him?

Me: Well, Dr. L is NOT a Chiari expert.  These are questions I am supposed to ask a neurosurgeon.

K:  Yes, well you have selected to have a neurologist do the LP, so you can ask him.

Me:  I didn't select him.  Your office wouldn't give me an appointment with Neurosurgery and my team told me that Dr. L was heading this up.  Dr. L is not the expert on Chiari; I don't know that he will know the answers to my questions.

K:  Well, you can contact him and ask him to talk about these concerns with Dr. B if he chooses.

Me:  Do you have any idea how hard it is to reach our neurologist?  It has taken five weeks to just get him to call us back.  Jayson's LP is in a week.  I need a quick response, and I am not certain that Dr. L will even have answers to our questions.

K:  Well, you will have to call his nurse or send him an email and request that he ask Dr. B your questions.

Me:  (In an "I've had enough of your crap" voice) Okay, K.  This is how it works.  I have a question for a doctor, so I call the doctor's office and talk to the nurse line.  I ask my questions.  The nurse talks to the doctor and gets back to me.  That is how it works with ALL of my son's physicians.  Are you telling me that this is NOT how it works in your clinic?  That I can't ask you a question, have you talk to Dr. B and then get back to me?

K: Well, typically it does.  But not in this instance.  With most patients and situations yes, but not in this particular instance.

Me:  Why is that?

K:  (In a condescending voice) Here Mom, let me tell you what I'll do.  If you can't contact your neurologist yourself, how about I write him an email for you asking your questions.  That way your questions get asked.  I'll even cc you, would you like that?  That way you can SEE that the message is getting to your doctor.

Me: Fine.  Could you also cc Dr. B since HE is the one who will have answers to these questions?

K: Sure, whatever makes you happy.  I'll draft it now.  Have a nice day.

$#%& #$#$@  @#$@!!!

Yes, I let out some obscenities.  Who the HELL does this woman think she is???  Oh, I detest her and her mean attitude.

Seriously, do you think I'm calling neurosurgery for the FUN of it???  Do you think this is something I even want to be doing???  NO ONE wants to be calling that office.  NO ONE.  How dare they treat patients' families this way.  It is completely unacceptable.

I plan to talk to certain people about K's behavior, but unfortunately I think it will fall on deaf ears.

Oh... and I never received her email she promised to send to our doctors.

I am pretty sure that was my final straw.  I was done with the neurosurgery department at Primary Children's Hospital.

The following day I woke up in a more positive mood, realizing that it was probably a good thing how scheduling worked out.  We had our appointment with Dr. K in neurosurgery the following Tuesday where I KNOW he will ask Dr. B about the risks of an LP in a Chiari patient.  And then the LP was a couple of days later.  I assumed I would get my questions answered, no thanks to the mean nurse.

However, I was not prepared for the RIDICULOUS bomb that would be dropped on us later that afternoon.  It was a week before Jayson's scheduled Lumbar Puncture.

The phone rang.  I saw it was neurology.  They were calling without me begging them to.  A nurse asked if I was the parent or guardian to Jayson.  Yes.  She continued,

"Great news!!  Dr. L (neurology) had a chance to talk with Dr. B (Chiari neurosurgeon) and they took a minute to review Jayson's MRI imaging and they said the MRI is normal with no evidence of increased intracranial pressure.  Dr. L said we can go ahead and cancel the Lumbar Puncture scheduled for Jayson next week.  He says he is doing just fine."

Are. You. Freaking. Serious. ? ? ?

I can't make this up.  I can't. 

So after alllll of my phone calls and emails
after other doctors sending notes to our neurologists with their documented findings of ICP
after a team of neuro radiologists meeting for 30 minutes to come up with a LIST of evidence of ICP which was sent to Dr. L
after our neuro ophthalmologist saying she would talk with Dr. L about her concerns for ICP
after our geneticist telling us he would talk with Dr. L and neurosurgery about his concerns for ICP
and after ALLLL of these doctors were on board for a Lumbar Puncture....

My son's neurologist is going to have his nurse casually call me and tell me that he doesn't see any evidence of pressure after reviewing my son's images for the FIRST TIME after SIX WEEKS for a couple of minutes

and that he plans to CANCEL the ONLY step forward we had taken in those six weeks towards finding answers for Jayson

And he expects me to be okay with that?????

And he can't even make the effort to call me with that news himself?

No.  Just no.  Completely unacceptable.

I started to cry and asked the nurse, "So what am I expected to do with the information that other doctors have told me that is completely contrary to what Dr. L just said?"

She asked for specifics and I referenced Dr. D's meeting with the neuro radiologists and Dr. V's findings that were consistent with what Dr. D documented.  I told her Dr. D had sent her notes to Dr. L.  I had ALSO told Dr. L when Dr. D had said.  She told me she would not cancel the Lumbar Puncture just yet.  This was all so confusing and not okay.  She was certain our neuro had not yet read other doctors' notes nor knew this conflicting information yet.  She said our doctors needed to get on the same page.  I agreed 100%.  She said she would talk to Dr. L that day and get back to me.

That was four days ago.  Still no update.

So is Jayson having a Lumbar Puncture on Friday?
I don't know.
Does he have intracranial pressure?
Some doctors think so.  Others apparently do not.  We don't know.
And there is no current plan to find out.
Have we made any progress in nearly SEVEN weeks since Jayson's MRI and nearly FIVE months since Jayson's intense pain began?
No.  Absolutely none.

So please understand where I am coming from when I say that I am DONE with this nonsense.
This type of care for my medically fragile child is unacceptable.

I'm certain there are reasons for this negligence and miscommunication.  But quite honestly, I don't care to hear them anymore.

My son deserves better and I have continuously promised him I will do everything in my power to ensure he gets the care he deserves.

And that's a promise I intend to keep, Little J.

I promise.

We are hoping that a couple of doctor appointments this week point us in a good direction.  We appreciate any and all prayers at this time.  Thank you.

Genetics Appointment- An Answer to Many Prayers

The week of April 15th, it had been an entire month since Jayson's MRI and we had YET to get anyone to talk with us about the results.  There were several new findings and absolutely no explanations.  Communication was nearly non-existent and we were feeling so frustrated.  Fortunately a doctor came through for us and it was an unexpected surprise.

Shortly after I read through Jayson's MRI report we received on March 16, I sent an email to Jayson's genetic counselor.  She and I had done some emailing back and forth over the past few months regarding Jayson's headaches.  We asked her if Dr. V ever requested to have our Whole Exome Sequencing re-evaluated looking for migraine genes such as CACNA1A.  GeneDx reported that had no common migraine gene mutations.  Once I had read a little about Jayson's new diagnosis of Rhomboencephalosynapsis, I was curious to know if this was a condition other kids with his MN1 mutation shared?  Or could this mean Jayson has another genetic mutation at play?  Do we need to look into Whole Genome Sequencing for more complete answers?  If so, we know it can take a while and were interested in getting started soon.  She had mentioned in her previous email that Dr. V has been wanting to see us again, so I also inquired when we should try and schedule an appointment.  I was not expecting to get a phone call from Dr. V's schedulers requesting that we see him in just TWO WEEKS on April 17th!!  That doesn't happen in genetics land.  Most people are scheduling out at least a year with genetics.  We were so fortunate to get an appointment so soon!  It made us wonder if Dr. V had some news for us about the MN1 mutation paper.  We were told it was in review status and were anxious to learn about the other MN1 families!!

As we came in for our appointment, we really didn't know what to expect.  I wrote down a lot of questions about MN1, a couple of questions about rhomboencephalosyanpsis and genetic causes, and if there was time I wanted to ask him about Jayon's MRI results and if he is aware of any communication behind the scenes or what it all means.

We first met with our genetic counselor, JP.  She was totally prepared and came in with printed doctors notes about Jayson's MRI results and discussions happening behind the scenes before we could even ask her!  She read us notes from our neuro ophthalmologist's conversation with a team of neuroradiologists.  They said,

"I reviewed this imaging extensively with neuroradiology for over 20 minutes-- we found that he had tortosity of the optic nerve, empty sella and flattening of the glove and some venous narrowing on the right (all signs of increased intracranial pressure) in 2018, but these were similar to 2016 and 2014.  However, in 2012, the Optic Nerves were not tortuous.

An LP (lumbar puncture) with opening pressure may be helpful in determining wheter ICP is elevated-- so I would recommend: LP with OP, protein, glucose cells (to be sure no inflammatory changes) -- while under sedations, he could have a dilated eye examination with Dr. J if he thinks that is appropriate."

Dr. D

My heart sank.  I knew our ophthalmologist told us that Dr. D and the neuroradiolgists found evidence of ICP, but hearing it laid out with the different findings in J's imaging made it so much more real.  I took a deep breath and said it was helpful to know what was found and why they believe there is ICP.

Next our genetic counselor gave us a peer reviewed research paper on Rhomboencephalosynapsis.  She told us some things we already knew like that it was very rare and there wasn't much research on it.  She said this was the most informative study, but it was already four years old.  I appreciated her knowing us well enough to know that was exactly what we were looking for!  I prefer reading authentic medical research papers, but not all of them are available online.  There are many only available to medical professionals or for purchase.

A little while after she left, Dr. V came in.  He mentioned that he was aware we had seen a lot of specialists recently and that Jayson has been struggling with head pain.  He acknowledged that Jayson was now communicating with an ipad and how exciting that was.  He stated he read that Jayson had been pushing on his eyes, and that was not a common behavior if there was not pain or vision issues.  Before ever approaching the topic of MN1 he asked, "Have you guys seen the MRI images?"  I responded, "No, we have only read the report."  He replied, "Okay, I haven't looked at it either, so let's take a look together."

We were thrilled that we were finally going to see Jayson's images and gain a better understanding of what is going on in his brain and why his doctors are suspecting intracranial pressure.  Typically this would be the job of our neurologist, but for unknown reasons he had YET to call us with results and explanations.

Dr. V took an entire HOUR to go over Jayson's MRI imaging with us.  He brought up all pictures of his current images and well as accessed previous images to compare them to.  Although not a neurologist or radiologist, he seemed very comfortable and confident in reading images.  He stated clearly that what neurosurgeons would be looking for in Jayson's imaging-- if he needed a shunt.  We had wondered this.  Both Jayson's chiari and craniosynostosis can cause a need for a shunt.  With the fluid collecting behind Jayson's eyes, I wondered if this was a concern for hydrocephalus or a reason for a shunt.  Dr. V. explained that they were looking for a build up of cerebral spinal fluid and a Lumbar Puncture could give us good answers. He explained that sometimes there is a build up of storage material in the ventricles that causes the CSF to build and it does not always show up on an MRI, the ventricles stay the same size.  The build up in the ventricles makes the membrane thick and can cause it to lose elasticity, so it isn't elastic enough to show evidence of the pressure.  He contrasted it to a balloon-- if you blow in a balloon, it enlarges.  But if you blow into a rigid object like a hard ball, it won't necessarily enlarge.  So if we were to do a lumbar puncture it may show evidence of pressure even if ventricles aren't overly enlarged.  He said that if the neurosurgeons see an opening pressure over 30 in addition to the signs and symptoms and behavior changes Jayson is demonstrating, that they will often decide to place a shunt. He also said that one of our neurosurgeons may be able to avoid a shunt by putting in a probe and clearing a way for spinal fluid to pass through.  It's a newer procedure that can sometimes be done to avoid a shunt.

He explained there are changes in the optic nerve in the images.  He explained that usually the optic nerve will thicken if the pressure increases in the brain.  He explained in MPS, you may not always see optic nerve swelling with increased pressure.  He said, "So I think you're in the same boat as in MPS, trying to diagnosis when something is wrong as parents and physicians don't have a clue what they're talking about but you know there is something different about how he is doing and that he's usually very well otherwise, and know that something is wrong as parents."   

He said on Tuesdays he meets with neurosurgery, neuro-oncology, and neuro-radiology to talk about patients they are concerned about.  Usually they are talking about tumors, but they could talk quickly about Jayson.  He said Jayson's previous neurosurgeon would be there as well as Jayson's two current neuro surgeons, one for chiari and one for craniosynostosis.  This would be a referral to one of them so we would finally know which one we should see.  

He described several parts of Jayson's brain that looked different, or abnormal, but he couldn't definitively state what was abnormal.  We had no idea that Jayson's brain had so many abnormalities as no one has really ever gone over imaging like this with us before.  We took a look at the eyes and he pointed out impressive amounts of fluid behind the eyes.  He pulled up a past image to compare and show us how Jayson's optic nerves have changed.  He analyzed the nerves and said they look tortuous.  We reminded him that is what Dr. D had said as she analyzed his images with a team of neuro radiologists.  He asked if we knew what caused optic nerves to completely twist like that?  Pressure.  Typically lots of pressure.   He said the nerves, even tortuous, were quite unusual.  He questioned if one of the nerves was even completely turned sideways, maybe even kinked.  He described one eye with a nerve coming in at an unusual angle and splitting off.  He said it appeared the fluid gathering in that eye was even pooling slightly into the brain.  He called the right eye a little convoluted. He said it may be worthwhile to get an orbital MRI to look at the optic nerve in detail. 

He pulled up images that clearly showed Jayson's cerebellum.  He had hoped that perhaps the Rhomboencephalosynapsis diagnosis was not accurate, and that perhaps pressure in the brain squished the two hemispheres together to make it look like they were fused.  Unfortunately, the imaging looked pretty clear.  He did not see any vermis dividing the cerebellar hemispheres.  He pulled up previous imaging, still no vermis.  Jayson was not born with a vermis separating the hemispheres, confirming his Rhomboencephalosynapsis diagnosis.  I got nauseous.  I mentioned that I had heard there was a specialist in Seattle to visit and asked if it would be worthwhile to contact him or have a consult.  He mentioned they are good friends and that they get together from time to time and he would talk to him about Jayson and let me know what he says.  Blessings.

He took a look at the ventricles.  Although the report stated they were only mildly enlarged, he said the ventricles look a little generous to him.  He explained that there should be more fluid in another part of the brain but he didn't see a lot of fluid where there should be, wondering again if fluid was being stored in the ventricles.

He explained Jayson's brain anatomy is a little different in several areas and he believed it was it's quite compressed.  He claimed it's going to take someone thinking outside of the box to determine what we are seeing exactly.

We noticed that Jayson's pseudomeningocele that had been seen in previous MRI's is now drained and there was an empty hole in part of his brain where the fluid used to be.  Dr. V asked if we were certain it was a pseudomeningocele and not an arachnoid cyst.  I told him we had only heard it referred to as a pseudomeningocele, and some denied it was even there, and no one could answer our question about how or when it was formed considering it was not present right after Jayson's last cranial surgery.  It seems this is still a big question.  What was it and where did it go, and why is there a hole in his brain where it used to be?

Dr. V printed out a few pictures of Jayson's brain where he thought it highlighted the most obvious abnormalities and also printed out a similar image of Jayson's first brain MRI that looked more typical to compare it to, and show how it has changed over time.

Dr. V also noticed some swelling around Jayson's right eye on the side of his face.  I had noticed it too and I had taken some pictures of his face to try and ask about it, but it is so subtle I never brought it up.  Dr. V noticed and thought it might have been related to his eye problems and brain pressure.

He reminded us that he would be meeting with neurosurgeons and radiologists to discuss these images, the changes over time, and the many abnormalities we saw.  He told us he definitely recommended a Lumbar Puncture to check opening pressures and he saw a lot of potential evidence of pressure in Jayson's brain.  Even more important than the Rhomboencephalosynapsis diagnosis was figuring out if there was pressure and how to relieve it.

We finally got around to discussing MN1.  I figured this was the entire purpose to our appointment.  I anticipated he had some update for us or had read the research paper and could tell us some new information.  But there was next to nothing. He had no update.  He knew the paper was in review status a while ago and thought it should have been published by now.  He suspected that it may have needed some revisions.  When I asked if he had read it and knew any new information, he chuckled a little and responded, "I'm an author.  I helped write it.  Of course I've read it."  It then became obvious he could not tell us explicit information because it wasn't published yet, not because he didn't know any more information.  He did go through the brain and skull findings of the other children.  Jayson was definitely the most complex child when looking specifically at brain or skull.  Another child or two had a couple of fused sutures or suspected craniosynostosis, but that was not a common finding among the patients.  Some children had conditions similar to a Chiari, but none seemed to have had as complex brain conditions as Jayson.   It appeared that there were now TWELVE children instead of SIX, so that was double the numbers in the past year!!  That's tremendous growth in identifying new patients.  Dr. V explained that each of the patients was very different, although they were all developmentally delayed.  They didn't look too similar and they all had different variations of conditions.  The doctors and researchers involved are still feeling confident this is a disease causing mutation, but they believe they need to find MANY more patients before they can identify common trends with this syndrome.  He explained that it's possible that peer reviewers may not think they have proven this mutation is significant since there is such variability among patients.

He did not think it would be worthwhile to look for any other mutations at this time.  He thought it was important to wait and see if they have more patients with this mutation come forward.  He thought it may be worthwhile for an interested researcher to do more studies on zebra fish injected with the MN1 mutation.  But he felt we were doing everything we can at this moment and the best thing we can do is look for more families.  So I guess that is exactly what we will try to do!

We left that genetics appointment feeling very heavy hearted and overwhelmed, but at the same time relieved and full of peace.  Mike and I are parents who NEED information.  We have to know the facts.  We need to see imaging and talk about what we are potentially looking at and what our next steps are.  We can NOT be left in the dark.  We walked out feeling so grateful and appreciative that our geneticist and staff know us well enough to know what we need.  Not many parents would want to go over imaging for an hour and talk about research papers on conditions that many cannot pronounce.  But we do.  For us, there is power in knowledge and we want as much information as possible to help us make the best decisions possible for Jayson.  We heard a lot of bad news, it seemed, in our appointment, but we left feeling more at peace and confident because we were better informed.  We had a plan.  We had some answers.  We knew where to focus our energies.  We were very grateful.

As we drove home I couldn't help but feel overwhelmed with gratitude.  It was so apparent to me that our Heavenly Father was mindful of us.  Genetics is nearly impossible to get an appointment with, yet THEY called US and scheduled one for just two weeks later.  We thought that was because they had an update on MN1.  Well, they didn't.  So why did they even call us?  Why did they get us in so quickly?  Because God knew we needed this geneticist, his time, his patience and his knowledge at this particular time.  Was it coincidence that he was supposed to meet with neurosurgery and radiology later that afternoon?  No, I don't believe it was.  It was God reminding us we are not alone.  He is aware of our struggles and He will not leave us comfortless.  Was it just chance that the geneticist wanted to go over imaging, actually knew what rhomboencephalosynapsis was, and was friends with the national expert?  No, I don't believe it was.  We were in the right place at the right time with the right person, and that was just the answer to our prayers that we desperately needed.

There have been a couple of times now where our geneticist was the answer to our prayers.  He is an invaluable member to our team.  We are hopeful that we will hear from him again soon about the discussion he intended to have with neurosurgery and radiology.  We are hopeful we will hear an update soon about MN1 and the paper.  We are hopeful that his connection with the expert in Seattle will be beneficial.  We are feeling a little more comfortable about this difficult place we are finding ourselves in.  Hopefully soon we can take another big step forward in finding answers for Jayson.



  

The News that Broke Me

I've been avoiding this post as long as I possibly could.  And even as I write this, I don't know that I can actually post it.  The past few weeks have been ruthless and beyond difficult for many reasons.  Unfortunately, the possibility that my son has intracranial pressure and could need another brain surgery is just one of them.  But there is so so much more.

I wrote a post about the anxiety I had before Jayson got his last brain MRI.  I was in agony and did not want the results.  I feared what they might be and the pain they might bring.  A couple of days before the MRI I had a vision, a dream while I was awake, and I saw myself grieving.  It was in response to the MRI we were about to have.  The news was not good.  I did not want to go forward.  I did not want to know whatever information was waiting for us. 

I was mentally prepared for the fact that we might learn that Jayson is having intracranial pressure.  I was mentally prepared that the results might bring hard things.  I was NOT prepared, however, for a completely new diagnosis.  I was not prepared to have absolutely everything we know about Jayson change in an instant, while nothing in his brain actually changed.  I was not prepared to be devastated, crushed and completely broken by the new diagnosis found on Jayson's MRI report.

I haven't allowed myself to fully process this new diagnosis, partly because our neurologist has not helped us in understanding what it is and what it means.  I haven't wanted to write about it because something about writing it down makes it feel too real.  I haven't wanted to share what we are dealing with because it seems that once I share this news I can't ever take it back or pretend it never happened.  Once it's out, I can't hide from this new knowledge anymore and honestly, I don't know how I will cope.  The only thing getting me through is convincing myself it isn't real and there must be some mistake.

There were several new findings on Jayson's MRI, which was not really something I was expecting.  One was the fluid in his optic nerves bilaterally.  Another was the position of his carotid arteries.  Lastly was the diagnosis of a condition called Rhomboencephalosynapsis.

Not familiar with it?  Neither were we.  Naturally, I visited the world wide web for some insight and there was not a lot there.  Why?  Because there have only been 40-50 diagnosed cases in the world since 1914, according to the research and literature.  I should be surprised, but the rarity of Jayson's condition(s) no longer surprises me.

What is it exactly?  It's a brain abnormality, a malformation that happened before birth.  Technically it is defined by a partial or complete missing vermis, a part in your brain that divides the two cerebellar hemispheres.  Therefore, the two cerebellar hemispheres are fused together.  This malformation is found in isolation or with other brain abnormalities and genetic conditions.  It is recently diagnosed often in utero or shortly after birth by MRI.  Due to its rare occurrence, many doctors and radiologists are not familiar with it, so it can go undiagnosed for many years, such as in our case.

What does it explain?  A LOT of Jayson's issues, actually.  I think this means more to us than Jayson's actual genetic syndrome that was recently diagnosed.  It is also seen with or can cause vertebral anomalies, abnormal skull shape, dysmorphic features, absent olfactory bulbs, ataxia (balance issues), abnormal eye movements, delayed motor development, mental retardation, other brain abnormalities including Chiari Malformation, seizures, involuntary movements, and hydrocephalus.  All of these things are conditions Jayson has, with the exception of hydrocephalus (which is now something doctors are considering given this diagnosis and the latest MRI findings).  Heart and kidney problems can also occur.

Isn't this a good thing?  Yes and No.  Yes this is good because it's an answer.  These are answers we have desperately been seeking since my son was first born.  But it's a lot more complicated than that.

First off, let me express my anger and frustration.  Once again a major condition my son has had since birth was overlooked and undiagnosed.  He was BORN with this condition.  Most patients are now diagnosed in utero.  My son was not.  Some are diagnosed later because they had no need for an MRI until later in their lives.  We had J's first MRI at 6 months of age.  It was not diagnosed then or during Jayson's other 7 or 8 brain MRI's.  In fact, the radiologist who diagnosed it in this MRI was Jayson's radiologist who read his very first MRI.  His brain was unchanged.  His vermis was absent then, and it is still absent now.  I cannot express in words the anger and frustration I feel knowing the answer for most of Jayson's complications and conditions was right in front of us the entire time.  How was this missed?  It is very easily detected!  How is this even possible??  I get tired of saying that; I really, really do.

Secondly, let's talk about what this really means.  A part of Jayson's brain is missing.  It's not there.  It can't grow; it can't appear; it can't be repaired.  No amount of gene therapy, medication, therapy, happy thoughts or even prayers will make a piece of his brain appear that was never formed.  There is NO HOPE.  None.  I can't let that even sink in.  I'm always so full of hope!  Even with a rare diagnosis of just 6 kids in the world, I can somehow visualize us finding more families, starting a foundation, funding research, discovering an amazing doctor who will create a treatment that could potentially heal my son.  There is a glimmer, although faint, of hope in that situation and in every other situation we have encountered.  But in this, there is no hope.  No surgery, medication or treatment will ever heal my son's brain and I am completely crushed by that realization.

Lastly, it's time to be painfully real.  If you haven't googled Rhomboencephalosynapsis yet, let me share with you what is found all over medical sites, foundation pages and research papers.

I don't think this needs an explanation.  I don't think I need to try and even express what I'm feeling.  Pure devastation.  Heartbreak.  Disbelief.  Numbness.  There honestly aren't words.  But I'm barely functioning most days; I'm pretending I live in a world where this information doesn't exist in order to function on the other days.  I hate this so much.  I hate all of it.  I don't want this to be my son's journey.  I don't want this to be our destiny.  I want another option.  I want there to be another way.

Because I can't live in a world where he doesn't exist.  I just can't.

We have never been told in the past that my son's conditions are terminal in childhood.  Up to this point we have been told that his conditions are life threatening, and given a healthy life with the support of his medical equipment, he could live to be in his 30's or 40's.  That was still hard to digest, but that seems so far off.  Somehow I feel like it would be easier then, although unlikely.  But we have never been told there is a good chance my son will not make it to adulthood.  This is new.  And it hurts like hell.  No, it breaks.  I'm literally in pieces.

I know a that there's a lot of not-so-great things that can come of Facebook, but it is my lifeline.  When I searched Rhomboencephalosynapsis on Facebook I found another family IN IDAHO that comes to Primary's for treatment!!!  Their daughter is younger than Jayson.  I messaged them and she informed me of a Facebook group to support families of children with this diagnosis.  Little did I know that a good friend of mine was also a member and her son has RES as well!! We've always known our children were similar.  I gained so much relief and peace from their posts, and maybe even a little bit of hope.  There are around 200 members of the group and it consists of many family members, including extended, as well as some medical professionals.  But there are many more than 40-50 people diagnosed with RES.  There are several adults who are members who post regularly!  There is a spectrum of cognition and abilities in the group.  Even so, it appears Jayson is among the most affected and the most medically complex.  Members claim the outlook is not always as grim as the research says, and that the research is 4+ years old and outdated.  They don't feel it is almost always terminal in childhood.  I know that's just the opinion of FB group members, but for now that is exactly what I'm holding on to.  I need that to be my truth.  I need to believe it with all of my heart.

I was very hesitant to research about RES or try to process that this could be a diagnosis until I spoke with our neurologist.  As I wrote in previous blog posts, he has not been in contact with us.  After I got our MRI report and saw this diagnosis and read one article about what it was and what it meant for Jayson, I sent our neurologist an email.  I asked him to please contact us as soon as possible to discuss the results.  I listed 3 or 4 main questions, some of which were about RES. I explained how important it was that we learn if Jayson really had this condition. I wanted to know how it was missed all of these years, and what it means for his future.  I explained what I had read in research and that I'm overly anxious reading that children with RES don't typically live to adulthood.  I told him my Mommy heart needed to know if my son really had this condition.  No response.  Still.  Nothing.  My heart is aching;  I am scared and terrified;  I cry myself to sleep each night worrying that this diagnosis might in fact be ours to own, yet he has still never called us to discuss Jayson's MRI results and RES.  I'm so confused.

I reached out to genetics via email.  We were due to set an appointment and I asked our genetic counselor if a diagnosis of RES changes anything?  Does RES come with Jayson's MN1 mutation?  Do other kids have it?  Is it something different?  Does it mean a different genetic mutation?  Does Jayson have two mutations?  Do we need to do more testing?  Genetics responded by scheduling an appointment with us... just two weeks later!!!  Anyone who knows anything about genetics knows that is an absolute MIRACLE.  We assumed it meant they had some news for us about MN1.

I plan to discuss our genetics appointment in more detail in my next post, but we got a chance to talk with Dr. V our geneticist about RES last week in our appointment.  His big question was the same as ours--- If it is congenital, formed before birth, how was this missed all of these years and with all of these MRI's?  I somehow hoped and prayed that it was a mistake.  That if we reviewed Jayson's other images they would clearly show a vermis and in these latter images we would see there was some mistake.  Dr. V said out loud, "I honestly wonder if it's not a fusion of hemispheres, but instead his hemispheres in his brain are so smooshed from pressure that it looks like the vermis is absent."  YES!! I like that answer.  Please God, let it be that.

Dr. V found Jayson's first MRI for us and found the right image to analyze the vermis.  He printed it out and handed it to us.  He pulled up his current MRI with the appropriate image to analyze Jayson's cerebellar hemispheres and printed out a copy of that too.  He pointed to where the vermis should be in J's current image.  No vermis.  No separation of hemispheres.  Could it just be smooshed?  He pulled up the first MRI image from when Jayson was 6 months old.  Absolutely the same.  Absolutely no vermis.  There were not two hemispheres, and in this image there was no evidence of crowding or pressure.

It was true.  Jayson has rhomboencephalosynapsis.

My heart sank clear into my stomach and I swore I might vomit right there in the clinic.

There was no denying it.  Jayson had RES.  And it went undiagnosed for six years.  And my baby is not likely going to live a long life.  And I have no idea how I will accept that.

There are different severities of RES and they are dependent on the level of vermis absent.  Many patients have a few pieces missing.  Others have a part of the vermis that formed, while the rest of it didn't.  Jayson, however, doesn't seem to have formed a vermis at all.  Patients with no vermis have the grimmest prognosis.  Even seeing it in writing doesn't help me accept it.  I'm in denial.  This isn't real.  It can't be.

Clearly, most doctors do not know about RES, what it looks like or how to diagnose it.  We were fortunate that our geneticist did have some familiarity.  However, I know he is not the expert.  I have learned in my support group that the expert on RES and other hindbrain and cerebellar conditions lives in Seattle.  I asked Dr. V if it would be worthwhile to pay him a visit?  He claimed he and this doctor are close friends and would be getting together later that week!! He expressed he would mention Jayson and his case to his doctor friend.  I took that as a sign that God is mindful of us.  God cannot replace the missing vermis in Jayson's brain.  He cannot take away my agonizing pain.  But He can stand with me every step of the way.  And I am grateful for that.

I am hopeful that we can visit this doctor in Seattle.  There is no treatment or cure for this condition, but there is much more knowledge to be had.  I need the info.  I have to know as much as possible in order to do as much as I can.  I am still holding on to a glimmer of hope that maybe this doctor in Seattle will look at Jayson's images and see a speck of a vermis, that maybe not ALL of it is missing.  Which could mean his case isn't as severe.  I need that hope.  I need to believe things are not as bad as they seem.  I need to know I'll have my boy with me by my side for many more years to come.  Honestly, I can't live without him.

I can't live in a world where he doesn't exist.

Please God, please don't make me live without my baby.

Please let there be a miracle.  Let there be a way he can spend many happy years with us spinning, eating pancakes and lounging with his feet up on the table.  I need to hear his giggle and see his smile.  I need to hold him forever.  Please God.  Let us make zillions of more memories with those we love.  Let there be time. 

I need time. 

I need him.  I NEED every bit of him. 

I need my Little J here with me on this earth.  No, not even eternity is not long enough.

Please God.  Please.

PLEASE.

Silence

Have you ever been told bad news that needed follow up and further explanation?  Maybe something like, "Your mom is being transferred to the hospital.  She was in an accident." or "This is the school.  Your child had a fall and needs to be picked up from school.  He/she may need to see a doctor."  or maybe "It doesn't appear there is enough money to keep your job position next year.  It depends on our finances."  It sucks to hear bad news and be in limbo wondering if things are going to be okay or fall apart. We had heard it appears Jayson has pressure in his brain that is causing his severe pain and that he needs a lumbar puncture to test pressures.  As a mom, I had a million follow up questions to this information:

How do we know he has pressure?
What evidence did they find?
If we confirm he has pressure, is it looking like he may need another cranial expansion surgery?
Or will he need a shunt?
Are we certain his Chiari is stable?
Why a lumbar puncture?
Why have we never done one before with his previous concerns for pressure?
Why has ICP bolt monitoring been suggested over a lumbar puncture in the past?
Would bolt monitoring give us more information?
Is it possible he may need both a lumbar puncture and bolt monitoring?
Is there a way to avoid doing both?
How can we keep Jayson calm during and after any of these procedures?
If the imaging suggests a build up of pressure over time, what have we missed in past imaging?
Who is heading this up?
Is it time to get an appointment with neurosurgery?
Is my son's life in danger with high icp?
What is our timeline?
How quickly will we move on this?
Our cranial surgeon took another job across the country.  Who should we see now?

None of these questions can be answered by a single person, besides neurology.  Our neurologist should have an answer to all of these, even if the answer is that we don't know at this time.  None of our other doctors could begin to tackle these.  We were at the mercy of our neurologist and I cannot even put into words the heaviness I felt in my heart knowing it was likely my son had pressure in his brain causing his headaches and there was nothing I could do but WAIT for someone to contact me.

We waited.  And waited.  And waited. After 3-4 days, I sent off another email to our neurologist.  After all, he STILL hadn't responded to my requests for him to call us to discuss Jayson's concerning MRI findings.  He sent in the order and said he would call with results.  That typically happens in 24-48 hours.  It had been weeks.  In the email I updated him on Jayson's pain and let him know that Jayson was still suffering all day every day.  I explained how hard it is to hold him while he cries and promise him Mommy is doing everything she can, when all I can do is wait for him to get back to me with information and a plan.  I said I was also still waiting to go over findings in Jayson's MRI including a new diagnosis.  I cc'd our Comprehensive Care doctor, the queen bee, the magician to makes magical things happen.  Then I waited some more, hoping and praying my phone would ring.

For WEEKS I had taken my phone everywhere with me.  To the bathroom, to the school bus to get Jayson on and off the bus, to his school, to work meetings, to other doctor appointments, to therapy sessions, to church, to social gatherings.  I have carried it in my pocket, arm pit, purse or bra absolutely EVERYWHERE as I hoped and prayed for a phone call from our neurologist.

It never came.

After another couple of days, I got an email response from him.  It didn't answer any of my questions and only made my head spin with more questions.  It was brief, only a couple of sentences and said that he was sorry to hear Jayson was still in pain and he believed Jayson needed a lumbar puncture and he would get one set up.  He said he had NOT yet been in contact with Dr. D our neuro ophthalmologist, despite the fact we had been told they were in contact making a plan together. In response to my question about J's MRI findings, he simply defined Jayson's new condition as a congenital malformation of the brain.  Signed, Dr. L.  That was it.  No answers.  No explanations.  In my opinion, no help whatsoever.  What evidences of pressure are there?  Why does he need the lumbar puncture?  Why a lumbar puncture (LP) over bolt monitoring? In our previous experience with pressure our doctors told us a LP told us very little and bolt monitoring would give us the information we needed about pressures.  And I need a whole lot more information about J's new diagnosis other than it's a brain malformation.  I got more information from Wikipedia!

I was FRUSTRATED.  Of course, I cried.  My whole entire world depended on this man.  My son's very life is in his hands.  Yet he can't call me.  He can't answer my questions.  He can't write more than two sentences.  He can't take the time to connect with me or Mike and let us know what is going on in our son's brain and what their plan is to address it.  We have worked with this man for SIX YEARS.  How can he let us down in our greatest time of need?  We know he's busy, but how can anything be more important than my sweet Jayson???

As I struggled to know what to do, I received an email from Dr. M in Comprehensive Care.  She told us to go ahead and contact neurosurgery.  It was just one sentence, but at least it was something.

So I called neurosurgery.  I had not prepared myself for the experience I was about to have.  I should have known better.  Neurosurgery and I have a LOT of history, and it's never been good.  But I reached out blindly and expected it to go well.  It didn't.

I left a message which was returned the next day.  Their not-so-lovely-at-times nurse called me back and our conversation went a little something like this:

K: Hi Mrs. West.  You're going to have to help me out here because there is a lot I'm not understanding.  You are wanting to schedule an appointment for Jayson, correct?

Me: Yes, our doctors are saying it's time to see NS based on recent MRI findings and evidence of icp.

K:  Okay, well you see, it appears Jayson has not been seen since the summer of 2016.

Me:  Yes, that is correct.  He has been stable until recently.

K:  Okay, well he was supposed to come in the summer of 2017 for a yearly follow up, but you neglected to make that appointment.  Since you neglected the care of your child then, I'm not understanding the urgency for an appointment now.

Me:  (My brain: oh my hell, did she really just say that??!!!)  {in tears}  Oh, well I don't think I knew we were supposed to come in for a follow up.  No one called me.  I didn't receive a post card.  And our care coordinator never brought it to my attention.  You see, I had just had a baby last summer and I was recovering from severe pre-eclampsia.  I was told to keep my summer free of unnecessary appointments and care for myself and my preemie baby.

K: I see, well since you neglected to make that appointment I'm not certain you can see Dr. B.  Besides, this sounds like a cranial issue to me so you should see your cranial doctor, not neurosurgery.

Me:  Well over the summer last year Jayson's headaches came back and we took him to see his cranial doc who only measured his head and said he was fine.  Now we have imaging that says differently and that he had pressure then and now.

K:  Oh, so he was having problems last summer and you still didn't make an appointment.

Me:  We saw his team who said we didn't need to see neurosurgery.  We increased one of his meds and it helped for a couple of months.

K:  Well, I'm not sure how we can help with all of this.  We will probably need another referral and if his pain is managed by medication now, then I don't think he needs to...

Me: (I interrupted her very angrily)  Will you just LISTEN?!  The med only helped for three months. His pain came back in December.

K:  Why didn't you call us then?

Me:  I'll explain if you just LISTEN!  His team thought it was his ears.  He had a bad double ear infection.  It took weeks to get surgery to switch out the clogged tubes.  Then we were told we had to give him time to heal.  The pain persisted so neuro ordered an MRI.  Now the MRI shows pressure.  We've heard conversations are happening behind the scenes but we haven't directly heard from our neuro.  But Comp Care wants us to see Dr. B in neurosurgery.

K:  Okay, well I don't think you can see Dr. B.  But you also see another neuro surgeon Dr. K with his cranial doc.  It sounds like it is his craniosynostosis.

Me:  We don't know that.  How could you know that?  I don't know that because no one has talked to me.

K:  It sounds like you don't really know what is going on.

Me:  No, actually I don't.  That is why we need to see neurosurgery!  And Dr. M said we should make an appointment.

K:  Well, I don't know about that.  I think it's best if I message your doctors and see if they can decide if Jayson needs to be seen and which of his two neurosurgeons he should see.  Does that sound good?

Me:  Yes, I hope they respond soon.

K:  Me too, have a nice day.

My blood was boiling.  But instead of yelling, what did I do?  I cried.  A lot. At work.... in front of a teacher.  Thank goodness we had a relationship and she knows what is going on with my son.  I was embarrassed but I couldn't keep it in.

How is this real life??  How is this okay???  How is this considered GOOD CARE?!  What about Primary's motto "The Child First and Always"?!!  How is this crap happening AGAIN?!?!?!

I was up in arms and felt so helpless.  Neuro wasn't responding.  Comp care was only deferring to neuro and telling us to get in to see Neurosurgery.  Neurosurgery was saying I missed an appointment and my child may not be able to be seen.  I didn't know what to do.  Whenever I have been in this desperate situation I have cried to Dr. M in Comp Care and she makes it okay.  She hasn't helped much yet, but if she knew all that was going on I knew she would help.  She always had.  So instead of writing her another desperate email, I decided to call.  I called and left her a message with her nurse who said she was in meetings all day and would get this message to her ASAP.  Hopefully she would call me soon.  In the meantime I may need to consider taking my son in to the ER to be admitted.  Things would definitely happen then.  I didn't want to expose him to a million of other things, so I just prayed that Dr. M in Comp Care would get back to me soon.

I wish I could end this post stating we got in touch with our neurologist, but we didn't.  I wish I could say that we reached out to neurosurgery and they got us in to see them and we now have answers.  But we didn't.  I wish I could say that once again our Comprehensive Care doctor came to our rescue and helped all involved parties communicate.  But she didn't.  I wish I could say that this experience with Primary's, our doctors, and a crisis was DIFFERENT than our previous experiences, but I can't.  But what I can say is that this frustration triggered so much PTSD it has made it hard to function.  It's like Groundhog Day and I'm reliving a nightmare I can never wake from.  I was stuck.  No where to go, no one to go to.  I knew my son was in constant pain and the cause was likely pressure, which is life threatening, and no one out of our NINETEEN doctors and specialists was stepping up to help us.  This is the kind of stuff you read about or watch on TV.  But I was living it.  AGAIN.  And my son was the one suffering.  It's not okay.  It's never been okay.  Our hospital and doctors can do so much better.  They need to do better.  We HAVE to do better, for Jayson.  He deserves better.

Don't Poke the Bear

I often write with a lot of positivity, hope and optimism.  But sometimes this journey isn't so positive, hope can be hard to hold on to, and optimism is unrealistic.  I really believe in keeping it real, and there have been a significant number of REAL moments lately.  The kind that frustrate, the kind that break you, the kind that make you question everything.  Consider this a REAL special needs mama post.

I've been told I have the patience of Job; I have a lot of patience with Jayson, this medical journey, incompetent people, etc etc.  To be honest, you almost have to have a ridiculous amount of patience in order to stay sane in this special needs life.  Doctors offices, medical billing offices and home health are some of my most frequent numbers called on my phone.  As anyone with experience with these entities knows, very little gets done in ONE phone call with a happy, perky tone of voice.  The same is true for doctor appointments.  I feel like sometimes little can get done until Mama Bear starts to growl.  Well, this mama's teeth are showing...

We had a WONDERFUL visit with our new neuro ophthalmologist two weeks ago.  She gave me hope and comfort that we were going to figure this out and get J's pain under control.  I'm so grateful for that, but the hope and optimism wears away quickly after another few days of seeing your child in pain all day every day.  Answers can't come soon enough.  I don't have much patience when it comes to J's suffering.  I was very glad that J's ophthalmology appointment was shortly after this neuro ophthalmology appointment since Dr. D (our neuro ophthalmologist) was waiting on Dr. J's (our ophthalmologist) examination and thoughts to decide exactly what to do.

The good news is that Dr. J is FABULOUS with Jayson.  He has a way of getting my very challenging child to cooperate with a very challenging examination.  He felt he got such a great look at his optic nerves in the appointment, and that we don't need to put Jayson under anesthesia, which I'm thrilled about!  What doesn't sit well with me is when a doctor questions me and my perceptions as J's mother.  What makes me growl is when a doctor questions my son and his ability to communicate his pain.  We have worked so damn hard for so damn long to get to this point where Jayson can communicate some things with us.  Among these things, the most important to me is J's ability to communicate his pain.  I don't take kindly to doctors discrediting that or questioning his ability to communicate.  NOT. AT. ALL.  I also don't take kindly to doctors questioning other doctors in front of me, without conversing with them.  J's examination showed no optic nerve swelling.  FABULOUS news.  This typically rules out intracranial pressure.  TYPICALLY.  But when has my child every been typical? When I asked Dr. J what would explain the fluid investing the optic nerves bilaterally, he responded that there is no way there is fluid behind in the nerves.  He said the radiologist must have over reached or misinterpreted the images to appease the mother who is voicing complaints of eye pain.

Oh no he didn't.
He did NOT just say that a radiologist overreached to appease ME and my complaint of eye pain.
Holy. freaking. crap.

This doctor has NOT read the MRI report.  This doctor has NOT reviewed the MRI images.  This doctor is NOT trained to interpret MRI images.  Yet, he had the audacity to state that this very skilled radiologist must have over reached or misinterpreted the findings... and to appease ME!  I informed him that the neurologist only listed head pain as the reason for imaging, not eye pain. The radiologist had no idea Jayson had been experiencing eye pain.  Dr. J stated that there must be some mistake because if there is fluid on the nerve there is almost always intracranial pressure, and if there is intracranial pressure there is almost always swollen optic nerves, and J's nerves were not swollen.  I informed him that Jayson is NOT typical, and he tends to be part of the small percentage that is the exception.  Dr. J is not typically our ophthalmologist.  This is the second time we have seen him since ours has been out on maternity leave and has a long wait list to be seen.  So I reminded him of Jayson's past, that he has had long-term severe intracranial pressure with completely normal eye exams without swollen optic nerves.  I reminded him my son had to have a cranial expansion surgery to relieve the pressure and that parts of his skull were completely worn away from the pressure inside his head YET his eyes looked fine.  You're not going to like what he said next.

"How do we KNOW he had pressure?  Did he have a lumbar puncture?  Did he have intracranial pressure monitoring?  No, he didn't. We don't know for certain that he had pressure since these tests were not done."

WOW.  Just wow.  Apparently imaging, symptoms, my son's skull being worn away and my doctors cutting open his skull and expanding it were not enough evidence for him.

I honestly could not believe this doctor appointment that was supposed to give us answers had taken such a bad turn.  I could not believe that a doctor who could work so well with J could struggle so much to listen to me, his mother, and trust in Jayson's other doctors.

I don't like it, but when I get mad I just start to cry.  I can't help it.  I want to yell.  I want to fight.  But instead I cry.  So I cried.

In tears I told him about J's pain.  I narrated a typical day for Jayson.  Not only does he rub his head a couple of times a minute like Dr. J had clearly observed in clinic, but almost daily he breaks down sobbing from the pain.  My son has had two brain surgeries and two cranial surgeries, without crying.  So he's experiencing pain that pushes him beyond his threshold.  That's noteworthy.  I told him about how J's school has called and had me come get him because he was in too much pain.  I told him about how fed up I was with doctors punting him to another specialist or blaming Jayson's behavior or sensory issues as the culpruit because they were too busy or unwilling to look beyond typical causes for his symptoms.  I told him that I can't continue holding my son, while he sobs and rubs his head, and promise him things are going to get better.  I depend on doctors to keep that promise, and they aren't willing to help ease his pain.  He gave the whole, "I'm a dad too, I can imagine how that might feel speech" and I just shut down.  This is also what I do.  I shut down as a coping mechanism and wait until I'm alone to completely fall apart, cry, scream, and cuss a lot.

Fortunately I made it to the car before I fell apart.  As I was getting Jayson in his car seat he grabbed my hand and put it on his head.  I know, baby.  I know.

I called my bestest friend in the whole wide world on the way home, my sister.  She is often my voice of reason.  She comforts me, toughens me up, encourages me, cries with me and knows me better than anyone.  I honestly didn't expect her to become ever angrier than I was about the whole experience.  But she works with radiologists and knows how highly competent and respected they are.  How dare this doctor discredit what a radiologist saw on J's imaging.  It wasn't opinion.  It wasn't interpretation.  It was something he saw on J's imaging. Fluid is clear on imaging.  It is not easily mistaken.  How dare this doctor criticize a professional radiologist and his findings, particularly when he had not even looked at the images himself.  How dare this doctor discredit our other professionals who have worked with Jayson for years.  My sister validated my frustration and said I needed to make a complaint.  This wasn't okay.  She was tired of this.  I was tired of this.  Why does absolutely everything with Jayson's care have to be a fight???!!!

I came home and wrote most of this blog post to cool down and collect my thoughts. I didn't finish it then, so I didn't post it.  I was interrupted by a phone call... by this doctor.

I was surprised to answer and have Dr. J on the line.  Hadn't he had enough?  I certainly had.  I heard him say, "Hello Mrs. West. It's Dr. J.  I just got off the phone with Dr. D (neuro ophthalmology) and I wanted to give you an update of what she says..."  I closed my eyes and took a deep breath.  I knew what was coming.  More of what he dished out in the clinic.  I was certain he was calling to boast and say Dr. D agreed with him and Jayson is fine, the pain is behavioral, he doesn't have pressure, and the images aren't accurate.  I prepared myself to hear this doctor pat himself on the back and tried to preemptively think how I would respond.

But I was wrong.  Nothing in the world prepared me for what I heard next.

"Dr. D met with a team of radiologists and neuro-radiologists last week.  She cares very much about your son and took the time to coordinate this meeting.  They all spent 30 minutes going over Jayson's imaging, both current and past, and they believe there is a lot of evidence to support that Jayson is experiencing intracranial pressure."

My heart sank.  I felt like it stopped beating, honestly.  And like I had been gut punched.  I wanted to say something, but I couldn't because I felt like that air was knocked out of me.

He continued, "There is a lot of evidence in the imaging over time to believe that Jayson has had pressure in his brain for some time, and it is building.  They think this is causing his pain.  And I was wrong.  They confirmed your statement that Jayson has never had swollen optic nerves even with intracranial pressure.  He is a complex case.  What I failed to relay to you is that swollen nerves is just like one out of maybe ten signs of intracranial pressure.  Jayson has many of the others.  I was wrong to imply that it was the only way to tell if he has pressure."

I knew I had to talk.  I had to find a way to respond.  The pressure in my throat and my chest started to move, but it triggered the tears.  Trying not to sob over the phone I managed to say, "Okay.  This is all information that no parent wants to hear.  But I appreciate the call very much. I appreciate the update and that we are starting to figure this out.  This is a much different outcome than I expected.  So what do we do now?  Is someone supposed to contact me?  Dr. D? Our neurologist?  What do we do now?"

He responded, "This is not my area of expertise.  I do want to do a more thorough exam when he is under anesthesia, which is sounds like should be soon since they plan to do a lumbar puncture to test Jayson's pressures in his brain (spinal tap).  I would suspect either Dr. D or your neurologist should be contacting you in the next day or two.  I'm sorry.  I wish Jayson well and will plan to examine him when he is under anesthesia.  If you don't hear from anyone soon, call me back and I will try and message your docs and facilitate some conversation."

My head was spinning.  I was so full of emotion that I couldn't process it all.  All I could do was sob.

The doctor was wrong, and he admitted it.
My son was not okay like he said.
A team of doctors sat down together to talk about my son.
Jayson likely had intracranial pressure.
Pressure in his brain is likely causing his symptoms.
Pressure usually means brain or cranial surgery.
I still haven't heard from our neurologist since the MRI.
When we he call??
What are our next steps?
How can Jayson possibly endure a spinal tap?
How can Jayson be expected to endure even MORE?

It was all too much.  I crumbled, collapsed, and just cried out every emotion until my body couldn't produce any more tears.  I knew I needed to be strong for Jayson, but not now.  In that moment, I was just broken.