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.