Serendipity

I woke up this morning with feelings of excitement as we were about to embark on a new experience I had only dreamed about.  We were scheduled to attend a national conference for those who share a medical diagnosis.  This was one of the great experiences people have shared in my special needs circles, but due to Jayson's lack of diagnosis, we have not been able to know just what it might feel like to instantly bond with a room full of people who have a shared diagnosis with shared experiences.  This spring I learned of the the Childrens Craniofacial Association.  They hold annual conventions, and it just so happened that this year's was in Salt Lake City, just 30 miles from our home!!!  I discovered this convention days after the registration closed.  I sent an email asking to be put on the waiting list.  I had no idea that we would be invited to attend!!!  We were thrilled, but nervous as we wondered how much we might have in common with people with various craniofacial diagnoses.  Certainly we would be the only MN1 patients; how much would we have in common with the other craniofacial families? 

We were welcomed with open arms and we started having great conversations with families the second we arrived.  We shared an elevator with one fun family, and ironically we met up again minutes later at the same elevator.  As we were about to enter and share another elevator ride, they asked us if we had participated in the research project yet?  They told us they would love to ride with us again, but we better go check it out because it involved cutting edge technology and was a neat experience.  We left the elevators to find a room at the end of the hall with a couple of tables set up and a man sitting at a laptop.  There were no other patients in the room.  We asked if this was the correct location for the research study and he thanked us for our interest. 

In that moment I had no idea that we were in the right place at the right time, and that very moment was the reason God ensured we would attend the convention.

The doctor asked us what Jayson's diagnosis was.
I responded, "So it's an ultra rare craniofacial syndrome.  It doesn't even really have a name yet.  He's only one of 11 in the world, so I doubt you've heard of it.  It's a mutation on gene MN1."

Doctor:  "MN1?  I... uh... actually I am familiar with it."

Me:  "Really???  It's so rare, I really didn't think anyone would know what it was.  It is currently being researched and we were told a paper should be published any day declaring this mutation a disease causing mutation and identifying a new craniofacial syndrome."

Doctor:  "Who is doing the research?"

Me:  "Our geneticist is involved a little, but a geneticist in Boston is heading it up."

Doctor:  "Do you know her name?" 

Me:  "I don't off the top of my head.  But I can find out."

Doctor:  "Okay. Come have a seat."

We took some time to fill out some forms agreeing to allow them access to this medical information and the pictures they will take of Jayson and our family.  As I finished up a form I hear his voice softly say...

Doctor:  "So I think it was actually my paper that discovered MN1."

Me:  "What????"

He had my full and complete attention.

Doctor:  "Yeah, I authored the paper on my patient.  She had tumors and NF2 but I knew there was more going on with a craniofacial syndrome so I..."

Me:  "What is your name??"

Doctor:  "Pedro Sanchez."

Me:  "Hold on."

I grabbed my phone and opened up my bookmarks.  Clearly the only medical paper documenting MN1 as a suspected craniofacial gene was saved on my phone.  It was about an MN1 micro-deletion.  I pulled it up and zoomed in.

Oh. My. Gosh.

Sure enough, it said Pedro Sanchez.

I lost my ability to talk.  I got dizzy and light headed as a warm feeling came over me telling me we were here for THIS REASON.

I grabbed my mouth as I let out a quiet sob.  I took a deep breathe and looked this amazing doctor in the eyes.  What could I say to him?  Does he know what he's done?  Does he know what he means to my family?  To many other families?

Tears streamed down my face as I spoke a mile a minute.  I could not contain my emotion, not at all.

Me:  "Do you know how much you mean to us???  Like, you have changed our lives.  My son has a diagnosis because of you.  He went five years without a diagnosis.  Our doctors and our own geneticist told us we wouldn't likely ever have a diagnosis, that 51% don't.  I was determined.  I was crazy.  I was a research addict and I was certain we would discover my son's genetic syndrome.  Insurance would not cover Whole Exome Sequencing, so we were fortunate enough to get connected with a lab who provided the opportunity to get our sequencing done which revealed two genetic mutations.  Both were labeled mutations of unknown significance.  Being the crazy mom I am, I researched and researched and researched some more.  I found your research study.  I read it over and over and I had the strongest feeling that it MEANT something!!!  I brought it up to our geneticist at our appointment, and he told me it didn't mean anything and that Jayson's mutation was not likely clinically significant.  I write a blog and use social media to help us get a diagnosis for Jay, so I created a graphic and had it shared far and wide trying to connect with other families who shared this mutation.  I KNEW it meant something because of your paper!!  I wanted to find other families to prove it.  A few months later we got a call from our geneticist that he wanted to meet with us and that we were right... it DID mean something.  Jayson's mutation WAS clinically significant.  They found others with the same mutation.  Mice in your study demonstrated cranial and palate anomalies.  Your paper suggested this was craniofacial gene and a geneticist in Boston decided to head up a paper written on Jayson and five other children in the world with this mutation.  We got a diagnosis because of the work you did.  Do you know that you are changing lives and affecting families in this way?  Your work means everything to us.  Without you, we wouldn't have a diagnosis.  We wouldn't be here!!  Do you even know that??"

Tears just kept coming.  I couldn't control them.  I was living a dream I never dared to fantasize about.  I unexpectedly met the man who DISOVERED Jayson's craniofacial condition.

Holy. Freaking. Crap.

I was worried I may have scared him.  I said a lot and I was certain I had makeup streaming down my face, and my rate of speech probably made it difficult to understand all I had to say.  And was I acting like a crazy teenage girl having the greatest fangirl moment of her life?  Umm yeah.  I really was.  But his pause wasn't out of criticism, but more likely his attempt to process all that had just happened in the past couple of minutes.  I saw his eyes welling up as well as he searched for words.  He got out,

Doctor:  "I have never met another MN1 family.  Ever.  I knew there were likely hundreds of MN1 patients we haven't identified due to limited access to testing, but I didn't know about there have been others recently identified with MN1.  I didn't know about the current research paper in progress.  And I didn't ever think I would see an MN1 patient here today.  I didn't know if I would ever meet another MN1 patient."

I started crying again.

Not only was it a complete dream come true to meet the man who changed our lives, but we learned that this moment completely changed his life too.  Meeting our special son was a moment this incredible doctor would never in his lifetime forget.

I shook my head in disbelief.  Is this real life right now???  Is this really happening???  I knew this was divine intervention.  I knew this was predestined.  I knew this was arranged by God.

His walls came down and our professional relationship transformed into a friendship.

Doctor:  You are the reason I came today.  There is a higher power behind this.  I was meant to meet your family today.  That is why I am here.

No doubt about it, doc.  No doubt.

I teared up again as I saw the way he observed my son, soaking in every little sound and mannerism.  He told us how incredible he is and he told us we were making history too, by being there, by participating in the research project that would help other families be diagnosed.

We were a part of something sooooo much bigger than us today.  This was an act of God, and many lives will never be the same because of this miracle.

We told the doctor more information about Jayson and he laughed saying, "Wouldn't it be amazing if we found out that "Spinning" was an MN1 thing, that all MN1 kids love to spin."

We have wondered that very thing!!!

The conversation flowed among us as we discussed the status of the research, the amazing MN1 family we had been in contact with, the future MN1 patients we hoped to all meet and the dream that one day his project and technology would be used to identify other MN1 families in the future.  That one day, we might be in the database and have a large group of patients.  And how amazing it would be to find older patients who could give us advice and peace of mind and an idea of what to expect.  And how we were all changing the future that day.

We told him about our desire to start a foundation for MN1 and in order to do that we needed to find other families.  We have big plans and hope to make them reality.  He told us we would need a lot of help and support in our venture, and that passionate parents like us are the perfect ones to do it.  He offered his support and resources and we exchanged personal information.

We've been stagnant for a year and a half waiting for the research paper about Jayson and other MN1 patients to be published.  We haven't had updates and we feel like we aren't yet able to move forward.  But today was a huge step forward.  Today got us back on track and refocused.  Today is a continuation of our story and journey, and it's about to get real.

I do want to point out that the research study Dr. Sanchez did was on a patient with an MN1 microdeletion.  Jayson has a MUTATION.  They are different things but on the same gene.  Both have affects on the craniofacial structure and have similar symptoms.  Our new MN1 friends we became in contact with months ago have a son with the MN1 DELETION and not the mutation, which explains why the other boy is higher functioning that Jayson.  We learned that the kids with the mutation have more complications than those with deletions.  I cannot WAIT to get my friend in contact with this doctor too!!!  Her son likely has the same deletion as this doctor's patient.  She is going to die from excitement!!

I also want to point out that the current research project the doctor is doing now is creating software that can identify craniofacial syndromes by taking pictures and scanning the different facial features in a database.  This could help thousands of families get a diagnosis without having to pay $20,000 for genetic testing.  This is huge!!!!

We couldn't wait to get pictures of Jayson and the doctor.  He was equally as excited.  He expressed that these moments don't often happen, when a clinician or researcher learns of the impact of their work.  They don't often have experience like these or hear stories like I shared explaining the impact.  He asked if I would mind writing it down.  He wanted to remember this moment forever.  So do we.

The climatic moment was when Jayson grabbed Dr. Sanchez's hand during a picture.  He doesn't do that lightly nor often.  I think he knew this man was special and this moment was one we will never forget.

I'm still shaking my head as I write this.  How is this really possible?

Do you know the odds????

Let's summarize:

Jayson has an ultra rare genetic syndrome.  When we originally learned of it, we were told he was one of 5 or 6 in the world.  It has now grown to one of 11 or 12.  IN. THE. WORLD.  In the HISTORY of the world.

There is only ONE research paper published about craniofacial aspects of the gene MN1, written in 2011 by a doctor who worked in California.  The author/doctor has never heard of or met of another MN1 patient over the past 7 years since his paper was written.

Yet, we met today, in the same room, at the same convention, thanks to the recommendation of elevator buddies.

This was no coincidence.

This is beyond serendipitous.

This is fate.

And I am so unbelievably grateful.

I cannot WAIT to see where this moment takes us on this crazy journey with Little J.

With Jayson, I've come to learn to EXPECT AMAZING.

Always.

**The conversation is documented as remembered and isn't an actual dictation of what was said

Valiant and Broken

I must confess, I have been rather emotionally vulnerable about sharing our journey, but I have rarely been spiritually vulnerable.  I think I need to be.  I want others who are feeling my pain to know they are not alone.  I also hope those who have misunderstood gospel truths as I have can learn from my painful experiences and know you can be both valiant and broken.

I am a member of the Church of Jesus Christ of Latter Day Saints.  Some call us LDS and others call us Mormons.  I was raised in the church, although my family history has not always been active in the faith.  Growing up I was taught an important principle—Be obedient, be righteous, make good choices and you will be happy, blessed and rewarded.  Good things come to those who are obedient and righteous.  I lived by these principles my whole life.  My mother told me to learn from her mistakes so I can preserve myself the heartache caused by wrong choices.  I grew up in my church and home thinking pain was caused by wrong choices, disobedience and sin.  Of course, I wanted happiness! Of course, I wanted joy, peace and blessings.  I lived a righteous life and dodged the bullets of serious sin so that I could reach the ultimate goal of a righteous LDS member—marriage and sealing in the eternal house of the Lord, our temple.  I achieved a temple marriage.  This meant everything in my faith and I expected joy, rewards and blessings for my righteousness.  My understanding of the promises and covenants of the Lord were flawed, however.  I fear this is the understanding of many members, those who aspire to marry in the temple, as well as those who have achieved this righteous goal.  Righteousness does not always equal happiness.  Worthiness to be in God’s temple does not mean freedom from life’s most terrible heartbreaks.  I wish these principles would have been taught to me when I was young.

I have struggled the past few years with understanding my heartache that came with attending church, religious meetings, and the temple.  I almost feel a sense of guilt and shame.  I MUST have done something wrong to deserve the painful and diffidult life I have.  Surely, I must have a need to repent because I endure heartache and suffering that accompanies being the parent of a medically fragile child who will not live a full, happy or healthy life.  I thought I was worthy of a happy life and that I had made righteous decisions; but since I am experiencing daily heartache, I must somehow not be worthy of the same blessings I was promised as a child.  I know others’ trials and heartache are rarely evident as they sit on a pew at church, but I couldn’t help but look at these beautiful families who are sealed together for eternity and they looked happy.  Their children were breathing without oxygen.  None of them had feeding tubes delivering their nutrients.  They appeared to be seizure free throughout their meetings and on their walks to and from church.  They were blessed with health for their obedience.  Why weren’t we receiving the same blessings?

Clearly this thinking is flawed, but unfortunately this message is still being preached.  Our worthiness depends on our righteousness.  Our happiness depends on our obedience.  Heartache and despair are of the devil and come from iniquity.  That is what many of us have been taught.  And it is wrong, so so wrong.  I don’t want any other righteous LDS member to believe this false doctrine or endure the heartache I have felt over the past few years.  Righteousness does not mean a free ticket through life’s most heartbreaking trials.  Good people endure bad things.  God-fearing people will experience death, disease, pain and suffering.  God does not give people difficult challenges based on their obedience or lack there-of.  We are on this earth to experience strife and tribulation.  We agreed to being tried and tested in the most difficult of ways.  We wanted to learn and grow on this earth and to make our way back to our loving Father and Savior by enduring to the end.  THAT is gospel.  That is the truth.  None of us are preserved from trials and strife; yet, we all are experiencing our tribulation in diverse ways, and it isn’t dependent on our righteousness or obedience.

I have confessed my spiritual misunderstanding about heartache coming from unrighteousness to very few people, perhaps no one.  But today, that false doctrine was taught in my own home.  Due to my son’s very poor circumstances, he is unable to attend church and we are unable to attend sacrament meeting as a family.  We are so blessed to have the sacrament brought to our home following our church meetings, so we can partake of the blessings of the sacrament despite our circumstances.  The past few months, we have benefited from having many young men and women into our home as the men bless and pass the sacrament and the women share an inspirational thought.  They have uplifted us and fed us spiritually.  Unfortunately, today was not as uplifting.  In fact, today’s message spiritually devastated me.

A scripture was shared in isolation and out of context and it read, “And if ye have no hope ye must needs be in despair; and despair cometh because of inequity.” (Mosiah 10:22 in the Book of Mormon).  As this scripture was read and testimony was born claiming that if we are in despair and without hope it is because we are sinning and need to make changes in our lives, my son had a burst of pain.  He began screaming, thrashing, and grabbing his head due to his brain experiencing a large amount of intracranial pressure.  I went to him and pulled him onto my lap as he continued thrashing and started to scratch, bite and pull my hair due to the pain.  I couldn’t help but break into sobs, not only from my son’s suffering, but also from mine upon hearing that incorrect teaching.  It is like my spiritual insecurities were obvious to the public at that moment and this scripture had been poured into my open wound.  I could not let it burn me inside, and I couldn’t let these young people in my home go on believing this false doctrine.  I reached a breaking point and I started cry-yelling.  I sobbed and yelled that THIS is what despair looks like, holding your screaming child who endures this level of pain every single day while nothing is being done to treat it. I feel hopeless and it has NOTHING to do with iniquity.  My son is suffering every day and I did NOTHING to bring that upon him.  His soul is perfect and he has done NOTHING to bring this upon himself.  I cried and bore MY testimony that sometimes despair comes into our lives and it has nothing to do with iniquity.  Pain, heartache, suffering and despair happens to the righteous as well.

The room was silent with the exception of my son’s screams.  After 30 seconds or so, the young men started talking.  One shared that actually it’s the contrary; tribulation often falls upon the valiant, but God promises to not leave us comfortless.  EXACTLY.  That was right on.  That is what God teaches us.  The other young man said that we are blessed for being valiant and enduring tribulation, but it may not always be in this life.  Sometimes those blessings come in the next life.  ALSO TRUE!  I felt the spirit comfort me and was so grateful; for these young men for sharing with me the gospel truths I needed to hear to get me through that challenging experience in my home. 

The hardest thing about this experience was not the common misunderstanding that was taught through a scripture devoid of context by an inexperienced youth.  It was understanding how the adult leader, who was also in my home and had been in my home over two dozen times, allowed that false doctrine to be taught without intervening.  How could a spiritual youth leader witness our suffering but not model to the youth in her presence what it meant to mourn with those who mourn and comfort those who stand in need of comfort as I sat there sobbing, broken hearted while holding my pain-stricken son?  Perhaps she, too, had been taught this false doctrine and felt that my son and I deserved the suffering and despair we were so obviously experiencing.   

I do not want another suffering family to endure the heartache that comes from believing these lies.  I can’t bear the thought of more youth growing up with the belief that if they are righteous, devastation will not fall upon them or their families.  Bad things happen to good people.  Some of life’s hardest trials fall upon God’s valiant servants.  There will be times when it is hard to feel hope. Being righteous does not preserve you from trials and tribulation, but it may help you endure them.  What IS true doctrine is that God and our Savior will not leave us comfortless and that all that we experience will be for our good (John 14:18, Romans 8:28).  I know this.  My heart may be broken, I may at times feel despair and my happiness may depend on the health status of my son, but I would not change the heartache I have endured being his mother.  I have become a better, stronger, more humble and empathetic person because of my trials.  My despair has brought me closer to my Father and savior; it has truly been for my good.  If I was able, I would take my son’s suffering in an instant, but I would not change my own for it has made me a better person, friend, neighbor and mother.  Let THAT be the message we spread to those suffering.  The Savior and Father are aware of those suffering and They will not leave them comfortless.  Their suffering will make them stronger in this life and/or the life to come.  Let THAT be the message we deliver to our youth.  Your lives will not be heartache free by being obedient or righteous.  Instead, your lives will likely be full of trial and tribulation.  You may at times feel that your circumstances may break you.  You may feel complete and utter despair.  But out of the despair comes faith, and out of strife comes an inner strength you didn’t know existed.  Tribulation will refine you and make you a better version of you.  And all the while, you will feel God’s love and comfort.  THAT is the gospel truth.  I have lived it, I have seen it, and I know it to be true.  This in my testimony, in the name of my Savior and source of hope, Amen.

I fell in love with this picture a friend shared the other day titled The Master's Touch by Greg Olsen.  I couldn't help but see ME in this girl sitting next to Christ.  She is clearly burdened by her earthly studies, just as I am overwhelmed by the many medical journals and resources I have read and searched trying to find answers for Jayson.  He sees me exhausted, full of fear and despair, and heartbroken.  Yet, He will never leave me without His comfort, evident by the touch of the Master's hand.  This picture reminds me of the One supreme source of knowledge, the One who knows all-- our Father in Heaven.  I can lean on Him when my earthly knowledge falls short and feel I am not capable of making medical decisions for my son.  And my Savior will be with me through all of the difficult days ahead, every step of the way.  

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.