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.