A DIAGNOSIS

After 5 years of
wondering
questioning
tests
research
tears
and prayers

Jayson finally has a....

I am still in shock.  I don't think it's completely sunk in.  I still worry someone is going to come back and say, "Never mind.  It's not what we thought."  But a big part of me wants to soak this moment in-- a moment where we have some sort of an answer.  I've dreamed of this moment for FIVE YEARS.  It doesn't seem real.

My baby is no longer UNDIAGNOSED.

We got a call in November from our geneticist's office ASKING US to come in.  I was surprised!  Last time we saw our geneticist he told us he'd follow up with us in 3-5 years.  The last thing I expected was a phone call from his office requesting an appointment.  We set it for December 20th, and I began counting down the days.  I was nervous to hope for anything to come out of it, though.  I had been disappointed by our genetics appointments so many times before, but I really wondered if we might get an update on the research being done on Jayson's MN1 mutation that began last spring.  At a recent pediatrician appointment, our doc told us that there was some progress on the research study, but he wasn't sure how much he could share with us.  Recently I had found more research posted online about deletions on MN1 (Jayson's is a mutation, not a deletion) that definitely stated that MN1 was a craniofacial gene.  When I talked with a genetic counselor about it at a Utah Rare event, she stated it may or may not mean something since the research was based on kids with a deletion not a mutation.  In my gut, I KNEW this was it.  I knew this all meant something.  I just had to wait for our research to be done and shared, and I also knew that took a lot of time.

Finally the day arrived.  I literally had to tell myself that nothing good was going to happen in the appointment to prepare myself for disappointment, but deep inside I couldn't deny my excitement.  Our geneticist Dr. V walked in with a resident and his genetic counselor and he sat on the stool, looked at me and said, "Well, where is it?  Where are your beautifully prepared notes and questions?"  I chuckled and opened my notebook to reveal the page of notes.  "Oh, hand written this time?  Where's my printed copy with pictures?"  he asked with a smile.  Truth be told, no I wasn't very prepared for this appointment like I have been in appointments past.  But I didn't request this appointment, he did.  And I've spent the past 5 years bringing pages of syndromes that could "fit" with pictures of kids with those syndromes compared to Jayson.  I learned through Whole Exome Sequencing just how rare Jayson is.  I learned that he likely had something so rare it didn't have a name or wasn't discovered yet.  There was no need for the pages of printed notes and pictures this time.

I expected him to begin the conversation since he requested the appointment, but it was silent and all eyes were on me.  So I asked the big question, "Where are we with the research being done on MN1?"  He responded, "Let's dive into it, shall we."

His next words will be ones that I will remember forever for several reasons.

He flipped through some notes in the chart and didn't make eye contact as he said, "I am not quite sure how or why I missed the research on MN1 and the mouse model last year.  I am not sure why I was so certain that MN1 was a gene of unknown significance.  It is not.  We know that now and I should have known that then."

Wait, what?!?!  I figured he was making reference to the research studies I recently found online about the deletions on MN1 and how those deletions were inserted into mice and they developed craniofacial abnormalities, just like the kids who had the deletions.  And he admitted to making a mistake last year and not taking the time to truly look into this mutation.  I respected that.  I respected that so very much.

I was completely fixated on him and frustrated I forgot to free up space on my phone so I could record every detail of our conversation.  I wanted to remember it all.

I began to ask specific questions about the study as he pulled out the spreadsheet that was a draft of the data collection in progress.

How many kids have been found and where do they live?

6 kids total.
Soak that in for a minute.
Six kids in the entire world with Jayson's genetic mutation.  That's it.
Wow.
One in Hong Kong, one in France, one in the Netherlands, one in Boston, one in California and Jayson in Utah.
Although Jayson's Whole Exome Sequencing report said he was the first to be found with his mutation, that was not correct.  He was actually the 5th out of the 6.  I'm assuming they were all discovered about the same time and weren't yet recorded in the system.

He said a geneticist in Boston was wanting our permission to discuss and share data on Jayson through an online database, and of course I gave that permission.  He said she was kind of lighting a fire under all of those involved trying to get this research all collected so it can be published. He said he had a couple of sheets for us to sign so that Jayson's medical information and pictures could be published, and that he's aware we've already signed some in the past.  I said, "Oh, I think the ones we signed were to give approval to have all of our whole exomes studied."  I didn't expect his response.

"Well, there's no need to do that now. We have a diagnosis.  We know that MN1 is responsible for Jayson's craniofacial syndrome.  Any other data from Whole Genome Sequencing would probably just confuse us, so we don't need to pursue that."

That's when it hit me.  This was it.  Not a suspicion, a thought or a hunch.  Not a possibility that we were studying.  This was it.  Jayson's diagnosis.

I asked, "I know research can take a while.  Do we know when they hope to complete it?"

"They plan to publish it this next spring."

Seriously???????  I had prepared myself for YEARS of waiting, like is often required.  I prepared myself for many more research studies and questions.  Never in my wildest dreams did I think that we would have a definitive answer that would be proven and published in spring of 2017.  Wow.  I was speechless, nearly in tears.

I asked if it was significant that all of the other children in the study had a de novo mutation as well, like Jayson (meaning it was not passed from either parent, but was a new mutation).  At first he disagreed and said he thought it was X-linked.  I insisted that it was de novo, and he proceeded to look through his paperwork and get on his computer to confirm.  He said, "I don't even know if it's been stated which chromosome this is located on.  I just don't have all of the research."  That's when I responded, "It's on the 22nd chromosome."  He stopped his search on the computer, looked at me and smiled.  "Of course you would know.  I bet you know what part."  I responded, "I used to, I think it's 22q.12.1 but I'm not sure."  He laughed out loud and shook his head.  "Then it must be de novo, you as the mother would know.  So yes, all of the children had de novo mutations.  And you want to know why that is?"  His answer took my breath away, but I understood it immediately.  "That's what we often see in lethal syndromes.  They die with the child so they don't pass on.  Either that or the child has such significant cognitive disabilities that it is never passed on."  Those are words that a mother never wants to hear, ever.  Never ever.  But I refused to dwell on that today.

I asked if that definitely means that this de novo mutation would not be passed on to other children.  He responded, "Because you guys are waiting to grow your family based on this information, aren't you?"  He hadn't heard.  It was my immense pleasure to inform him that we were pregnant, expecting a baby in June thanks to embryo adoption.  He was so very excited for us.  "But you may want more children?"  I explained, "No, I don't think so.  But can other members of our family have children with this syndrome?"  He said yes, it was possible.  He explained that genetic mutations can be passed through the gonads and not the DNA, which was something that I didn't completely understand.  So a de novo mutation can still be found passed through a family, which is unfortunate.  But it confirmed our decision to grow our family in such a unique way through embryo adoption.

I really wanted to know if the other children had medical conditions similar to Jayson's.  On the spreadsheet the doctors shared craniofacial details like small head size, space between the eyes, palate issues, skeletal abnormalitites, etc.  I wanted to know if they had all of the severe health conditions Jayson has experienced.  There wasn't much of that information complete in the chart just yet, but he said it looked like Jayson was the only child to have seizures which struck his interest.  He said, "It makes me wonder if we have a modifier effect going on where Jayson has a secondary gene mutation causing some issues.  I bet a lot of these kids do.  I bet they are all a little bit different but share this craniofacial gene."  That really struck a chord with me and I couldn't wait to share my most recent research and likely discovery.

***BIG NEWS***
I've been wanting to share this information on my blog for a while, but due to the pregnancy and my battle with illness/hyperemesis I just haven't made it happen.  During our neurology appointment last July, we once again discussed the possibility that Jayson's episodes that are plaguing him may not be seizures.  Our neurologist brought up dyskinesia and told me to look into it.  That week I did some research and watched some youtube videos to observe the movements.  It's a movement disorder and the descriptions and videos just didn't match up to what I was seeing at home.  But through my research, I was brought to a page I think I had seen before.  It was a list of epilepsy imitator conditions, including dyskinesia.  I read through the long list and put a mental check next to all of those I had researched.  Every one of them... but one.  I had never heard of Benign Paroxysmal Tonic Upgaze of Childhood before.  Not only did it catch my interest because I hadn't read about it yet, but it had the word "upgaze" in it, and Jayson's episodes include an upgaze.  I immediately saw there wasn't much research about it.  But as I read through the descriptions of the events and accompanying symptoms I got THAT feeling.  The one that told me this meant something.  I searched the condition in youtube hoping to find some videos.  Tears streamed down my face as I watched videos of episodes identical to my son's.  Sobs burst out as I watched video after video of several children who acted just like my child before, during and after episodes that even our most experienced and gifted doctors couldn't understand.  This was it.  This perfectly described Jayson's neurological condition, episodes and events.  Why hadn't our experienced doctors found this before???  Because according to the research there had only be 49 diagnosed cases in the history of the world.  That's why.  Another ridiculously rare condition.  It looks and acts just like epilepsy.  In fact, many of the kids have epilepsy and seizures in addition to these episodes.  But these episodes are unique in that they never register on an EEG nor do they cause any regression or damage found on an MRI.  They are harmless, but incredibly life impacting.  In fact the literature calls them "extremely debilitating" and they cluster up to hundreds at a time, which is what we have seen with J's episodes.
Here are a few details about PTU:

• neuro-opthalmalogical disorder
• upward deviation of eyes in episode cluters with eyes rolled back, chin held low
• begin in infancy
• jerky side to side eye movements- nystagmus
• sleep issues
• developmental & language delays, non-verbal
• vertigo
• hypotonia (low muscle tone)
• episodes typically improve over time
• can coexist with epilepsy
• episode triggers include illness, tiredness, tactile stimulations, eating, loud noises, flashing lights)
• normal EEG's, MRI's, metabolic assessments
• intermittent/persistent ataxia, unsteady gait, frequent falls 
• migraines
• body temperature issues 
• sensory issues, kids like spinning

Those of you who know Jayson or follow us regularly on Facebook would get shivers reading this.  It all fits.  Every little bit.  This explains Jayson's neurological issues to a T.  Ready for the amazing part???  There's a treatment.  Several really, but one that is consistently reported in the literature.  It's a medicine used for parkinson's disease- levodopa.  

I was really nervous to bring this to anyone's attention.  I've recently been accused of doing too much medical research as a parent by a medical professional and it sort of caused some problems.  I talked to our nurse care coordinator about it with our pediatrician's office and she was not so supportive or enthusiastic.  She said, "With all of Jayson's doctors and their experience, do you really think this is something they haven't thought of?"  I told her about how rare it was and she said she still believed it would have been considered.  I felt discouraged and afraid to mention it again.  But weeks later I ended up on the phone with a neurology nurse to set up an appointment.  She told us our neuro was booked months out and even though our visit notes said to follow up in a month, she wondered if we could wait longer.  I told her Jayson had been doing really well, but there was a neuro condition I wanted to talk to our doctor about.  She said for her own curiosity she wanted to know what it was.  I mentioned it and we had a dialogue about it.  She was intrigued herself.  I didn't expect that she would relay it to our neurologist.  But a week later, I got a phone call from our neurologist to discuss PTU.  He said he agreed that it was a real possibility for Jayson.  I brought up levodopa and he said that was exactly why he called.  He was certain enough about it, he wanted to call in levodopa/carbidopa to our pharmacy right away to try.  I was ecstatic and so hopeful!!  A couple of days after starting Sinemet (levodopa and carbidopa) we watched the miracles trickle in.  (I'm crying typing this!!)  Jayson started producing crazy amounts of sounds like we've never heard before.  He started making more eye contact, following some simple directions, responding to his name, craving more interaction, and his mood and energy greatly improved!  His dysautonomia flares calmed nearly completely and his low heart rate elevated.  After about 2 weeks, his upgaze episodes DISAPPEARED.  It was our miracle drug we had always prayed for.  Jayson's school noticed a difference and suddenly his notes home were showing he was 90% on task instead of 50-75%.  They noticed he was happy, hyper and had much more energy.  His stamina improved.  Everyone around us noticed a difference and we suddenly were living this wonderful life we had dreamed of.  Our child's neuro issues that plagued him all but disappeared and he has been his best self we had ever seen!

 

 

So how does this tie in with our genetic visit?  Well, let me tell you :)  Some/many of the kids with this diagnosis are being found to have a particular gene mutation called CACNA1A.  It affects calcium channels in the body.  Want to hear the crazy part?  When I researched the mutation CACNA1A something unexpected popped up.  This is the gene responsible for a condition called Familial Hemiplegic Migraines.  Want to know who has hemiplegic migraines that run in her family?  ME!  They are rare, and either you develop them idiopathically or they run in your family.  I haven family members who suffer from them, so that makes them genetic.  Therefore, it can be assumed, I have this gene mutation.  It can be passed on... to Jayson, perhaps.  When I told my geneticist all of this information, it was incredible to watch him light up!  He questioned Mike about my migraines and how scary they must be.  He had so many questions for me and was so amazed to meet someone with this condition.  He said this HAS to mean something.  This HAS to make sense.  He said this mutation combined with Jayson's MN1 mutation would explain Jayson and his complex conditions!  He was also very interested in confirming I have this mutation.  Our geneticist quizzed me and asked, "Why wouldn't this have shown up in Jayson's Whole Exome Sequencing, especially since we sequenced you as well?"  I responded, "Well, we were looking for a craniofacial syndrome, the main syndrome causing Jayson's problems.  We listed all conditions and at that point we just said he had epilepsy.  We didn't know he had PTU.  And since my migraines didn't relate to anything craniofacial, I don't even know that I listed that as a condition for me.  Every parent and child share many mutations.  The sequencing would only look for, identify and list the ones that seemed significant.  CACNA1A didn't seem significant at the time."  He said, "You're right," and smiled.  Instead of requesting our insurance pay for more testing, we are asking GeneDx to reanalyze our data.  We are so hopeful that they will discover this as a shared mutation between me and Jayson.  It would explain so much and then our search for answers really would be over!!  Again the geneticist looked up at us and smiled,  "You have done a lot of our work for us.  That's how it's been since the beginning.  You even got yourselves genetic testing when we couldn't, and that's why you have answers. And you continue to do our work for us.  We've got some more things to look into."  I'm pretty sure I blushed.

Dr. V said, "Wow, we've got some things to do!  We've got some things to look into and a plan.  And the publication should come out this spring.  Often times with super rare syndromes like MN1 they will include the parents in writing the publication and list them as co-authors.  Given the cultural and language challenges, that may not happen here.  But they will send you a copy before it is published and they will want your input and suggestions for any changes or additions. They may want to add you as co-authors since you guys truly are the experts."  I couldn't believe all that I was hearing, all that was happening. After years of being questioned, discounted, and even accused of being crazy, as Jayson's parents we were instead being respected and referred to as experts.  

I asked what would happen after the research was published.  He explained, "At that point the literature will be changed to reflect that MN1 is a disease causing mutation and not one of unknown significance.  It will be given a name, sometimes using the first initials of the last names of the first kids involved in the study, other times after the researchers.  And then we hope for a treatment involving protein since this mutation involves the proteins."  I asked, "And that's where we as families work to fund research to work towards this treatment like through a foundation."  He added, "Yes, it's unlikely a clinician will want to invest in that research, but you never know.  They'll want to inject that same mutation into a mouse and study it, then add proteins into the DNA and see if we can improve the health of the mouse.  And then we work towards clinical trials with families, if the families are willing.  We often see families who are wanting to change their child's health conditions, but they don't want you changing the personalities of their child, which is a challenge.  They don't want you to completely change their child, which is a strange thing."  I had never thought of that before, and I laughed out loud.  I said, "Oh, I would be that parent.  I want my son's health to improve.  I want him to live a long, healthy life, but I love absolutely everything about him!  I wouldn't want you changing his personality either, which you're right, would be very hard if you are working on healing a child.  That will likely change their cognition and mannerisms.  Interesting."

We signed a consent to share Jayson's information and wrapped up our appointment.  The doctor sat thinking for a moment, then asked, "Remind me what each of you do for your careers?"  Mike shared that he's a city planner for Lehi and I shared that I train and support dual immersion teachers in the Granite School District.  He asked, "You're happy in your careers, I take it?  Helping people?"  "Yes," we both answered.  His next comment surprised me and made me smile, "Too bad.  I was hoping to recruit you to be nurses in our department."  What a compliment.  I can't think of a nicer thing for him to say.  He clearly supports and respects our family and our knowledge about our son and his medical conditions, which is so refreshing.

We walked out of our appointment overwhelmed and glowing.  We had a diagnosis.  Our son's medical conditions are mostly caused my a mutation found on MN1.  We know this now, and the research proving it will be published in 2017.  It's a dream come true.  Last year, Jayson and our family hoped and prayed for an answer for Christmas.  This year, we got it, and more!

As you can see, however, there are still a million questions.  How old are these other children?  What is the prognosis?  What are their health and developmental conditions and struggles?  What does their progress look like?  What can we expect?  Will there be a medical treatment?  How can we connect with these other families?  Are there others out there not yet diagnosed?  Are there any family members of these kids affected?  We don't know the answers to any of these, and we may not for some time, if ever.  A diagnosis when it is this rare does not give you much.  It tells us the exact gene that caused Jayson's syndrome, that is it.  It doesn't really give us answers, and it doesn't really help us with family planning.  It doesn't help doctors understand Jayson and his complex nature.  It doesn't tell us what to expect, what to watch for, what to worry about, what to let go, what he's capable of and what he's not.  It doesn't let us know how long he will live or what the major threats are to his health.  These were our main reasons for wanting a diagnosis.  We still know very little, which is frustrating.  But you have to start somewhere, and it ALL starts with a diagnosis.  Our very first appointment our geneticist told us only 50% of cases get diagnoses and what made me so certain we would be part of the 50% that get answers.  I told him that the 50% who didn't get answers didn't have me as a mother.  We are part of the 50% that got answers and I am proud to say that I've played an important role as Jayson's mother and advocate in getting us there.  I have fought for Jayson since day 1, and I won't stop now.  We need many more answers, and they will come.  Mike and I plan to work hard to find more families.  As we find more families, we get more answers.  We also plan to start a foundation once our syndrome or diagnosis gets a formal name.  Through the foundation we will hire a researcher, fund research, which will result in more answers and a treatment.  It will happen.  With time and collective effort, it will happen.  Jayson will change things, he already has.  Because of Jayson and his other 5 MN1 friends, things will be different for future MN1 families.  He's creating a legacy.  Amazing things will happen, even though we are at the ground level today.
It all starts somewhere, and fortunately for us, our newly-diagnosed story begins NOW.  
Thanks for being a part of it.  

Want to know how you can help?? Share our picture below and find us more MN1 families!  You can share our picture on Facebook or share THIS blog post from earlier this year with the picture.  Thank you so much for your love, encouragement, prayers and support that have got us to this point.  We are so very grateful!

All quotes are paraphrased from memories of actual conversations and not direct quotes.

Big Announcement

Our family has some incredible news to share...

It's true!!

But I know what some of you are thinking... "I thought you guys had decided not to have more children since Jayson's syndrome was still undiagnosed and his condition is genetic?!"

We did.  And we still stand by that decision.  But a miracle happened.  An angel on earth and an angel in heaven made our deepest desire a reality.  It's a beautiful story, and you can read it all here on our Youtube video.

BABY WEST DUE JUNE 10, 2017

Relief

SIGH.
That was a good sigh, a sigh of relief.  The kind that release loads of stress and anxiety with the exhale.
Things are going to be okay.
We have some answers, and they are answers I can handle!

In September Jayson had a couple of scopes.  His ENT scoped his upper and lower airway, and his GI scoped his upper and lower GI tract.  We didn't get great news, but we got news we can live with!

Jayson's GI tract was not in bad shape, but the biopsies later revealed that his system sustained some damage as a result of his long-lasting GI bug he battled for months!  He is on a couple of new medications that will hopefully heal his GI tract.

But for the more important news...

JAYSON DOES NOT NEED ANOTHER CRANIOFACIAL SURGERY AT THIS TIME!!!!

His airways is still a mess, that's the bad news.  But it's still his crazy epiglottis that causes his laryngomalasia AND his tonsils!!  This kid has never had tonsillitis, but the doctor was surprised to see the size of his tonsils!  He said that surgically treating the laryngomalasia again is a little too complex right now and may not give us the results we want.  BUT the tonsils need to go, and that's an easy fix!  We were scheduled to have a sleep study the following week, and when I asked him if we should keep the appointment he laughed and said, "NO! No way.  He would completely fail right now.  His airway is a mess."  That really helped me see the seriousness of his airway.  This could be why he's been desatting, even on bipap!  This could be why his airway looks so small to docs who see it.  This can be fixed somewhat easily, hopefully.  I felt hopeful again.

So we scheduled surgery, and quick.  A week later, Little J had his tonsils removed.  He stayed overnight as a precaution since he's a complex little boy, but he did not have any trouble!  Pain was easily managed; no excess bleeding; no concerns.  That rarely happens!! I was elated!!

He had a good couple of days at home too.  We are all pleasantly surprised.  But as usual, days 5-10 were a nightmare.  Little J was so sad and in pain.  It was really tough to endure, but it was all typical for the recovery.  He didn't require any additional doctors appointments, hospital visits or emergency phone calls.  We were able to manage everything at home!  It's times like these I am ridiculously grateful for his feeding tube!!  I think it helped him have an easier recovery than some!

It's been a couple of months now since his surgery and we are already seeing the benefits!  It's weird... our pulse ox isn't alarming all night.  Our child isn't waking us with sounds of him fighting the bipap or gasping for air.  It's amazing!  He sleeps, he breathes, and all is well.  We feel so grateful that this simple surgery was able to help him so much.

More Rain Clouds

My mortal brain tells me life can't always be like this.
Things at some point have to calm down, right?
They have to get better.  People can't live like this forever.
One day we are going to turn a corner, and it will all be up from there, right?
My mortal brain is silly.
Because that isn't life.
At least, it isn't ours.

I haven't felt much like writing lately.  I've been feeling discouraged and overwhelmed.  And when I haven't been feeling down I've been busy making memories trying to keep me from remembering that's how I've been feeling.  Slow progress is likely to blame for my emotions.  And a realization that this life is always going to be hard. Things won't suddenly get easier for Jayson.  It's hard and it's not fair.  It hurts my heart.

Jayson caught a nasty virus last April that impacted him through June, as our last post said.  Well, things did not suddenly get better.  His symptoms, although improved, continued through July and his O2 needs and desaturations while asleep increased as time went on.  For three months he had been sick.  For three months we had been on high alert.  For three months we did not know how the day would go, how sick he would be, what he would be able to do and when he would get better.  We followed up with his GI doctor to see if we could figure out what was going on.  He informed us just how bad this Adenovirus is.  He told us it has killed kids as medically fragile as Jayson.  He told us it was great Jayson was improving as much as he was.  We were informed that his delayed motility, continued nausea, unstable bowel movements, and abdominal and rectal pain could be caused by a couple of things:
-Maybe he is still carrying the Adenovirus and being affected while he is still recovering
-Maybe the Adenovirus wreaked some havoc and caused some long-term GI damage
-Maybe he has developed some new GI conditions and problems

In order to find out which was the case he ordered a test to see if Jayson was still carrying the Adenovirus or caught another GI bug.  He also set up an appointment to scope Jayson from the top down and bottom up while under anesthesia to look for abnormalities.  A week later we got a phone call.  It was the end of July and we couldn't believe it.... Jayson STILL had the Adenovirus in his system.  Nearly FOUR MONTHS!!  Jayson had been fighting this GI virus for nearly FOUR MONTHS.  It was a relief to have an explanation and to know that he didn't likely develop any new major GI issues and his problems were all related to this virus.  Yet, do you know how discouraging it is to have your child catch a common virus and be hospitalized a couple of times, go through so many setbacks and so much pain for four months and still not be recovering????  It really hit me just how fragile Jayson is.  It may not always be that he's so fragile he's fighting for his life, but he is so fragile that a common illness can affect him so severely that it may take him months or years to recover, if at all.  That can be really discouraging!!!  And I was scared to let him go out and do things, because I didn't want him to catch another virus while he was still fighting this one so hard.  And I was scared to think how the next virus might impact him!  I really don't know if there are adequate words to describe this fear, frustration and anguish.

But it didn't stop here.  There had to be more.  No matter how much I wanted to just recover from a virus and sit tight for a while, there was more.
There were more rain clouds.  Another storm.  And we hadn't even seen the sun.

The last week of July we had another follow up doctor appointment with Jayson's craniofacial orthodontist.  We see him every 6-12 months just to see how Jayson's mouth and teeth are doing with his unique structure.  This visit is typically super quick and almost not even worth the trip up there because there is so little to discuss.  But this time was different.  Our doctor read through Jayson's notes, asked a lot of questions and then did a thorough exam.  He then used a lot of words that I didn't understand.  I'm not sure if it was that the words were new to me or if it was because I was so shocked from the conversation that I shut down.  He explained that in his exam (he used a mirror to look down Jayson's throat and airway) he noticed Jayson's airway was very narrow.  He explained that most children with craniofacial syndromes can have small airways that get incredibly narrow.  But Jayson's airway was completely closed off at the time of his exam, while awake.  He was concerned about what his airway might look like while asleep.  It seemed Jayson's airway was so narrow it periodically closes off.  He asked if Jayson had been desatting.  He had.  While awake or asleep?  Both.  His O2 had been low lately, even while awake.  He had been desatting while on bipap and 5 Liters of O2, and our concentrator doesn't go any higher.  He explained Jayson's palate was very narrow and how it impacted his airway and ability to breathe.  He said that it would be less concerning if Jayson could breathe well out of his nose, but he can't.  He described Jayson's nasal passages as being incredibly narrow and he was uncertain how well Jayson was able to use them to breathe.  He then proceeded to tell us about two invasive surgeries he would recommend.  Distraction surgeries.  With surgerical cuts, surgical breaks in the jaw and facial bones, with hardware and the parents adjusting them.  We were talking about another distraction surgery before our family had fully recovered emotionally from the last.  I'm pretty sure I started shaking and my brain kind of shut down.  I couldn't believe we were having this discussion.  I saw the doctor patiently trying to explain the procedures and demonstrating how he would make cuts on my child's face and reconstruct his beautiful, yet imperfect, features.  I felt like I was having an out of body experience.  This had to have been a dream.  It came out of nowhere.  This can't be happening.

The following days and weeks were rough as I went in and out of phases of trying to process this information and being in denial.  To be able to cope, I told myself that this was only one doctor's opinion.  He has 19 of them, after all.  How could his palate and nasal passages and airway be so narrow and dangerously affecting his breathing yet all of the 18 doctors and specialists had not noticed?  I convinced myself that this must have been a mistake.  Jayson was fine.  We had a pulmonology and ENT appointment coming up where this would be discussed.  We would be told everything is okay.... right?

We saw a new pulmonologist who works in our hospital and in our network.  Our last one we weren't crazy about and it made it very difficult for our doctors to communicate with her since she wasn't in our hospital's network.  We liked our new pulmonologist but the appointment was very much a first-time entry appointment.  It was all about getting to know Jayson, his background and history, and very little about recommended treatment at this time.  He was messaged by the craniofacial orthondontist about his concerns, and so he told us we should get a new sleep study to look at the most recent data before making decisions about surgery.  We got one scheduled for September.

Today we saw our ENT.  The same ENT we have seen since Jayson was 2 months old.  The ENT who has seen his airway dozens of times and scoped him in clinic, in the hospital and in the OR.  This surely would be the doctor to trust.  I was very nervous for our appointment today for several reasons.  I knew we would be likely getting clarification about Jayson's airway and craniofacial concerns; I also was worried this might lead to Jayson getting scoped in his office, which is traumatizing.  Our ENT entered the room and knew right away why we were there. He had received the messages from the craniofacial orthodontist and seemed a little surprised by them.  After some discussion, he decided to examine Jayson.  He examined his nasal passages and his mouth, throat and airway.  He said he was able to see well enough that it didn't constitute a scope in office, thank goodness, although holding Jayson down long enough for this thorough exam was still quite traumatic for him.  Unfortunately, he was surprised to learn that Jayson's nasal passages where incredibly narrow.  And his palate was "impressively" narrow which was likely impacting his airway and breathing.  It was true.  Everything the craniofacial orthodontist said was true.  We conversed for a while about what this means, what our next steps are and where this might lead us.  I held it together quite well for this entire conversation.  We decided that Jayson's nasal passages and airway needed to be scoped under anesthesia to understand truly how this is impacting his breathing, particularly while asleep.  If it's difficult to get a scope down, we will know they are too dangerously narrow and he will need intervention.  Our ENT also mentioned we may want more CT scans of Jayson's nose and palate area, to learn more about their structure.  Also, they may or may not want information from the upcoming sleep study to play into the decision.  I was asked a couple of times what I thought they should do or what I thought about surgery.  I like to be included in decisions, but not in these.  I will never choose to cut open or harm my son.  NEVER.  Don't ask me to.  I asked him to please collaboratively work with our other doctors to make the decisions about tests they do, how to proceed with the sleep study and if they need to treat these conditions.  Mike and I agree that we only want intervention if it will improve Jayson's breathing or keep him safe while breathing or while sick.  If it won't change anything, it's not worth doing.  He agreed.

So now we wait....  We wait for more tests.... We wait for discussions.... We wait for decisions to be made.  And I wait to hear whether or not my son will be going through more pain and suffering in order to perform simple tasks we all take for granted such as BREATHING.  It's not fair.  It's not fair at all.

Hours later now that I sit here processing all that is happening, I'm having a hard time keeping it together.  Why?  Why do things not ever get easier for my sweet boy?  Why must his life be so hard and painful?  Why is it constantly one thing after another?  I keep waiting for things to get calm, yet they never do.  Will we not ever get to that point of stability and calm???  My heart is tired, so very tired.

I'm also having unrighteous feelings of anger.  Yes, I've had these before.  How is it that my son has 19 doctors and specialists, yet we are just NOW at nearly the age of five finding his narrow palate, nasal passages and airway???  He was born with a craniofacial syndrome.  He was born with these features that are common with any craniofacial syndrome.  I know ours doesn't have a name, but should it have to???  He was not examined recently using invasive means.  He was simply looked at closely.  Has he not been looked at this closely before???  We knew my son had a craniofacial syndrome, yet we never suspected craniosynostosis until he was almost three years old.  And now that he's almost five, my son with a craniofacial syndrome is just now having his palate and upper airway checked out?  Really?  Maybe I'm too hard on our doctors.  Maybe I don't understand medicine or the system.  But I do know we can do better.  I do know my son deserves better.  How many more things are we missing?  How many more surprises will our family experience?  It's exhausting to think about.  Again, my heart is tired.

So here we are.  Trying to process  new information and come to grips with the fact our son may be in for more craniofacial surgeries and sooner rather than later.  After doing a little research, I learned that the first surgery we are discussing is not as awful as I originally pictured.  The distractors are internal.  They don't come out of his face or head like his previous surgery.  They do break his jaw in several places which sounds horrendous, but the risks of infection is less and I don't believe there are open wounds for us to care for on a daily basis.  The SARPE looks something like this:

There is another surgery the doctors mentioned involving the mid-face, cutting at the cheeks, bringing things forward and opening the nasal passages, but I think that one would be done after the SARPE if necessary.

We will have more tests and procedures in the upcoming weeks as we decide as a team what is best for Jayson.  We would appreciate and welcome any thoughts, love, support or prayers sent Little J's way.  He is a warrior.  He never gives up, even when I want to.  He perseveres and takes on everything... with a smile on his face.  I know we will get through all of this and anything else that comes our way.  I just wish he didn't have to be so strong.

We have recently had a big batch of good news come our way, which is sooooo needed in our lives right now!!  I hope to blog about it and share it soon!  A new {possible} neurological diagnosis and a TREATMENT which seems to be working may change things big time for our family.  Little J deserves a change!  He deserves to have things be a tiny bit easier for him!  I truly hope with all of my heart this is the break he so deserves.

This boy is my hero.  He fights a lot of battles.  But he wins, every time.  I don't expect the result of any of this to be any different.  He will always win.  Fight on, warrior boy.  You've got an army behind you!!

Setbacks

The number one thing I am learning about this special needs journey is that it's completely UNPREDICTABLE.

There are so many ups and downs, and emotionally that is exhausting.  I allowed myself to get too excited about how well Jayson was doing in February through April.  I got so caught up in the beauty of it that I allowed myself to think that might be our new norm!!!  Seizures were controlled, illness was minimal, neurologically he was stable, and there were no surgeries planned.  Life was uniquely perfect!  For the first time in over FOUR YEARS my husband and I began talking about the future!  Things we might do, where we might travel, how we might grow our family...  But then we stumbled.  Big time.  It shook us pretty badly.  We thought Jayson was stable for the long haul.  We thought he had gone through enough and that maybe he would be able to move forward for a while without many setbacks.  We were wrong.

Through March and April, Jayson seizures started escalating again.  We just noticed them making a comeback, but weren't super worried.  Could be an illness brewing.  Could be seasonal allergies.  Could be a new food we introduced.  Could be a neuro flare up.  Could be all of the spring thunderstorms.  It was hard to know.  But by the end of April, they had reached a level that we couldn't tolerate.  They interfered with Jayson's quality of life, upset him, kept him from sleeping, and clustered all day and night long.  I sort of panicked.  The keto diet had been working!!  What was happening?  We made a lot of calls to doctors.  We took videos of seizure clusters and behaviors before and after seizures.  I edited the videos to make short clips to send to doctors.  We emailed our key players.  We saw the pediatrician to rule out any infections or illnesses.  Nothing.  No explanations.  No response from our team members.  Crickets.  I was getting frustrated.

Just then, the vomiting started.

Either this could be an illness explaining the neuro flare up
Or
This was a concerning sign of intracranial pressure

We tried to first treat this like an illness.  We endured over 24 hours of heavy vomiting.  We endured our child seizing uncontrollably.  We endured him losing consciousness after violently vomiting a couple of times.  We endured the endless diarrhea.

But after 24 hours of all of these things, we knew we had reached our limit of what we could endure at home.  We wondered if it was time to get Jayson checked.  He was completely out of it, lethargic and listless at home.  After a particularly concerning period of non-responsiveness, I decided to check his blood sugars.  48.  They were 48.  It was time to go.

We packed him up and I packed a hospital bag and we headed to Primary's.  The doctor exam showed only mild dehydration and he had stopped vomiting.  They considered giving him some fluids and sending him home, until they got the lab work back.  Labs were clear.  He was in crisis.  He was much more dehydrated than he appeared.  He was in severe ketoacidosis.  It was an admit for sure.

I had two goals of this admit-- get Jayson stable and well, and figure out how to handle treatment of stomach viruses at home on the ketogenic diet.  Here's the problem.  When typical or other special kids get a stomach virus, the suggested treatment is clear fluids such as pedialyte, Powerade or apple juice.  Well all of those things have sugar.  They are not an appropriate treatment for kids on the ketogenic diet.  When a child with epilepsy gets sick, seizures already increase.  We don't want to bring on more by bringing them out of ketosis with a sugar drink.  So we give Powerade Zero, which is sugar free and carb free.  Again, this presents a problem for children with prolonged illness.  NO ONE can survive without any sugars or carbs for very long.  After 24-48 hours of only Powerade Zero, Jayson gets too acidotic which propagates more seizures and vomiting.  Ketoacidosis is a life threatening crisis.  So what we've done in the past is after a couple of days of only tolerating clear liquids, we are forced to switch from Powerade Zero to Pedialyte, even though it has sugars.  Jayson's body goes into acidosis, so we have to bring it out with some sugars and carbs.  After another couple of days of only Pedialyte, Jayson's body starts to get out of ketosis.  This triggers more seizures and sometimes vomiting.  When Jayson catches a stomach virus, his GI system shuts down.  It stops digesting and moving things through, even clear liquids.  It refuses anything but clear liquids for about a week.  Then it takes another 2-3 weeks to tolerate his typical feeding regimen.  Going in and out of ketosis can also be life threatening.  He isn't supposed to do that out of the hospital, yet every time he gets a stomach virus he experiences ketoacidosis, then gets out of ketosis, then we have to bring him back into ketosis... all at home.  It's dangerous.  It's uncomfortable.  It's scary.  It's something I don't feel comfortable with.  So we hoped this hospital stay would help us figure out a way of treating Jayson when he catches a stomach virus so we would know how to safely manage it at home.

Well, we struggled to meet my two goals.  Jayson's illness persisted.  Although he didn't vomit, his diarrhea was impressive, his stomach cramping painful, and his labs and symptomology concerning.  His neuro system struggled.  It triggered a pretty bad dysautonomia flare up.  His hands and feet swelled, turned purple, were ice cold and impossible to warm.  His heart rate was all over the place and erratic.  His blood pressures were very high one minute and very low the next.  His body temperatures were impressively low.  I had to reassure our nurses that this is all within Jayson's "normal" limits during a dysautonomia flare up.  One night his heart rate was getting pretty low and sounded the alarms.  I reassured the nurse that this happens at home, and just asked her to make note of it in Jayson's chart.  What I didn't expect, however, was for it to keep going down... down... down... 30's... 20's... teens... 5... ZERO.

Yes, my son's heart rate hit zero.

At this point, the crazy alarms started sounding.  I checked his placement of his sensors assuming one of them had come off or was not reading.  No... they were all reading.  The nurse rushed back in and we watched Jayson as he continued to breathe in and out, likely thanks to his bipap breathing for him, yet his heart rate would go back up to the 30's, then 60's, then drop down again... to zero...

I was scared, but tried to stay calm.  The nurse mentioned it's a good sign that he's still breathing.  She checked the sensor placement as well, then grabbed a stethescope to listen to his heart.  She looked confused and I asked her, "Is it jumping all over and having long pauses between beats?"  She nodded.  "Yes, it will have very long pauses, then beat a couple of times, then another long pause."  I breathed a sigh of relief knowing this is what I had witnessed at home as I have listened to his heart during these bradycardic events.  I assumed this was just another event caused by his dysautonomia.  I explained to the nurse that he does this sometimes at home.  She asked what I usually do, and I said we usually stir him a little and cause him to wake.  That's what she and I did, and his heart returned to a normal pattern and beats per minute.  My anxiety and blood pressure had to have been through the roof by this point  and it took me hours to calm down enough to sleep, but everything was fine.  Jayson was fine.  But what a scare.

I requested a consult with our keto specialist.  I had low expectations, but boy, she still blew me out of the water.  Our conversation went something like this:

Keto Specialist/Neurologist:  "Hi, I heard you had some questions about the keto diet?"

Me: "Yes, I'm wondering if we can come up with a treatment plan for Jayson since he keeps getting stomach viruses and he has GI and motility issues which make it so he's on clear liquids for a week after vomiting.  Being on Powerade Zero that long makes him acidotic and giving him Pedialyte brings him out of ketosis.  I'm wondering what we can do to balance this?"

Keto: "Yeah, Pedialyte will do that.  Don't give him Pedialyte."

Me:  "But Powerade Zero after 24-48 hours makes him dangerously acidotic."

Keto:  "Um, what is that drink you mentioned?"

Me:  "Powerade Zero.  Grape flavor."

Keto:  "Why in the world would you give him that?  What is that?"

Me:  "Um... you told us in our training that is what we should give him in place of Pedialyte.  And that's what it says in our books and manuals you gave us."

Keto:  "Oh, that's what it says huh?  Okay then.  Well I think it might be best if you try to not let him get sick."

Me:  "Um... we take every precaution, I assure you."

Keto:  "Yeah, getting a stomach virus should be rare.  So it might be best if you could just keep him from getting sick."

Me:  "He goes to school at a special needs school in the most severe classroom.  It's as safe as possible, but he puts everything in his mouth so he's going to get sick."

Keto:  "Maybe you could keep things out of his mouth."

Me:  "Really?  We certainly try!  Why do you think my 4 year old son still takes a pacifier?  To keep his hands and things out of his mouth.  He craves oral stim.  We need a plan."

Keto:  "What do you suggest?"

Me:  "Well another doctor wondered if it might work and be safe to mix half Pedialyte and half Powerade Zero so that he's getting some sugars and carbs, but not a lot.  What do you think?"

Keto:  "Well I think you will only know if you try it."

Me:  "Um... okay thanks."

And that was that.  Helpful, huh?

So clearly, she was no help... as usual.

After 4 days in patient we decided we could manage things at home and work towards Jayson's recovery on our own.  It gets sooooo hard in the hospital to make any changes in treatment.  You have to get orders for everything and get permission to do the smallest things.  We knew in order to get Jayson better we needed to be free from the hospital so we can make adjustments and any decisions regarding his feeds and bowel treatments necessary to help him.

Once we discharged, problems persisted.  His motility was still slow and it took much longer than usual for him to tolerate feeds.  His dysautonomia was still flaring badly.  Seizures were still escalating and we were having to use rescue meds a couple of times a week.  We treated his allergies with a big increase in Zyrtec yet the seizures persisted.  Neither Mike nor myself got sick, so we started to question whether or not this was really a stomach virus.  We tried again to contact our team and neurologist.  After days of no response, I started to get pesky.  I went to the office and insisted on getting Jayson in to be seen.  They made some calls, got us an appointment for a week and an half later, and I finally got a return phone call from a neurology nurse the following Monday.  She spoke with our doctor and called us back to let us know it was a good idea to see ophthalmology again to get the pressure behind Jayson's eyes checked and to get a repeat brain MRI.  We got both of those scheduled.  In the meantime, Jayson started to improve some.  He had a couple of days where his personality came back in between seizures and neuro flares.  We got his feeds nearly back to baseline.  His eye pressure looked great, we saw comprehensive care and our doctor thought he was improving, and then we saw neurology and did an increase in keppra for seizures.  Seizures basically disappeared...
Just as the vomiting started back up again.

I was a mess.  This was bad.  This reaffirmed in my mind that Jayson did not have a stomach virus before.  This was neurological.  He was having frequent headaches and migraines with sensitivity to light.  He was often wanting to lay down with a cold cloth over his head or behind his head.  I got a pit in my stomach and prepared for bad news to come from the MRI.

We got the MRI, and I was more than relieved to see that things looked the same.  Yes, still the same concerning things on the last MRI.  Jayson still has a pocket of cerebral spinal fluid in his brain that we have no idea how in the hell it got there, but no biggie.  It wasn't growing.  Other things were stable as well.  So there was no evidence of increased cranial pressure.  What now??

We were back to days of vomiting, endless diarrhea, seizures, holding urine for over 24 hours, intense stomach pain, motility issues, nearly TWO WEEKS of clear liquids, lethargy, no sleep and misery.  I mean MISERY.  We had Jayson in the ER on three different occasions for concerning looking stool that looked bloody, severe abdominal and rectal pain, concern for blockage and dehydration.  His labs looked worse during one of the ER visits than our last hospital admission, but we were at a different hospital so we got them to discharge us and we continued to watch him at home.

We took him to his pediatrician and he was stumped as to what was causing Jayson to scream in extreme pain unlike anything we had ever heard before.  Then we got some test results....

ANOTHER VIRUS.
A bad one.  Adenovirus 40/41

Our pediatrician told us he hardly ever sees this one.  It's extremely rare and really nasty.

So we had answers.  And considering all the possibilities, this was probably the best possible explanation.  It wasn't intracranial pressure.  It wasn't a progressive condition.  It wasn't a new diagnosis of Periodic Vomiting Syndrome or escalating dysautonomia.  Those are all chronic with very few treatment options.  This was just another stupid virus.  How???  Who the hell knows.  But it would eventually get better.  Eventually.  I hoped.

Well we are finally coming out the other side.  Jayson has basically been very sick and in crisis since mid-April until mid-June.  It has been exhausting and heartbreaking.  I've cried a river of tears and have spent so much times on my knees asking for Jayson to be rid of his pain and discomfort.  He is still not back to baseline with his feeds, but he is getting all formula feeds.  He is still having irregular bowel movements, but we have days of normal.  He is still having unexplained pain, but it's manageable.  But most importantly, my sweet boy is getting back to his sweet, silly, curious self.  That's all I need to comfort my worried Mommy heart.  He's going to be okay.

Little J never ceases to amaze me.  His body has been through quite a lot in the past two months.  His brain, senses, motility, stomach, digestive tract, muscle tone, energy levels, and sleep patterns have all been greatly affected the past few weeks.  Yet, he is bouncing back.  Yesterday he was tackling stairs like a boss.  Two days ago he self fed himself some Kix for the first time in 6 months.  In the last week he has started making new sounds we have never heard before.  Yesterday he went back to school for the first time in months.  He is amazing.  He is relentless.  He is unbreakable.

He may have setbacks, but he always makes a comeback.  Every time.

The past couple of months reminded me that we are never out of the woods.  We never will be.  This is our life, and it won't likely be any different.  It's safe to say that this is as good as it's going to get for us.  And you know what?  I'm okay with that.  We can do this.  We can have a few good months and another few in crisis, as long as I know we will come out the other side.  As long as I know Jayson will keep fighting and will keep conquering, we can live this crazy unpredictable life.  And we will try to live it with grace, with happiness in our hearts and with faith that everything will be okay.  We may live in an undiagnosed world, and we may not have a road map, but God is our tour guide and He is teaching me to be patient, to trust, and to have faith.  With God on our side and Jayson's determination to beat the odds, I think we're going to live a pretty beautiful life.  I'd have to say, it's Uniquely Perfect.

Searching for Mutations in MN1 Gene

Jayson is really struggling right now.  My heart is breaking as I watch him suffer and try and survive this phase of extreme discomfort.  I need answers; and while I think they are on their way, I have to do all I can to get them as quickly as possible.  I NEED to find more families who have a mutation in the MN1 gene.  I need to know what their children look like and what symptoms they have.  I need to know if they have any answers or resources we don't.  I need to know that we are doing everything possible for Jayson.  Please help us find more MN1 families.  Share this near and far.  Answers are coming.  I can feel it. Thank you. xoxo  #mn1mutation #mn1

Renewed Hope- Genetics Update

 

Genetics.  One simple word is associated with so many thoughts and emotions.  The most common emotion is likely frustration.  That is sort of where we left off.  Our geneticist was not interested in looking into Jayson's two genetic mutations found in our Whole Exome testing.  It was not worthwhile or profitable for him to be interested.  I understood, but I didn't like it.  After getting results that didn't clearly give us answers, I found myself at another crossroad.  What do we do?  Do we continue pushing for answers and obsessing about finding a reason for Jayson's health problems when it may never come?  Do we invest all of that time, effort, and energy when it might be for nothing and waste precious time we have with our son?  Or do we take a break and accept what doctors have been telling us---we might never know?  I have felt so passionate about this search, so certain we would find answers.  It seemed wrong to take a step back.  But looking at where we were, what our doctors wanted us to do, and the fact we have been trying to be incredibly compliant in the medical world the past couple of months, we felt pressured to take a break.  I have been feeling very unsettled about this decision, but also very out of control.  There are so many players and factors... I felt I had to concede.

At the end of February we had our second annual Utah Rare symposium.  Oh my, it was just as good as last year's!  Last year's symposium was when we got connected with GeneDx, the lab that said they would run Jayson's Whole Exome Sequencing.  We made connections and learned so much.  It really empowered us as rare parents and advocates.  At the end of this year's symposium, I felt empowered and encouraged once again.  I couldn't take a break.  I just couldn't.  I can't stop fighting for Jayson and answers.  It's not who I am to give up, step away or take a break.  A geneticist from our children's hospital spoke and I knew he worked closely with our geneticist.  I found him after the symposium and asked him some questions.  I explained our current situation.  I explained that one mutation Jayson had was on MN1, and he was said to be the first child with a new mutation on that gene.  We had since found out there is another child whose lab results in California state he had skeletal abnormalities, seizures, neurological conditions, and craniofacial features.  I said that Jayson and this child has the exact same variation number, and that I felt that had to mean something.  I asked him if that alone was enough to constitute further investigation?  I asked him what I should do since the lab was not cooperative in helping me connect with that other family?  I asked if I really should take a break as suggested, or if we should try and find this other family?  He told us since that variation is exactly the same and they share similar conditions that was definitely worth looking into.  He didn't recommend taking a break.  He asked who our geneticist was and why he wasn't interested in pursuing this.  Since our geneticist is his colleague and close friend, he acknowledged how busy he is and may be focusing on some other families right now, but he encouraged us to write him an email and restate these facts.  He gave us his own contact information as well as the contact information for a lab that may help us with Whole Genome Sequencing.  He told us not to give up, to keep fighting.  That was exactly what I needed.

Things have been so busy that I hadn't been able to make a plan, do research, and make contacts just yet.  It was sort of my plan for the summer.  I had no idea that my world was about to change very, very quickly.

I was at a special needs Family Leadership Conference this past week in Washington DC.  I missed several calls, including one from our pediatrician's office.  I called our nurse care manager back on Friday, April 1st and left her a message.  She returned my call and we discussed business-- what doctor visits were coming up, which needed to be made, which procedures needed to be scheduled and when, etc.  As we were wrapping up our conversation she said, "There's one more thing..." 

She told me that GeneDx had contacted our pediatrician and said they had been looking into the two gene mutations found on Jayson's Whole Exome Sequencing.  I expected her to say that something new was found, because a lot of times they will rerun the DNA after getting new information or technology.  But I was wrong.  I was never in a million years expecting what I heard next.  "They have been studying the mutation on MN1... and they found several more families with this same mutation all over the world, including a couple in the Netherlands.  This may in fact be a significant gene.  They sent photos to Dr. T of some other kids who have this mutation..." 

I literally held my breath.  I was so scared to hear what she might say next.  "And what does Dr. T think?  Do they look like J?"

She continued, "He thinks they look just like Jayson."

I started to cry.  I could not believe it.  Wow.  Just wow.

I held my breath again.  What are we going to do about it?  Please tell me this might mean something and we can do something about it!! 

She added, "GeneDx asked for photos of Jayson and to have open access to all of his medical records.  They are interested in starting a research study on this gene.  We will have to find out what kind of consent form we need to have you sign.  I'm assuming you are okay with giving consent?"

In between sobs, "Yes!! Yes, of course we are!  I'm crying.  I cannot believe this!  I know that this still might not mean anything.  This might lead to a dead end, but it might be something!  And least we are moving in a good direction.  At least something is happening!!"

She said Dr. T already sent an email to our geneticist.  Our geneticist is extremely busy and terrible at replying to emails.  Just as the nurse and I were discussing that it may take days or weeks for him to respond, she said she got an email.  It was from our geneticist!  He was not super supportive or optimistic, but was willing to cooperate.  He explained he still believed this to be a gene of unknown significance and unless there is some new information, he still believes it is not significant.  He stated he was not interested in any way in researching this gene, but if GeneDx wanted to fund and head up the research, he would send them anything they needed about Jayson.  I'm not certain how much Dr. T told him, but clearly there is new information!!  Our nurse care manager told us she is going to follow this really closely.  She promised me she will not let this fall through the cracks.  She said we could be on the front lines of discovering a whole new gene and syndrome.  Jayson could have been the first, and it could result in answers for many families.  This could be it.  This could be the start of our genetic journey.

Ironic this happened on April fool's day, isn't it?  But it's no joke.  April 1st may be the day we remember forever.  This may be the day that changed everything.  This may be the day we started to receive answers and began a new journey.  April 1st may be OUR day.

As I began to process this new information, I had a new realization.  Immediately my eyes welled with tears.  I turned to Mike and said, "Mike... if we can determine in the next couple of years that MN1 is the gene responsible for Jayson's conditions, we can have more kids.  MN1 was a de novo mutation.  It was fluke and would not happen again."

We couldn't stop smiling the rest of the day.  We may be on the verge of answers.  We may be able to grow our family.  We may be able to live our dreams.  This may change absolutely everything.

We picked up our niece from day care and headed to the zoo.  Mike and I were smiling ear to ear as one of us pushed Jayson in his wheelchair and the other pushed June in her stroller.  We were thinking the same thing.  This could be our family in a couple of years.  We never dared to dream that we could have more children.  Mike looked at me and said, "This would be perfect, wouldn't it?"  Yes Mike.  Yes it would.

Please pray for our family, the researchers, the lab GeneDx, the doctors involved, etc.  This is a HUGE process with many people involved.  I have already learned about the frustration involved with research studies.  Families are usually the last to be informed about updates and findings.  There is a lot of effort in trying to change that, but for now that's how it is.  I know it will be hard to patiently wait for possibly years for answers, but we will be praying hard that they come.  Until then, we have so much HOPE.  Our hope and positivity has been renewed.  With this news and the fact Jayson is doing so well right now, we are in a very good place to wait for answers.  And in the meantime, I will do the little things I can.  I plan to use social media to try and connect with this MN1 families.  I know science and medicine have to do a lot to "prove" something.  But all I need is to see pictures of these children and learn of their symptoms, and I think that is enough for me to make my own conclusions.  We will need your help to try and spread the word and find these families, but I'm optimistic that it will happen. 

I have to say a HUGE HUGE THANK YOU to GeneDx.  I have been shocked and amazed to learn there is a lab that is so patient and family focused.  They make testing affordable.  They want answers for families.  And now we learned they don't stop looking for answers.  Our hospital and geneticist were not able to get us testing.  GeneDx did it for us.  Our hospital and geneticist were not able to investigate the significance of the findings.  GeneDx is doing it for us.  This lab is literally changing lives and contributing greatly to the medical world and precision medicine.  I cannot speak more highly of this lab.  I encourage anyone who is feeling lost in this undiagnosed odyssey to reach out to GeneDx.  I promise you will not regret it!!

Thank you for your continuous prayers, thoughts and encouragement.  I know without them, we would not be where we are.  I don't know what exactly may be in our future, but I'm fairly certain it will be amazing.