Time for a Break

This life is hard.  In some cases, extremely hard.  It is often cruel and unkind, and the rare medically fragile world does not have rules.  Just when you think you understand the game and how to play, the rules change and without fail, you lose.  Every. Time.  The past couple of months have been a perfect example of this.  There are things that have taken place that completely took me by surprise.  They threatened our family, our happiness, our son and all of our well-being.  We discovered there are more enemies than just an undiagnosed genetic mutation in Jayson's DNA.  As a result, we have found the need to take a step back from some things for a little while, including the blog.  Jayson has been doing well.   We will update the blog as soon as we feel things have calmed down.  Thank you all for your continuous love and support.  We could not do this without you.

We will get through this.  I guarantee it.

Genetics Appointment- Another Disappointment

I waited so long for this moment... for the appointment we would have AFTER getting Whole Exome Sequencing results.  If only I knew it would be anticlimactic.  We don't have answers. We have nothing.

To start, I’m going to just say it like it is.

Our geneticist literally did nothing in researching J's two gene mutations, and he said there is not much more he can do for us and will touch base with us in three years. He previously told us, the hospitalist and our doctors he would be prepared to discuss these two gene mutations with us at our appointment, what they mean, what he found in research, what research he may perform, etc. He did NOTHING. Instead he was asking me about the research articles, studies, lab results and cases involving these two genes, and I had already emailed them to him to read! He was not even familiar enough with these mutations to have a conversation about them. Even though there is not a lot of information about these two mutations, he still agreed that either one of them very well could be the cause of Jayson's conditions. However, due to the lack of information about these two genes, he does not believe it's worth his time or research to look into them further at this time.  Instead, he told me to keep researching, keep using social media as a resource and keep him apprised of what I find, and I just might get a diagnosis for my son or find other kids like him. Thanks. My doctors last week told me to take a step back and be Jayson's mom instead of his doctor, and trust our geneticist to be our doctor who will get us answers. Clearly that it isn't going to happen. That responsibility was once again given to ME by our own geneticist.

Not only do I have the weight of trying to find a diagnosis back on my shoulders, but fear has again entered my heart. Our geneticist believes SMARD is unlikely, but still suggests we consider it and do some more testing. He said he would not be able to sleep if he were in my shoes given my son's concerning respiratory conditions and possible connection to SMARD, so an EMG is necessary. A new concern was also brought up that I can worry about---Jayson's spine, gait, and some ambulatory concerns. As a result, J got some more x-rays and we are adding Jayson's 19th doctor to our team, an orthopedist.  The x-rays revealed Jayson does in fact have a rare type of scoliosis that is usually found in neuro-muscular diseases.  It’s mild, but another thing to worry about and monitor.

After this appointment, I felt stressed, discouraged, scared, broken hearted, frustrated, lost, overwhelmed, uneducated and very alone. I'm so ready to be DONE and accept things as they are, but I don't know if that is the best decision for Jayson. For him, I feel I need to keep fighting for answers! I am going to take some time, talk to Jayson's heart, and carefully consider what is in his best interest. Maybe it's best for him to have a mom who is as present as possible opposed to one who is constantly trying to balance work, research, contacting doctors and caregiving all of the time. But if answers, a diagnosis and treatment are truly what he needs, I will find the strength and keep fighting. I just wish I didn't have to fight alone.

I took some time to reflect, and try and get back to a positive place.  It was challenging, but I was able to find a several highlights in our disheartening genetic appointment:

                                                                                                                           

Our geneticist may not have done what he said he would, nor has he really helped in finding a diagnosis, but he is really nice and supportive. He complimented us several times on our persistence in getting Jayson's seizures diagnosed and treated. He has always strongly felt J was having seizures. When I told him J got that diagnosis due to our thorough and supportive neurologist, he said, "No. YOU always knew. As his parents, you KNEW they were seizures. You didn't give up, and you waited for us to listen and learn from you." He told us we have a wonderful neurologist and comprehensive care doctor behind us 100%, working hard to get Jayson the best care possible. He recognized that we have done a lot on our own for Jayson as his parents, including getting the Whole Exome Sequencing done, and that we take care of our precious boy and his needs every hour of every day without rest or reprieve. He emphasized the incredible role I have as J's mother and caregiver and that I never rest, ever. 

He is the doctor who suspected Jayson's craniosynostosis last year and he carefully looks for things that may have been missed. Today he suspected scoliosis in Jayson, and after looking at the radiology report online it looks like Jayson has scoliosis and another spinal condition that suggests he has a neuromuscular disease. This is more telling information that may lead us in a direction towards answers. Not what this mama wants to hear, but I'm glad he is being thorough and finding things. 

It was evident this visit that he had read Jayson's history and everything that had taken place over the past year. Although I was frustrated he didn't pay attention when I previously informed him of another MN1 family in the western US, we told him today we really wanted to get in contact with the other family with a mutation on MN1. I tried on my own and could not be successful; I was told it could only happen through our geneticist, and he agreed to help with the contact if we started the process. 

He is going to work with our Comprehensive Care doc to get Jayson into the new undiagnosed clinic at Primary's. The primary purpose of attending this new clinic is primarily to get Whole Exome Sequencing, which we just did. So I asked if we can work towards Whole Genome Sequencing. He resisted a little and first saying the genetic world isn't ready to sequence the genome (not entirely true) and that isn't easily accessible (not true either), but I shared with him what I learned about at our genetic conference about Whole Genome Sequencing. He then nodded and mentioned the Utah Genome Project and said he will suggest Whole Genome Sequencing for the whole family as a goal for our undiagnosed clinic visits. 

I asked him about going to Boston, since a doctor there has started to take a special interest in Jayson who used to work in our hospital. He said to do the EMG test and if there is abnormalities, he suggests hopping on a plane to see her. He said there may be many more options, specifically clinical trials, for us in Boston. He is not a proactive doctor, but he is kind, he listens, and he is not too proud to say we might get more help elsewhere.

I may be frustrated, but it is clear to see that some good came out of this appointment as well. He really complimented and validated me and Mike as Jayson's parents and caregivers. Given what we've been through recently, we really needed that. He listened and agreed to some of our ideas and suggestions. He supported us in getting more help out of state if the tests support it. He is thorough and has found now a few conditions that Jayson has that have previously missed. I can't tell you how many doctors checked his head for craniosynostosis and missed it and now how many have checked his spine for scoliosis and abnormalities and missed it. I might be frustrated about his lack of dedication towards finding answers for J and this appointment did not go at all how I hoped. But a lot of good came from it, and for my sanity and happiness I am going to focus on that good and move forward. We can do hard things. And we will.

We Won the Lottery!!!!! The Genetic Results are In

We did it!!  
We got some answers.  Kind of.  Maybe.
And they came in such a way that let us know once again how mindful God is of our family.  We had the privilege to attend a national genetic conference put on by Global Genes called the Patient Advocacy Summit.  I could go on forever about the incredible experiences and things I learned at this conference, but I will have to write another post for that.  Their focus was about what to do once you get a diagnosis.  We were particularly interested in this because I was hopeful we would get a diagnosis sometime soon!!  They taught us about networking and finding other diagnosed families, creating foundations, finding and funding research teams, advocating for medicine trials with the FDA, and discovering treatments and cures for these terrible rare diseases.  It was incredible!!  And I just soaked it all in hoping I could some day put this information to good use.  Little did I know what was in store...

{Keep an eye on this link.  I think at some point they will be posting the amazing presentations.}

We were on our way home from California when I decided to call GeneDx.  I was told at the conference what an amazing company they are to work with (I already knew that!!) and that they will give you an update if you call about your Whole Exome Sequencing.  So I called, and I never in a million years expected to hear this, "Your timing is impeccable.  The test is done, the results are in and a report was just faxed to your doctor."  These were our faces in response:

We were ecstatic and nervous, but we focused on the excitement!  Results were in, and we didn't know what they would be or how our world could change.  At that moment, we could just be excited.

I left a message with our pediatrician's office and got a call back.  Our doc did not understand the results at all. He said we had to contact our geneticist.  Oh boy.  Any time I call the ridiculous phone tree I'm forced to leave several messages and get a call back weeks to months later or not at all.  Not this time!!!  They called me back hours later.  They told me the results were negative for mitochondrial disease YAY!!!!!!  and that we found a couple of mutations.  That's where Part 2 of our Journey for a Diagnosis begins!!!

To sum up our results, we basically hit the genetic jackpot.  And I've decided the whole process for searching for and receiving a diagnosis is fairly similar to attempting to win the lottery:

• Winning the lottery and getting genetic answers are extremely rare.  In fact, it's so rare most people don't think it is worth the time, effort or money to try.
• Gambling is a bad habit.  So is obsessing with research and finding answers.  This habit has consumed me for three years, and I don't see it ending any time soon.
• You think winning the lottery will take away your problems, make life easier, and make you happy, but often times it doesn't.  They often find out that even money can't buy their happiness.   I already can tell that answers through genetic testing just open new doors full of frustration, questions, confusion, heartache, and at times devastation.  Certain things got easier with some answers, but many things got a lot harder.  Money cannot buy happiness, and neither can genetic results.
• Even though the odds are against you, you can't help visualize yourself winning the lottery.  You see it, hope for it, visualize what car you'd buy, where you'd live.  You convince yourself you have a chance, that you could be that rare individual to hit the jackpot.  But you find yourself left in a world of disappointment and feel as if those dreams died with the losing lottery ticket.  The same goes for genetics.  You know the odds are against you, but you hope and pray you are the exception.  You visualize what it would be like to have answers, to be one of the ones who get a name to the disease attacking your child.  You stay positive and wonder where you might go for treatment, what medicines might be out there to save your child and preserve his life.  You know that is all coming your way with genetic results.  Yet time and time again, you are left with an empty lab sheet and more questions than answers.
• Winning the lottery changes everything; it changes you.  If you are fortunate enough to win, you are caught up in this whirlwind of change.  You see the world differently.  And although you wouldn't necessarily want to go back, there are times you wish you never would have purchased that lottery ticket and things could go back to the simple times they were.  This is also true for answers.  Having answers changes everything.  It changes you as a person.  There is a whirlwind of emotions and next steps and you remind yourself this is what you wanted, but there are times you wish you could go back to life before diagnosis day.

I guess you could say we won the genetic lottery.  But not necessarily in the way we had hoped.  We got results, and results may lead to answers, but at this point nothing is conclusive.  We still have quite the journey, it's just a new journey and we have an area of focus.  But these areas of focus are rare... uber rare...super duper unbelievably rare.  So rare, we won the genetic lottery!  We were blessed with an amazing warrior boy who is the very first human to have a genetic mutation on the MN1 gene.  Because he's the first, we know next to nothing about this gene or how a mutation on it might present.  The geneticists and scientists have their work cut out for them, but I imagine at the same time they are excited.  Jayson has one more mutation. It is on the LAS1L gene (that is the number 1 before L).  There are very very few people in the history of the world with this mutation.  According to our genetic report, 5 to be exact-- two pairs of brothers who were diagnosed with Wilson-Turner Syndrome because of their symptoms (phenyotype) AND an infant boy likely from Utah who only lived to be 3 months.  I will explain more about him later.  So, in summary, we have TWO mutations.  One never seen before in the history of mankind, and the other one seen FIVE times with two completely different diseases.  Before we got these results, I assumed J would be rare, and I even processed the idea that he might be 1 case out of 100 in the history of the world kind of rare.  But I never ever entertained the idea that he would be the first, or the sixth of anything.  See, we won the lottery!!!!!  Jay is like 1 in 108 billion!!!!  Those are some incredible odds :)

Let me tell you what these results mean.  I'm not going to talk much about MN1, because J is the first and we know nothing about it.  Let's talk about LAS1L.  For the smarty-pants scientists reading this (and other special needs mommies) here are the details: 

LAS1L

X-Linked disease with intellectual disability

Varient: p.C186R

cDNA: c.556 T>C

Hemizygous

Inherited from Mother

Classification: Variant of Unknown Significance

Interpretation:
The LAS1L gene encodes a protein that is part of a novel ribosome biogenesis complex which localizes to the nucleolus.  A de novo missense pathogenic variant was identifed in an infant with spinal muscular atrophy with respiratory distress (SMARD).  In addition,, a missense pathogenic variant was identified in two unrelated families with X-linked intellectual disability.  The affects males in both families had similar clinical features including mild to moderate intellectual disability, obesity, facial features, speech impairment, variable behavioral problems, gynecomastia, small undescended testes, hypogonadism, and tapering fingers.

If you actually made it through the report with all of the medical jargon, you're either really smart or a good friend. :)  Let's talk about this, starting with the two families with the X-linked intellectual disability.  It's referring to Wilson-Turner Syndrome.  J doesn't fit there really.  He doesn't have their facial features, no real behavioral problems, no enlarged male breasts, no obesity, no tapered fingers, no short stature, and his genetalia is normal.  He does have small feet, speech impairment and an intellectual disability which fits with this diagnosis, but that is it.  I'm fairly certain he doesn't have this condition.  But now let's look at the baby infant with SMARD.  Did you catch what SMARD stands for??  Spinal Muscular Atrophy with Respiratory Distress.  SMA.  We are talking about SMA.  If you don't know about SMA, google it now.  You will find it is the number one killer for babies and children.  You will find it is a nasty neuromuscular degenerative disease.  You will find it is every parent's worst nightmare.  Well, there is a type of SMA associated with Respiratory Distress and they have named it SMARD, Spinal Muscular Atrophy with Respiratory Distress.  There is a specific gene tied to its diagnosis.  However, this baby boy with a mutation on LAS1L, the same gene that J has a mutation on, was ALSO found to have SMARD, and he didn't carry the other gene associated with SMARD.  After lots of work, effort and research, it was determined that there is a SMARD 2 that is associated with the LAS1L gene.  The research was done here in Utah by a team of doctors I know.  Crazy, right?  Well this boy did not make it.  He passed away at just three months.  He is all the research they really have right now.  But it was enough research to make a significant finding in science.  There research article is referenced a lot in genetics.  Their one study was enough to establish SMARD 2, at least at this time.

Now many of you are probably thinking at this point, "Well good, Jayson doesn't have a severe respiratory condition or a trach so there is no way he has SMARD.  LAS1L can't possibly mean a SMARD diagnosis for Jayson."  But let me walk you through my thinking process as I recalled information from Jayson's medical record filed so carefully in my head.  Maybe you remember our Sleep Study from a previous blog post,  Too Hard, but Jayson was having troubles breathing during the sleep study.  The respiratory therapist told me that the only time they had seen those breathing issues were with kids with Spinal Muscular Atrophy.

"Something about your son's lungs or brain is not triggering the back up rate.  It's like his respirations are too shallow to trigger the machine.  Our machines and very good and very sensitive.  They can pick up newborn preemies respirations, but not your son's when he's in level 3 or 4 REM sleep.  We could pick them up when he is awake or in a light sleep, but in the deep sleep the machine doesn't recognized he is attempting to breathe."  I asked her if that meant that the Bipap isn't working and she confirmed the backup rate is not kicking in so the machine is not breathing for him when he needs it.  I asked her what the next level of support is?  She was quiet.  I asked, "Trach and vent?" and she said yes, our doctor will likely talk to us about it.  She sat me down and reviewed the lines on the screen with me, how they disappear when he is in Level 3 REM sleep, and then he starts to fight for air and that's when I show up in the video trying to help him, then he breathes again and all is well again.  Once he settles in deep sleep again, the cycle continues.  She turned to me and said something that struck me, "The thing is, we only have seen this happen with Spinal Muscular Atrophy kids."  I didn't know what to think or how to respond.  She said that it would be easy for someone reading the recording from the night to assume Jayson was disconnected or there was a technical error, so they were talking directly with the reader that morning, having him talk to me about what I'm seeing at home, write a special note on the study report and ensure he calls our pulmonologist directly to let her know it is not a machine error.  It is Jayson.

So, you can imagine how it took my breath away to read the gene Jayson has a genetic mutation on has a research based connection to SMARD.  I also started to reflect on J's respiratory history...  Chronic respiratory distress as an infant, needing high flow O2 at home 24/7 then nasal cannula O2 until about 2 years of age.  Desats all night long every night even on O2 and support.  Every night numerous times he had apnea events long enough we had to stimulate him to breathe.  Then he started CPAP with O2 during sleep right before he turned 2 (I think), and now he is needing Bipap with a higher flow of O2 because his respiratory problems are progressing.  He had 4 ALTE's as a baby (Apparent Life Threatening Events) and needed us to begin the steps to CPR on three occasions.  Currently, his respiratory rate is frequently dropping below 5 and going as low as 0 on a typical night.  He doesn't recover from respiratory illness in the typical fashion and requires more support.  He does not have a trach, thank goodness, but it's been talked about numerous times.  No, I have never thought my child could fit under the SMA or SMARD diagnosis, but I'm starting to wonder given this summary of respiratory concerns.  And what stands out most about it is nobody knows why!!!!  The neurosurgeon says it's not brain.  The neurologist says it's not seizures during the night.  The ENT says it's not his airway.  The pulmonologist says it's not his lungs.  We have NO explanation.  His sleep study results are awful every time, and we have no clue why.  This would explain why.

SMARD kids often struggle to breathe due to diaphragmatic paralysis.  They like to sleep upright or folded over to remedy the diaphragm issue.  They struggle breathing at night during deep sleep laying down in the supine position.  That's when Jayson' struggles. Therefore, many of these kids choose to sleep upright in a sitting position to help their diaphragm.   If any of you have followed me on Facebook, you've probably seen dozens upon dozens of these types of photos:

Jayson prefers to sleep upright or folded over.  He gets himself in this position every single night.  I've often wondered if that is what makes it easier for him to breathe.  Maybe it's related to his diaphragm??  Lastly, I remembered that in his last chest x-ray in January there was a concern brought up about his diaphragm.  We asked our doctors about it at the time, and they didn't think it was an issue but more like a mistake in the x-ray.  Of course, I am now worried about it.  I went and looked at the x-ray report and it stated his diaphragm was elevated suggesting eventration.  When I look up eventration it tells me it is often confused with diaphragmatic paralysis on an x-ray and more testing is needed to see the difference.  In summary, the x-ray is stating the image of J's diaphragm could suggest diaphragmatic paralysis, which is the condition kids with SMARD have.

It's not looking good, my friends.  A genetic condition, breathing issues similar to that of SMARD kids found during his sleep study, and an x-ray suggesting the diaphragm condition kids with SMARD have.  I hope this explains to you all why I'm freaking out.  Maybe it doesn't. No?  Okay.   Let me explain this a little more bluntly.

SMARD is terminal.

There is no cure.

All kids end up trached.

Then they die from respiratory distress.

They don't get better.

They die.

And there are three pieces of medical evidence right now suggesting this might be my son's diagnosis, the most significant of these being the genetic findings.

So yes, I'm a mess.  But let me tell you what's keeping me going.

The other kid with the LAS1L mutation and SMARD didn't have any craniofacial abnormalities.  SMARD could explain J's respiratory issues, but what about his craniofacial features, his chiari, his craniosynostosis, his C1 hypoplasia???  Maybe LAS1L can, but right now we do not have any evidence linking LAS1L with these things.  This gene mutation may not be the one causing his issues.  We may need to look into Whole Genome Sequencing to see if there is another gene that can explain everything going on with Jayson (which I learned at the conference that Genome Sequencing is happening in particular states!!!).  Right now, nothing exactly fits.  But at the same time, that much in common with SMARD scares the daylights out of me.  Furthermore, this mutation is legit.  Legit is not scientist talk.  It's Tristin talk.  Legit meaning it is X-Linked and found in my DNA as a carrier, and in J's DNA.  That likely means something.  It's not random.  And that scares me.  And makes me very upset.  My baby could be dying, and my DNA would be to blame.  Swish that around in your mouth a bit.  It doesn't taste good, does it? :(

So what do we do now?

I read the three research papers written on LAS1L and the one linking LAS1L and SMARD was written by a team of doctors here.  I wrote the neurologist an email who was one of the main authors, letting her know another child with this mutation has been discovered, and asking for her help.  She informed me she had moved from SLC to Boston and is working with Harvard and Boston Children's now.  However, she still wants to help us!!!  And maybe she can help even more now because the technology and experience of doctors in Boston is so much better!  She plans to reanalyze Jayson's DNA samples from GeneDx and dive into Jayson's medical history and go from there.  Our current geneticist at Primary's is seeming like he may be proactive as well.  They are doing a lot of research right now and preparing for our appointment we will have on November 3.  Hopefully by then we can come up with a good plan.  He mentioned the need to insert these genetic mutation into animals and study what happens.  This has been done with the LAS1L in zebrafish, but not with the new gene mutation MN1.  I am excited when I think about all of this.  We are progressing science.  By fighting for answers for Jayson, we are contributing to the scientific world and helping other future kids who may be diagnosed.  We are a part of something important, and these amazing doctors and scientists are going to be working hard trying to find answers for my boy!  

This week has been emotional and draining.  Excitement, fear, sadness, devastation, confusion, regret, guilt, hope, anticipation.... so many emotions, and they change quickly.  I can be talking with excitement in my voice about what is happening one moment, and be crying the ugly cry the next.  I don't think I like this stage, but I tell myself at least we're moving.  We've been so stagnant for 3 years, not moving to find more answers due to our inability to have access to the Whole Exome Sequencing test.  But now we are moving in some type of direction.  GeneDx made this possible.  They restored hope in this journey and got us to this point.  They have been the key player at this point in getting answers for my son and I am eternally grateful!

They have been so easy to work with and helpful alllll along with way.  Good communication.  No surprises.  No drama.  No hidden costs.  No private agenda.  No problems.  And the report with results was so user friendly and informative.  I do not have a single critique.  If you are reading this and have been wondering if you should do Whole Exome Sequencing----------> STOP---------------->  Stop wondering, and do it.  A phone call is all it takes.  And the rest is history.  We were lucky and we were prioritized, but we went from hopelessness to potential answers in 16 weeks.  Do it.  You won't regret it!

So that's where we are at.  Our geneticist said this process will take time.  It is so hard having patience when we could be on the brink of a diagnosis, but hey, I've waited this long.  My personal focus right now is to soak up every little minute with my little man.  There has always been the possibility that his life would be short here on earth, but this new news makes this possibility seem a little more real.  I also plan to bother  work with the geneticist here and the neurologist in Boston to keep them working on finding answers.  I also plan to start building my new relationships I made at the conference with some of the most inspirational people I have ever met.  I know they will play an integral part in this journey.  And I plan to strengthen my spirituality.  This journey is hard, and quite honestly, it just keeps getting harder.  I can't do this alone.  I need all of you, and I need my Heavenly Father.  If I strengthen my relationship with Him, I know it will strengthen me.  And Jayson needs a strong mom.  He needs me at my best, and that's exactly what I intend to be.

Thank you for your prayers and support.  Our prayer for a diagnosis is in process of being answered... in God's time.

FEAR

FEAR.

an unpleasant emotion caused by the belief that someone or something is dangerous, likely to cause pain, or a threat.

Yes, I'm afraid.  There is something incredibly dangerous and threatening in our world, and we cannot escape it.  It's a part of us.  And the sad truth is--- if and when it leaves, it will be devastating; there will be no reason for living.  

I'm trying to adjust to living with fear and not letting it control me, but right now it's nearly impossible.  I feel this dangerous beast is attacking us at all angles, reminding us just how present and in control it is.  It has a strong hold of multiple body systems.  It holds J's words captive and steals his comfort and joy.  It is a liar, a cheat and a thief.  It's a destroyer.

I want to give you an idea of where my head is at, in this moment.  It's not pretty.  I'm not in a good place, and if you lived with this fear and this destroyer, you would not be either.  But the truth is, there are very few who understand this place where I'm at.  There's few who live it and even fewer who would admit it.  I'm alone, and that adds to the darkness.

If you've read our previous post Too Much you're aware that we have received some troubling, surprising and somewhat devastating news in the past couple of weeks.  It hasn't stopped there.  We've had another 2 ER visits, several doctors appointments and some new developments.  The fear just compounds and multiplies.

J has had two different interesting urinary concerns pop up, which have resulted in ER visits.  They are a little personal, so I'll just leave it at that.  But I'm growing more and more concerned about his urinary tract that we haven't yet explored.

More concerning has become the fact that for nearly NINE DAYS Jayson has struggled to walk without identifiable cause.  He falls several times an hour, opposed to his usual several times a week.  He takes 3-5 steps before sitting, falling or grabbing hold of something when he used to walk 3-5 minutes without support.  He cannot maintain a stand without losing balance.  He reaches for me continually, not wanting or incapable of walking on his own.  He used to love the challenge of stairs, and we would hold one of his hands or fingers and help him navigate them both up and down.  Now, he attempts the first step and collapses.  It's not an issue of motivation or desire; we've tried exploring that.  It's a matter of ability, a matter of regression, and that word cuts me to the core.  

Jayson has not been one to regress, except during illness, seizures, and surgery.  His only area of regression has been in communication and oral skills such as eating and speech, never gross or fine motor.  For the first time ever, Jayson is regressing.  It wasn't a bad day, not even a bad week.  It's been a bad 9 days, and I'm scared that he may not bounce back.  Why is this frightening?  Because my son is UNDIAGNOSED.  Until now, we have never even considered the possibility of him having a regressive genetic disorder.  He never fit the symptomology.  Now he does.  Overnight my fighter has all but lost the skill he worked 3 years to gain, and I have ZERO explanation why.  He is completely healthy; no illness.  His seizures are well controlled by the diet.  The MRI says his chiari is fine.  There is no intracranial pressure.  All there is, is Jayson's genes.  Jayson is also regressing in muscle tone.  He has become very floppy and hypotonic again, and is struggling to maintain a sit in his high chair and on the floor.  He is difficult to get into his car seat and wheelchair due to his low tone.  So he is regressing essentially in muscle tone, which is bad.  Regression is very bad.  And in case you were not aware of the unspoken word tied so tragically to the word regression--- death.  If a child has a regressive genetic disorder, it nearly always ends in death.  So maybe my fear is a little more justified.  Maybe, it's more easily understood.  Maybe you're feeling it now too.  Maybe, I'm no longer alone.

The past 2 days Jayson has been very sleepy.  He has taken 3 naps, and slept in for a long time in the morning.  He frequently signs for bed and lays down throughout the day.  His eyes are heavy and he is exhausted all day long, for two full days.

The past two nights Jayson has struggled to keep his oxygen up as well... on BIPAP... and on oxygen.  He has woken us up gasping for air as his alarm starts beeping and we find his O2 saturation levels in the 80's, and they aren't coming up.  We have awaken to the startling sounds of his pulse oximeter alarms notifying us he is desaturating in O2 only to find him apenic, holding his breath, not breathing until we stimulate him to remind him to breathe... on BIPAP... on oxygen.  I don't think I need to tell you that this isn't good.

It seems the list of issues is growing rapidly, and my ability to sleep comfortably is decreasing.  Only this time, I don't know what to research.  I don't know who to contact.  I don't know what to do about it, because I have no signs.  What do you fix when the thing that needs fixing is likely his genes???  I'm hoping I'm wrong.  I'm hoping my fear is being wasted on something trivial.  I'm hoping my child wakes up incredibly ill in the morning and I have an explanation for all of it.  I'm praying for that very thing, actually.  Sick and strange, I know.  But right now a terrible illness that effects his respiratory system and muscle strength sounds better than a death sentence, so yes, I'm hoping for an illness.

We've seen his pediatrician, who has no ideas or explanation.  He believes this is not concerning as long as Jayson isn't vomiting or lethargic.  Well, he's suddenly become lethargic so we will see if this will catch his attention now.  We were seen in the ER, but his other issue was more pressing so nothing was explored or discussed.  We plan to reach out to Dr. M, our Comprehensive Care doctor this week.  Our appointment with her isn't until November, but I'm hoping we can move it up or get on her cancellation list.  Other than that, the only other thing I can hope for is that we get our Whole Exome Sequencing results back soon.  They may not contain answers I want to hear, but I can't live like this.  I can't keep wondering every day if my baby is dying.  I need to know one way or the other.  I need to know if this will be just a minor setback or if this is the sign of harder times to come.  I can't keep living in fear.  I need answers.

I hope this explains a little more about how I'm feeling and how I'm coping.  I'm not.  I'm struggling big time.  And I have to put on a happy face, go to work, do my laundry, wash my dishes, send my child to school, and act like it's all okay.  The world keeps turning.  But right now my world feels like we have pushed the pause button in the middle of our story, and we are all waiting to see how this will play out.  I'm hoping, wishing and praying with all of my heart that this story has a happy ending. 

Too Much

It's too much sometimes.
It's too much for one tiny human to go through.
It's too much for one tired mommy to handle and comprehend.
It's too much for a family to endure.
It's too much to try and process.
It's too much all at once.
It's all seriously just way too much right now.

The Ketogenic Diet

I have started a post I haven't finished about the Ketogenic Diet.  I'll provide more details in that post later, but in quick summary:  The diet is WORKING!  We've gone from 20-100 seizures a day to 3-10 seizures a day.  We are loving our happy nearly seizure free boy!  The bad news is Jayson is having a tough time adjusting to the diet.  They said he is part of the small percentage who goes into a concerning level of ketoacidosis.  His body is supposed to be into ketosis, and it's common to even occasionally be acidotic.  But his body is living in major acidosis.  This causes symptoms like lethargy, sleepiness, red flushed cheeks, clammy forehead and hands, and even vomiting.  We've been checking his labs hoping he is starting to adjust, but that hasn't been the case yet.  The docs aren't as worried if he's not symptomatic.  When we first started he was pretty symptomatic, but once we gave him some apple juice it leveled out his PH, glucose and lowered his ketones a bit.  He was symptom free for a while.  Now it occasionally pops up and usually disappears quickly, but last weekend things got more serious.  After a rough night, we suspected an ear infection and took him to the doctor.  It was a double ear infection.  We got him antibiotics and took him home.  He was super tired and limp, definitely not his usual self.  I thought it was the ear infection.  He then spontaneously vomited.  He never/rarely does that.  I grew concerned.  He seized pretty badly afterwards and struggled to recover, then fell right to sleep.  His heart rate was high, his cheeks were flushed, and his head and hands clammy.  I thought it might be from being nauseous.  Then I got out my ketogenic diet book and opened it to ketoacidosis and it listed off all of J's symptoms.  I gave him some apple juice and he didn't recover.  He slept for hours and would not wake.  We changes his clothes, picked him up, loaded him in the car, buckled him up, all without him making a sound or movement while staying asleep.  This was concerning.  We headed to the ER.  The treatment for ketoacidosis is some sugars through the apple juice and some iv fluids.  We hooked him up to fluids and got his labs drawn.  His bicarb was at 14, after apple juice and fluids.  That's where it has been that has had everyone concerned.  But given that was the number after intervention, I'm assuming it dropped much lower that afternoon which caused his body to be in crisis.  With the extra sugars and fluids, he perked up, his rosy cheeks started to disappear, the clamminess went away and we were ready to go home.  We changed his diet from a 3:1 to 2.75:1 ratio to see if it helps keep him out of ketoacidosis.  He seems to be doing a little better, so I'm hoping it's working.  We are also closely monitoring his liver enzymes because they have been high since starting the diet, and his kidneys since he is passing kidney deposits, softer than stones, that are made of fats and proteins.  Apparently no one has ever seen that before.  Surprise surprise.

The Sleep Study

During Jayson's hospital stay for the ketogenic diet, we were not only concerned about his labs and toleration of diet.  We quickly become concerned about his respiratory system.  As in previous hospital stays over the last year, we noticed that his respiratory rate was dropping pretty low!  At home J sleeps on a pulse oximeter, which measures his O2 and heart rate only, not respiratory rate.  I had no idea his was so low.  He was hanging out just below 10 respirations per minute the first night, with drops down to 4 and 5.   The second night he was spending the entire night around 4-5 and dropped as low and ZERO respirations per minute.  We assessed him for seizure activity during that time, and we did not see that he was having a seizure.  It was scary and traumatizing.  His hospital team didn't know what to do, so I called our pulmonologist who said to get him on BiPap immediately.  These apneas were happening while he was on Cpap and 2 1/2 liters of O2.  With a little hassle, we got him on Bipap and got Bipap set up at home once he was discharged.  Bipap breathes not only in with him, but out as well.  It helps regulate both inhale and exhale, and it has a backup rate that will kick in and breathe for him if his breaths get under 15 per minute.  It really seemed to help him.  But there were a couple of times in the nights at home that I would wake to him gasping and fighting for air, like he did before.  I attributed it to him trying to fight the backup rate because he's not used to it.

We followed through with our scheduled sleep study and changed the order to study him on Bipap instead of Cpap, since that was the recent change.  Everything was going smoothly until I had a tech come in with a flash light around 2 am making noises and shining the light around.  I kindly informed him they did this last time and it woke him up and invalidated the study.  I told him that once my child opens his eyes, he will be awake for the next 3-4 hours without exception.  He continued to mess with machines, check screens and then he asked me to turn off the Bipap machine, but leave the mask on my son's face.  Um... that makes you feel like you're suffocating.  I did what he asked and watched him hook up the machine to his own face and watch what it did on the screen.  I told him my son was struggling to breathe, he took his time.  I finally took the mask off of J's face because he was fighting to breathe.  The guy shined the light right in his eyes and said he was ready to hook him back up.  I said he was starting to wake and we needed to give him a minute.  It was too late... the talking and flashlight in J's eyes and the loud air sounds from the Bipap machine woke Jayson.  I got him calm and relaxed and stormed out of his room to find the respiratory therapist.  I demanded to know what in the hell they were doing.  I am paying for every penny of this sleep study because my insurance won't approve it and they just went and woke up my son.  She explained that the Bipap was not working for Jayson and they were trying to figure out if it was a machine error or what was going on.  The machine worked on the tech, but not on Jayson.  She suggested we try another mask in case ours had a large leak or something.  She explained that it was blowing air, but the backup rate was not being triggered when his respiratory rate got too low.  She spent some time hunting down a mask.  We tried on a couple while J was awake and they seemed to work on the screen again, so she said it must have been my mask.  Our mask was new so I was confused, and it troubled me to think that I had been putting a faulty mask on my child and had no idea, making it hard for him to breathe.  Maybe he didn't even NEED Bipap and it was the mask making his respirations low?  I was puzzled.  After three eventful hours of the crazy child being awake, we BOTH got some sleep around 4 or 4:30am.  I slept in the bed next to him so I could easily assist him with the Bipap mask or his breath holding if he needed it.  The respiratory therapist woke us at 6 to remove the equipment.  I assumed the rest of the study went well.  I asked.  She answered, "Actually, it wasn't the equipment or the mask.  It was your son.  We spent a lot of time on the phone with our supervisor last night.  We checked everything.  Something about your son's lungs or brain is not triggering the back up rate.  It's like his respirations are too shallow to trigger the machine.  Our machines and very good and very sensitive.  They can pick up newborn preemies respirations, but not your son's when he's in level 3 or 4 REM sleep.  We could pick them up when he is awake or in a light sleep, but in the deep sleep the machine doesn't recognized he is attempting to breathe."  I asked her if that meant that the Bipap isn't working and she confirmed the backup rate is not kicking in so the machine is not breathing for him when he needs it.  I asked her what the next level of support is?  She was quiet.  I asked, "Trach and vent?" and she said yes, our doctor will likely talk to us about it.  She sat me down and reviewed the lines on the screen with me, how they disappear when he is in Level 3 REM sleep, and then he starts to fight for air and that's when I show up in the video trying to help him, then he breathes again and all is well again.  Once he settles in deep sleep again, the cycle continues.  She turned to me and said something that struck me, "The thing is, we only have seen this happen with Spinal Muscular Atrophy kids."  I didn't know what to think or how to respond.  She said that it would be easy for someone reading the recording from the night to assume Jayson was disconnected or there was a technical error, so they were talking directly with the reader that morning, having him talk to me about what I'm seeing at home, write a special note on the study report and ensure he calls our pulmonologist directly to let her know it is not a machine error.  It is Jayson.

I went home from that sleep study a MESS.  I couldn't believe what I was hearing.  My son was stopping breathing, all throughout the night, ON BIPAP.  And the next level of support is a trach and a vent.  I couldn't handle the thought.  I lost it.

I got a call from our pulmonologist that afternoon and I expected bad news.  Instead she said the study looked GREAT and that Bipap is just the support he needs.  Although I was elated to hear this, this was just the news I was hoping for, it couldn't be true.  I told her about what happened in the study, what the respiratory therapist said, what the techs and nurses said and did, and how I spoke with the reader, the supervisor was involved, how they were supposed to make a special note on the study report and make a personal phone call.  NONE OF THAT HAPPENED.  No phone call.  No note on the study.  No mention of this concern at all in the report.  Our doctor called the sleep lab and nobody knew what she was talking about, because she works during the day and it was the overnight lab techs that knew about what was happening.  The pulmonologist called us the next day to tell us she couldn't find anybody who knew what I was talking about.  At that point I had reviewed pictures and documentation I had taken throughout the night and while the RT was talking to me about this.  I told the pulmonologist that this was found on the Cflow line of the study.  She said, "Oh yes, he has very low flow it seems.  But I think that was a technical or machine error.  He couldn't possibly be that low and still oxygenate."  Sigh.  It wasn't a technical or machine error.  It was Jayson, and yes, apparently he can possibly be that low and still meet bare minimum oxygen requirements to be considered stable.  Another battle.  Another exception.  Another way Jayson is unique, rare, not understood.  And I am still a mess trying to digest all of this, without the help of a doctor or professional.  I want so very badly to believe my pulmonologist, but I just can't think that what the sleep team saw and said that night is not significant, and not a piece of the puzzle.

The MRI

We called the neurosurgeon's office a week ago knowing we would be getting the sleep study results.  We are thinking it is a possibility that J's sleep apnea and breathing and seizures and urine retention and sleep issues and everything could be related to a reoccurrence of Chiari.  I wanted an appointment with neurosurgery after the sleep study to see about getting another MRI.  When I called and talked to the nurse about what was going on and why I needed an appointment she said she faxed an order to radiology while I was on the phone with her.  It was urgent we get the MRI right away and an appointment afterwards to look at the results.  We called radiology and got in for an MRI really quickly.  This was an MRI of his c-spine which looks at lower brain and upper spine.  We always have gotten a regular brain MRI too, so I tried calling, emailing and calling neurology some more but the order never got in.  We only got the c-spine MRI.  Jayson was so very traumatized through the whole thing.  The past two times he was in pre-surgery, he got his skull and head cut open and had a very hard recovery.  My heart hurt watching his wide fear-filled eyes and that he insisted on being held 95% of the time.  All went well with the MRI and we went home that afternoon.

I knew I could read the results on the computer and checked and they weren't quite ready.  I checked back and they were up.  I saw they were read by a neuroradiologist.  Those guys know their stuff.  And so I read the news...

"Redemonstrated postoperative changes from suboccipital
craniotomy, and posterior C1 arch resection. There is no
evidence for inferior tonsillar herniation, or recurrence of the
Chiari one malformation defect. There is dilatation of the
suboccipital craniotomy pouch, suggesting a pseudomeningocele,
without evidence for cerebellar involvement in the herniation
sac. This projects posteriorly, best seen on sagittal image 11
of series 5, and appears new from prior. Mild encephalomalacia
at the residual inferior cerebellar hemispheres, possibly
related to prior autoamputation and infarction. There is mild
sagging of the cerebellar hemispheres.

Alignment of the craniovertebral junction and subaxial cervical
spine is otherwise normal. The cervical vertebra show normal
height and marrow signal intensity. Intervertebral disc spaces
are normal. The cervical spinal cord shows normal signal and
volume."

Let me walk you through my process of internalizing this information.

First--- It's not chiari!!!!  YAY!!!

Second--- Wait, this is our first MRI that showed some concerning things other than chiari.

Third--- I don't know what any of these words mean.  Except infarction.   I know that permanent damage.  That's really bad.  Let me look some of this up.

Fourth--- Pseudomenogicele:  "an abnormal collection of Cerebrospinal fluid; Pseudomeningocele is an extradural cerebrospinal fluid collection arising from a dural defect, that may be congenital, traumatic, or more commonly as a result of postoperative complication. Majority of the postoperative pseudomeningoceles occurring after lumbar spine surgeries are small and resolve spontaneously."

Fifth--- Hmmm... Jayson has not had the dura of his brain opened surgically since January of 2013.  This pseudomeningocele was not there in his March 2014 MRI.  This is new.  Either the dura got accidentally cut open during his cranial surgery or he incurred a brain injury from one of his falls.  I also read that in extreme circumstances of very high intracranial pressure, the dura could split open.  Craniosynostosis perhaps??  Since it isn't due to a recent surgery, I read it won't resolve on its own and likely requires surgical intervention and a patch of the dura to be placed.  Brain surgery.  Again.

Sixth--- Encephalomalacia:  "softening of the brain tissue or loss of brain function due to hemorrhage or inflammation, a late manifestation of injury.  It is regarded as one of the most serious type of brain damage that can happen to any individual regardless of age and gender.  Serves as a focus for seizures."  I read it is often due to a brain trauma or traumatic brain injury, but can also be the result of extreme intracranial pressure, like what might occur with craniosynostosis. 

Seventh--- Autoamputation:  "spontaneous detachment (amputation) of a part from the body.  It is usually due to destruction of the blood vessels.  Infarction:  The formation of an infarct, an area of tissue death, due to a local lack of oxygen." That's not good.

Eighth--- Shit.

Ninth--- This is bad.  Really bad.

Tenth---  Sagging of Cerebellar hemispheres- "also known as cerebellar slumping, serious complication from decompression surgery where the cerebellum sags down and can reherniate." This happens post chiari decompression surgery and is often a sign that too much of the skull bone was removed during the decompression.  It can be treated with the placing of mesh or a titanium plate to support the sagging cerebellar hemispheres.  Another possible brain surgery.

Then I lost it.  Completely lost it.  That is A LOT to take in.  A pocket filled with CSF that likely needs to be drained.  Permanent brain damage.  No, the most severe type of brain damage.  Brain death that amputated itself because it was cut off from blood flow.  Possibly caused by a hemorrhage or a brain injury.  And sagging cerebellar hemispheres that could potentially reherniate.  None of this is good.

The hardest part for me was honestly the encephalomalacia.  I know the damage is done, and Jayson is still Jayson, but I don't know how it happened???  Was it one of those bad falls when he hit the back of his head that isn't protected by skull bone??  Was it due to the high intracranial pressure?  Was it due to a condition like spontaneous intracranial hypotension that we didn't know he had? Or my worst fear... is it due to his undiagnosed genetic condition???  Is it happening in other parts of his brain?  Is his brain atrophying?  Is his genetic condition progressive?  Am I going to lose my baby?

These were all questions floating around in my brain for hours and I really really struggled with the idea that my baby had an abnormal MRI, beyond the chiari.  There is something going on.  The combination of the pseudomeningocele and encephalomalacia could explain his symptoms.  The sad thing is that if the encephalomalacia is causing the seizures, that isn't going to change.  It's damaged brain.  That can't ever be repaired.  Ever.

I broke down yesterday like I haven't in a very very long time.  I yelled at God and He listened.  I knew He was there.  He knew my heart was breaking.  Today I picked up the pieces and found my strength.  We were meeting with our neurosurgeon.  But honestly, I wasn't stressed or nervous at all because I have no intention of working with our neurosurgeon.  He missed the intracranial pressure.  He missed the signs of craniosynostosis.  He cut open my kid's skull and didn't notice the skull sutures were fused.  He measured my child's head and noted it in the 1% or below percentile and did NOTHING.  I am done with him.  Yet, I wanted to know what he had to say.  Mike and I plan to consult with 2-3 different Chiari experts in the country.  I thought it would be beneficial to know what our neurosurgeon has to say if I end up looking at several different opinions and treatment options.  It might help to have his opinion to weigh in on the right decision to make.  I should have known better.

Dr. House, as I prefer to call him due to his handsome looks and poor bedside manner, gave us nothing.  Literally NOTHING.  I had low expectations, but he even shocked me today.  Here is how the conversation went.  And no, I'm not making this up.  I recorded it on my ipad.  This is a recap summary, not word for word:

I tell Dr. House about the symptoms J has been having.
Dr. House:  The Chiari looks great!
Me:  Yes, I'm very happy to see that!  (I really really was happy to see those great looking images)
Dr. House:  So there's no compression so Jayson is doing good.
Me:  But he's not doing good.  And what about the results of the MRI.  The findings?  We are very worried about the MRI results.
Dr. House:  What findings?  
Me:  On the report.
Dr. House pulls up report.  He had not yet looked at it.
Me:  I'm worried about the pseudomeningocele.
Dr. House:  There is no pseudomeningocele.
Me:  There.  I see it on the image. 
Dr. House:  Oh, that's just a little collection of spinal fluid.
Me:  Isn't that what a pseudomeningocele is?  And it's mentioned specifically in the report, so wouldn't it be there?
Dr. House:  It's small and it's always been there.
Me:  If it's always been there, why wasn't it on our last MRI or mentioned in our last MRI report that was post decompression?
Dr. House:  It's not problematic.
Me:  Can't it cause symptoms like headache, head rubbing, pain and maybe even seizures?
Dr. House:  No, they are asymptomatic.
Me:  Oh, that's not what I understood.  So you don't think it's causing any of Jayson's issues?
Dr. House:  No, I don't think that it exists.

Me:  So can you show me on the MRI where there is evidence of encepahlomalacia?  Is it that dark spot there?
Dr. House:  No, there is no encepahlomalacia.
Me:  Uhhh, really?  It's in the report.
Dr. House:  Where?
Me:  There.  It says where in the brain you can specifically find it.
Dr. House:  Oh, I don't think the MRI reader knows how to read post decompression MRI's.
Me:  Really, why?  
Dr. House:  Sometimes a decompressed brain can be mistaken for encephalomalacia.
Me:  It was read by a neuroradiologist. Don't they know about chiari decompressions?
Dr. House:  They should.  It's just that we removed some of the cerebellar tonsils so they are missing.
Me:  But doesn't the radiologist compare the last MRI report with this one when writing the report?  This was mentioned to be new.  The last MRI was done post decompression too, so if he's comparing the two and saying this is new, wouldn't this be concerning?
Dr. House:  No, it's very mild.
Me:  So does it exist or does it not exist on his MRI?
Dr. House:  It's very mild.  I don't think it's a problem.  You shouldn't worry about it.

Me:  So are the slumping cerebellar hemispheres a problem?
Dr. House:  No, they are supposed to do that.  He's been decompressed.
Me:  So you don't think that could be problematic in the future or that too much bone was removed during initial surgery?
Dr. House:  No, it looks just like it should.

Me:  So you're telling me you see nothing wrong with this MRI?
Dr. House:  No, it looks good to me.  I don't see a pseudomeningocele.  I don't agree with that.  And I think the encephalmomalacia doens't exist.  His chiari looks great.  No compression.
Me:  So you're telling me that there is nothing in this MRI that could explain any of my son's symptoms?
Dr. House:  No.  I really don't know.  Have you seen ENT?

Dr. House:  I'm sorry I can't help you.  His brain is fine.  His brain is not the problem.  You should see genetics.
Me:  We do, and they aren't helping us either.  We are not getting support from any of the departments that really could explain our son's problems.  And all of our specialists tell us his issues are brain related and to see you.  It seems nobody knows.
Dr. House:  Yeah, that's hard.  But his brain looks good.  We will see you in a year or two if he continues to do so well.
Me:  Wow. He's not doing well.
Dr. House:  He looks well.  A child with brain issues and high intracranial pressure does not act like this and engage like this.
Me:  I know.  It's funny you say that because Mike and I just mentioned that his is the best day Jayson has had in a long time.  He's active, hyper, happy and engaged.  That's why I asked you about spontaneous intracranial hypotension because his good and bad days come and go.
Me:  Since you and so many of his doctors seem to not know what is going on, is there any neurosurgeon in the United States that you recommend we see who might know?  I understand Jayson is very complex and we are willing to go anywhere to try and get answers.  It really seems his issues are brain related and I don't want to miss anything else?
Dr. House:  What you really need is a neurosurgeon and geneticist that can team.  Like we do here.  I work closely with genetics.  You should see your geneticist and order testing.
Me:  I told you.  We are waiting for Whole Exome Sequencing.
Dr. House:  Then you are already working with a great geneticist.
Me:  Actually, we had to order that ourselves privately through a lab.  Genetics did nothing.
Dr. House:  You should focus on the treatment.  You are getting his apnea addressed by using the Bipap and his seizures are controlled by the diet.  He is doing well.
Me: Ha. As I mentioned to you, we were told not even Bipap is supporting his breathing, and he is not adapting to the diet well.  Although it's treating his seizures, he may not be able to stay on it because it is metabolically causing problems.  And we've exhausted our medication treatments.
Dr. House:  Yeah, it's his genetics.  He's just going to have problems.  They aren't related to his brain.  Sorry I can't help.  Good luck.  See you in a year or two.

So that was it.  Almost painful, right?  No answers.  Zip.  And if you read closely you may have read the lies.  The "It doesn't exist", then the "Oh, it's mild.  Don't worry about it.", then back to "It doesn't exist".  I'm not sure if he's clueless or hiding something.  I already know he was negligent in Jayson's care due to the major lack in discovery of J's craniosynostosis; perhaps there are mistakes from the previous chiari or cranio surgery that are reflected in the MRI that are being attempted to be blown off or covered up?  It's sad I can't trust my son's doctors and surgeons, isn't it?

So where do we go from here?  I already spoke to the radiology department and asked for a second read of the MRI report that Dr. House criticized.  Come to find out, the best most experienced Neuroradiologist read it.  I was told to believe the radiologist over the doctor.  Nevertheless, another radiologist will be looking at it tomorrow and I will be getting a call.  We plan to do a Skype consult with some of the best neurosurgeons in the country, particularly those who specialize in Chiari.  We will see how they interpret the MRI, report, results and what they suggest for treatment.  I plan to call the sleep lab and see if I can talk with the respiratory therapist who was working the night Jayson was there.  She is very knowledgeable and experienced, so I think her observations really need to be considered and I need to find out why they were never recorded in the official sleep study report.  We are going to meet with ENT next week and plan to have Jayson's tonsils out.  They were mildly inflamed two years ago when Jayson had his adenoids out.  They haven't been bothering him, but they are an easy scapegoat to blame for apnea.  We need to eliminate that possible excuse.  Or better, maybe it really will help him.  In his past, a lot of his central apnea events were triggered by obstructive apnea.  Then I'm thinking we may once again try and schedule a consult together with several of our main player doctors and see if they can stop pointing fingers and passing J off to other departments and put their heads together to try and figure out what is going on.  We are hoping and praying that in the meantime we get results from Jayson's whole exome sequencing.  That would make things a WHOLE lot easier.  Maybe.  Maybe not.  It's been about 2 1/2 months since we sent our samples in and it can take up to 6 months.  We're getting there.

Thank you for all of your support, love, thoughts, encouragement and prayers.  This has been a very difficult time for our family, and I don't think it's near over.  We will keep you informed.  Thanks for being a part of our support system and Little J's Journey.

Why Hospital Stays are Hard

If you are reading this, I love you.  You are a part of my support system, part of Little J's journey, and that means a lot.  I know our journey is up and down and all over the place, and you are still here cheering us on.  THANK YOU.

If you follow J's Journey via blog, Facebook page or my personal Facebook, you've probably noticed that most hospital stays end up with me becoming a little emotionally charged.

I want to explain a few things; some things that I recently have analyzed and that are likely not understood by others who are not frequently in and out of hospitals.  We just got finished with another difficult hospital stay.  As usual, it was not fun, full of drama, had many ups and downs, and left me feeling completely exhausted, frustrated and out of control.  I've often wondered why I struggle with hospital stays.  I've wondered if I really wasn't made to be on this crazy journey.  I've wondered if it triggers my depression, my fight of flight response or just brings out my aggressive side.  But last night I had a whole new understanding come to light, and honestly, it really doesn't have anything to do with ME or my issues.  It just is.

There are many many families out there who have experiences with surgeries, illness and hospital stays.  I would assume most families do at some point.  Most families don't have to battle their way through.  Most families don't have the drama and the arguments and the frustration we do during hospital stays.  Most families get through without having a meltdown.  Why is that?  Is it simply because our family experiences more hospital stays than most?  Maybe, but I don't think so.  I would dare say that many special needs families who are frequent flyers at a children's hospital do understand our regular struggle and have had some difficult hospitalizations.  But even for many of them, it doesn't seem to be every stay that comes with so many challenges  I have come to realize that our very specific circumstance sets us up for very challenging hospital stays, nearly every time.  It's not me or my personality; it isn't the doctors; it isn't Jayson and his conditions; it isn't mistakes and misundertandings; IT IS THE SYSTEM.  And I don't see it changing any time soon.

Here are why hospital stays are so hard for our family, with our specific situation:

**Jayson is undiagnosed.  There's no name to the syndrome or disease that seems to affect every part of his body.  His genes are different, and this affects everything he is made of, and we have no idea what it is.  We do not know what to expect.  We can't and don't have any expectations for recovery time in a hospital or possible challenges we might encounter.  We don't have timelines.  We don't have a set of warnings or an instruction manual that comes with a diagnosis.  We don't have explanations for what is happening, what is going right or what is going wrong.  We don't have an answer key to our questions, other cases to refer to, or other families to cling to.  When you don't have a diagnosis, you don't have experts.  We don't belong, anywhere.  And NO ONE knows anything, because the very thing affecting every gene is in body does not even have a name.  This honestly affects absolutely everything during a hospital stay, including my personal sanity.  I cannot leave his bedside because I am his expert. I can't simply say, "He has {insert name here} syndrome" and have the doctors instantly nod and understand what he deals with on a daily basis.  I have to narrate a lengthy history and list of conditions each and every time someone enters the room, and ensure I am constantly available and by J's side to answer questions about his conditions and care.  Without a diagnosis, no one is Jayson's expert;  no one understands Jayson or what his body is doing, which manages to frustrate and confuse doctors, surgeons, nurses, technicians, phlebotomists, radiologists, lab techs, Mommy and Daddy, and even Jayson.

**We don't have "a guy".  We have no guys!  When there's no diagnosis, there's no expert.  But even more challenging with Jayson, we don't have that ONE THING that seems to affect everything else.  He's not a heart hero, a kidney kid, or a preemie.  His lungs aren't causing his issues, his GI system isn't throwing everything off, and his airway doesn't collapse with everything we do.  He is very neurologically complex, but sooo complex neurology is perplexed and doesn't even accept him as a typical neuro kid.  Most of our friends who have special kids have that "one guy".  As they are headed inpatient with an emergency, they often send a text, an email or a phone call to their guy.  That guy is involved on a personal level, and coordinating the care.  He either shows up at admission or at some point during the stay.  He reviews labs and decisions made by the hospital team.  He crosses t's and dots the i's.  He is constantly protecting that one organ or that one system, and making suggestions for care that he commonly sees with kids with that condition.  He makes sure that kid is taken care of, because he's their guy.  We don't have any of those.  J does not have one main organ system that is array that makes him stand out to a particular specialist, who in turn becomes his advocate and his expert.  Instead, Jayson has quirky things with nearly all of his systems.  None of them is responsible, but they are all affected.  We don't have that one doctor to call.  In fact, at this point, I do not have a single personal phone number to any of our doctors, not even our pediatrician.  That may seem alarming to many special mommies when many of them have their "guy" on speed dial, but we just don't warrant that type of care since J doesn't seem to have one specific condition that is responsible for the bulk of his issues.  I should mention the closest thing we have to "a guy"-- Dr. M, our comprehensive care doctor.  She is amazing and coordinates a lot of Jayson's care.   We go to her A LOT.  She is available via email 24/7 and helps us so much.   However, we only see her every 6 months and her workload is HEAVY.  She has all of the most complex kids.  It seems it's easy for Jayson to get lost in that shuffle too.  Additionally, she doesn't really do rounds at the hospital.   She can't just show up when we are inpatient, and she can't manage things while we are there.  She is busy in clinic with patients.  Even with her on our side as a key player of our team, we need "a guy", but I don't know who would be qualified to fill those shoes.

**We don't have a leader to our team.  We have 17 doctors and specialists.  That's a lot of doctors.  When that many professionals get involved in one child's care, things get complex and complicated.  We don't have a team leader or one main doctor coordinating Jayson's care.  It would be easier for hospital inpatient teams to collaborate and connect with Jayson's doctors if we had a team leader, a single point of contact, one main communicator and Jayson expert.  When you have so many members to the team without a leader, it is difficult to know if, when and how things are getting done. When Jayson goes inpatient for a neurological issue, I'm sure our team of doctors would assume that our neurologist would have been contacted and be in touch with us, that he is the one handling things.  It never happens that way.  Our specialists are not individually contacted, not even when the problem exists within their specialty.  With 17 players, team members assume Jayson is being taken care of by a member of the team and that his needs are being addressed by somebody.  Without a leader, the ball is dropped and no one is taking care of Jayson.  Again, Dr. M with Comprehensive Care is the closest we have to that.  Coordinating J's care is basically her job.  But that's just it, she is responsible for coordinating alllll of her very complex patients' care, and it usually doesn't transfer to inpatient stays.  We need a team lead doc who steps up because he only has a handful of complex patients he is highly involved with, and Jayson is one of them.  We don't have that person, yet.  So in the hospital, Mike and I have to be the team leads. We are the ones emailing doctors, collecting medical documents and clinical notes, contacting specific clinics, making phone calls, reaching out and keeping key players informed.  We are the ones who bring more than one doc together in an email to discuss a concern or a problem.  We are the ones who bring up possible conditions, diagnoses, or solutions that we research on our own.  We are the ones who are thinking of Jayson and problem solving.   With many complex kids, there tends to be one main doctor who is frequently thinking of that child, reaching out, collaborating, problem solving, connecting with other doctors, and remaining involved in the inpatient hospital care.  That doctor tends to be the expert of their diagnosis or main condition.  They tend to be the main point of contact when issues arise, and they can get other doctors together. Due to the facts mentioned above, we don't have an expert or team lead.  All of J's docs give Jayson excellent care on an outpatient basis, individually, in their offices.  When we call for them, they are often there.  But there isn't anyone taking control, keeping everyone informed, or reaching out when Jayson isn't doing well in the hospital.  The hospital teams don't  have a team lead doctor or expert to contact whenever we are inpatient or a person to contact when they are stumped.  I often wonder what good it is to have so many brilliant minds as a part of our team when nobody ever gets those brilliant minds together to think of my child?  I wish we had a doctor who felt strongly they should take the lead and be Jayson's expert and coordinate his care.

***The hospital system is not adequate for complex kids.  In short, the hospital system sucks, bad. To put it bluntly, it makes no sense for a team of strangers who know nothing about Jayson and his complexities to make life-altering and life-saving decisions for my child in a hospital setting without involving his team of experts.   Most people have no idea how hospitals run, but it is crazy.  It makes no sense for kids like Jayson. Let me explain it to you.  We have all of these doctors and specialists that we see on a fairly regular basis.  They become very familiar with Jayson.  They know about his conditions, allergies, typical reactions and responses, surgeries, complexities, anomalies, sensitivities, successes, and developmental progress.  Even with as much as they know about Jayson, they are frequently stumped and perplexed, but nevertheless, they are his team of medical experts.  It has taken them 3 1/2 years to come to know as much as they know about Jayson, which has involved a lot of mistakes and trials and errors.  For some doctors, this has involved much more than just clinical visits.  For some, this involves frequent emails, videos, phone conversations, and consults with their nurses.  Hundreds and hundreds of hours have gone into these relationships with his specialists to get them where they are slightly comfortable and familiar with Jayson, his needs and his care.  YET, once we go inpatient we are assigned a random "team" and our specialists are not a part of that team, whatsoever.  As part of this hospital team in a teaching hospital, there are MANY people in long white coats:

1. There is an attending doctor who is licensed and responsible for student doctors.  The attending likely has a large ego, inadequate bedside manner, and is often mute and behind the scenes.  Some are fantastic. 
2. Then there an intern, a graduated resident doctor in their first year of residency, we call them baby docs.  
3. Then there is often another resident or two who are graduated doctors who range in experience and years in their residency.  
4. In many teams you will also have a fellow, who has finished their residency and is getting advanced training in a particular subspecialty.  

The student docs are typically the ones families interact with the most.  You never know what you're going to get; it can be a doc-in-training who avoids eye contact with a voice that trembles with every word or a know-it-all bookworm who spouts off memorized phrases from their medical text books with ease. Most of the members in white coats maintain closed mouths, avoid nodding and simply track those speaking very intensely with their eyes, wishing they had a way to take notes about everything being said.  If you're lucky, you might end up with a caring resident who takes the time to sit down to talk to you, look you in the eyes, and take notes on what you're saying.  Those residents are gold.

This team of doctors comes by every day between usually 9-11 and they stay for about 5 minutes in your room.  A good team asks questions and start a good conversation.  Most just spout off numbers they saw in the labs or medical notes and a share a plan that is not customized whatsoever to your child's situation.  They say they will come back later that afternoon, but rarely ever do.  They have all of the power.  You have a question?  It has to be message logged to the doctor who may or may not acknowledge it that day.  You have a request or suggestion?  A page is sent, which is only sometimes returned.  You want a change of care?  It's going to take a minimum of 24 hours.  And we're talking for something small, like your child needs a suppository.  No one can make any decision regarding your child without this team.  They call all of the shots, and they know NOTHING about Jayson.  It has taken 3 1/2 years for our specialists to get to know all they do about him, but these doctors who have spent 5 minutes with him are the ones making every decision about his care, often in a situation of crisis or emergency, and they have no knowledge of Jayson.  They don't ever consult with Jayson's team of specialists, ever.  In fact, if you suggest it, it offends them and damages your relationship.  Our doctors who we invest so much time in are not permitted to easily become involved in Jayson's care during an inpatient stay.  They aren't all notified when he is in the hospital, unless I call them or send them an email.  There have been several times where Jayson was not responding to illness or a surgery in a typical way.  The attending team comes up with all of the these plans that would work great for a typical child who follows a typical pattern of recovery.  But we have to go through the motions and allow Jayson to get worse and not respond to their typical plans before we can get them to try less traditional responses.  If we could consult with J's team, many of his doctors would automatically skip the traditional treatments and move to a more customized plan for Jayson.  There have been many times we have discharged earlier than we were comfortable for the simple fact that we could get to our regular doctors more easily and quickly OUTPATIENT to receive the care Jayson needed.  That is sad, and the system is broken.  Jayson's doctors who care for him all throughout the year should be the ones informed when he is inpatient.  They should be encouraged to send in suggestions involving his care, and they should be respected enough to be heard.  Jayson has paid the price too many times for the faulty hospital system and how it works during inpatient stays, and it frustrates me to the point of aggression every single time.

**The simple explanation:  Things never go as planned.  With Jayson being so complex, you can place a bet on the fact that things won't go as planned.  An outpatient procedure often turns into an admission, a 2-day stay turns into 4.  It gets tiring and frustrating for things to never go as planned.  There's a lot involved in this simple explanation, too.  Hospitals receive a lot of pressure to follow protocols and insurance guidelines, including length of hospital stays.  Far too often they focus on this pressure rather than the patient.  For typical kids, they can follow a typical treatment, recovery and discharge plan.  But for Jayson, that pressure is just frustrating and annoying.  I can't make him recover any faster.  I can't help the fact that his labs are off or his pain isn't well controlled.  It's not my fault that when we get one problem under control, another pops up.  I already feel that stress from Jayson as he's trying to get better; I DON'T want to hear it or feel it from the hospital administrative end of things.  I don't want to feel pushed out the door or like the team is frustrated because Jayson isn't responding as he should and we are ending our allotted time for a stay and they aren't any closer to understanding what is going on.  Even more, I don't want to feel pressured to discharge before Jayson is ready.  I hate coming right back.  I wish instead that there was more flexibility with these complex kids and that they were able to take their own course.  I wish that we expected things to not go as planned and that there wasn't a timeline or pressure.  I wish Jayson got to lead the progress of our hospital stay and that it wasn't based on numbers and dollar signs.

 **Involved parents are often seen as a pain.  I have experienced enough hospital visits and overheard enough conversations among professionals to know that I am never liked.  Hospital teams love easy going parents; even absent parents are great!  They don't like the ones who ask about the exact lab numbers or data.  They don't like when their plans are questioned or when they request an explanation for a particular decision or plan of care.  They especially don't like it when they are challenged or if a parent offers a suggestion.  It is easier for the hospital teams to NOT have an involved parent.  Many times I have overheard conversations in the hallway among team members that have included statements like, "Mom is very involved."  In nearly every clinical and hospital summary note for Jayson, it states something like, "Mom is very involved."  I highly doubt one would dare write on a summary note, "Mom was absent." or "Mom wasn't really there." And I don't think they would note something like, "Mom was agreeable and easy going."  It comes across to me that being involved is seen as a bad thing, and it is carefully noted.  It is never commented how helpful it is that we are so involved or that we bring a lot to the team.  I don't really care how it is viewed, because I am J's expert.  I am his advocate and his voice, and I will always be there.  But I wish that my involvement was seen as the ASSET that it is, instead of a pain.

**No sleep, no breaks, no contact with the outside world.  These are the things that drive any parent mad during a hospital stay, but some of the things mentioned above exacerbate this problem for our family.  It's not only the vitals, monitor alarms and frequent door openings that keep me awake at night during a hospital stay.  I also am awake all night because things rarely go as planned, my son rarely responds the way he is supposed to, and he needs someone who knows his baseline to watch him all night.  He doesn't have a diagnosis, so they don't know what a kid with his diagnosis does during the night.  When Jayson struggles, it's often at night while he's sleeping.  Jayson doesn't show pain.  Jayson doesn't vomit when he's in distress.  Jayson has random breathing episodes that no one understands.  Jayson's signs are very subtle and I have to relay the message.  He frequently sets off alarms and I have to explain to nurses when his behavior is concerning and when it is Jayson doing Jayson things.  I am also often awake at night preparing for the next day's rounds.  Many of the teams don't have the time to review all of Jayson's history and charts; they can't simply look at a diagnosis and know what that entails.  They too often assume Jayson will follow a typical pattern, and when he doesn't that it will resolve on its own with time.  Some teams come in and try and argue with a current diagnosis; others try and throw out a new one without much thought.  I have to be prepared so that I can quickly and clearly summarize my son and what we know about him, and that involves many rare things doctors are not always familiar with. I have to have evidence to show that my son is seizing, in pain or sick.  My son's seizures don't register on an EEG, he doesn't cry when he's in pain, he doesn't run fevers with infections, and he doesn't always look sick when he's in trouble.  There have been many nights I have had to collect clinical notes from our medical records, videos of behaviors at baseline and videos of concerning episodes, pictures of Jayson well and pictures of Jayson sick.  I have reviewed past blog posts to review past problems and findings.  I have reviewed screenshots of whiteboard notes from past hospital stays to remember information that was not included in hospital summary documents.  I have read medical journal articles to understand lab results or findings and I always get online to review Jayson's labs, tests, procedures and medical notes from the hospital stay to ensure nothing is missed.  I study terminology the doctors mention so I can understand it and know which questions to ask.  I collect all of this information and my questions in a tight little package when the team is not adequately responding to Jayson's needs because I know I have ONE chance, only three or four minutes, to communicate all of these things to Jayson's doctors, get answers to all of my questions, and do anything I can to help the team understand Jayson, which will help them in treating him.  Because he's non-verbal, mobile, and undiagnosed, I don't ever leave his side.  He can't tell his nurses how he's feeling or what he needs.  He can easily climb out of his bed, fall down and hurt himself without someone right next to him.  Anyone who walks into the room needs me to be Jayson's expert since he doesn't have a diagnosis.  And I can't take the risk of missing a doctor who might come in while I run to lunch or to take a shower. I never leave those four walls of the room, ever, for days. I don't know the date.  I don't know the weather.  I don't know if it's day or night.  I don't talk to anyone about anything not medically related the entire time I'm there.  This alone is enough to drive a person mad.  Combine it with our other challenges, and I am completely losing it by the end of a hospital stay.

So there you have it.  Here are some reasons why we struggle every single hospital visit.

No, I don't crave the drama.  No, I'm not a controversial or aggressive person.  No, I don't go into a hospital stay with my boxing gloves on.  But I inevitably find myself wearing them because the process stinks.  The system is against us for these reasons, and we are just more likely to have a rough hospital stay than a good one.

I can hope that the system can change, and I hope to be a part of it.  I know the hospital we visit is aware of some of these needs and I also know they have some plans to address them.  I hope to see these things come to pass.  I also hope things get easier as we come to know more about Jayson, his conditions, and maybe even get a diagnosis.  But in the meantime, we need patience, love and support from those around us.  We will find ourselves in the hospital often, and it likely won't be a fun experience.  I will blog about it and write about it on Facebook.  I don't mean to complain. I don't mean to be negative.  I mean to be real with you.  I hope this blog post helps you understand a little more about our experiences in the hospital, why it is so challenging, why we may not answer or return phone calls, why we are emotional, why we get frustrated and aggressive, and why it takes a while to recover from the physical, emotional and mental trauma from a hospital stay.