Update- Bring on the Good News!

It's long past due for an update, and the West home is focusing on the positive in 2016!!  So if you are a fan of good news, you'll like this post!

Here's an update over the past couple of months:

Little J saw an orthopedist on January 4th for complex children to take a look at his newly diagnosed scoliosis and strange gait that causes him to fall a lot while walking. We were relieved to learn that his C-shaped scoliosis is solely positional! He has such low tone it is difficult for him to sit upright, so he slouches. However, he stands up perfectly straight while walking! It's not real scoliosis, just positional. They also said his gait is likely due to low tone and balance issues, and his walking strikes are likely neurological. They said there is not anything we need to do differently; we will just follow up on a yearly basis to make sure things are fine.

We saw a new allergist on January 4th for a second opinion about Jayson's allergies. J has very random and strange allergic reactions that are difficult to explain. His tryptase is normal, so docs feel mast cell is unlikely, but not impossible. When we saw our first allergist in September, we did soooo many blood tests looking for food and environmental allergies to things he had apparently "reacted" to. Strangely enough, none of them came up as a true allergy even though he reacted to eating or touching them. Unfortunately, we were told he had a "severe" allergy to pets and we needed to get rid of our dog and cat. Our dog is hyperallergenic and has hair instead of fur and doesn't shed, but we were told she still has pet dander. Since they are our family members and we cannot have more children, this news was truly devastating. We consulted with some other doctors over the following weeks who all had different opinions about what we should do so we were torn. The allergist in September labeled this as a "severe" allergy and messaged all of our doctors to instruct us to get rid of our pets, but we later learned that the lab results (which were not put on record where we could see them) showed the allergy was very minor, almost insignificant. Our pediatrician advised us to seek a second opinion, and referred us to another allergist. This new doctor actually looked at pictures of the reactions and talked about each reaction's symptoms with me. He looked at Jayson's file and history and had excellent bedside manner. He told me the allergy test results show a very minor allergy, but the symptoms tell him even more-- they are so mild and inconsistent, that he feels they show no threat to Jayson. Jayson does not have asthma nor any current lung issues, so he told us to keep our pets for now and we would re-evaluate in another year. He told us that a butt rash twice a year that lasts an hour which may or may not be related to our pets was the very least of Jayson's issues and he finds real value in pets and the love and peace they can provide a family. We were so relieved to find out this allergy is mild and that he doesn't think it is contributing to any of Jayson's health issues. So for now, our little family gets to stay together-- Mike, Tristin, Jayson, Maya and Jasmine.

On January 26th Jayson had a kidney and bladder ultrasound, some abdominal x-rays and an appointment with his urologist. He still holds his urine from about 6:00PM until 11:00AM the next day, and sometimes until 3:00 or 4:00PM the next day. There was a day in January where he held 22 hours without a wet diaper. This holding pattern he has done for the past 3 years has caused swelling in his kidneys called hydronephrosis. We learned about his hydro in his scan in October, but we hoped it was simply because he had a full bladder. Unfortunately, this is a legitimate condition he now has and his is a grade 2. He went from a grade 0 to grade 2 in 10 months. But the good news is that it hasn't progressed since October!! Depending on how we looked at the images, it may even be slightly better. The doctor wants to monitor this again in 6 months with more ultrasounds but he feels this may just be "Jayson". He is not concerned with a grade 2 hydro and will only insist on daily cathing or intervention if things progress or get worse. I was very relieved to hear this! We are hoping to work more on potty training, although it becomes very frustrating to Jayson when he is incapable of going that first time in the morning. We have a couple of other things we will be trying as well to see if it can help him go earlier in the morning. But for now, things are good!

Jayson saw ENT again on January 28th and we were informed that Jayson's last sleep study was WONDERFUL!!!!! I didn't get the print out, but I'm pretty sure he said NO DESATS and an average of under 3 events per hour. That is unheard of for Jayson. His history is dozens and dozens of events per hour. And when we increased his bipap settings during this last study, he had an average of ZERO events. CRAZY RIGHT?!?!?! So bipap was definitely the ticket for little J!!! I know this doesn't accurately reflect our "rough nights" but I sure feel comforted knowing what his good nights look like! They look REALLY good.

Our ENT also said enough is enough and Jayson got T-tubes put in his ears February 9th. They are a longer term tube for his ears that we are really hoping work for him. He's had tubes in the past and they haven't helped much.  His anatomy is unusual and challenging with the tubes and he may have even had an allergic reaction to the previous tubes. So we are trying T-tubes to see if they help minimize infections and get rid of the fluid behind his ears.

Little J got another big lab draw recently to check his labs after being on the keto diet. Some of his labs concerning his liver and kidneys haven't been great in the past, so we were keeping a close eye. This lab draw they were PERFECT! We are at just the right ratio to control his seizures and keep him and his organs healthy! His body has adjusted to the diet, and readjusted after two tummy viruses. We are so pleased!

Jayson has made some great progress in feeding therapy and we set some new goals! He is eating some solids and increasing his daily intake as well! He's also drinking a good amount, trying to hold his cup, and trying to self-feed. Because of those improvements, he is being referred for outpatient OT where he can practice feeding himself, dressing himself, etc. These are things he is really interested in now. He starts OT in March.

In November we got a referral for outpatient PT to help J in his walking. He hasn't made a lot of progress in his walking in regards to endurance, speed, or taking on stairs/curbs/etc. over the past year. We just had his initial eval today. He qualifies for WEEKLY PT for a while. The PT pointed out he has soooo many things working against him including his seizures, neuro conditions, ears (balance), vision limitations, rib structure, back structure, shoulder blade structure, low tone, diaphragm issues, hip concerns, feet concerns, etc. I walked away overwhelmed and SO GRATEFUL that my miracle boy can walk with so much working against him! It made me really appreciate what he CAN do but also realistically see that he may have many limitations. Things will really take a lot of time for him to progress, and that's okay!

Jayson also is making huge baby steps of progress in speech and communication. I made a list today of the tiny steps he has taken in communication over the past 2-3 months and it brought me to tears! He is soooo vocal right now and is working so hard to sign, use his cards, and vocalize his needs to us. I am a very happy, proud mama!

He is a little miracle and we are so happy he is doing so well right now in many areas. I know he will continue to amaze us and all who love him!!

Winter Activities for the Medically Fragile Community

I'm suffering from post-holiday blues, combined with vitamin D-deficiency, with some Seasonal Affective Disorder and straight out germaphobia.  It's quite the combination.  In short, I'm not in good spirits.  There is quite a bit going on in my life right now, so I'm certain that is a big part of it, but I know the reason why I'm struggling to dig myself out of this pit of despair is the fact that it's winter, and winter sucks.

Not only is it winter, but it's
flu/RSV/parainfluenza/human metapneumovirus/rhinovirus/adenovirus/coronavirus
season.
Honestly, any time we go anywhere I feel like we bring home a "friend" with us who always overstays his welcome and puts us at risk of a hospital stay.  So we're hermits, but even hermits have to live a little.  We seriously can't live a good 5-6 months of the year sitting in our living room reading books, playing with pre-school puzzles and watching movies EVERY. SINGLE. DAY.  My mental health is at risk, and I know I'm not alone.  The entire medically fragile community struggles this time of year.  So I decided to put together a list of fun things to do and some safe-ish places to go during winter flu season (always with Clorox wipes in tow).  I plan to revisit this blog post often this winter when I'm sitting in bed, wrapped up in my warm blanket, stroking my fuzzy socks crying; I hope that it gives me the motivation to get out of bed and do something with my day.

Outdoor Places to Go in Salt Lake Area Bundled Up or On Warmer Days

Indoor Places to Go In Salt Lake Area During Less Busy Times and ALWAYS With a Container of Clorox Wipes in Tow

Things to Do At or Near Home

What things do you like to do in the winter to stay sane, have fun and stay healthy?  Please share!!!

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.