The Cost of Loving a Medically Fragile Child

We all have difficult moments.  Every human endures pain and heartache.  It's an unavoidable part of life.  For most of us, the pain that cuts the deepest and stings the longest is that felt from a loss of someone we love.  In many cases, losing a loved one changes us.  We are never quite the same again, sometimes for the better and sometimes for the worse.  All of us will experience the loss of a loved one.  None are preserved from that pain.  But I want to open the door into a world all are not familiar with.  It is unique; it is hard; it is painful.  It is the cost of loving a medically fragile child.

Some of the hardest losses to come to terms with are those involving children.  They are unexpected and go against nature.  Children aren't supposed to die!  But in my world, they do.  Often.  They go before they've lived.  They're gone before they're healed.  They are no longer here to live the long, bright future they had in front of them.  It's tragic and gut wrenching, every single time.  It honestly messes with our heads when a child dies.  Children are pure, innocent, and shouldn't suffer.  But they do, every day, and I see it.  Children in the special needs world are in and out of the hospital, constantly battling death.  They defy odds only to suddenly fall to a common illness.  It's unpredictable.  Many times it's sudden.  Every time it's not fair.  Friends in my special needs world are constantly grieving.  We lean on each other to get through the good times and to celebrate the small miracles and milestones the rest of the world doesn't understand or acknowledge.  We need each other to stay sane.  We build ridiculously strong friendships and bonds with our special needs families.  We become communities, and sometimes family.  But when one of our own loses a child, there are not words to describe the grief.  It's intense.  It's raw.  It's personal.  Many of us have had our child stare death in the face.  We have felt that pain, and barely escaped its attempt to consume us.  When one of our own loses a child we feel that loss almost as if we lost our own child.  The pain is too real to forget or deny.  We grieve deeply and it greatly affects our lives, routines, interactions with others, mental health and journey.  These grieving cycles happen much more frequently for special needs families than the average person.  We lose children regularly.  We know we'll lose more.  We cry today knowing tomorrow's loss may bring more tears.  Yet we continue to love.

Sometimes I wonder if the pain and loss is too much?  I wonder if I can escape it by denying my child's own fragile state and attempt to blend in with the typical world.  I ponder if my heart would be lightened by leaving my support groups, abandoning some special friendships, and turning a blind eye to those I know fighting battles in the hospital.  Would these actions ease my pain?  Would they improve my mental health and outlook on this worldly experience?  Perhaps.  But it is impossible.  Typical humans outside of the special needs world have these choices to make.  They can go to work and care for their families without encountering a medical emergency or need for medical intervention or advice on a daily basis.  They can experience daily life without needing to see sick children regularly.  They can ignore the fact there are children dying until they watch the news or see a GoFundMe request on social media.  I cannot.  That, unfortunately, is not my world.  Sick children are all around me.  They are at the doctors' offices where we spend a great deal of our time.  They are across the hall in the hospital fighting when we are there for treatments, ER visits, surgeries, and frequent hospital admissions.  They are in the surgery and radiology waiting rooms and in the line at the pharmacy. Even by abandoning my ties to support groups, I will still encounter sick children and loss.  And these support groups bring too much to our lives to leave.  Losses in my support groups may bring me pain, but without them how do I problem solve a tough medical situation with other highly intelligent special needs moms who can help us avoid an unnecessary trip to the hospital?  Without them, how do I find that cream that will help get rid of infection or granulation tissue on my son's G-tube site when he's allergic to everything?  Without them, how do I find alternatives to more medicines and procedures that can help with one of my son's dozens conditions?  Without them, how do I find social events that are emotionally and physically safe for my child and family to attend?  Without them, how do I socialize and feel accepted, loved, understood, and supported in a world that doesn't love, accept, understand or support my child or unique family?  To survive this special needs journey, I need a lifeline.  My support groups are my lifeline.  I need them and I need the people who belong to them that mean so much to me.  With that love comes pain.  A lot of it.

When people learn of the premature loss of a child in their community, most feel something ache in their hearts.  Many think, "Oh my.  What if that were MY child? I can't imagine."  It's true.  Once you become a parent you belong to a club that comes with a lot of feelings, including sad ones when another parent loses a child because we simply can't imagine that kind of loss.  But most of those typical people can quickly abandon the ache in their hearts by reading a funny meme on Facebook, watching an episode of their favorite show or by texting a friend.  And because it's painful, they can choose to avoid thinking about that sad incident again.  It's very different in the special needs world.  Yes, we too feel that ache in our hearts, but it's so much more than an ache.  It's an all consuming, deep, dark emotion that we feel beyond our hearts and well into our souls.  Yes, we too think, "What if that were MY child?" but the difference is, we CAN imagine.  And it doesn't stop there.  We think, "It could have been my child," "It should have been my child," "It almost was my child," or "When will it be my child?"  You see, parents in the special needs and medically fragile world are very familiar with grief.  We have all grieved very deeply for the loss of our children.  No, not all of us grieved the loss of their lives, but all of us grieved the loss of the life we thought they would have.  We have grieved the loss of skills, dreams, abilities, hope, milestones, rights of passage, experiences, and the future.  We have mourned the loss of our children in many ways.  Additionally, there are parents of the medically fragile who have had their children knocking on death's door.  Some of us have known that our children had a very real possibility of leaving this world depending on the following day's events.  Some parents have had to prepare funeral plans and make end of life choices for their children who eventually recovered.  To endure these things results in the initial phases of mourning the loss of a child's life.  To feel that degree of pain is life changing.  You never forget it.  It lives in your worst dreams and is awakened with any medical scare.  These parents are very familiar with the grief and potential devastation of losing a child, and that pain is felt whenever a fellow special needs parent experiences the worldly separation from their child.  We don't just grieve for the parents; we literally grieve WITH them.  We feel a very real degree of their pain.  And if you can't fight it off, that pain and grief consumes you as you are filled with the memories of your own child's fragile state or reminded of the fast-approaching fate of your own child.  Very suddenly, you may find yourself concurrently grieving the loss of a beloved child in your community and reliving your own grief cycles you have experienced over the years as a medically fragile parent. These feelings of grief are intense, disabling, confusing, and all-consuming.  It rocks your world.  It affects your work, your routines, your life at home, your ability to process reality and your general ability to live.  For some, it greatly affects their mental health and ability to cope.  For others, it can send them spiraling back to a dark place they had barely crawled out of.  People in the typical world can often avoid this deep, life-altering level of grief or pain when losing a child in their community.  But for those of us in the special needs and medically fragile world, this is our life.  When we finally begin to heal and cope, we lose another precious child in our special needs communities.  The grief never truly ends.

Why am I sharing these things?  Well, because I'm grieving with a lot of my friends.  I'm grieving the loss of a child I cared about, Atticus.  This beautiful boy was Jayson's age and they shared some similar conditions.  His mom and I have been friends in support groups and friends in real life.  His exit out of this world was quick and unexpected, and it has deeply affected me.  I loved this boy and I can't come to terms with the fact he is gone.  I fear what this could mean for Jayson and I'm scared to think of his future and how long I might be a part of it.  I hurt so very much for my friend, Atticus' mother.  I feel a very small portion of her pain and it kills me.  I'm grieving this loss just after the loss of Lily and just before the loss of Antonio, two other very loved children in our special needs community.  These losses are all local; of course there are more in my more extended networks and communities.  This isn't the first time I've deeply grieved the loss of a medically fragile child, and one of the hardest things to accept is that it won't be the last.  I want others to understand my grief and the grief of my friends.  This special needs journey is so very difficult, and loss is one of the many reasons why.  Many of us are constantly grieving.  That doesn't mean we are depressed or that we aren't grateful.  It means our world is full of pain and we are working through it.  We need your hugs, your prayers, your understanding.  And sometimes, we need you to cry with us.  We need you to understand we are mourning and grieving the losses of amazing, phenomenal, special children who were too good for this world.  We need you to ask us about them and help us remember and honor them.  We want you to notice their absence, even if you didn't know them and their larger-than-life spirits.  They have changed our lives and we want their existence to change the world.  

After reading blog posts like this one, it is common to feel the sudden desire to hold your own children a little tighter.  Go ahead.  Squeeze them tight.  But if you can, please do just one more thing?  Think of a family you know who is on this special needs and/or medically fragile journey and decide on one thing to do to help lift their burden.  Come by just to share a hug.  Send a sweet encouraging message.  Serve them in some way or steal one of them away for an intimate chat.  Let them know you are aware of their pain and their intense love for their special child.  And if the family has lost a child, please talk about their child and the impact they had on this world.  Do something special to honor them and spread kindness in their name.  Don't let it ever be forgotten that they lived and they were loved.
Atticus, Lily and Antonio- you are LOVED and you will never be forgotten.

Atticus Lawrence Lang

Adios Ketoacidosis and Ketogenic Diet

I often compare my child to a superhero.  Let's be honest, Little J is probably cooler than Superman.

And we know that Superman can do pretty much anything.  He has supernatural powers.  His vulnerability is only revealed when he encounters kryptonite.

Like Superman, Jayson has supernatural powers.  He conquers every villain that comes his way.  However, Jayson's vulnerability is revealed by his own version of kryptonite-- KETOACIDOSIS.

What is ketoacidosis, exactly?

Ketoacidosis: A life threatening condition in which your body has a dangerously high amount of ketones which makes your blood too acidic which can change the normal functioning of internal organs like your liver and kidney.  Without treatment, sufferers can go into a coma or die.
(http://www.healthline.com/health/ketosis-vs-ketoacidosis#Overview1)

Sounds scary, doesn't it?  It is.

Jayson has been in ketoacidosis many times.  When he first started the Ketogenic diet, he struggled big time.  They told us we were one of the very unlucky few who struggled with managing blood sugars and ketones.  Jayson had high levels of ketones very quickly with a lower ratio of the diet.  Most kids start out at a 3:1 ratio and work their way up to a 4:1 to get in an optimum level of ketosis.  Jayson started out too acidic on a 3:1 ratio.  After months of experimenting, we tried 2.75:1 and then lowered to 2.5:1.  Finally Jayson was out of acidosis on a regular basis, but the smallest thing could send him into acidosis again.  The keto team told us that technically such a low ratio is considered an Atkins diet and not the Keto diet.  I had to remind them that if the results were the same at 2.5:1 compared to 4:1, it was still the Keto diet.  Jayson had high levels of ketones and was in ketosis with just a small ratio.  This told us something about his metabolic system, but we didn't know exactly what.  He was just different.  Unique.  Complex.  Tell us something we didn't know. :)

Any time Jayson got ill, he got acidic.  Stomach viruses were his worst enemy.  Unfortunately, he's battled FOUR stomach viruses in just a year while he was on the diet.  After bouts of vomiting he would go in and out of consciousness and be as limp as could be.  He couldn't lift his head and was extremely tired and lethargic.  He would vomit for days and weeks, instead of just hours like normal kids.  He couldn't regulate his body sugars or tolerate any tube feedings, even clear liquids.  His gut would literally shut down and he's suffer from post-viral gastroparesis every time.  It would take weeks to months to get him back on his typical feeding regimen with tube feeds.  Oral feeds took much longer.  Due to the complex nature of balancing sugars and ketones, Jayson ended up in severe ketoacidosis with every stomach bug and was usually hospitalized or at the very least treated in the ER with iv fluids.  For those familiar with labs, the diet, etc. it may surprise you to know his bicarb would get down to 12.  TWELVE.  Normal low is 18-19.  And he didn't look as sick as he clearly was during these times.  Since Jayson responded so differently to the diet in general, illness, clear liquids and feeds, we did not receive many answers or much support during these illnesses and experiences with ketoacidosis.  It was very frustrating and unsettling.  Our hospital only has a two person Keto team consisting of a neurologist and a dietician.  I have been surprised at the keto neurologist's lack of knowledge about the diet, honestly.  I was given a small book during training and told to read a larger book once we started the diet.  When I would talk to this neurologist about things I had done or tried to treat acidosis or illness she would question me, and I would remind her that it is what it said to do in the books... that she gave me!  It was literally Keto Diet 101 level of information that she should have known.  The dietician had been more helpful, but she wasn't a doctor which hindered her knowledge and ability to give recommendations.  This team only works or is available a couple of days a week, and absolutely NOBODY else is familiar with the diet.  Not other neurologists, not hospitalists, not the ER, not nurses.  NOBODY.  Only this team and the parents.  Not very reassuring, is it?  We had stopped our follow up visits with the Keto team because quite frankly they were a waste of time.  Including them, we had 19 doctors, and it was getting exhausting traveling to Prinary's all of the time.  They couldn't answer my questions and they could only report how different Jayson is, how he shouldn't be on the diet because his seizures don't register on an EEG, and how complex he is.  Because of our knowledge of Jayson, our team and I decided we could manage this diet and monitor his labs on our own.  That served us well, until times of crisis.

So we've been here before.  We've been down this ketoacidosis road without much support in the past.  But this latest experience takes the cake, honestly.  I had to take some time before I could write this post because I feared I may let my anger and frustration show a little too much.  I am more composed, so I will try and relay last month's events in a calm manner.

During our Comprehensive Care appointment at the end of November, the Keto dietician popped in and asked how Jayson was doing on the diet.  He was doing so well!  It had been a year and a half on the diet already, and the average time kids are on the diet was 1-2 years.  We talked about looking into weaning off of the diet over the next summer.  Kids often maintain their reduced seizure status after getting off of the diet, which is exciting!  She also said we were overdue for labs.  Oops, we were!  So we took him downstairs for a blood draw and I got a call a couple of days later letting me know his potassium levels were pretty high.  This can be caused by the supplement he is on to help control his acidosis, called Cytra K Crystals.  We have had to increase his dose quite a bit in the past to keep him out of acidosis, even on a low ratio of the diet.  She said that it is possible that Jayson's body had adjusted to the diet and could maintain a normal bicarb without such a high dose of Cytra K, so we halved the dose to see how he would do in hopes of decreasing his potassium levels.  Two weeks went by without noticing a big change, but he got more headaches.  One Sunday he got his worst migraine he has ever had.  It lasted from about 10am until 10pm without much relief.  He was sensitive to lights, sounds, smells, touch, everything.  He just rubbed his head and cried and he couldn't sleep!  I was beside myself.  I didn't know what to do.  Motrin and Tylenol weren't helping, and I called on-call doctors who all said to bring him into the hospital.  But I knew what would be awaiting us in the hospital-- RSV, Adenovirus, Coronavirus and Influenza.  It's that special time of year!  Finally Benadryl helped him sleep and he woke up better in the morning, but still struggling.  He was much improved by that night and back to himself the following morning.... for a few hours.  I got a quickly returned call that day from neurology and our neurologist suggested we add a migraine preventative-- Topamax.  I was concerned; Jayson is on so many meds already.  THIRTEEN!  I asked if it would interact with anything he is on, and the doctor told me he checked and no it did not.  We started it that night and knew it could take a while to work and that it may come with some side effects, although we were told they would be minimal due to the small dose.  The following day, we noticed a steady decline.  Lethargy.  Out of it.  Neurologically impaired.  Rubbing head and eyes.  Unsteady gait and dizziness.  Lack of oral sounds.  Unwillingness to stand or walk.  Sleepiness.  Sudden appearance of seizures and neurological episodes.  Dysautonomia. Super dry skin.  At first I attributed it to the migraines.  My migraines can affect me for days up to weeks, so maybe he needed time to recover??  My gut told me differently.

After a couple of days, I became more concerned and thought I would take him to the pediatrician to be assessed.  Maybe he had an ear infection causing seizures and then causing all of the other neurological signs.  He had also suddenly gotten petechiae all around both of his eyes.  This could be a sign of something serious, so we headed to the doctor's office quickly.  A lot of the signs were subtle, things only Mike, family, his nurse and I would notice.  But I hoped our pediatrician would listen.  Unfortunately, he did not.  He assessed Jayson and said he looked and seemed fine.  I reminded him of what I had been seeing and asked if I should contact the neurologist or neurosurgeon.  He said no, he wasn't worried.  Whatever I was seeing was likely related to the migraines and would soon go away.  I asked about the Topamax, and if it was too early to see side effects.  Could it be interacting with one of his other meds even though the neurologist said it didn't?  Our pediatrician agreed to check.  He was reading through and read out loud, "Do not take Topamax if on the Ketogenic Diet.  Will result in acidosis."  That read like a gut punch.  Wow.  But I knew acidosis, and this wasn't acidosis...was it?  Our pediatrician didn't think so, and he sent us on our way.  Of course Jayson had a seizure right after the doctor left the room.  Awesome.  I cried almost the whole ride home.  Something was wrong, terribly wrong.  I knew it in my gut, but no one was listening. I feared what the next hours and days would bring.  I tried to put it out of my mind, but Jayson slowly got worse and worse as the hours went on.  I revisited the idea of acidosis.  It had been over 6 months since we encountered acidosis.  I know Jayson didn't present like typical kids.  Did I list the symptoms anywhere??  Thank goodness for social media.  I got on and read through past blog posts.  I did a search in my medical groups on Facebook and found other times I asked questions about acidosis in my support groups listing Jayson's symptoms.  I did a search for past emails between me and Jayson's keto team.  Yes.  Everything I read matched Jayson's symptoms.  We were dealing with acidosis.  It was too late to do anything besides send emails to doctors that night, but I restarted his Cytra K Crystals hoping that would help.

By morning Jayson couldn't wake.  He slept until 2 pm and was not able to wake, despite how hard his nurse and I tried.  Once he woke, he just laid down and struggled to lift his head.  It was bad.  And I heard from NO ONE.  Crickets.  I remembered the Keto team only worked a couple of days a week.  Awesome.  Today was not that day.  I remembered they told me the treatment for acidosis at home was 1-2 ounces of apple juice, so I started it.  Within 30 minutes Jayson was standing, chattering and playing again.  I was right.  I knew 100% I was right.  This was acidosis.  After 6 hours, Jayson was again going in and out of consciousness and was neurologically impaired again.  Another dose of apple juice, and he was better.  We continued this through the night and I hoped to hear from the Keto team the next day or knew we'd be taking him to the hospital.

Thank goodness they responded. The dietician confirmed 100% it was acidosis.  She told me to add back the Cytra K Crystals and to use apple juice.  I told her I had been, but the Cytra K Crystals weren't pulling him out of acidosis and the apple juice was only helping temporarily.  I asked if he needed labs, but they said he knew based on his current symptoms and his history of a low bicarb that he was in acidosis.  There was no reason to expose him to illnesses at the hospital for a blood draw.  I agreed.  She said it was a mistake to add the Topamax because it causes acidosis in kids not on the diet, but especially for kids on the diet.  And Jayson was already prone to acidosis.  However, she said that since we were thinking about weaning the diet soon anyway, we could leave him on Topamax and work with the diet for now.  The Keto neurologist was out of town so we couldn't ask about taking him off of Topamax just yet.  It was Friday with a weekend coming up, so she gave us the formula for his tube feeds to lower the ratio to 2:1 in case he stayed in acidosis.  She was certain if we weaned his diet down this would pull him out.  We found ourselves needing to give more and more apple juice that night, so we decided to wean the diet down to 2:1 hoping to help him out of acidosis.  We spent all weekend at that ratio and still needed to give apple juice regularly.  Things were still not well.

We heard from the Keto dietician again on Monday.  She said that Jayson's metabolic system is different and due to a lack of diagnosis we aren't sure why.  He may be so sensitive to acidosis that the Topamax alone without the diet may send him into acidosis.  She said it had been too long, 8+ days, that Jayson had been in acidosis.  She recommended an cold turkey stop on the ketogenic diet all together.  She feared we had been giving him so much apple juice anyway that his body is not staying in ketosis.  We had to wait for confirmation from the Keto neurologist.  The next day, we heard from the dietician on behalf of the Keto neurologist as well as our own neurologist.  We were to do a cold turkey stop on BOTH the diet AND Topamax.  Both of these typically require a slow wean.  I was uncomfortable and nervous, but at the same time it felt right.  My poor child had been in metabolic crisis for over 9 days.  Something drastic needed to be done.  Perhaps two drastic things needed to be done??  I got online and asked mommy experts in ketogenic diet support groups about the hard stops on both of these.  They flipped the crap out.  Many kids go inpatient to wean off of either Topamax of the diet.  We were managing this all at home.  Most kids are treated inpatient for ketoacidosis.  Mine was treated with apple juice at home.  I had long been shocked and appalled to see the lack of support and care for our Utah kids on the ketogenic diet, but this time it blew my mind and infuriated me.  I felt instantly like I had wronged my son by keeping him home and following doctors orders.  I was scared for him for many days and never took him in because his doctors said he was okay.  We never did labs, how do we know he was okay?  How did we know he would be okay??  I wanted to instantly take him in to be treated for acidosis and be supported in the hospital during such harsh weans, but I feared the repercussions.  When one ignorant hospitalist over a year ago accuses you of over-medicalizing your child and it is in his permanent file and his chart is flagged, it makes you question absolutely EVERYTHING, especially taking him into the hospital against doctors' orders.  I was so torn.  I finally allowed myself the complete and utter meltdown I deserved after watching my child suffer for over 9 days due to his doctors' negligence and there was not a damn thing I could do about it.

I prepared myself to descend deeper into hell over the next few days with the hard weans.  But my child is superman.  No, he's stronger than superman.  His body was in such crisis for those previous 9+ days, that a hard stop to his med and the diet actually HELPED his body.  Let that settle for a minute....  It usually takes weeks to months to wean off of the keto diet, and weeks to wean off of Topamax.  Doing either cold turkey would send your body into complete crisis full of pain, seizures, headaches, vomiting, etc.  But my child's body was already so critical that doing those two hard weans, it actually IMPROVED his health.  Wow.  It didn't get better quickly, and there were a lot of ups and downs.  After 4 days, I tried to send him back to school and he didn't make it.

I called his pediatrician and relayed the symptoms and that he once again was sleeping until the afternoon.  They said he was still experiencing acidosis, and likely would for a while longer while his body adjusted.  Really??? 2 full weeks of acidosis?!!!  I asked if we could please draw labs.  Jayson likely needed fluids and some help to get through this.  He has been trying to get through this for two weeks on his own.  My pediatrician's response?  No.  Not necessary.  See you next week at his well-check.  Sigh...  So we gave him another few days, at home, with the help of apple juice.  Slowly, little by little, we saw signs of our little boy coming back to us.  It had been weeks since we had seen his silly, hyper personality.  It had been weeks since we heard his sweet vocalizations.  It had been weeks since we saw him truly play and love life.  I missed him.  Oh, how I missed him SO MUCH.  And every time we are in this situation, I fear that my baby may never come back to me.  But thank God, he did.  It took about 3-4 weeks to get Jayson near his baseline.  I can finally say over the past 3-4 days, Jayson is back 110%.  Better than ever.  Happy, hyper, silly and overflowing with energy.  Stopping the diet was the right thing.  I haven't seen such a happy active Jayson.  When we started Levodopa, I saw a whole new happy energetic side of Jayson.  We just got another dose by stopping the diet, and I'm loving it!  This boy is soooo full of life!!  I love to see him blossom, and I hope to start weaning more and more meds until we can see the TRUE Jayson without side effects of medications.

It hasn't been all roses, clearly.  It was hell for weeks.  But on top of that, Jayson's poor body experienced more seizures and neurological episodes upon stopping the diet.  His body started having uncontrollable spasms that were so severe they startled strangers and loved ones.  They made him cry and ask for us to help him by putting our hands on his body and signing please.  It's been heartbreaking.  His pulse ox started alarming at night due to low heart rates again, which we hadn't experienced in a very long time thanks to the Keto diet and levodopa.  He was having small constant spasms in his sleep that would get so severe they woke him up.  I feared this was our new normal off of the diet.  Given the fact his body is prone to acidosis and that his seizures never register on an EEG and we believe many of his seizures were actually episodes due to this Paroxysmal Tonic Upgaze, we knew doctors would NEVER put him back on the Ketogenic diet, even if we begged and had proof of how much it helped.  I started to mourn, thinking these jerks, spasms, and neuro episodes may be our new norm and we would have to help Jayson cope with them.  We are so grateful and happy to announce, this is no longer the case!!!!!!!!!!!!!!!!!!!!!!  The past 4 days, Jayson has done sooooo well!!  Yes, there is still an increase in jerks, spasms, and body movements.  But they aren't clustering like a week or two before.  They aren't making Jayson sad or frustrated, and they are more subtle so only close family members even notice them.  We can live with this.  Jayson's got this.

Off of the Keto diet, Jayson is taking off!!!  He ate birthday cake and ice cream on his birthday!!  He is trying new foods and drinks almost daily.  He is suddenly eating up to 20 oz of purees a day and drinking up to 16 ounces of thickened liquids a day (on a good day).  He loves eating and he loves life! We have loved the Ketogenic diet.  It helped Jayson so very much with his seizures and neurological episodes.  His doctors and I saw such physical, medical and cognitive improvement on this diet.  Now we hope that those good things continue like they do for so many other kids!  But now, off of the diet, our son has more energy and isn't battling acidosis on a regular basis.  He was able to get off of 3 medications with more on the way!  He can eat, taste and experience life better off of the diet.  We feel so blessed even though we are angry. Several of our doctors created a large problem for us.  Their combined mistakes caused my child to suffer for weeks, again.  It's maddening, infuriating, and disheartening.  But today, I'm letting that go.  Because today I have happy, hyper, silly active boy who is dragging me away from my computer asking me to eat!  Life is good.  God is good. This was likely all part of His plan, and we are so grateful.

So long Ketogenic Diet.

I don't think we will miss you!

A DIAGNOSIS

After 5 years of
wondering
questioning
tests
research
tears
and prayers

Jayson finally has a....

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

My baby is no longer UNDIAGNOSED.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

"They plan to publish it this next spring."

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

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

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

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

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

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

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

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

 

 

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

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

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

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

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

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

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

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

Big Announcement

Our family has some incredible news to share...

It's true!!

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

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

BABY WEST DUE JUNE 10, 2017

Relief

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

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

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

But for the more important news...

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

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

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

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

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

More Rain Clouds

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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