Setbacks

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

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

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

Just then, the vomiting started.

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

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

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

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

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

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

Yes, my son's heart rate hit zero.

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

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

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

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

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

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

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

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

Me:  "Powerade Zero.  Grape flavor."

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

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

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

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

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

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

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

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

Keto:  "What do you suggest?"

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

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

Me:  "Um... okay thanks."

And that was that.  Helpful, huh?

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

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

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

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

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

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

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

ANOTHER VIRUS.
A bad one.  Adenovirus 40/41

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

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

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

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

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

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

Searching for Mutations in MN1 Gene

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

Renewed Hope- Genetics Update

 

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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.