We are Not Alone

I don't know that words have yet been invented to describe the loneliness, isolation, desperation and hopelessness that we have felt living this rare, medically fragile life.  To have a child who struggles with life's most basic functions such as sleeping, eating, drinking, and breathing and to not have a clue why is the most frustrating and terrifying feeling in the world.  To be told over and over, "I don't know," "He is so complex," "I haven't seen this before," "There is no one like Jayson," by many doctors, specialists, therapists and professionals is both mind boggling and discouraging.  To be told by a geneticist that odds are against you and you likely will NEVER have answers and NEVER find another child like yours is devastating.  Finding the strength to go on and continue fighting for answers despite these hopeless feelings has been a God given miracle.  I have always held onto hope.  I have been told it may never happen and that I should give up or let it go, but in my heart I knew that one day we would have answers.  One day we wouldn't be alone.

When we learned that Jayson's genetic mutation on the gene MN1 was clinically significant and that there were other children in the world with similar symptoms, conditions and presentation our whole world changed.  Prayers were answered.  Yet, there were still no answers.  How old are the children?  How much are they affected?  Do they typically live beyond infancy?  Is it degenerative?  Are they verbal?  What are their conditions?  Are there any treatments that work?  What are we missing?  What therapies and treatments work?  What are they like?  Do they have sensory issues? Seizures? Breathing issues?  None of these questions could be answered at this time.  In fact, there may be many of these questions that could remain unanswered even after the research is published.  Geneticists and researchers are interested in answering very different questions than parents.  I knew that even though this provided a genetic answer and some questions may be answered once we read the publication, my questions could best be answered by other parents.  So I created a graphic or digital flier.  I shared it near and far, as did thousands of other friends and connections.  I shared my blog.  I ensured my blog pops up when anyone searches MN1.  I created an MN1 Facebook page.  I joined several different professional and medical networking sites, even ones I had no idea how they worked, trying whatever I could to connect with other parents and help them find me.  I regularly do thorough internet searches to see if anything new pops up.  A couple of times I've seen labs mention an MN1 case has been identified.  I've contacted the labs and left my contact information begging and pleading for them to put give my information to the other families.  Nothing has worked.  Different countries, cultures, languages, and HIPPA were all impossible barriers to cross and I have wondered if my efforts were all in vain.  With only 5 other families in the world with this diagnosis, it seemed more hopeless than looking for a needle in a haystack.  How do you find 5 other families in four different countries in a world of 7.5 billion people??  Maybe it really was impossible.

But I held onto to the tiny possibility that it was possible.  I held on to hope.  I prayed with all of my heart that one day, in God's time, I would be connected with another family and we could have more answers, that we could feel that solidarity, peace and comfort that comes from sharing a similar life-altering experience of raising a medically fragile child with the same conditions.

This past weekend I went to the temple for the first time in over five years.  They don't allow cell phones in the temple.  With a child who frequently has had life-threatening emergencies, who has required CPR on numerous occasions and has needed quick visits to the hospital via ambulance or lifeflight, it has felt too risky to go to a place without a cell phone for a long period of time.  Jay has been stable for over a year and I finally felt comfortable attending this weekend, yet my experience was not a positive one for many reasons.  I felt heartbroken, discouraged and broken.  The temple used to be my sanctuary, a place for answers and comfort.  Why was I not feeling that love and comfort?  Why was I feeling such heartbreak, fear and anger?  Many could never identify with my complex emotions, but few have walked my path.  I have lived a righteous life full of good choices that led to us making sacred covenants in temple with God.  In making those covenants I was promised blessings and happiness.  Yes, I count my blessings by the dozens and I find joy in the journey, but there are few things more challenging or more heartbreaking than reviving your child, fighting for his life, and knowing that he will not live a full life full and never have many typical experiences.  My son will never be able to make these covenants in the temple.  He will never marry his eternal companion, or have children.  He will be even be able to be baptized.  If I have lived as Heavenly Father has asked, why have my posterity not been blessed with health?  What will happen with my son??  Sure, people claim those with disabilities are special, and perfect and are angels.  But I don't think there are any scriptural references stating exactly what will happen with my son in the after life.  If I believe that the way back to heaven and to my Heavenly Father is through these covenants in the temple and my son is not even able to be baptized a member of our church, what does this mean for him?  I was struggling.  I was praying hard for peace.  I was praying hard for there to be a blessing from attending the temple, when it seemed all it did was serve as a trigger that sent me into a mild depression for days.  Where was my promised blessing for attending the temple?  Where was the compensation for the pain it brought?  Where was my Heavenly Father when I needed Him most?

I have struggled the past couple of days, almost making it hard to function.  My thoughts sunk me deep and I couldn't get out of my head.  Past traumatic experiences with Jayson flooded my mind.  Past hopeless feelings lingered in my heart.  We got discouraging news about our baby, Jayson's sister.  One evening very cruel and critical words were thrown my way by a fellow special needs mom and I didn't know how to cope.  All of this brought on migraines the past couple of days that couldn't be treated my sleep, medication, or rest.  I worried that I might spiral into depression, and I pleaded with Heavenly Father to help me.

My prayers were answered, as always.  He heard my plea.  I received my blessing for attending the temple.  My Father poured out a blessing, and there wasn't room enough to receive it.  Today God blessed me with one of the deepest desires of my heart.

I was at work this afternoon, talking with a colleague.  Her phone rang and she had to take the call.  I hadn't checked my work email yet, so I grabbed my phone and opened up my email.  I saw three characters jump out at me in a subject line, and I thought my heart stopped.  "MN1"  This must be it!  The research paper must be done!  I held my breath as I clicked open the email expecting to read that the study is complete.  But that wasn't it.  The unexpected finally happened.

It was another family.

I finally heard from another MN1 family.

I cupped my hands over my mouth and tears filled my eyes.  I was losing composure, so I went to my own office where I collapsed into my office chair and sobbed.

I have waited for this very moment for nearly SIX YEARS.  I wasn't sure it would ever happen.  I have fasted and prayed for this very moment.  And it was here.

I read the reread email once the tears cleared my eyes.  A parent was told about my blog from a research lab and she said her tears prevented her from getting completely through my posts.  So many similar diagnoses and presentation.  She thanked me for posting my blog and asked if I knew any doctors who know anything about MN1.

I kept shaking my head in disbelief.  I couldn't believe this was real.  I had to be dreaming.

Nearly SIX YEARS this has been my dream.

I called Mike to tell him the news and he didn't believe me.  He said he couldn't even process what I had told him.  We were both in shock.

I emailed her back asking if we could talk.  I was too excited to wait!  I needed answers!  I needed to know about her son!

She wrote back.  She gave me her number.  She had desperately been looking for me too.

The tears just flowed and flowed.

Tonight, I called her.  Can you even believe it????????  I talked to another mother, one of the handful of other people in this world who could understand nearly every challenging experience I have encountered the past 5 1/2 years.

Soul sisters is the best way to describe our instant relationship.  As she described certain situations and experiences I shook my head in disbelief.  How could two people's experiences be so similar when each of us had been told so many times we were the only ones???  I felt we were finishing each other's sentences.  We sobbed together as we shared experiences about the many nights we tried to help our children breathe and open their airways by tipping them upside down, patting on their backs, turning them from side to side praying we wouldn't need to start CPR.  The exact. same. experiences.  We shared stories of doctors not believing us and some questioning our intentions and why we were pushing so hard for answers.  We shared our heartbreak through dozens of surgeries and procedures, studies and tests our children have endured.  We counted specialists and found that they had us beat-  We had 19 and her son had more than 20.  We talked about the things that doctors can't explain, what tricks we've tried, what has worked and what hasn't.  I took notes ferociously.  I'm smart, but she is smarter!  I have so much to learn!

Her son is 8.  They just learned of his MN1 diagnosis on Friday and today the lab informed her of my blog.  She reached out immediately.  Her son "B" is verbal, thanks to a surgery we may look into.  He suffers from intense migraines, headaches and chronic pain in his head, ears and legs... just like J.  He has low tone, laryngomalasia and depends on cpap at night to breathe.  Without it, he wouldn't be here... just like J.  He has craniofacial abnormalities, palate and cranial issues, and platybasia which is similar to Chiari Malformation... just like J.  He has an unsteady gait with frequent falls and dizziness... just like J.  He has complex sleep issues, severe sleep apnea, chronic constipation and seizures/seizure like episodes... just like J.  He is happy, has sensory needs and is obsessed with spinning... just like J.  He has nystagmus, strange eye movements, ptosis with one eye, reflux, severe allergies, and frequent staring episodes... just like J.  I do not know that another conversation has meant more to me in my entire life time.  I have dreamed of this moment in my dreams, but I had no idea it would be so incredible, so full of emotion, so intense.  There are literally not words to describe the experience of talking to another person who has lived nearly every single one of your nightmares, who bears the same emotional scars, who has shared the same fears and celebrated the same miracles.  She is my person.  Forever and ever she will be my person.

The best news she shared with me is that things with her son are only getting better.  Things drastically started improving for her son after age 4/5.  We have loved all of these milestones Jayson is meeting lately.  We have soaked in every great moment knowing they may not last.  For her son, they have.  That brings me so much peace and comfort.

The highlight of the conversation was this--- There was a pause on the line and she asked, "Do you want to talk to Mommy's new special friend?  She has a son whose head, ears and legs hurt too.  Do you want to say hi?"  My heart leaped.  A quiet voice said on the phone, "Hello."  I started to cry.  I asked him what he liked to do and he told me he likes to play soccer.  He said, "I'm going to pray for Jayson."  I broke.  Too many tears to count.  This sweet boy would be in my life, heart and prayers FOREVER.

I seriously lack the words to explain our conversation or even this whole experience of coming into contact with this other parent.  But I am humbled.  Heavenly Father answered my prayers.  He has heard my pleas over the years and he heard my sobs in the temple this weekend.  He has healed my confused, broken heart through this enormous blessing.  I may not have answered to my many complex, spiritual questions, but my Father gave me an answer to all questions that brings peace to my worried soul--- He is here.  He is aware.  He is loving and He has not left us alone in our trials.  Things will be okay.  They may even be more than okay.

I can hardly wait to think about what blessings lie in store as we start this new journey and friendship.  We just created today, in this moment, an MN1 family.  I'm certain it will grow, and I'm certain my joy and love will grow exponentially with each family we meet.  This is a beautiful journey and an incredible life.  It's not the life I imagined, but I witness miracles every single day.  I live with one of God's most special and chosen spirits.  I learn from his example and he is teaching me to be the person God wants me to be.  I am forever thankful for the privilege of being Jayson's mom.

Thank you for all of your prayers, fasts, vibes, well wishes and support in getting us to this point in our journey.  We truly are blessed.

Stay tuned... I'm sure more miracles are ahead.


P.S. This family lives in South Carolina!!! Anyone have connections for cheap airfare?  We want to meet them sometime soon!!!

Breakthrough

Five and a half years. That is how long I’ve waited for this moment. That is how long I’ve prayed and pleaded to feel this kind of joy. That is how long I’ve hoped, dreamed and fantasized what it would feel like to communicate with my non-verbal son. 

I’ve done a lot of grieving over the five and a half years. In that time I’ve worked hard to accept a lot of truths no parent ever wants to accept and let go of a lot of dreams most parents get to experience. I’ve had to come to peace with a lot of diagnoses and many missed milestones. I have convinced myself in my head that it is a very real possibility my child may never communicate. Why? It has always been his greatest challenge. Every itty bitty step forward was followed by several ginormous steps back. When progress was made it was quickly lost. I have worked with many developmental and speech therapists over the past few years and all of them struggled to see the potential I saw in my child. I have done years of research on genetic syndromes with similar symptomology that Jayson has had. Many of them were forever non-verbal and struggled with communication. It hurt and I mourned so deeply the fact I may never hear my son say, “I love you Mommy,” or be able to tell me where he hurts and what great things went on during his day at school. To cope with the pain, I have forced myself to accept what is. My child doesn’t communicate. He may never. I often think, "Let’s work with what we have right now, keep hoping for more, but celebrate where we are." Even though I was trying to be realistic, I never gave up. We have invested innumerable amounts of time and money in therapists, programs, modalities, strategies, and methods hoping that one day we would have a breakthrough. Well, it happened. The breakthrough happened. And it wasn’t a small trickle of progress. The communication dam broke and the progress flooded my living room, just like my happy tears.

Jayson started ABA therapy 6 months ago. We have loved it even though there were some very big problems. It took months to convince the program directors some big changes needed to be made in order to allow our son to make some progress. Their data showed the progress was minuscule but we as Jayson’s parents saw the small steps forward even with the challenging situation and knew with the right person and the right setting, Jayson would soar. In attempt to find a way to meet our demands, we had to go without a therapist for a month and a half. It was heartbreaking to watch Jayson go to his therapy chair asking to learn and we had no one to teach him. Finally, we received a new therapist last week. She’s new and very teachable. She bonded with Jayson quickly and I saw a ridiculous amount of progress in one 2 hour session. I got butterflies in my stomach thinking about what might happen after weeks and months of 2 hour sessions five days a week. It felt so right. 

Jayson’s goals were rewritten to focus on following directions and communication. The program supervisor got us an ipad from UCAT with a communication app/program on it called Proloquo2go. I’ve done research on this program and we have tried something similar in the past without any luck. I was hoping with how well Jayson has been progressing lately that maybe he could make some progress with this app, but I knew it would be slow. We started with just two pictures, a phone and a bus. The phone represented the therapist’s phone with some of Jayson’s favorite vocabulary flash card apps. The bus represented the “toy of the day” that he has had for several days now. It is nicknamed the “Letter Bus” because it’s a magnetic bus that allows you to put letters inside as it sings the letter name and sound. Jayson immediately understood how the app worked even though we used symbols rather than real pictures to represent his two favorite things. I was surprised and excited. The next goal was to work our way up to four objects for him to choose from. I thought it sounded reasonable and I was excited to see how Jayson might make some progress. 

Well, I worked the next few days away from home. I met the new therapist on a Wednesday, I had to work Thursday and Friday and the following Monday. Jayson’s nurse and his dad saw the past few therapy sessions. They seemed pretty optimistic about what was happening. The best part was how excited Jayson has been about all of it. He would get smiley and excited when the therapist would arrive and go right to his therapy chair and try and pull the tray on. It is clear he loves therapy. 

Today, Monday, when I got home from work I asked Jayson’s nurse how he did in therapy. She told me really well. She grabbed the new ipad with Proloquo2go and showed me there were several new icons added. WHAT?!! I was frustrated. I saw so much potential with this program and the therapists were going to ruin it by setting the bar too high and overwhelming Jayson!! We started with two icons and were going to work up to 4 after several weeks. And now there were NINE!!! And some were abstract?! What were they thinking?! And the nurse continued to explain that they wanted Jayson to be making complete sentences by combining different icons. And I needed to use this and reinforce this at home. NO WAY… I just put the ipad down and rolled my eyes. This was not going to work if they were going to try and push Jayson to progress faster than he is able. I know my son. We have done this before. He struggles so much with communication. I saw so much potential in him using this to communicate and I really didn’t want them to ruin this for him. 

We said goodbye to our nurse and Jayson went to his therapy chair, looked at me and signed Please. He wanted to work. I was holding the baby and trying to get her to sleep. I told him, “No Jayson, it’s not time for therapy right now. You already had therapy and they will come back tomorrow.” He got up and started to open his chest full of therapy toys. Little stinker. I got up and told him he knows he can only play with those toys during therapy. I could see that he was going for his Letter Bus toy. It is clearly still the “toy of the day”. I sat and thought for a minute, and decided to put it all to the test. I was going to see if this whole ipad communication thing is really working as well as they are claiming it is. 

I grabbed the ipad and walked over the Jayson and said, “What do you want Jay?” Without hesitation Jayson touched, “More…. Letter Bus.” WHAT?!?! He made a sentence. He touched two icons. He told me exactly what I knew he wanted. My jaw dropped and tears filled my eyes. “What did you say, Jay? What do you want?” He touched, “More… Letter Bus.” Holy. Freaking. Crap. I started bawling. No, sobbing. No, ugly crying. My son just told me exactly what he wanted using a full sentence for the very first time. 

Clearly, I gave him the Letter Bus. If I had a million Letter Buses, he’d have them all. I just sat there in disbelief wondering if I truly witnessed what I just thought I did. Still slightly skeptical, I took away his Letter Bus and asked him what he wanted. He touched, “A letter please.” He wanted a letter for the Letter Bus I had just collected. I gave him one. He touched it again. I gave him another. He played with both of them for a minute then realized that he wanted the bus. “More… Letter Bus.” I handed it over to him while shaking my head in disbelief. I had another good cry and said a prayer of gratitude while Jayson played with the toy he worked so hard for. After 5-10 minutes, I recognized I had allowed him to play with it for too long. It’s his therapy toy. He always has to work for it, and if he plays with it for too long it will lose its novelty. And it’s harder for him to give it up. He threw a fit. He was so mad I took away his beloved toy!! He went to his therapy chair in attempt to show he wanted it. I brought the ipad to him, but he was still mad. He was fussing and grumbling and refusing to make eye contact. I told him, “You can have it again Jayson. Just touch “More…. Letter Bus.” He angrily tapped, “NO.” I stood completely flabbergasted. Did my son just say no???? Did he just tell me no???? I said, “Touch More… Letter Bus.” He tapped again, “NO.” and pushed me away. OH MY GOSH!!!!!!!!!!!!!!!!! MY SON JUST TOLD ME NO!!!!!!!!!!!!!! I said, “Jayson, Mommy says it’s okay, don’t be mad, you can have your toy. You just need to use your ipad to tell Mommy More… Letter Bus.” He looked my direction with a scowl and tapped, “NO! NO! NO!” I started laughing and crying at the same time! My son and I were getting into our very first fight. I had no idea it would feel so good!!!!! He then tapped, “I need a break.” His nurse told me that when he did that earlier during therapy it meant everyone had to leave him alone for a period of time. I truly did not believe that he would tell me that at such an appropriate time. The “I need a break” icon was just above the “A letter please” icon. So I said, “Jayson, I think you meant A letter please.” And he got up and went and sat on his beanbag, his safe place where he likes to be alone. He truly meant it. He needed a break because he was mad at his mommy for making him work!!! 

I needed a break too. I needed alone time too. I was so overcome with emotion I could not even handle it. I have not cried this hard in a very long time, and this time it was nothing but tears of joy and gratitude. My son was communicating. He was telling me his wants and his needs and his emotions. And this was after only FOUR DAYS of using this program and working with his new therapist. FOUR DAYS. I called his therapy supervisor to share tears of joy with her. She informed me that he had mastered the six month goals she had written for him in this area in just FOUR DAYS. 

I can’t wait to see what he might accomplish in just another FOUR… 

Jayson repeated this miracle for his daddy when he got home from work. He said yes and no to different foods at dinner time. And he showed off his skills one more time while Mommy captured a video, which ended in him telling me he was tired. More like, very very tired. 

I am on cloud nine. I feel like I’m living a dream I never want to wake up from. My son is killing it. He is crushing every obstacle. He is dominating and not letting anything stand in his way! There is literally no stopping him and no telling what he will do next. There are no limits! 

Every parent loves celebrating those amazing firsts such as a child’s first word. Those milestones feel incredible! They have been milestones I have missed out on. But I can say today with certainty that I haven’t missed out on anything. There is absolutely no way that anything can compare with the joy I feel today. Jayson’s journey has changed me. My perspective and entire world is different. By knowing heartbreak, it has allowed me to find divine happiness through very small and simple things many take for granted. Today I feel like the gates of heaven have opened and given me a glimpse of what joy lies in store for us when we are reunited with the angels of heaven. How do I know what that heavenly joy feels like? Because one of God’s most precious angels lives in my home and teaches me incredible lessons every day. Today he taught me never to doubt and there is no need to mourn what might never be. Because with Jayson, anything is possible… in God’s time.

Rare Disease Day

Five years ago, I had no idea that the last day of February was dedicated to raise awareness for Rare Diseases across the United States and world.  

I had no idea what qualified a disease as rare

or how common having a rare disease actually is

I didn't know that children with rare diseases had to fight to have a childhood

And I was under the impression that if a person was sick, doctors could help and there was a treatment.  I didn't know so many people lived undiagnosed and that so many conditions didn't have a treatment or a cure.

Five years ago I was caring for an oxygen dependent, medically fragile infant with failure to thrive in between two of our longest and scariest hospital stays, just days before I revived him for the first time.  Five years ago I thought my baby had a bad cold that he would grow out of.  I thought his "syndromic features" were just my perfect baby's unique features.  5 years ago, I was in denial. I didn't know of this rare disease world, and I certainly didn't want to belong.

Three years ago we came to know what Rare Disease Day was for the first time
My beautiful boy's face was painted by a world famous artist and shared with the world in the Beyond the Diagnosis Exhibit sponsored by the Rare Disease United Foundation.  It's hard to put into words what this meant to our family.  In fact, it requires its own blog post called Leaving His Mark.  It was through this experience that we realized that the rare community was a family, one to which we belonged.  We embraced it dearly since we didn't have a diagnosis.  The Rare community was where we felt we belonged.  Here they loved my unique boy and celebrated him.  They saw beyond his medical diagnoses, tubes, medicines, and disabilities.  They saw Jayson.  Rare Disease Day came to mean something to our family.

Two years ago I fully celebrated Rare Disease Day for the first time.
My son, family and I had come a long way.  We had gone from mourning to accepting to understanding a long list of complex medical conditions our son had been diagnosed with.  We were more familiar with living a rare, complex and undiagnosed life than anyone could ever want to be.  We knew what it was like to search, research, and pray for answers that never seemed to come.  We had contemplated what the statistic 30% of children with a genetic disease would not live to see their 5th birthday meant, and we had enough experiences to know our son very well may be a part of that 30%.  We had just been told in a recent genetics appointment that getting a diagnosis was highly unlikely and not worth searching for anymore.  Our insurance company crushed our last hope for answers by declining our request for them to cover Whole Exome Sequencing.  Our words seemed to fall on deaf ears when we proclaimed time and time again that a diagnosis WOULD in fact change EVERYTHING.  We had just lived through one of our most challenging experiences that proved that fact.  Our biggest fear as parents living in the world of the undiagnosed was that we would miss something critical that would significantly impact Jayson's health or life.  Unfortunately, that fear had become a reality just months before Rare Disease Day.  Jayson was found to have multiple suture craniosynostosis, a condition he was born with, and it had gone untreated for nearly three years which resulted in long-term intracranial pressure, and even signs of brain damage.  It required that he had an emergency, highly invasive surgery that afterwards required us as his parents to hold him down twice a day to turn two rods sticking out of his head to expand his skull for about 5 weeks.

Two years ago I attended Rare Disease Day events alone while my husband cared for our son who had just had his distractor rods removed from his head.  His internal hardware had broken through the skin and was exposed, and he was being treated for a superficial infection; at least, we hoped it was still superficial.  Two years ago I attended the first Utah Rare Symposium with tears in my eyes because I was fearful to leave Jayson for the day with him being in such pain.  I felt exhausted, defeated, hopeless, frustrated and alone.  I prayed for some inspiration.  I prayed for something to be said to spark my passion for answers once again, to remind me that even though all the odds were against us, there was still hope.  I prayed for me to meet some new friends who could lift me up in one of my darkest, loneliest hours.  Fortunately, all of my prayers were answered at the Utah Rare Symposium that day.

 

It was during this Utah Rare Symposium that everything changed.  It was a huge turning point in our journey.  I met people just like me, raising and caring for children who had syndromes without a name.  I met moms who had older children who had just been diagnosed, and they were some of the first and only in the world.  I heard speeches from families who had been where I've been, felt what I felt, and persevered.  They got answers when everyone said they wouldn't.  They started foundations.  They raised money.  They found other families.  They were trying to find a cure.  They were my people.  I met doctors and geneticists who took the time to answer some of my questions and tell me to keep fighting.  And I met GeneDx, the laboratory that would later run my son's Whole Exome Sequencing just a few months later.

Two years ago, Rare Disease Day came to mean something great to me.  It wasn't something to mourn.  It was something to celebrate and look forward to.  It was a almost a holiday to celebrate in my crazy, medically complex world.  It was an annual occasion to get together with other rare families, doctors, geneticists, researchers, and laboratories to fill my cup, refuel, be inspired and gain focus and direction.

Last year, Rare Disease Day was better than ever!  
I volunteered and participated as an Executive Committee member of Utah Rare!  I was interviewed by a newspaper and an article was written about my family.  We shared our story with others when just a year ago I didn't think we'd have much of a story to tell.  I knew celebrating Rare Disease Day had officially become a tradition for our rare family.

And at the end of the Utah Rare Symposium, Jayson and I made a wish and sent it up to the sky with a balloon.

Our wish was heard.

And here we are in 2017, in the middle of celebrating our third Rare Disease Day!
It's hard to put into words the excitement I have felt this week celebrating my special, rare boy and our rare friends.  I continue to volunteer with Utah Rare on the Executive Committee, and this year I was asked to speak at the state Capitol event as well as at our upcoming symposium.  I am sharing our story with even more people.  It takes me out of my comfort zone and exposes my deepest fears and insecurities, yet empowers me at the same time.  We are moving forward and not looking back.

Those previous years I feared we would never be where we are now.  We are literally living the rare disease dream.  In the past few months, we have learned that Jayson's Whole Exome Sequencing results mean something.  We discovered there were others with Jayson's MN1 mutation.  We received notification that other geneticists and researchers were interested in studying Jayson's mutation.  We heard the other children shared similar characteristics and conditions with Jayson.  We were asked to sign and give permission for a publication to be written which to claim MN1 was a disease causing mutation and learned Jayson was one of SIX children in the world with this gene mutation.   And this week as I researched MN1, I saw it had officially been categorized as "Likely Pathogenic" from "A Variant of Unknown Significance".  So much has happened in such a short time, and we can hardly wait to see where we are during next year's Rare Disease Day!

While it may be weird to say that we CELEBRATE Rare Disease Day, we really do.  We have come so far.  Jayson has come so far.  Genetics and research have come so far.  There is a lot to celebrate.  And most days of the year people look at our son with sorrow and sympathy, feeling badly for all he can't do due to his genetic disease.  But during Rare Disease Day and the week of festivities we celebrate his uniqueness, his milestones, and even his mutated genes.  It makes him one of a kind.  It makes him special.  It makes him Jayson.  And while I would do anything to make his body healthy and pain free, I love absolutely everything about my silly, quirky, not-so-typical boy and I love feeling free to celebrate his uniqueness this time of year with others who are doing the same.

Over the past 5 years, Rare Disease Day has come to mean something significant to our family.
Thank you to those who celebrate with us and help us spread awareness.
Not only do these Rare Disease events lift our spirits in our difficult journey, but we hope our efforts to share our story and spread awareness help bless the lives of other rare families just as our rare family with Utah Rare, Rare and Undiagnosed Network, and Rare Disease United Foundation has done for us.

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!