Excuse me, what did you say? Pt. 1

 

My goal is to blog every day this week in honor of Mitochondrial Awareness Week. Given that I have obvious challenges with posting on a regular basis, we will see how it goes. It isn't that I don't typically have things to say. I always have something to say, especially about topics that are important to me such as this one. It is just finding the time, as well as the courage and strength to commit my thoughts to written form often stands in my way. It's hard putting yourself on paper. It makes things far more real and raw than when they swirl around in your head.

Mitochondrial Disease Awareness Week may not be a big deal to you. After all, it seems like it is always awareness week for something. There are ribbons of every color to represent all types of conditions. This condition, Mitochondrial Disease is a HUGE deal to me. It has affected my life deeply. It has allowed me to grow in ways I didn't know I needed to, and frankly didn't want to. It has permeated my family's life in every way. It has battled for my daughter and some days, I think it really is winning. And I think, if it is winning, then what all is my kid losing?

"Excuse me, what did you say? She has what? Did you say mitochondria? Wait, I remember something about that...was it in biology? It's in the cell, right? Wow, I should have paid closer attention in that class. This is way, way, way over my head."

Since that day, it has become abundantly clear, that I am not alone in my ignorance on this topic. It appears that Mitochondrial Disease is something even very few physicians are well versed in. This reality makes obtaining a diagnosis and necessary treatment beyond difficult. As the parents of a "Mito kid", we had no choice but to become "experts" in this condition, and often find ourselves educating the EMT/Paramedics, nurses, and physicians that are called on to treat our daughter. Ignorance is rampant, knowledge and awareness are vital.  So, today let's just start with some facts.
 

 What are Mitochondria?

• Mitochondria are tiny organelles found in almost every cell in the body.
• They are known as the "powerhouse of the cell."
• They are responsible for creating more than 90% of cellular energy.
• They are necessary in the body to sustain life and support growth.
• Mitochondria combine oxygen from the air we breathe with calories from food to produce energy.
• Mitochondrial failure causes cell injury that leads to cell death. When multiple organ cells die there is organ failure.

What is Mitochondrial Disease?

• Mitochondrial disease is a chronic, genetic disorder that occurs when the mitochondria of the cell fails to produce enough energy for cell or organ function.
• Mitochondrial disease presents very differently from individual to individual.

What are the Symptoms of Mitochondrial Disease?

The severity of mitochondrial disease symptoms is different from person to person. The most common symptoms are:

• Poor Growth
• Loss of muscle coordination, muscle weakness
• Neurological problems, seizures
• Autism, autistic spectrum, autistic-like features
• Visual and/or hearing problems
• Developmental delays, learning disabilities
• Heart, liver or kidney disease
• Gastrointestinal disorders, severe constipation
• Diabetes
• Increased risk of infection
• Thyroid and/or adrenal dysfunction
• Autonomic dysfunction
• Neuropsychological changes characterized by confusion, disorientation and memory loss.

How is Mitochondrial Disease Treated?

• Treatment consists of vitamin therapy and conserving energy.
• The goal is to improve symptoms and slow progression of the disease.
• Conserve energy
• Pace activities
• Maintain an ambient environmental temperature
• Avoid exposure to illness
• Ensure adequate nutrition and hydration

How common are mitochondrial diseases?

• About one in 4,000 children in the United States will develop mitochondrial disease by the age of 10 years.
• One thousand to 4,000 children per year in the United Sates are born with a type of mitochondrial disease.

What are the Challenges of living with Mitochondrial Disease?

• Affects multiple organs, affects multiple family members, affects multiple generations.
• Lack of awareness and understanding of the disease
• Families are continuously forces to expend their very limited energy to explain their disease, advocate for themselves and fight for services.
• Mitochondrial disease is often an " invisible disease."
  • Good day - patients look fine and healthy. They have more energy and appear rested.
  • Bad day - - patients appear tired to significantly ill. They are obviously fatigued and/or have significant illness. Repeated "bad days"often lead to decompensation and patients have difficulty returning to baseline.
• Mitochondrial disease is unpredictable. Day to day, hour to hour patients can develop symptoms and their stability can be threatened.
• Difficulties establishing a diagnosis interfere with a patient's ability to obtain adequate recognition, medical care, adequate insurance coverage, healthcare supports and disability services.
• Lack of understanding of the disease and misinterpretation of symptoms can lead to misdiagnosis. Further progression of symptoms can occur if the symptoms are missed and opportunities for treatment and support are not recognized.
• An individual can become symptomatic at any time in life despite the fact that it is inherited.
• It is difficult to diagnose.

What is the Prognosis for Someone?

• The prognosis is variable. Some people live a normal life and are minimally affected, others can be severely compromised with the disease.
• It is completely individualized.
• The prognosis is unpredictable.

 There is no cure at this time.

 "About Mitochondrial Disease-MITO FAQ". Retrieved from www.mitoaction.org

Take a Breath....And Jump!

Tomorrow is the birth of a new school year for Kyle, Natalie, and myself.  Clothes and supplies have been purchased, and my classroom is ready for my students.  I should be excited and I am, but I am also struggling with feelings of extreme trepidation.  In the morning, we hand my daughter off to an amazing teacher, who is also one of my closest friends. We have amazing support from the school. It should be simple for me, but my daughter has not been in the care of anyone other than Mike and I for over a month. She also has had only a handful of "normal days". Tomorrow represents a “re-letting go”, with the full knowledge that I have zero idea of how it will go. It is well, not my favorite.

As many people know, Natalie has been diagnosed with a mitochondrial dysfunction. Her body’s energy requirement basically exceeds its energy production – often. The mitochondria in her cells are deficient so her body has to work much harder and is easily compromised. With this condition, she developed cyclic vomiting syndrome almost two years ago and went through a long process full of doctors, tests, and suffering prior to receiving her diagnosis and receiving appropriate care.

After seeing a specialist and getting on a great medical treatment plan, she had a much better year last year. Then came summer. This past July was truly a struggle for all of us. Natalie’s episodes came back with a vengeance. In addition to the fatigue and intense nausea and vomiting, her episodes also started to include debilitating migraines and shallow breathing. After a couple weeks of multiple episodes that we could get under control at home, she had what I refer to as “the mother of all episodes” on July 13^th. This episode was by far the worst she has had and resulted in a transport to the hospital via ambulance and a 9-day admission.  The weeks following were, well a mess, and brought feelings of complete helplessness, which, by the way, is the worst ever. She has lost a total of seven pounds, 3 of which were dropped after we got home from the hospital.

This new chapter we have entered with Natalie is due to the onset of puberty – oh joy. While we were in the hospital, Natalie’s specialist informed us that this is the “new norm” where things will be more unstable and trickier to manage over the next few years.  Her care has had to be escalated with us being even more diligent about her diet, sleep habits, heat intolerance and exposure to illness. It has involved additions to her “mito cocktail” as well as a new medicine that has had to be built up and increased slowly over the course of the month. It brought with it the realization that the doctors don’t really know for sure how things will go with her. Therefore, neither do we. In their words, no two cases are the same and predictions are difficult to make. There is much that is and will be “unknown”. What we do know is that with the escalation in care, her symptoms have become more stabilized and no significant episodes have occurred for a couple of weeks. We also know that she will have breakthrough episodes such as the one she had on the 13^th.  We just don’t know how often. When these episodes do occur, each will come with a 5-7 day hospital stay.

Over the last month, things have gotten much better, but still vary day to day.  Natalie appears to be on a weekly cycle, with Mondays and Tuesdays being more difficult than other days of the week. We JUST got to the place where we can write a protocol for someone to follow if she is in their care. We JUST hit the one-month mark on the medicine last Friday (as in 2 days ago).  We JUST got to the place where she could have “play dates” again here at the house. We JUST got to witness her eating three full meals in one day.  She JUST got to the place where she has had a handful of normal activity days, including one this weekend that wiped her out. So yeah, I am not going to lie. I am scared. I am tense. I am nauseous. I do not know how tomorrow will go, let alone this week, month, or school year.

In all of this, there is SO MUCH to be thankful for.  First and foremost, I must say that I am thankful every day for my faith in God. I honestly cannot imagine what this whole ordeal would be like without that.  When I calm my thoughts and still my mind, I hear the soft-spoken, yet strong words, that have brought me peace for many years, “I’ve got this AND I’ve got you”. 

With this, I am reminded to take it moment by moment, surrendering as I take each step.  It’s a bit like standing on the edge of a plank blindfolded. I have to take a breath and jump, knowing that even though I have no idea what lays in front of me, I am fully aware someone is there to catch me (and my baby girl).

In the words of my friend, her new 4th grade teacher,  "Let's Do This!".

The Beach

There is just something about the beach.

The sand between your toes.

The wind in your hair.

The beauty of God's creation stretched out before you...

It calms your spirit.

 It unleashes your joy.

It inspires you.

It empowers you.

It releases you from your inhibitions.

It sets you free.

Thank you God for this amazing gift that fuels the soul.

You are My Sunshine...

I find myself writing about my daughter quite often. She gives me all kinds of material daily, almost moment by moment. She is extroverted and animated, full of surprises, and always doing something to the fullest. She has always had significant health issues and has been unpredictable both in her actions and her illnesses. She (and her issues) have tested me and challenged me in ways that I never thought possible. She inspires me and makes me crazy all at the same time. Being her mother has resulted in constant reflection and growth on my part and I love every minute of it.

That being said, there is another amazing person I know. Those who really know him should consider themselves blessed. He is my son, Kyle, and he is going to be 13 tomorrow. Even writing that last sentence brings a tear to my eye. He and I have always had such a deep connection – he’s my KyKy, and he is growing up so fast!

It seems like just yesterday, I gave birth to my enormous son (22 ¾ inches long!) after 26 long, brutal hours of labor followed by an emergency C-section.  Now, he is a teenager and that is just insane to me.

From the time he was born, we could see that Kyle had what some would call a very “old soul”. He has always been an observant, deep thinker with an intelligence and wisdom that far surpasses mine. He also has always had an amazing heart and gentle spirit. He was the easiest baby in the world, except for the napping. Kyle was tall and always seemed older for his age. I can remember him asking, “What’s that?” nonstop at 10 months, and that inquisitive quality is one that he still very much possesses.  I also remember the shocked look on people’s faces when he would tell them, “That’s ridiculous” at age 2 with perfect annunciation. It used to crack me up. That was Kyle, articulate and confident.

 As a toddler, he was our little man. He rolled with me/us everywhere. He never had a “terrible twos”, which led us to the very inaccurate conclusion that we were incredible parents. Oh, did we learn a few years later how not the case that was! He would be so shy around everyone else, but at home sing “I Love Trash” from Sesame Street at the top of his lungs. He also loved it when I sang, "You are My Sunshine". When I sang it, I meant it. He is still my sunshine.

Kyle has always been an introvert, never wanting to be the center of attention. He would be so shy around everyone else, but at home sing “I Love Trash” from Sesame Street at the top of his lungs. I am pretty sure he cried every morning for the first 3 months of preschool. What can I say, he was/is a Mama’s boy!  I remember giving him his first Lego set right before he turned 4. I showed him how to do it once and then he pulled it apart and put it back together about a zillion times that same day all by himself. 9 years later, he still gets  excited if a new Lego set appears under the Christmas tree.

As the sibling of a child who has medical issues, Kyle      has had to “take a backseat” on many occasions. As his parents, we try to offset that as much as possible, but there is really only so much we can do. He has had to sacrifice activities, time with us, and more. And….he has never once complained. As I said before, his heart is amazing. He is the most patient and loving big brother. Recently we took a road trip to LA to take my daughter (who had a rough last year) to see her role model Bethany Hamilton as a surprise. Neither of the kids knew. The entire trip was for that reason and when we got to the church on Sunday where she would be speaking, the line was a mile long and it looked like we would have to wait for hours. I finally told Kyle why we were there and expected a complaint, an irritation that all this was for Natalie, or something similar. Instead, his face lit up with the brightest smile ever as he said, “Wow Mom! Are you serious? That is so awesome! She is going to be so stoked! I can’t believe you were able to pull this off!” What can I say, I love that kid. He is simply good people.

I really admire Kyle, both the person he is AND is becoming. He has a strong sense of what is right and wrong, and has such an amazing, forgiving heart. I have seen him grow so much over the last couple of years, going from the boy who didn’t want to say his favorite ice cream flavor on the first day of third grade, to regularly giving reports and sharing in class. He is finding his voice at school, becoming more than just a silent leader. He is still pretty shy, but if you take the time to get to know him, you will soon find out what an awesome kid/person he is. He remains one of the most authentic and loving people I know. He melts my heart and can brighten my day with a random hug. His giggle is one of my favorite sounds, and I love that every Valentine’s day he gets to be my date – and takes that role very seriously tending to my every need.  He is hilariously funny and can always make me laugh. I love that he still enjoys days out with just me and can be honest about when he wants to be with his pals. It is exciting to see him taking more risks and getting out of his comfort zone. He is becoming such a man, but still such a goofy boy.  I am beyond blessed to be his mom.

And even though he is now considerably taller than me, when I look at him, I still see my baby. I am pretty sure I always will.

I'll love you forever, I'll like you for always, as long as I'm living my baby you'll be.

Thankful

I cannot believe it has already been a year since last Thanksgiving. And what a year it has been...

This year, we said goodbye to my grandmother, a beautiful woman and integral part of our family. Her passing is something I am still working through, as I miss her every day. 

We also said goodbye to my sister and nephew as they moved back to Colorado.  They have been a huge part of our world since the boys were in Kindergarten, even living next door for the past few years. Those who know us, know that Mike and I love our nephew like our own. Watching that moving truck drive away brought a feeling of loss that cut so deep.

And then there were the events of last Thanksgiving, when life was just, well, turned upside down. As we drove to the ER with a very sick daughter Thanksgiving morning, we had no way of knowing that everything had changed for Natalie and our family in an instant. We had no idea that the next 6+ months would be a roller coaster, complete with countless doctor visits, lab tests, procedures, hospitalizations, and illness. Worse yet, we could not have predicted how much we would see our daughter fade away, and how hard we would be praying, wondering if we would ever really get her back. We watched her transform from a vibrant, spontaneous, fearless, and carefree extrovert into a fearful, quiet, overcautious, anxious, and very ill introvert. I felt as if I lost my child - she was there, but it was not her. It was as if she shell of her former self. And no one knew how to help her. Doctor after doctor, test after test, remedy after remedy - and no results. No change, no real hope provided by any of them - things just kept getting progressively worse. We heard everything from brain tumor, to leukemia, to autoimmune disorder to it’s all in her head, an anxiety issue. We heard doctor after doctor tell us that there was no condition with her combination of symptoms. We were unaware that we, as parents, would have to fight on her behalf to get her the care she needed, and defend her to those who would dismiss her condition as “in her head” or “over-dramatized”, due to ignorance. We would have never guessed that we would be the ones to “diagnose” her, bringing our findings to the doctors. We had no way of knowing that it would be a long process, taking almost a full year to get her to the place that could provide us with a formal diagnosis, treatment plan, and education about not only her, but genetic issues within our family. We had no idea how much we were going to realize all we take for granted every day as we began to celebrate all the little milestones that Natalie met on the road back to recovering her old self. 

We also had no clue how much we would learn through this, and how much we would actually gain from this whole experience and all that this last year entailed. When you are faced with challenges, you have a choice to make. Do you embrace the role of victim, view your circumstances as unjust and just give up or wallow? OR, do you meet the challenges “head on” with boldness, seeing them as an opportunity to learn and grow - knowing that God is with you in all things.

I cannot say that I never crumbled or had my victim moments. I had my meltdowns, my night spent sobbing on the bathroom floor when everything was crashing in. I was quite sure that night would end with me in a straight jacket, but thankfully, I made it out without restraints. But even though there were times of desperation, we knew that God was with us, and we just needed to take things step by step and “keep swimming”. 

So many amazing things came out of this year. I am thankful for the countless things I have learned and the growth I have seen in my whole family.  

Among many other things, I learned....

... that I take a lot for granted. I don’t appreciate the small miracles and blessings I have in my life each day. I am blessed to be able to get out of bed, go to work, have my kids go to school,  run to the store on a whim, go see a movie, and be able to take my family out as I please to do things. None of these are a given nor are they a right - they are blessings that can disappear at any time. 

...that there is something beautiful about not being able to say “yes” to making plans to do things and just having time together. I have a new found appreciation for being home with my family and spending time away from the busyness. It’s important for  our family to connect. I want to make sure our lives are balanced, with plenty of downtime together. I coined the phrase “I have ideas, not plans” during this whole ordeal because we really didn’t know what circumstances each day would bring. It was one of the most frustrating things for me to deal with - it was also one of the most freeing once I embraced it.

...that I need to correct some of what I have taught my kids about the almighty word, “NO”.  When I get a response of “Why?” to my parental “No”, I have tried to say “because I said so” as infrequently as possible, but it does slip out from time to time. I am even more convicted that I don’t want my kids to ever accept “because I said so” as a response. I also want them to know  that while “no means no” in most cases, there are exceptions. Throughout this last year, all we heard were forms of  “No” from doctors and insurance companies. Had we just accepted this, we would never be where we are today - Natalie would never have come so far. There is a time to accept “no” and then there is a time to challenge it. Teaching this to my kids is going to be a challenge because the black and white is now grey, but I am committed to it. “Because I said so” is never going to teach them anything. I want them to ask why. I want them to fight for understanding. I want them to stand up for themselves or others when it is appropriate. Even if the answer is still “no” in the end, I want them to know they did their part to stand up for what is right.

...that I need to remember that just because someone looks okay, doesn’t mean they are. People are walking around with physical or emotional conditions every day and may not show any outward signs. It is not my place to judge the significance of their situation. My job is to love and encourage them - the end.

...that being helpless is both the worst and best place to be. Helpless is how I felt in ALL circumstances for much of this year because that is what I was - helpless. I hated it. There was nothing I could do to save my grandmother, keep my nephew here, or fix my daughter’s health. Nothing except...rely on God. At the end of the day, that is all we had and really all we needed. Realizing that in the midst of everything turned the feelings of helplessness into peace within the storm, and allowed us to see God working in everything. When I look back on this year, God guided each and every step of the way. We ended up with the best doctors for Natalie, had amazing support, and found answers that many families wait years to uncover. I got to have wonderful times with my grandmother, including our last couple of hours together that were somehow perfectly carved out the day before she died. Mike and I got to see the power of “we” as we partnered through the chaos. God was ever present. Had I not been so helpless, I wonder would I have really noticed?

....that joy can be found in every journey. If there is one thing my family is good at, it is finding joy and laughter even in the midst of trials. As Miley Cyrus sings, life is what you make it. We choose to bring the fun to the “funk” of whatever comes our way and refuse to just wallow in the circumstance. I am thankful for every day we have had, pleasant and painful, this year. As a family, and individuals, we are all better for having taken this journey together.

La La La Los Angeles - Update on Nat

Well, our trip to LA to see the specialist at Children’ Hospital finally happened! It seems like it took forever to get here, but it was so worth the wait. 

Because we couldn’t have the trip be all about the hospital, we managed to get in a few fun things to. We took Natalie to the American Girl Store (her first time ever) and I am pretty sure angels were singing when we walked in the door. I am not sure who was more excited - Mike or Natalie. Needless to say, it was a good time. 

We also visited the happiest place on earth. Natalie has always loved Disneyland, rides, and anything fun! Because of her struggles with nausea and fatigue this year, she did not want to go this time. She was nervous about rides, way opposed to riding on any kind of shuttle, and just anxious about the whole experience. We had to convince her to go which is just kind of crazy to me. The doctor we went to see had already started a part of the treatment which we knew was working so we were pretty confident that she wouldn’t have an issue, but she was still apprehensive and understandably so. The day started out super shaky and we had to work hard to get her to go on her first ride. After that, her engine started to rev up and pretty soon she was good to go. We even made up a song to go with our rides that day, “I throw my hands up in the air each time, I don’t give into fear, I want to celebrate and live my life, my nausea won’t win” to the tune of good ol’ Dynamite by Taio Cruz. We couldn’t go on everything - had to avoid spinning rides and anything super loud (as her ears are still really sensitive) but we had a blast and even ended up getting her on CA Screamin’! This was a huge victory for her that took place at the very end of the day. Mike and I figured if it didn’t go well, it was okay because a full afternoon of fun had already been had. She was nervous, but did not give in to her fear. And....she LOVED it! We even went a second time. She announced loud and proud that if she could ride on CA Screamin’, she could do anything:). I am pretty sure I squirted tears at the sound of that.

On to the appointment... It was FANTASTIC! It was so nice to be somewhere where the doctors weren’t perplexed, skeptical, or condescending. It is hard for people to understand her condition and, at times, we have felt people (including doctors) thought we were being dramatic or overstating things. We have also had some who insinuated that Natalie was manipulating us, or that it was all an issue related to anxiety which we knew was not the case. We know our kid and have watched this all unfold since last Thanksgiving. It has been very hard to have to defend her as we sought care. 

That said, it was great to have the doctor, social worker, and genetic counselor understand what this experience is like and confirm all that we have seen and expressed to doctors. The doctor validated all that we have been experiencing and have observed with Natalie and confirmed her diagnosis of Cyclic Vomiting Syndrome from a genetic, diagnostic, and physical examination perspective. He said that it is something she has always had and her blood sugar issues and other previous odd illnesses/reactions to things were all symptoms of the larger root cause. Cyclic Vomiting Syndrome is related to a dysfunction in the mitochondria within the cells and is an inborn thing. He said that various things can trigger it and that the serious strep infection she had in November did just that. And then..it became much worse. 

Because it is genetic, she will have issues for the rest of her life and he said that her puberty years will be challenging because of the huge toll they take on your body from an energy perspective. Once she turns 16 or 17, things will level out and then we wait and see if things stay the same or transition into typical migraines or some other variation of the illness. 

The good news is that the treatment plan is super doable and primarily involves taking COQ10 (an enzyme that her body is deficient in), significant vitamin doses,specific diet content/frequency, good sleep, and one other possible medication depending on the results of some labs. With this, she should be able to be pretty much her old self most of the time. We will need to be very responsive to any fevers or illness, and we still have an ER trek in the event she starts vomiting so she needs to stay healthy!

Natalie is mostly excited that the doctor (and social worker) understood her body and what she goes through inside, had a plan, and said she could play soccer again (with some restrictions:).

Thanks to those of you who have stood by us on this journey, who love my kid(s), and who have been praying. The support has been amazing. We love you!

If you want to learn more about Cyclic Vomiting Syndrome...

General Info

http://digestive.niddk.nih.gov/ddiseases/pubs/cvs/

http://www.cvsaonline.org/

http://www.cvsa.org.uk/fleisherguide.html

Angel of Mine

We all have seasons of our lives that our challenging. The last five months have definitely been that. I am not sure when it all will pass, but I do remain thankful for the many blessings I have and have had. One of those blessings is my grandmother who is my most favorite person in the world. Her health issues are progessing rapidly and we are all working through all of the emotions that come with that. I was thinking about her today and sat down to write this song/poem. I actually wrote it to a melody, but if you know me at all, you know I am not the best singer. So on paper it shall be...I love you grandma. This is for you.

We all talk of angels
Guiding from above
Watching over all of us
Bringing God’s comfort, joy and love


Well, I know an angel
Right here on this earth
She’s blessed me every day of life
Since my very birth


She’s an angel watching over
Comfort for my soul
She’s light in the darkness
Her love, it makes me whole

She has always been there
In every single way
Sharing all her wisdom
Ensuring things will be okay

She showed me what it means to care
She taught me how to love
Always there to listen
And point me to God above

She’s a voice of reason in the storms
And strength when I am weak
She’s love abounding freely
A friend to all she meets

She’s filled my life with joy
Inspired me as I’ve grown
Given herself to all around her
She’s the best I’ve ever known


I know one day she’ll be gone
And my heart will fill with pain

But joy will come in the morning

Because one thing will never change

She’ll be an angel watching over me

She’ll be comfort for my soul

She’ll be my light in the darkness

Her love will make me whole