Amber Bucket List - Mitochondrial Disease

https://www.facebook.com/AmberJungjohannBucketList


My friend Amber has mitochondrial disease.

A mitochondrion (single mitochondria)

What is mitochondrial disease?  Mitochondra are the batteries of every cell of your body, except your red blood cells.  That means that basically every single function you do whether you notice them or not are reliant on your mitochondria.  It's all of the mitochondria's jobs to take the energy you give it from your food, and turn it into energy on whats called electric transport chain.  Now imagine if those "batteries" are running low, only have half or a third batter life in some areas of your body, 75% in others, or almost nothing in still another area.  You might imagine you just have to work harder, to make up for what areas are lacking.  While that is true that people with "mito" do have to make 10x the effort to get 1/2 the result, there isn't much to be done about parts of the body affected by mito that are involuntary functions such as the gut.

mtDNA

The mitochondrion house many copies of your mitochondrial DNA (mtDNA), up to several hundred per "organelle".  Usually mito disease is caused by a genetic defect either in your mtDNA or your nuclear DNA (nDNA).  There is sometimes no gene found, just because our DNA is SO complex! in that case all the doctors know is the mitochodria are not working right.  Remember how mitochondria is in every cell of the body, except the red blood cells?  Well since somebody with mitochondrial disease can have these defective mitochondria in any area of their body essentially, that means a lot can go wrong.  The gut can stop working properly, resulting in dysmotility or total gut failure (meaning the stomach and intestines don't contract right, and/or absorb food.)  The heart can stop beating in the right rhythms, heart failure can occur.  Any one of the nervous systems can malfunction-it's incredibly common for mito patients to have dysautonomia or even autonomic failure (meaning the autonomic nervous system malfunctions/fails.  the ANS controls body temp, BP, HR, and so much more).  Eye problems, hearing loss, joint and bone disorders and autism are all seen.  Sometimes, two patients with the same type of mito look different.  People with mito suffer from extreme fatigue and usually require the use of adaptive equipment  such as wheelchairs, walkers, and braces to help the person or child walk through weakness/low tone, and many other problems.  


Prognosis varies: some live fairly normal life spans others don't make it past their first year-an angering truth.  It is important for you to know that more will die of a mitochondrial disease than cancer.  A baby is born every 30 MINUTES that will develop a mitochondrial disease by the age of TEN.  There is no cure, not even any medication, to be given.  There is however an often very effective supplementation treatment called the mito cocktail.  Things like Coenzyme Q10, Creatine, Carnitine, Arginine, B Vitamins, can improve quality of life and help reduce symptoms.  Otherwise the course of action is to treat the other diseases and syndromes the overlying mito creates.


https://www.facebook.com/AmberJungjohannBucketList
There is the link to Amber's Bucket List again, if you can help you'd be helping out a really special young woman!  Every little bit helps.  Today Amber said "There are good people in this world."  I have to agree, so many have stepped up, many prayers have been raised.  Mito wreaks havoc, and distraction is a great way to keep spirits up when dealing with such a monstrous disease.


Love, Milly

Sometimes, it feels like things will never be the same or never get better.  When you're in that moment, it's easy to feel that way!  But when I look back at some seriously bad situations I was in, with seemingly nobody to pull me out of them, I'm amazed at how it always worked out.  I serve a God who loves to work in miraculous ways-and He often uses people in our lives to help us.  While I've experienced plenty of big, "obvious" miracles over the past twenty years of my life, the ones we deem small, or every-day, are just as exciting if we notice them and find them exciting.  Because I see those as moment-to-moment reminders that He cares for us!

1 Peter 5:7 “Give all your worries and cares to God, for he cares about you.”

It's so easy to get caught up in the moment, but forgetting the lessons and experiences from our lives is such a waste, I sure know I don't want to have gone through them for nothing!  

Everything always seems to come together, and work out better in the end, when I just wait on the Lord and let Him take charge.  Even if I’m impatient, He still makes things amazing and I’m sitting here going, WOW You are SO GOOD and there I went again doubting that!  After all, Romans 5:8 “But God demonstrates His own love toward us, in that while we were still sinners, Christ died for us.”  With that, how could I ever doubt how much He cares for me and wants to make things work out just so? 

So I always do my best, and with His help generally can, give my worries up and lay them down.  I don’t use it as often as I should but I created a box for one specific big worry I had. It was a scary time, and a legitimate fear, but no matter how big the fear He is bigger.  I got the idea from a friend and spun off her idea and name, I can’t even remember what that was now, but I called it my “GITGB” for Give it to God Box ;) It’s good for writing down things I’m freaking about as a visual & physical representation that I’m handing it over and not going to worry about it any more, because like it says in Matthew His yoke is easy and His burden is light. (pretty amazing considering He bore the cross)

So next time you have a big worry, go to Him with it—because if you want my advice or opinion, all I can say is it’s the only way I’ve found to get rid of my fears and worries.  And it’s not something I have down pat, but something I have to work at every day (and may forget for days at a time!)

Have a wonderful rest of your weekend everyone!

Milly

What's Important

Every day, I see people getting upset about the little things.  Often, it's myself!
I think so often every day, "life is too short to stress over the little stuff, just let it go!"
I see the road rage, or hear a sad story on the news, and wonder where the priorities in this world are.  Everything is always about the bottom line or how to get ahead.  It's hard to get everyone's attention, it usually has to be a big life changing thing in their personal life to do that.  All I can do is remind myself and maybe a few people around me when the time is right--and hope that my friends will do the same for ME when I lose sight of it.  


I love to just sit and people watch, or take in the breeze and some good scenery.  Or sit and have a good talk with a friend!  This time of the year is my favorite, or rather this kind of weather.  It's just the right kind of warm and doesn't aggravate my POTS, and has an exciting feel in the air, because we've all forgotten what it felt like to go outside in short sleeves, or not to be freezing half to death without 3 layers and fuzzy boots.  (Unless you're one of those lucky warm weather year round people. In that case, don't talk to me, I'm so jealous!) 


No matter what you are doing, don't lose sight of what is important in life.  Every week it seems like I hear another little one has lost his or her battle to mitochondrial disease, or see a little smiling face enduring so much.  and I know I have so little to be complaining about.  There is so much I want to do! 


This song by mercyme pretty much sums it up for me!  


I can be there for you when it can't get much harder
I can cover your head when life starts to rain
I can hold on tight when you feel like you're falling
I can bread crumb the path when you've lost your way
I can make you laugh when the whole world is crying
I can build you up when you're broken in shame
But if all that we do is absent of Jesus, then this so called love is completely in vain...


In Him, 
Milly

Hold on

When I was about 10, I decided I wanted to be a gymnast.  Note, I was a tall, leggy, and very uncoordinated girl despite my enthusiasm.  But this didn't deter me, and I felt I was destined to be a great gymnast.  It makes me laugh to even think of it now.  My best friend, and neighbors, thought that if they got photos of me doing all the gymnastic tumbles I knew how to do already we'd be sure to convince my parents to get me into a gym.  the result was some hysterical prints thanks to Cassie's poor photography as a 13 year old, bless our hearts!  All she caught was my knobby knees and dirty bare feet in less than graceful positions as I tried to do somersaults and who knows what else.  The majority of what I accomplished was making myself really dizzy (for I had POTS even back then, without knowing it), and getting a very fair response from my parents that I was already taking piano and gymnastics was incredibly expensive.

Treasure and I

I quickly realized I was too tall and just not going to make it as a gymnast, and enjoyed swinging like a monkey from the treetops instead.  So I continued on with my love of horses-something I'd been passionate about for years.  All my parents heard for the next year was riding lessons, riding lessons, riding lessons in earnest, I was not about to give up this dream!  I'll never forget the moment my mother caved!  I think I leapt ten feet.  We found the perfect barn.  I remember I was wearing jean overall shorts with flowers on the bib, and we walked around, finding the mare that was to teach me the basics leaning over the gate of the indoor arena.  Her name was maddie, and she was looking longingly in at her her horse soulmate who's name is Treasure.  Treas had just had a baby, Time.  Time is now my best friend's horse and is the kindest gelding you will ever meet.  Maddie has since passed on but I will never forget that sweet, goofy mare!  Meeting my trainer a small, talented rider with so much to teach me was exciting and I couldn't wait to start.  I still learn so much from her, I call her up and even though I'm stuck in bed or in a chair, I cling to the phone and drink in every bit like I did when I was a little wet eared newbie.  We bought my first pair of boots and I wore them every minute til that first lesson.  The longest week of my life!

Jumping 2'9" with Apryl in the ring: ever the enthusiastic jumper!

Mom drove me faithfully for so many years.  This was back in 2002 when I started, we went every Thursday, and it was summer.  I can still smell the dust and the sweet hay wherever I am. the barn is far from fancy, but the horses well trained and honest and I learned horsemanship, equitation, and so much more.  When I ran out of paid lessons each year, Cheryl let me work for them.  Even when my help wasn't as full as when I was younger due to my progressing illness, she took it and continued to teach me.  How to guide her own mare, Apryl, through a maze of jumps and how to ride low level dressage so we went from jump to jump we would be as one, bending around the curves and balancing.  Eventually, Apryl took me flying through the woods and over solid fences on the cross country course outside of the ring.  And no matter how sick I felt as the years went on, she made me feel so free.  Even now!  I treasure every minute with that stubborn, feisty red mare.  She has her own problems, a bad shoulder and back, splints.  But she always works so hard for you, always wants to keep jumping, I've never ever asked her to jump something, and she said "no, I'm afraid, I can't".  On a very rare occasion she'd say no I don't want too, but those I can count on one hand!  She just always went, her heart was always over the jumps.  She taught me so much, and I was one of the few that loved her and would put up with her.  She loves to spin and bolt, but can also be a dream.  Oh the fun we had!

Her watching me groom her legs

Now, she's a little older and steadier, and perhaps wiser.  I rode her for the first time in two years, outside of sitting still on her once, and she oh so carefully jogged when I asked her too, walking the rest of the time like I was made of glass.  A big difference from the usual big steps and exuberant trot I was used too!  It was almost like she was asking me questions the entire time.  When I'd go visit her after a hospital stay, just dying for a horse hug after too much stuffy hospital air, her eyes always follow me, even bending her neck around if I would go into her "blind spots" behind her.  There is nothing more special than a bond with an animal, especially such a large, powerful one!

Jumping cross country

At a show about 5 or 6 years ago

Riding for the first time in two years!

I rode bareback and in a halter so she'd be in a relaxed frame of mind

I'm so grateful for my childhood, and those teen years I was able to still do what I wanted despite some limitations and pain.  The barn was my escape, filled with people who understood me.  Nobody can ever take your memories away from you!  Hold onto those good times, remember them when things are hard, and don't ever give up hope that you can't get a piece of it again.  My Kindred Spirit Francine says, she'll always find a way to get me on a horse (even if she has to hold me up in front of her, as she has done before and I know will again<3)  There are always ways to get around limitations.  Never ever give up!  http://www.thenegufoundation.org/  It probably won't be exactly like it was before, but so long as you can let go of that and enjoy what it is now, you can find so many blessings in life you may not have seen before.

Hello there

I just wanted to drop in, since I haven't blogged in awhile!  I've been struggling a bit, had a fever for 24 hours this week, last week I developed some episodic neurological symptoms, and am overall weakened and struggling on top of the usual struggle to do basic things.  Walking a few feet is really difficult- something I was beginning to take for granted, and I'm having to lay down and rest the entire day, when it felt like I pretty much already was before!

Every day we have to make a choice to not let a bad circumstance tear down our will, because even though my head might be screaming 'why' my heart will always shout 'Holy' to my God, it just will and I can't help it!  So since I know Who is in charge, I might as well keep trying my best.  I cannot control what is going on, none of us can.  Anything can happen in this life even to those who have everything going their way.  It's so important to make that choice, and if you have to keep making it over and over in a single day, a single hour, than do it.  Choose to be positive, choose to keep your chin up.  And you also have the choice to not do it alone.

And thanks to the amazing group of people I have in my life, always there for me when I call out for help!

Loopy

Having a multi-system illness means varying symptoms, that often come and go without warning.  I think some are always harder than others, more frustrating or not as easy to deal with.  Everyone handles each symptoms differently.  It's so important to find ways to cope with them.  If something bothers you let it out, if there is something upsetting you, tell somebody or write it down or have a good cry.  You can't deal with an upsetting part of your illness if you're not facing it.


For myself, I hate when I get confused, aphasia (trouble speaking), and well we just call it "loopy".  An altered state of mind is frustrating for me, because I cope by thinking things through and communicating/talking things out.  This week I went through a long spell of these symptoms but I found myself able to cope in other ways, and to be honest I'm not really sure how to explain what I did I just know it worked out.  Those around me were so gracious as I stuttered and even fell silent, staring off into space. They worked to understand my needs and didn't treat me poorly.  I think that's a good 'step one' for ANYBODY: surround yourself with good seed, supportive people.  And don't let a bad seed bring you down!


As far as related thoughts medically, I've come to some conclusions over the years:
-Seek out physicians that you really like and click with.  It's okay to interview for a good  match for you!  Their priorities need to match your priorities.  If they are not listening, it's time to move on.  If you can't trust the person who is making important decisions about your health, then how can you trust their decisions?  Once you have trust in a doctor who is actively trying to improve your condition, and listening to what you are saying over their own pride, then you really do have a shot at improving your quality of life.  And there are so many amazing physicians like that out there!  It's not ALWAYS about seeing the "best in the business" for a particular problem, sometimes it's just about finding who is going to work with you.


I cope way better when I'm not stressed, and doing the aforementioned takes away unneeded worry.  Another thing I do from time to time is go visit a counselor I found through my Pastor a few years ago.  I had to see somebody before I could go to an inpatient PT/OT center as an insurance requirement, and ended up really clicking with her!  I find that talking things out to an unbiased 3rd party who can empower me through encouragement and sound ideas is invaluable.  In between, my friends, family, Heavenly Father and journal really get an earful!  Life is worth it, and just because it seems incredibly difficult doesn't mean it can't be good, amazing even.  I can try to inspire you with cheery feel-good quotes, but until you feel in your heart that you have something and Someone to live for, it won't mean anything. 


Zephaniah 3:17 

The LORD your God is with you, he is mighty to save. He will take great delight in you, he will quiet you with his love, he will rejoice over you with singing.

Quotes

I've always really loved quotes, and one of my favorites is "Courage doesn't always roar; sometimes it is the quiet voice at the end of the day, saying, 'I will try again tomorrow'."

Last December I was waiting to hear if my insurance was going to continue to deny a very important transfer to my rehab hospital.  I was paralyzed on my left side, (my right leg was also pretty involved) unable to stand, but managed to get myself around the hospital with my right arm, reaching back and forth from the right wheel the the left, IV pole tucked between my footrests.  I can do almost everything with just my left hand!  My favorite doctor was fighting hard to get me transferred and as I anxiously waited the child life specialists (who were dear friends after multiple stays at the hopsital) and I came up with a distraction: scrap booking.  The subject, quotes.  The aforementioned one is front and center!  The back page was for autographs and quotes from friends and staff.  I can see it resting on my shelf, and it makes me smile.  Sometimes, you just need to think about something else!  It's so hard to wait, and be patient, as it is.  My doctor did win the appeals and I was moved about 2 weeks later.

Here are all the Quotes (and one verse) in my scrapbook
"Life is not measured by the number of breaths we take....but by the moments that take our breath away"
"Music is the way feelings sound"
"Count it pure joy when the world comes crashing//hold your head up and keep on dancing" -MercyMe
"I believe in Christianity as I believe the Sun as Risen, not only because I see it, but because I see everything by it"
"Life isn't about waiting for the storm to pass, its about learning to dance in the rain"
"Every night I turn my worries over to God...He's going to be up all night anyway!"
"Look at the birds of the air...they do not reap or sow...yet your Heavenly Father feeds them...are you not worth more than they?" -Matthew 6:26
"I need the essential joy of being with horses"
"There are no challenges only opportunities"
"Life holds a flavor the protected will never know" -my friend FM
"Shoot for the moon-even if you miss you'll land among the stars"
"We have no right to ask when sorrows come 'why did this happen to me' unless we ask the same question for every moment of happiness that comes our way"
"Finish each day and be done with it, you have done what you could"
"Wherever you go, go with all your heart" -Confucius
"Maybe tonight, maybe tomorrow we'll win this fight and trade in this sorrow//so we live strong"
"Nobody can make you feel inferior without your consent"-Eleanor Roosevelt
"Our greatest glory is not in never falling, but in rising every time we fall"
"Cry it out, write it down, then take a deep breath and leave it there.  Mourn it when you feel the need.  This is the first step to finding peace." -Me
"Accept life's challenges and face them, and then you will experience exhilaration"
"You never know how strong you are until your only choice is to be strong"
"You never realize that Jesus is all you need until Jesus is all you have" -Corrie Ten Boom
"A smooth sea does not make a skilled mariner"

Corrie ten Boom said that in reference to spending time in a concentration camp for hiding Jews from Nazi's, trying to send them to the very place she was imprisoned.  Now that's faith!  I think sometimes quotes have a lot more behind them, if you take the time to research the back story, though usually the application is meaningful enough!

I still go to my rehab hospital 3x a week, I've been going there off and on for over two years.  Today I had to say goodbye to the aide who has been a part of my care and improvement, mostly over the last year.  You never forget people like that!

-M