Validation: a diagnosis.

I've finally been diagnosed!
I have a genetic variant that is an orphan, which is so comical because so many jokingly said i was going to be a patient zero with some brand new disease. It's called DES p.ILE451MET. It's a myofibrillar myopathy, and it along with a second gene they found firs my unique pattern of symptoms. It can also cause dilated cardiomyopathy. Im pretty stuck in bed, and leaving the house is a non-option, so an echo hasn't been done since 2011, in the ICU with sepsis. 

The second gene is a connective tissue disease (COL11A1 p.GLY110ARG) which in me would cause marshalls or Stickler's II syndrome. It causedls Hypermobility, scoliosis esotropia, maybe my POTS is from that, and can also cause blindness (retina detachment), deafness, arthritis...

The DES variant is s what's causing my organs to go haywire, malfunctioning and even to fail. It is maternal. The main problem, description of the disease is a myofibrillar myopathy, second is scapulopereneal neurogenic syndrome kaeser type. The later causes weakness in all limbs.

Since it's maternal, my mom also has to watch out for dilated cardiomyopathy. Right now, her echo is OK and her EKG showed only a slight misfiring. There A 50% chance my sister has the gene, and if she does, 50% chance it's passed on. Same with me if I was going to have kids.

Email is on the sidebar, please write or comment if you know of somebody or you have a Desmin related myopathy! Especially interested in exact genes.  I've already met a few people and it's so exciting for me. Maybe one day this gene will have a name, a treatment, and a cure!!! 

I've been dealing with dropping blood sugars and hypotension, severe pain, and a lot of fatigue. Nothing new, but but not all recent issue either. It's been really hard year seeing things worsening not improving at any point, like a flare, thus realizing it seems to be progression. My PCP comes here, which is a huge help. We are waiting for an appointment with a hospice company who can give me nursing, palliative care, and much more. It will be a great help to my Dr and parents as sole caregivers as well as myself. They walked into Dr Gs office yesterday, or of the blue, the very day she was to see me. She told me she kept seriously tearing up, and knew it was God. We have been unable to find any program that fits my needs.

It's been a very sad week.  We lost my dear friend Danna. She decided to enter hospice none months ago, to stop TPN and quit fighting the massive infections she'd been battling for such a long time. Her body finally gave out and she stepped into the arms of our Lord. I already miss her so much and am so glad Renee was able to go and read both our eulogies. We have been a threesome since fall 2011. Please pray for her family and friends.  Her sister, parents, aunt... It's got to be absolutely horrific for them today.

My eulogy:

My name is amelia, and I met Danna in the Fall 2011. Renee, Danna, and immediately became a strong threesome, going through many of the same problems and disorders. Her bright spirit and ready humor to our situation was cheering and refreshing.  I was also so drawn to her strong relationship with Jesus, the most important thing in my life. She was very encouraging to me.

It's so hard to imagine that she is gone, that I will never receive another Cheery good morning! Text, asking how I was even when she was very sick and so close to going home to Heaven. she was more focused on others then ever these last nine months.

One of the biggest things she did was giving back to our home away from home on earth, the ronald McDonald house charities  which has inspired me to do more. The last few years the three of us have been working on bucket lists, and Danna spent the last months of her life trying to finish her list, helping others all she could. Don't worry my dear friend, we will finish and carry on your legacy.  I will try to be the kind of friend you were to everyone you met. You will continue to change the world, and never be forgotten.

I will miss you ever day, but am comforted Knowing you're with our Lord. I wonder what your seeing. How far have you run on your new legs? What new colors have you seen? What songs have you sung to Jesus, sitting in His lap?  I will wait in hope, knowing we will do all those things together one day in our Strong, new bodies. No more pain, no tears. I love you forever Danna, and will never forget you. See you soon.
 
Thanks for stopping by.

In His love,
Milly

A Time to Mourn

Time for some honesty!

Sometimes, I (make that everyone) need(s) to be mourn things that I've lost or missed out on due to my illness.  I never want to let myself become my disease, a victim, but in order to stay on top and positive the healthy steps in the grieving process are so important.

The last few days, graduation photos began appearing as they do every year at this time. But this was the year I was dreading.  It's four years after I limped across the stage with my high school class and watched them ride off into their proverbial sunsets as I struggled over the next year to finish my senior year classes. While grateful for the opportunity and acceptance to walk with them that warm June evening, it felt fake and depressing.  I rather hated it at the time.

And now, I kind of hate this too.  I'm so proud and happy for my friends, it's not that.  It's merely sadness and longing to be following the path I always envisioned. I was supposed to be packing for some far off country God called me to right now.  Celebrating my own achievement.  My degree should be behind me!  Instead all I have are 3 courses at the community college   Yes, I know for all i have going on that's not bad. I believe I can be a witness wherever I am. There's a dozen silver linings I could tell you about my situation; really amazing & beautiful ones. But sometimes it's OK to be sad about what has been lost. Just so long as you do not wallow in it. That you are certain to stand up and move forward, because otherwise you will never accomplish anything at all.

In Christ's love
Milly

Energy for Life Walkathon

It's amazing how an item on a list, an idea mentioned in passing, a challenge between friends, ended up bringing so much joy and  satisfaction floor my family and I. A minutes worth of conversation bore much encouragement. You see, I'm a coach in the non profit organization called I Run for Michael.  My buddy, a NP named Betsy, runs in my name. She does all types of interesting distance races in various states and laces like Epcot and posts photos and adds up each mile. When she saw one of my bucket list items was to walk (well, roll) for a cause important to me, she told me to find a local one and she'd come up for it. I learned there was going to be an UMDF Energy for Life walkathon a few months later, a few weeks ago now in April.  We signed up and began fundraising with a modest goal of a few hundred dollars, and hoping to get a few people to walk with us.

Immediately, people began to donate and sign up to walking with us.  My good friend and fellow POTSy took the helm and began organizing and ordered the t-shirts. Another booked a flight from Canada and had rubber bracelets made to sell to make more money for the UMDF.  I raised our donation goal as well as my private goal multiple times as it was smashed over and over. The final total was over $4,600!!  And we've only begin to sell the bracelets. (Email me at  tradingsorrows@gmail.com for info if interested). Altogether $60,000 was raised collectively. These walls are held all across the country to raise money for research and to support mito families in need. I'm so proud of everyone, and praising God for the blessing it was to be apart of it.

I am so honored by generosity and touched as 23 people including my family made the walk.  we had more but last minute issues kept them out of it, a big disappointment.  As dad began pushing me down and around the curved the path, I looked back up the hill to see all those people in our bright blue shirts carrying balloons and small posters of friends and other children lost to mitochondrial disease.  I stated crying harder, so very touched and also feeling sad mixed in with the joy of the moment as I thought of those kids, my friends that I missed so much.  I also cried for my friend Danna. Brave, kind Danna who has been constantly checking on me despite her short prognosis due to severe and imprenatrable infection. It seemed so unfair. But knowing we were doing something was empowering and learned the sing ever so slightly. To know that all those people had stepped into my world and took the time to fight mito with me, some without even knowing me personally, was overwhelmingly beautiful. Danna is at peace. She's living her life achieving all the things she possible could if her bucket list, spending countless hours with family, and reaching out constantly to her friends. She wants you to remember, don't take life for granted.

You see, I always feel like I'm jamming myself into the regular world. Like a key trying to turn the wrong lock. I never feel I belong, always out of place. I'm never strong or fast enough or saying the right things or doing the same steps. Not that I particularly feel unaccepted, it's just that my life is so different.  But that day so many of my friends walked with me in our broken world and it felt so, so good.

We did the balloon release with biodegradable balloons and I had the pleasure of meeting Corynna's parents. I didn't know this brave young lady personally but several of my friends were her friends. She used the same bipap equipment as me, and her mom said it hit her seeing me, I rejoined her off corynna so much. It was a wonderful thing to meet them and im so glad we got to do the release at the walk they attended. God knows all things, he orchestrates each detail! He knows what His children need. The idea came originally from one of the mom's of the kids we honored. She saw his name printed with thee dates of his life. She said it hurt seeing that, like it diminished and reduced him and his story. All that he was and went through just in black in whit e keys and numbers?  That really got me and it sparked the idea in my heart, a God given one.  Wyatt was her sons name. He also lived on bipap, but what defined him wasnt that. No, Wy was a superhero - SuperWy. He loved his family and vacations and wanted to be a roller coaster designer when he grew up . I wanted to share the stories and smiles of as many who loser their earthly lives to mito as possible.  Last year I list my good friend Melissa after she went into cardiac arrest from sepsis post surgery. She had a type if mito called MNGIE. Our symptoms were nearly identical and I was able to tell her about Jesus. She was searching for peace, I can only hope she found Him. His peace.  My mom carried Gavin's photo, a brave little guy who never got to grow up, who is free now from a body stacked with constant infections and more tubes than little boy. He had the best smile.

Maybe one day with the money you helped raise, I will be taking you about mito kids who all grew up and achieved their dreams.

I am finishing this very tired so please excuse any errors, it's been a long time coming and I just rally want to finally o
Post it!

Again, thanks to everyone.

Love
Amelia

Q&A

Greetings friends.
I finally am doing the Q&A post!  It's been in the works for weeks.  As always please excuse any typos or errors. As usual this is a product of insomnia.

Are you on bipap constantly, not just at night?
-anon

Yes, I am on bipap all of the time. I can always tolerate being off for seconds to minutes depending on the day. Sometimes, removing the mask for moments causes me to immediately start gasping and struggling for a breath. This happens almost solely during a flare, its usually not to hard for a few minutes if I'm quiet and still.  My daytime breathing is always better than night and I can usually handle being off few minutes to half an hour on average so long as I'm still and not talking, although certainly very uncomfortable.  Often my breathing becomes shallow with long pauses between breaths when I try to do things with no bipap. I get dizzy and disoriented.  My record off bipap is one hour, and that happened as I tried to push my limits.  When I'm lying down or especially sleeping I will sometimes wake up because I had an apnea. They are much less frequent now from what I can tell. I don't have that alarm set anymore to let me sleep better. 

(1) how old are you and (2) whether you've been symptomatic of mito your whole life or from what age did your issues arise? 

(OH and one more - is the wheelchair for you due to fatigue? how long have you had one?
-Momttorney

I'm in my early 20s. Symptoms from birth are esotropia, weak eye muscle that drifts out/crosses. As long as I can remember I've had POTS symptoms, mottling, subluxing joints, hypermobility. My sister has the latter as well and had severe pain growing up.  I had chronically twisted ankles and could replace any joint half asleep, the time it happened the most. Things progressed as I aged till I was constantly sick and in pain 11-13 years ago and totally disabled at 18, almost 5 years ago. I finally became  TPN dependent 2 years ago after battling it for a year.  Eighteen, about 5 years ago, is also when I first needed a wheelchair.  I'd been struggling awhile but a sudden progression made it impossible for me to ambulate myself.  As I'd collapse trying to walk from pain and absolute exhaustion and weakness. I've needed one for various reasons including ataxia and hemiplegia/hemiparesis.  Now it's mostly because I get tired vs just muscle weakness as my respiratory status makes everything a struggle.

what do you do with your j tube now that you are on TPN?
-Sarah

Going to give the long answer so it makes more sense. I received my jtube 2.5 years ago. I was on tpn a few times once just a short Time inpatient another several months before becoming dependent from what we thought was an overcome-able flare. I had been on NJs for 7months and my one nostril is swollen shut if I get the least but stuffy from the damage. Every time I swallowed u cried it hurt so bad, & an ulcer was developing. Dr. Gisela pulled it right away and started TPN, and tried to get me on oral food with a motility med before going ahead with a surgical option.  I was happy to try and when it failed we decided on the J in October.  I never did tolerate feeds well either. She found my small bowel makes no MMCs on it's own. We added octreotide a few months later in January. Tried gastric pacing. In may I was on tpn again due to weight loss etc. My J now is so so helpful. With my two motility meds I can sort of absorb meds for my bladder, POTS, complex migraines, and one of my pain meds. These meds are either not available IV or not safe for me to do IV.

I also frequently get asked what are the conditions I have. 

I have suspected Mito or some multi system genetic disorder.  This causes chronic respiratory failure, severe GP and intestinal dysmotility,   HMS (and all the issues that comes with it like esotropia, scoliosis/lordosis, subluxations, and more).  A main issue I have is dysautonomia (temperature instabilities) and hypovalemic postural orthostatic tachycardia syndrome.   A channelopathy or stroke like episodes has caused a lot of hemiplegia in the past, for long stretches plus short episodes. This supposed channelopathy responded to meds along with meds for complex migraines so it's hard to know as meds overlap.  CMs are an ongoing problem (confusion, ataxia, and aphasia at their worse. Thankfully fairly controlled to just the first symptom being present & short episodes).  I also deal with Neurogenic bladder, anemia and chronic hypokalemia.

Thanks for reading and being apart of my quest to educate!
God bless,
Amelia

Participate in next post! Any questions?

Thanks to everyone who wrote already!  I'll be posting the entry answering questions over the weekend.  Again, the reason for this project is I prefer a sincere question over uncomfortable lengthy stares everywhere but my face, obviously checking out my differences. But what is different about each of us is what makes us special!

See you soon,
Milly

Comment or email to submit. I'd also love to hear your stories

And the floor is yours! Questions Welcome!

Help dear friends,

A question in my comments spurred me to reach or and ask you of there's anything you don't understand, are curious about, et cetera... Anything, please feel free. If I'm uncomfortable I just won't answer it with no hard feelings so please be open with any questions as I know by the blatant stares I get from strangers I am not like everyone else. Therefore, I don't want to be a mystery and a freak. I want to be understood and for everyone to be comfortable around me. I don't any things to be weird.

To start things off for those who know nothing about me and my awesome jewelry:

I have a suspected  mitochondrial disease, meaning it's our Best guess because it makes sense and I fit the bill. Many are never formally diagnosed because we have only found a small amount of the nuclear genes that can cause it.  The mtDNA genes seem to have been identified, that is passed from the mother only but nDNA defects are when both mom and dad are both carrying a bad gene and both pass it on. They may not be affected & only have that one gene (are just carriers). You can also spontaneously mutate a defective gene that's disease causing for mito.

Since the mitochondria power the body and turn food into energy, we rely in them for everything. When the Mitochondria orgenelles fail and cells die this causes organ systems to malfunction and even fail. No organ system is out of it's reach; all ages and race are at risk.

The question I was asked yesterday was if I am on my bipap all the time. I'm fortunate that I can manage a little time off of it, although I tend to gasp a lot unless I'm sitting still or of it for to long in any manner.

My FEV1 IS 38%, It dropped 14% in 2 weeks about a month ago when I had a sudden decline for no reason we can find.  I had been nearly off of my pain medicine and hasn't been sick. 18 months ago my MIP MEP (measuring strength) were around 20% which is also very low. We don't know what it is now, add it's not worth wearing me out more. My diagnosis is chronic respiratory failure, and I have the trilogy 200 and use my mask most of the time but the sip and puff feature is nice to give me a break here and there. I'm eligible for a trach based on my numbers and depending on which care provider you talk to I should get it to eliminate dead space, breath better, and eliminate the terrible air pain I get in my Belly from my poor motility. But I have decided against out for multiple reasons-the main one being since in not doing so fabulous anymore I don't want to merely put myself on life support, also of weakens lungs further and is become 100% dependent taking away mobility.

I ask that while questions are okay, please respect the decision. Than you so much!  The decision is not a light one, and more is in it than I've divulged.  thank you for understanding!!

The floor is now yours!

Comment or email tradingsorrows@gmail.com
Xoxo

Ups and Downs

My series if you will, of honesty with this disease, continues.  I know it is not as upbeat as past entries, but like I wrote at the beginning, I want and need to do some honest expression.  God is my rock and salvation, and in Him I find my strength.

There is a certain element of frustration and tension I find myself in more often than I'd like.  I'm always jerking my head or body off the end of a line or tube forgetting it's there and walking off. I'm always getting tangled up, twisting a foot in three while a fourth snares around my waist.  I'm all the time trying to reach something while my head is strained backwards, because that's as far as my bipap tubing will reach.  I was trying to clean my room last week at that awkward angle and felt like crying, as i was to tired to unhook it from the humidifier, find the connector to make it one long circuit, and drag the heavy vent off the table and across the room; let alone continue cleaning after all that fuss.  That day, I felt as though I had been utterly defeated because even the simplest of tasks were so beyond my ability.  Each day I try any such task, I failed.  No, that isn't true.  I merely cannot complete the task but am glad I tried.  I'm so grateful to my parents for their support and assistance in almost every facet of my life, around the clock.  Without their support and love, I may have given up a long time ago.

Doing a sterile dressing change on my central line is far less exhausting than changing my clothes and cleaning up a bit as the tangled mess that ensues simply trying to get clothes changed out around pumps and bags, all the while trying to keep a bipap piece in my mouth, is such a circus that I rarely bother.  Everything with mito takes extra effort, but that merely means that any completion is ten times as rewarding.

Having such simple human acts such as showering, changing your clothes every single day, and getting to go out and be in school as an almost 23 year old in what should be my senior year has brought a word to mind repeatedly as of late.  Dehumanizing.  I feel more machine than person many times as without them I wouldn't be here.  I'm grateful, and in the last few days I have found my joy again with some improvement in my energy, but overall these past few months my heart and mind have been very sad.  I finally decided I needed to do things to cheer myself up, but it had to wait till some energy came back into my bones.  I have started a blanket project for the hospital, and am looking forward to a www.UMDF.org energy for life walkathon!  If you have a child that was lost to mitochondrial disease, we are doing something to honor them at the walk.  Please contact me!

Sharing all of this is a bit embarrassing and difficult, and I'm tempted each time to just delete it and not bother.  But I deeply want to explain mito in a raw and honest way.  I want people to understand what this disease is beyond the textbook.  I'm not officially  diagnosed, but it has been my working clinical diagnosis for a few years.  I have met so many others exactly like myself, saying the same statements to each other as we explain our daily struggles.  Their stories need to be told as well.  I hope I can do it justice.  It feels impossible, but even if I tell a tenth of it I will feel better for having tried.   

With love,

Amelia

Night.

Nighttime.  It's usually my favorite time; from the moment I get up I'm aching for it to be bedtime again as the thought of facing the coming seven hours seems almost impossible.  But when insomnia or intense symptoms are overpowering me, it too feels torturous.  Everything aches.  I'm too sore to lie on my side because my shoulder keeps subluxing, but my back hurts so much when I sit up too long.  Lying on my back is often uncomfortable on other joints, and my lines and tubes tangle easily and feel cold against me instead of hanging off the side.  I hate the feel of them, even after all this time.

Insomnia is common in all my disorders, even my suspected diagnosis of mitochondrial disease.  Mito means my body cannot turn food into energy.  Ironic!  I'm unable to sleep and feel so unbelievable exhausted I could burst into tears.  Instead of doing that as it doesn't do any good, believe it or not, I try to distract myself.  There's always a friend also battling the night as well, or a good Gene Kelly musical to make me smile.

It's harder to ignore all the little things at night.  A sore nose from a rubbing bipap mask, curving spine letting off sharp pains with ribs and neck following suit.  Eyes even ache at this time of day.  It's weariness and pain and fatigue so strong that I feel it so keenly as though every cell has many pounds of sand weighing them down.  Breathing and thinking and being and thinking takes effort.  Sometimes, it gets to the point where I just pass out in and out and breathing gets so shallow and slow that it feels as though I might stop. Chronic respiratory failure is a scary and hard disease, and despite my AVAPS aiding my weak breaths 24/7 I struggle constantly

Something, Somebody, much more powerful is helping me lift my tired hands and inflate my weary lungs more than any machine.  Stronger than IV fluids or TPN giving me sustanance.  I know God is my ultimate provider and sustainer of life.  I know He is the One who decides my going out and coming in, my every day here on earth.  I'm ready and waiting for each decision He has for my life, because I trust Him implicitly.

I could never explain fully what this feels like, though as I said in my last post I really want to try.  More important to me though, is that you meet my Savior.

Love,
Milly

Sharing

Hello my friends.

For all these months, the years of having a constant urge to write had left me.  I haven't really been journaling or doing any logging like I had for so long.  Lately, it's been creeping back ever so slowly. I don't have the vivacious need to write, but I do feel a tug.  I know that not doing so will leave large holes in my story that I have for so long painstakingly archived, if not well at least in almost its entirety.

While I know I have no energy to do continue that, I at least would like to tell some daily stories that might be boring but will at least share the struggles and triumph of living with this disease.  The simplest of chores gave me the inclination.  I was trying to get myself put back together after a shower.  As always, it took an unreasonably long time, at least twenty minutes, to do what would take you 2 minutes or less.  My two IV fluid lines got caught up in my bipap machine at least 4 times, tangled up in me, tangled up in everything else it could find.  I kept tripping all over my bags and the vent till I wash shaking.  I have to get dressed and hooked up to things in the proper order or I'll be all tangled yet again.  By the time I'd finished I was so frustrated I was reminded why I only go through the process of a halfhearted shower once a week, something most do once on average without even thinking about the ease of it.  It's exhausting and I have to literally rest up to get it done.  Other chores take similar buildup in stamina in order to achieve, such as dressing changes or a simple trek down my stairs to sit with my family for an hour.  At the end of that time I'm exhausted and can't wait to go lie down in the silence and solitude of my room.

I try to keep my blog posts light and positive, and I always want it to be known how truly blessed I have been in my life.  But I feel the urge to share the reality of what not only I but all who share my diagnosis's go through, for when we share I'm constantly amazed by the unity in our stories and feelings. I want to share for them as well.

Because of my limited energy, please forgive any mistsakes.

Blessings,
Milly

"they go from strength to strength"

Well hello!

My surgery went off so smoothly that my surgeon could scarce believe it.  He still talks about it every time I see him!  We both give God the glory as each of my doctors were expecting at least a small amount of complications.  I'm grateful to the anesthesiology team for their skill in avoiding certain drugs (muscle relaxants etc) that would have weakened my respiratory system, but are most always used in general anesthesia when putting somebody on a ventilator.  My surgeon did a wonderful job as always and encountered no problems.  Also, GI was able to come in after and give me a G-tube which has proven to be invaluable in symptom control, as well as releasing air so I can use my biPAP.

My Bible's bookmark has seemingly been permanently set between the pages of Psalms, the 85th.  The last six months have been particularly challenging, but as always reading passages brings me comfort knowing the truth they contain.  I love John, James, and Psalms in particular.  (John 15 has been my 'read' this week on repeat!)  

I just wanted to share this with you: One of my favorite doctors made a note about going from "strength to strength" as an encouragement to me.  I found it in my favorite Psalm 85, which I found to be very ironic.

Vs 5-7: "Blessed is the man whose strength is in You whose heart is set on pilgrimage as they pass through the Valley of Baca.  They make it a spring; the rain also covers it with pools.  They go from strength to strength.  Each one appears before God in Zion."

I think it's such a beautiful thought.  Even when nothing is going right, and it feels like there is nothing to keep me going-nothing to distract me or give me any purpose-I can rest assured that His strength is enough to carry me.  Often though, I do have little things throughout the day that make me smile, little "strengths" as I now think of them that keep me going.  Whether it's a bit of time studying, a message from a friend, or a bit of Scripture.

I hope everyone has a beautiful week, and a blessed day.
Love, Milly

Psalms and Stars

I am so grateful for today!
Some days I am less inclined towards gratefulness, but as Psalm 118:24 states, "this is the day the Lord has made; let us rejoice and be glad in it."  I can't help but rejoice on the good days and I really do feel how good He is every day; but rejoicing doesn't come easy when things are frustrating, painful, and difficult.

But today was finally a better day.  And while last several weeks have been incredibly challenging physically, this describes everything to a 'T': Psalm 42:8 "By day the Lord directs His love, at night His song is with me, a prayer to the God of my life."  He continually upholds me.

I've really been enjoying messages from Louie Giglio.  "How Great is Our God" was exactly what I needed to hear this weekend!  If you get the chance, check it out.  Did you know that the biggest star in the known universe, could fit 378 quadrillion Earths?  Psalm 33:6 says, "by the Word of the Lord the Heavens were made; their starry hosts by the breath of His mouth."  Yeah, my mind was pretty blown too!  I loved all the beautiful photos of space that he posted along with the message, absolutely stunning.  The next day, I watched the one called "Indescribable" and was just as amazed and encouraged.

I'm so amazed that such a massive, star-breathing God (who as Psalm 147 says knows each one by name) would comfort me and bring me peace so constantly!

This is just cool, a beautiful expression of God's grace in all things, as Louie Giglio simply pointed out.
It's at the very center, in the black hole of a whirlpool Galaxy called "The Darling".  It's called the 'X structure'

Thanks Hubble!  If you want to see more of God's creation, browse around the site!  Absolutely beautiful.


-Milly



I know I'm not a terribly frequent blogger, but I am having surgery next Tuesday and may be absent for longer than usual.

One Word 365

Trust.

It was blatantly obvious, I didn't even pick it.  I just knew that's what it was.

I better back up, for those of you who don't know what One Word 365 is.
You pick a word that describes what you want to learn, work on, or embrace that year.  (At least that's how I envision it.)  Last year, I chose joy.

So much is uncertain for me right now.  I learned around Thanksgiving last year that my gallbladder needs to come out.  The rule for me is emergency surgeries only, since I tend to have a poor recover and backslide afterwards due to the drugs and narcotics.  There is some equipment I need to help with my breathing, and I am having a lot of new symptoms and developments.

So when this word challenge came around again in the New Year, I knew it was going to be a year of trust.  In past years, I had to learn to trust.  This year, I need exercise it without holding back because I am not strong enough to do this on my own.

Proverbs 3:5-6
Trust in the Lord with all your heart, and lean not on your own understanding.  In all your ways acknowledge Him, and He will make your paths straight.

This is the most imporant part of my One Word 365!  This verse is so special to me.  Psalm 139, as I'm sure I've quoted before, states that He knit me together and ordained my days before I was even born.  He isn't surprised by what is going on in my life!  It is a fallen world, and not how He'd like it to be.  He redeemed me, and has a place for all who receive His gift in eternity, but for now I'll do everything He calls me to do where I'm at.

I also have to trust those whom God has placed in my life.  I am finding it easy lately to trust that my physicians are making the best decisions for me, and accepting those decisions with peace.  There have been some weighty and difficult ones to make recently!  And as I go into surgery, there will be many decisions that my surgeon and anesthesiology team will have to make on the spot.  I need to have absolute trust in them that they are going to make all the right calls.  I've come to the conclusion long ago that it is out of my hands!  God is in control, not me.  I frequently forget this and try to micromanage everything, but He is always quick to gently remind me that He's "got it covered, relax".

When we let go, and trust, we are free to enjoy life.
Milly

The Best Christmas Ever.

Merry Christmas!

This time of year now brings back some unique and special memories for me.  My family and I remember Christmas 2010 as the best one we ever had.  You might imagine that we were all gathered together, eating lots of good food at a beautiful table before opening a pile of presents under our tree.  In actuality, we were crammed in my half of a hospital room in a pediatric rehabilitation hospital, the other half shared by one of the dearest friends I have ever been given in this life.  I'd already been in the hospital several weeks, and was now struggling to relearn how to stand, and then walk, after months of frequent severe stroke-like/hemiplegic episodes.

The day started with a strange "swooshing" sound.  I struggled to shake the black spots away, half dysautonomia and half sleep, as I sat up to see what was going on.  To my surprise, our nurse was dragging in huge boxes wrapped in bright paper, filled to the brim with wrapped presents.  I could hear excitement floating in through our open door, along with the light of the morning.

I said of mornings at that hospital:

"Days started the same, in a warm comforting pattern.  The voices of your night nurses faded if you were unfortunate enough to be up at seven......You smiled at your day nurse, all were your favorites, and she greeted you warmly and affectionately like you were her own daughter."

S and I eventually sat at the boxes after going up and down the hall to see our friends.  She plopped down on the floor while I looked on from my worn wheelchair.  We hardly knew where to start.  "You do one, and I'll do one!"  I remember finally saying.  There were at least thirty packages in each of our boxes, extravagant in my mind.  It wasn't the gifts that struck us, it was the fact that Child Life had figured out the interests and needs of each child in the hospital, and wrapped all of those gifts for each of us.  There were only a few of them, and they'd stayed up late Christmas Eve to finish, we'd seen them.  It was very touching.  We soon were back out in the hallway with all the other families, who were joined with our own.  It's a difficult thing, what we were all doing, but doing it together made it easier and I cannot tell you the number of amazing people I have met.

PS we got permission to take pictures for Christmas! 

My prayer quilt, each knot is a prayer. Made me cry!

I wheeled alongside another good friend, T.  I helped him tear open his bright packages, almost all football related! while we talked with the others.  I tear up just thinking of him, he became very much like a brother and I miss him very much.  Some people have such a strong spirit inside of them that they give you the fire you need to push on in times when you think you can't move another inch.

Soon my family arrived and we had a wonderful day together, just being.  We opened our Christmas presents and mom brought my stocking for me (I love tradition).  We played Scrabble and had a delicious meal in the cafeteria (they make amazing food, and go all out for the holidays.)  Feeling at home there, with such amazing people around us, was so special.  And we just spent the entire day together talking, laughing, and playing games.  We were immersed in each others company and the joy of the season, remembering how blessed we are and what a gift life is, eternal life from God and Jesus' birth.  That is what made it the best Christmas we've ever had.

My sister visited me often, as she lived nearby at the time.  New Years Eve she joined in the party with the families.  I was collapsed in bed early as usual.  So two other patients, my sisters, climbed into my bed with me for the ball drop and made enough noise for the three of us!!  What lovely memories.

Thanks to generosity and more stories that cause waterworks, I was able to stay past my insurance's deadline (my progress was to slow for them).  I did leave that hospital able to walk with a walker a functional distance due to my physical therapist's determination.  He came up with the idea to use isometric maneuvers called "hooking", which is what pilots experiencing G-forces exercise to stay conscious while flying.  It works by squeezing large muscles groups to prevent blood pooling.  It worked wonders for my dysautonomia, as did my doctors willingness to keep IV fluids going with peripheral IVs as I wouldn't get my first port for a few more months.  That wasn't their usual protocol.  My PT would also encourage me and tell me not to give up, to stay on my feet!  I would think of T, S, and all the others and I'd find it in me to keep going.  Praise God for the kindness of others, I'm forever grateful.

I can't believe it's been 2 years since I've seen so many special faces.  I still go to the same place for outpatient PT, and I have seen some people more recently.  One long distance family I just got to hug a few months ago upon their return!  Others, I stay in touch with, thanks to the amazing technology we have today!

I've treasured the past two Christmases even more because I HAVE been home.  My mom makes each year so special.  Although I do remember spending a few very sick, one Christmas Eve we spent trying to get to the ER in a blizzard, and I had a scheduled test the next day.  I was a bit grumpy that year! ;-) But Christmas has always been wonderful, even when I'm not well.  This year was no exception, even though I "crashed" for part of our time, it was an amazing Christmas.  Every year I say it was my favorite, and every year it's true!

finishing presents Christmas morning, our tradition
is to do them Christmas Eve, but I was going with my body's flow!

My sister, brother in law, and I Christmas Eve! :)

Thanksgiving in Struggles

What a crazy time right now!  As a wise and lovely mito friend worded it, it's hard to know when the train is going to stop, or how fast it's going to go.  You wish you can hit pause.

I returned to Milwaukee for clinics earlier in the month.  Right now I'm dealing with the harsh realities of progression; which is including worsening in my respiratory system, crashes, worsening of symptoms, and little energy.  We're trying to get equipment, including a biPAP covered at the moment.  Last week when 2 EMTs entered my home to take me to the hospital because I'd collapsed on the floor hours before, I coulI d hear one saying she remembered this or that.  She was one of the two who took me in the day I became dangerously septic.  I was able to get home later that night, using my wheelchair, as I needed my TPN on time (ish ;D) more than round the clock banana bags (dextrose/magnesium/multivitamin IV fluids) and nursing care.  I was doing better the next morning, but pushing it too hard too fast caught up to me the following day, and I began having a lot of weakness, ataxia, and complex migraines as we were headed into my PCPs. We love her, and her understanding and kindness made the situation easier as I tried to stutter out some answers for her.  The rest of the day was a comedy of errors, but aside from being quite wiped out the days to follow were rather uneventful health-wise.

Beth and I at the play

I was able to go to my first broadway show, something on my bucket list, this week!  That's two things crossed off in one month thanks to the kindness of friends and strangers.  My dear friend who took me to the play said I'm not allowed to check things off too fast, or need to add more items.  I have SO many things I want to do, it's going to take me ages!  We had an awesome time, and it was an incredible production.  I'm so thankful, such wonderful memories.  The other item I was able to cross off was fly a plane.  It was only for a few moments on my own, but it's something I've always dreamed of doing, and I got the opportunity when flying home with one of the Angel Flight pilots.  We have met so many amazing people, I can't imagine life without them.  But if I wasn't sick, life WOULD be without them.  And truly, that makes my heart drop.

copilot! I even got to pull up w/ him during takeoff, which felt so cool

I paid for the trip to Wisconsin and going to the play though, it takes so much energy just to speak, so I am pretty quiet most of the time.  It's hard to explain how it feels to be that tired, and I ask that those around me will have patience when I am silent.  I have so many words that I would like to say, but it is too difficult.  I have so many places I would like my feet to take me, but the ache with the strain of just standing.  So I will pick my battles, say the words that I can and walk in the area that I am able and be grateful that I can still do that, because as I do I often think about the many times when even that was impossible.  Especially as Christmas approaches, and the multiple hemiplegic episodes took away so much.  Although we all agree, that Christmas we spent in the hospital was the best one we ever had!

Happy Thanksgiving!
With love,
Milly

English

Greetings!  We're already a week into September, and I'm almost a month into my english class.  I find the format of online courses to be extremely conducive to my life.  I was not sure if I was going to be able to learn this way but I was surprised at how well I fell into a good program.  I even had a short hospital stay this past week and it didn't keep me from getting assignments in on time and continuing to work towards next deadlines.

My opthamologist is my hero; I was unable to sit and read prior to being put back into bifocals.  Now I can go through pages of text and feel like I'm actually absorbing material.  Now brain fog and complex migraines are my biggest enemies!  I've found the best way for me to get things done are to work ahead, even when I don't feel my best.  I can't wait for good conditions because they aren't going to come 95% of the time, instead I need to just try whenever I can and see what I can accomplish.  Chances are I'm going to surprise myself!  Next, I need to keep my instructor up to date on what is going on with me along with the disability counselor.  That way if something comes up unexpectedly she isn't caught of guard thinking I was doing wonderfully.  I also have a letter from my specialist saying I will probably need more time, and she has kindly told me this is fine.

I'm so enjoying the change of pace and having something to focus on.  I think I have said that multiple times already, but it is so incredible true.  I am glad I am only doing one class though, I don't want to feel frustrated or overwhelmed - just challenged.  The last thing I need is any added stress!  I really encourage anybody who is debating about starting classes to go for it, you never know if you won't have the opportunity to later.  Trying something new has very few downsides.

Summer 2012

Greetings friends.
I wish I could say that all is quiet on the front lines ;), but seems like it is one thing after the other.  I wasn't two words into this post before a pump started beeping at me!

I haven't had the heart to write as much as I was in past months, usually I use my journal a lot more.  A lot of my time goes to resting in between phone calls, my daily cares, and emailing my doctors and nurses.  I'm so grateful to my team!  Unfortunately no matter how much I rest, I don't feel like I'm making improvements, but am actually regressing right now.  I often return to my previous baseline and I am keeping the faith that this will be the case.  But it doesn't change the fact that it has been a challenging month, and it's natural for me to wonder.

On the positive side, I have started my first college class.  I have been feeling determined to test the waters since graduating high school and am delighted that I'm finally able to.  There was never going to be a particularly good time to start; I'm always going to have good and bad days, weeks, and months.  It did seem to be the right time though and I know God will walk me through it like He does everything else, from procedures to needle changes to tests.  

1 Corinthians 10:31 (NKJV) ^"Therefore, whether you eat or drink, or whatever you do, do all to the glory of God."

I had a bit of an adventure earlier in the month that was such a blessing to me, albeit probably part of the reason why I'm so wiped out now.  I was asked to speak at a church a dear friend of mine pastors - he is like a father to me.  So a former teacher and friend of mine drove us out so we could spend the weekend with him and his family, something we've wanted to do for ages.  It was an incredible blessing to see them and meet their church family, they are just so special!  Giving my testimony was a great experience and I'm so grateful.

I also milked a cow and bottled fed a calf.  Right up my alley.

  

Isn't that little guy cute?  I have loved getting to go out and do some fun things lately.  I'm hoping to get to go back to visit Francine soon, it's good to have things to look forward to and push myself even if in the long run it does contribute to me feeling worse.  I'm so glad that my specialists don't stop me from doing things I want to do despite that risk.

Well I need to go and prep my TPN!  Yum!

Goodnight,

M

Things We Don't Understand

I started this post awhile ago and never finished it, thought I would since it's something many spoonies go through and is an issue that has greatly impacted my life and either helped or hindered my care throughout the years.

I had my follow up with my new pulmonologist two or three weeks ago.  My pulmonary function tests (PFTs) show that my respiratory system has weakened.  We're assuming its from a progressive neuromuscular disease that my specialists have long believed is a mitochondrial disease based on many multi-system symptoms.  My blood gas gives more evidence in that direction, as I'm having metabolic acidosis.

I need a firm diagnosis to get a nocturnal noninvasive ventilator (NIV) so that my lungs can receive help at night, and I can breathe easier during the day.  My geneticist believes that to find MY diagnosis I need a muscle biopsy done, where they don't freeze the sample and blast it with energy to see how my mitochondria function, along with many other specialized testing that only one or so other labs/hospitals in the country do.  However my insurances have put me in a catch 22 as they either don't cover the billing codes for the specific muscle biopsy testing I need, or say its not medically necessary.  Again, without the diagnosis they won't approve the NIV/BiPAP, something my pulmonologist feels would improve my quality of life and support my weak lungs and diaphragm.  He stated that if I had a concrete diagnosis of mito (right now we're treating me on a clinical basis, with improvement), he could put in for a NIV without any more issues or testing, solely based on my PFTs.  Thankfully, I'm not in respiratory failure (though that would also get me a bipap, but is obviously not a diagnosis I would ever want!) and can go without the nighttime vent for right now, and if I get worse we'll repeat the blood gas, see where we are, possibly prove I need it.

But it is frustrating that I have to get worse before I can get what I need, as this is not the first time I have been in this position.  Insurers have a lot of authority to make really massive decisions, when they have not even laid eyes on me, spoken with me, or won't speak with my physicians because it isn't policy.  The doctor's who know me best, every detail about my care and conditions.

Thankfully, I know Who is in control and it isn't me or the insurance companies!
Colossians 3:15 And let the peace of God rule in your hearts, to which you were called in one body; and be thankful.
We are praying that a test called the nuclear mitome test through transgenomic will be covered (I just spoke with a very kind woman today from billing) and perhaps even find a diagnosis.  Nuclear Mitome Test explained

So while I don't understand, I'm just going to wait and see, and know God is in control.  I can't change anything about the world by worrying!  But that doesn't mean that I'm not allowed to feel frustrated about it at times!  And that's okay.
Luke 12:25 Who of you by worrying can add a single hour to his life?


-Milly

Freedom

It's easy to feel trapped and chained down with illness, disability, or whatever your earthly trouble may be.  However God really impressed on my heart the other day that while I may be very limited in my physical freedom nothing can take away the liberty that is in my mind, or especially my soul.  After all isn't the human heart one of the deepest wells in the world?  I can't drive a car, or live on my own, or run a marathon.  But I can do many other things using the brain He gave me, even if it's just dreaming when I'm too sick to do anything but lie still.

So never let anything keep you from feeling free, because there is more to independence than the physical.

Never be afraid to trust an unknown future to a known God.
-Corrie Ten Boom

Blessed!

I feel so incredibly, inexplicable, completely blessed.  Even on days like today, when I've had several hard ones in a row, I just can't forget how good God is because of how much He's given me in the past few weeks.

Be ready for as more photos than text ;-D

I had my clinics in Milwaukee June 5th, and to get there we were granted an Angel Flight.  Meeting the pilot and his wife was so incredible, and saying goodbye was emotional!  He also took the time to bring us home two days later, despite the fact that he is running a huge company.

Once we arrived at the airport Monday morning, it was a whirlwind of happy chattering that I cannot remember, and sights that I won’t forget.  A perfect blue sky, the warm sun glancing off the white wings of his perfectly clean plane.  The iridescent paint on the black engines, the tight weave of the carpeted steps leading into the plane, the feel of the leather on the hand rails.  The smiles on everyones' faces. 

We were also so fortunate as to get a room at the Ronald McDonald House of Eastern Wisconsin, this RMH is really beautiful, large, and always full!  But God definitely was ordaining every step.  The volunteers were so helpful, and supplied everything they could for me as well as showering us with gifts (as they do every guest that comes).  We spent the Monday afternoon sightseeing East Milwaukee, and around Lake Michigan.

Lake Michigan.  We'd just flown over it!

East Milwaukee

I was pretty sick that night after such a big day, not to mention past few weeks, but the next day was feeling okay and was so happy to get to spend time before and after my appointment with a friend whom I've known for years but never had the privilege of meeting!  She too has POTS.  It was really difficult to say goodbye, we talked for hours Tuesday night on a host of topics and the time slipped away from us entirely too quickly.  

Secret Garden, RMH

My clinics were very helpful and special.  I'm very happy with the plan they came up for me, and I feel that my quality of life is such a priority.  The ideas that they come up with are things I either hadn't thought of, or hadn't heard of in years (and had not been picked up by other physicians because, I suppose, they are unorthodox).  We also prayed together which was so touching, and just what I needed.

And now, here I am at home!  If I hadn't had such a massive 2 preceding weeks, it would have been as minimally taxing a trip halfway across the country as it could possibly of been on me.  Absolutely mind-blowing that we just hopped on a flight that was so selflessly offered to us, and 2 hours later we were with the doctor's I needed most in the country.  Which is well over half a day by car.  See what did I tell you?  Blessed!  Next trip to Milwaukee is to be in about four months from now, and as soon as my doctor's nurse (who is really wonderful), has dates for me \we will get set up with one and let Angel Flight know and hopefully they will be able to get us a second flight.  Receiving just the one was such a help, as flying commercial is not only expensive but it's difficult to go through security with everything, and then get it all packed on the plane and ensure it actually arrives with me.  Plus it'd be really terrible if my chair was damaged, especially to the point of no longer be able to use it.  Having to borrow a heavy hospital one immediately takes away my independence.  There's just so many things I could say about this organization that helped make me feel as though we could do this, that the doctor's I really need access to are right there, in essence! By the way, we flew directly over Toledo, OH where my well loved first dysautonomia specialist Blair Grubb practices.  We also went right by Cleveland and we could see University Circle-another place where I've received much help and will continue to for at least one more important multi-purpose surgery.

Have a wonderful Sunday everyone, and a safe week.

Milly