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