Thursday, March 5, 2015

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,


  1. Hey, it's Jen! I sent you a request in Instagram. I hope you know it's me! We need to catch up!

  2. I am so glad that you finally have a diagnosis, but I'm sorry that you have those diseases. I admire your perseverance and courage. I admire your heart and love for others. It has been a joy to follow you on Instagram and read your updates and encouragement for others.

    I'm sorry for the loss of your friend, Danna. I pray that the Lord will bring comfort and peace in this difficult time.

    Love and hugs to you. I will pray for you when you show up on my Instagram feed.

    Blessings and joy,

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