Saturday, January 26, 2013

This..or..That

Mito has been on my mind every second, of every day since it was muttered to me in that doctors office one afternoon. I have consumed myself in complicated mito research, trying to understand the diseases and its many ugly faces. Learning, investing, and crying over little mito children and their story, their struggle, their victories, their journey. I couldn't relate to any one specific story though, because mito doesn't affect any two children the exact same way. Every one with mito is unique in their disease. So I spent my nights dreaming of how Areli would be affected. How will her disease progress? What ugly face of mito will I become accustom to? But every now and then I would make myself step back and remember, we aren't even diagnosed yet, it may not be mito. Breathe, and wait.

In the back of my mind I had hope the past 7 months would turn out to be a fluke of some sort and they would tell us her liver looked normal. That her enzymes went down and this would become just a weird unknown event and she would grow and live a normal little girls life... There is no way to describe the moment you are told your child has a disease. The moment the little bit of hope you had, dwindles away. A life time of obstacles, doctors, hospitals, unknowns flashes before your eyes.

Areli's biopsy results were in. Her liver is very fatty, which we knew, but most importantly her mitochondria is abnormal. They are doing more testing though, to get a definitive diagnosis. It is narrowed down to two possible diseases. Mitochondrial Disease ..or..Cholesteryl Ester Storage Disease This..or..That.

While Cholesteryl Ester Storage Disease (CESD) isn't mito, it isn't any more comforting. It is even more rare than mito, with even less research and knowledge. There isn't a cure for either. They both have unknown future/prognosis. Death is an all too common result of both diseases. They both scare the hell out of me. This..or..That.

I find friends and family asking me which we are 'rooting for', which is the less of two evils. Not that I can control or pick one (because frankly I wouldn't choose ANY) I have concluded at this point. I. Don't. Care. Either way my family's life has changed. Either way we have a battle to fight. Either way we have a BEAUTIFUL baby girl. Either way we will, SHE will survive. This..or..That.

This..or..That

This..or..That

 This..or..That

 It doesn't matter, THIS is what matters:
Love, Mama D
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5 comments:

  1. UnknownJanuary 26, 2013 at 9:46 PM

    Linnea, have the Doctor's mentioned liver transplant at all?

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    1. Areli Rose's DiseaseJanuary 27, 2013 at 2:33 PM

      They just said when her liver is sick enough we can discuss it. Right now her liver is functioning well, but once it starts to deteriorate we can start getting tested to see who is a match and whatnot. It is hard to say how fast her disease will progress so it's hard to say when she would need one. Plus it depends on what she is diagnosed with. I know some Mito conditions where transplants will not be successful. So we will see.

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  2. Brett B.January 27, 2013 at 9:41 AM

    My heart and prayers go out to Areli and your family. I was diagnosed with late onset Cholesterol Ester Storage Disease. I am the treasurer of a Patient Advocacy group at lalsolace.org. I would recommend checking out our website. There are others who have experienced similar emotions and have had similar questions. We have resources who may be able to answer some of your questions. I would also recommend checking out Synageva.com. Synageva BioPharma is a biopharmaceutical company dedicated to discovering, developing and delivering a treatment for Wolman's Disease/Cholesterol Ester Storage Disease. God Bless and feel free to contact me with any questions you may have.

    Brett B.

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    1. Areli Rose's DiseaseJanuary 27, 2013 at 2:30 PM

      Thank you SO much Brett! I checked out lalsolace and became a member. I am do happy to find a support group! It is frustrating there isn't more information on CESD so I am forever thankful your found me! I hope you are well and will probably contact you in the near future with questions.

      Linnea Dengah

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  3. MaryJanuary 29, 2013 at 4:12 PM

    Hi, I am the President/moderator of LALSolace. I wanted to write you through my personal blog. My son Gage had the infant onset Lysosomal Acid Lipase Deficiency (Wolman's Disease) I wanted to let you know that you are not alone, even though it seems like it. It took us four agonizing months of poking, prodding, biopsies, etc. to get our diagnosis. It is so very scary and frustrating. And As Brett said, we have other families that have had similar experiences. We also have a great medical advisory board that specialize in many different liver diseases. Now that you are a member of LALSolace, you can send me an email and I will try to connect you with our experts. When Gage was diagnosed, there was literally one paragraph on this disease with NO support available!!! I am working hard to change that. Let me know what I can do to help!!! Mary

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