Monday, September 10, 2012

The First Post.

Linzer, Party of Five.  A name borne of excitement and hope - it's how I announced my pregnancy with Quinn on Facebook, to all the 374 friends with whom I was thrilled to share our news.  Play on words, of course (the original announcement was accompanied by a line from the tv show's theme song, attached to a picture of Quinn's 9week sonogram).  
 
And now, it's time.  I have had this blog on my mind for a couple of weeks now.  And it's already written... until I sit down to write it, that is.  It's almost as though I'm 'coming clean' about something, but that's not it at all.  Writing it down just makes it all so very real, and that is the last thing I want this to be.

But it is.

And so... Quinn Madeleine Linzer, our amazing, wonderful baby girl has Niemann-Pick Disease, Type A.

What's that?!  Yeah - kind of our question too.  

Niemann-Pick Disease Type A (NPA) is an extremely rare genetic neurodegenerative disease.  The science of it is that Quinn currently produces less than 1% (0.5% to be precise) of the enzyme acid sphingomyelinase (ASM) required to metabolize a lipid (fat) called sphingomyelin.  This lipid accumulates within her cells, eventually causing cell death and malfunction of the major organ systems (mainly liver, spleen, lungs and the brain).

The reality of it is that NPA leads to an early death, anywhere from 15months to 3+ years. And before she is gone, she will be taken from us by way of severe developmental retardation and regression.

There is no treatment and there is no cure.

NPA is an extremely rare disease (autosomal recessive) - one that affects 1 in 250,000 children, though in this case the likelihood was more like 1 in 1M or more because I had been screened for this very disease and it came back negative.  So there's at least one mutation at play here.  That is, a mutation of the mutant gene.  Kind of unbelievable - we still can't quite grasp it.

There is a brochure put out by the National Niemann-Pick Foundation (NNPDF) that puts it very succinctly: 
"They only have their childhood to live a lifetime."

And that's what we're going to do.  Give Quinn a lifetime, as best we can.

Party of Five we will forever remain, even if only in spirit.

 

20 comments:

  1. I am so sorry for what you and your family are going through. I will pray for you and your sweet, beautiful little Quinn. God bless you and your family.

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  2. So strong to start this xoxoxo-Amanda

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  3. Oh Eileen, I am in tears for you and Quinn. You have been so amazing through this ordeal. Please let me know if there is ANYTHING I can do. xoxo Erica

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  4. You and Brett are amazing people and parents and will give her the very best that she deserves! In my thoughts and prayers daily!

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  5. Eileen,
    You and your beautiful family are in my prayers. Thank you for sharing this difficult experience. I am sure it is very hard to do. I admire your strength. Quinn is a beautiful girl and is lucky to have you and Brett as parents and the boys as brothers! She has a lot of love in her life! I am wishing you all the best in this difficult journey. I look forward to meeting the little lady!

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  6. My heart breaks for you and your family and yet I am amazed by your strength throughout this ordeal. I hope this blog is in some way cathartic for you and I think it's an wonderful thing you are doing to honor Quinn. My prayers go out to you and your whole family.

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  7. Hoping you draw strength from writing this, and find all the resources and other families who have walked in your shoes. Your NPD family will always be here for you.

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  8. Praying for you Eileen - and asking many others to do so as well.

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  9. I can't begin to imagine what you and Brett are going though. I am amazed by your bravery and conviction, Quinn is a lucky little girl to have you as parents. We will keep you and your family in our prayers and PLEASE call if you need anything, we are just across town.
    Sue and Pat O'Brien

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  10. Dear Linzer 5,
    I cannot find the words to express my feelings and my admiration and respect for your courage and strength. Only know that I keep you all in my heart.

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  11. You both are amazing. The strength you "show" on the "outside". You are making a decision that is difficult for all of you. I cannot imagine this nightmare you are going through, and yet you find the silver lining in making every moment of Quinn's special for you, for us, but most importantly for Princess Quinn. And she is a Princess. May you find the strength that you need to support you through this horrific ordeal from all your loving family and friends who stand right next to you. You both have the ultimate of parental devotion to have come to this decision in such a courageous, most ultimate, loving way.

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  12. Oh Eileen, it is through tears that I offer you my awe of your strength and perspective. What amazing parents you are to set such beautiful goals for sweet Quinn. My heart goes out to you, your "Soul Sister", and your entire family.

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  13. I don't personally know you, but know we are praying for your sweet family and amazing Quinny as you face this journey together.

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  14. The strength and fortitude y'all have is truly amazing. I know you have no choice but you march forward with such a passion and love. I truly admire you and wish there was something we could do to help in ANY way. Say the word, and we'll be there! Kisses and hugs all around.
    We'll see you Sunday!

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  15. Your story has brought me and I'm sure many other people you don't know to tears. Your family is an inspiration. What a wonderful life you and your husband are giving your children. God bless you all!

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  16. Stumble across your blog on accident and have had a broken heart for all of you from the beginning. I know you will all make the best of life for Quinn while she is here with your. My prayers and love go out to your whole family. You definitley have a Beautiful family with all the love you all deserve.

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  17. I read this with tears streaming down my face. I am so sorry for your loss but a am grateful for the time you get to spend with your precious little girl who is so beautiful. I'm not sure if you are bible reader but it gives such a wonderful hope of a resurrection in perfect health into a paradise earth where all have the ability to live forever as God originally planned for us. After losing many loved ones of my own this is what brings me comfort and most importantly hope. Your family is most assuredly in my thoughts and prayers.

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  18. Dear Eileen,

    I have a baby and he is one year old and I can understand you very well what your baby is meaning for you. Your sweety pie will be in my prayers

    May god be with all of you

    Love and regards from Istanbul Turkey

    Necla

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  19. İ am from Turkey and i have tears now. I will pray for your beautiful baby...

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