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This fundraiser ended on 02/23/12

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Raising money for genome sequencing to decode our daughter's unknown syndrome.

UPDATE: We are so extremely pleased to announce that we have met our fundraising goal!!!!!! We are so very grateful for all of the donations we received by check and online. We will continue to update everyone on Ellie's progress as we move forward with the test. Any further fundraising efforts will go in Ellie's Honor to SWAN (syndromes without a name) Non-Profit Organization to pay for another family to get this test!!! Now that we have been so blessed, it is my personal goal to make this a reality for another family. Thank you again for everyone's love and support!!! We are so blessed:)


On April 22, 2011 we received a huge blessing to our family. Elizabeth Mabel, “Ellie,” for short, had finally arrived. From day one, she has been the sweetest baby with an illuminating soul that will fill your heart with overwhelming love. With this gift has come extraordinary challenges that leave her family and doctors with several unanswered questions about her health and prognosis.

At 9 months of age, Ellie suffers from global developmental delays, hypotonia, microcephaly, delayed mylenation, esotropia, osteopenia and a failure to thrive. On her charts we have seen a steady decline in her rate of growth. She lives life “half alive” and interacts with her family the way a newborn would. She enjoys looking at lights and loves to be tickled.

Since week 1, she has been inundated with appointments and bloodwork from pediatricians, geneticists, neurologist, audiology, endocrinology, nutrition, opthamology, otolaryngology, plagiocephaly, physical therapy, occupational therapy, radiology, and the neuro-developmental program. None of which have been able to provide a diagnosis for this syndrome. Ellie has had the most current genetic tests available with the exception of one.

Our only chance for a diagnosis lies in genome sequencing. So far, this test has been able to provide multiple diagnoses for families who have waited years for answers. We don’t know what the future holds for our little angel and with humility set aside, we graciously ask for support from others to help fund this very expensive genetic test. We need to know what is causing this syndrome so we can give our daughter the best chance at a long and healthy life. We will NEVER give up looking for answers and are enormously grateful for everyone's love and support.

If you prefer, please mail check to
Brad Wright
3206 50th St Ct NW Suite 224
Gig Harbor, WA 98335

Below you will find a condensed version of our initial blog post, For the full story and up-to-date information on Ellie, please visit her blog at www.lovinglittleellie.blogspot.com

Ellie's Story

I often wonder about the exact moment when I knew something was different. Every time I thought something didn’t feel quite right, I always had some logical explanation to discount my feelings.

On the morning of April 22, 2011, I knew my daughter would arrive. I had tried everything my midwife had suggested and still had not shown any signs of giving birth. I was 42 weeks and running out of time for my planned homebirth. Was she taking so long because I was so scared to push her out or was something just not clicking? I kept thinking that I needed to trust my body but I could feel myself losing faith. Finally, labor started and things began to go smoothly. I surprised myself at how calm I remained during each contraction. One last big push and out came her head, neck, and body. In a matter of a minute I had given life and was holding this beautiful miracle in my arms, which I had waited so long for. As I held her in my arms, thankful the hard part was over, I was watching for my warm, soft, quiet little girl to take her first breath, but she didn’t. My midwife quickly and as calmly as possible grabbed my little baby and immediately started administering oxygen. I remember thinking that she never looked in distress, always calm and at ease. She just needed a little jump start. I don’t remember when I would look back at this as a sign of what was yet to come.

And then came April 28, 2011, the infamous day that changed our lives and a day I will never forget. It was a follow up with our midwife. The appointment started off like any other appointment we had had except something was different. There was quietness in the room; an unspoken sadness that was palpable. She leaned in and with hesitation, but uncomfortable courage, said, “I think there is something going on with Ellie chromosomally. I really don’t know what, but possibly Turners syndrome.” My heart felt like it had died. I could feel the adrenaline in my body beginning to rush as the outpour of tears like flood gates erupted. “NO! NO! NO!” pounded in my head faster and louder with every NO!. A big part of me wasn’t surprised to hear this, just horrified to face it. I wasn’t blind to the differences in my baby. I saw what she did, the small stature, the small set eyes, the hands, the ears, the difficulty nursing. I just had hoped and prayed this was a mistake. I just knew I had to leave as quickly as possible to have our opinions completely contradicted. Fortunately, within 24 hours we were able to be seen by a pediatric geneticist who ordered our first set of tests.

Finally, eighteen days later the test results for our first genetic test were negative. Our daughter was fine. I was so happy to get that phone call, yet there was a hesitation to my happiness. Now what? The signs were still there. My doctor suggested a second chromosomal test called a micro array and some x-rays. The x-rays showed the normal bone structure of an infant her age. The microarray test was a nightmare. Ellie might not be a great nurser but she is a good eater. Her adorable rollie pollie arms did not make it easy to draw blood. My poor baby, after six unsuccessful blood draw attempts, we were finally able to get blood for the next set of genetic testing, which also yielded a normal result. Even with more blood test, an MRI, metabolic and organic acids test we still didn't have a diagnosis. Just more clues that lead to more questionable syndromes and a vicious cycle of ideas that is a never ending emotional roller coaster. Getting a name, looking it up, crying, convincing ourselves that she does AND doesn't have it...waiting 2-8 weeks and hearing that everything is normal. With a name...that cycle stops. Not that things will miraculously get better, but we can move forward faster. No more blood tests and no more weekly doctors appointments. I am not scared to hear what they tell me. I already know something isn't the way it should be. I am more scared that they have nothing to tell me at all. I know this may be hard to understand but the truth is that not having a name doesn't make it any less real and having a name doesn't change if she has it or not.

I want to take her and run and hide. I want to push everyone away who doesn’t understand and yet I don’t want to feel so alone. I want to shelter her from the pain I know is imminent and the pain I haven’t even begun to know. The stares and comments. People feeling uncomfortable in her presence because she is different, no doubt due to their own insecurities and even mine as well. I love her and my family more than anything in the world. I would do anything for my family and it kills me inside to think I am helpless. I used to think about my daughters shopping together, getting married, having babies and families of their own. Now I pray for a smile or to hear an I love you mom. I have so many questions about her future and what she will comprehend.
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