Success of Rare Disease Day 2014

Well, little “Bruiser” has not made his big appearance yet.  He seems to be comfy cozy and given all that we have been going through the last couple of days, in some ways I am glad he is still snuggled up tight.  As anxious and excited as I am to see his sweet face, I have been enjoying these last few days as just the two of us.  That is such a special gift and this is such a special time.  My doctor was thinking of scheduling an induction for this Thursday (the 6th).  I have opted not to go that rout and just get an ultrasound to make sure he is doing okay.  Of course we will just play it by ear and do what is best for he baby, but the more “natural” the better.  I continue to pray he will come on his own when he is ready.

that is not a beach ball my friends

that is not a beach ball my friends

Last Friday, Rare Disease Day was an unbelievable world wide success.  Thank you for all who thought of Wylder and families like ours on this day.  Here are some of the incredible success stories from the day;

Wylder Nation Foundation


The Wylder Nation Foundation has officially finished the first Niemann Pick Type A Whole Genome Sequence as part of an initiative to gain a better understanding of the genetic pathways and potential therapeutic targets. HUGE success.  Steven was supposed to be at a conference in San Diego today, but awaiting the arrival of Bruiser changed his plans.  That does not change or impact the success of this mission.   TGen is currently using their bioinformatics systems and knowledge to sift through the 3 billion “letters” of data.  Uh-mazing.

Rare Disease Relay success by the AMAZING Running for Rare Disease team


Rare Disease making it’s mark in Washinton

 Niemann Pick Foundation Happenings for Rare Disease Day

NORD on Rare Disease Day

We love and miss you Wylder James.  You should have seen how the web had your sweet face all over it on Friday, you are so so loved, it is incredible.  Thank you for your love and strength these last few days.  We are so excited to meet your brother.  See you in our dreams. xoxo


  1. Cathy Johnson says:

    Wonderful success stories, Shannon, especially the genome sequencing. HUGE!!! :) And your Bruiser belly is sweetly astounding! Cannot wait to meet that darling boy! Much love! xoxoxo

    • Mommy and Daddy says:

      It really is HUGE Cathy~ Steven is making us all so proud with all he is doing and lining up to help so many kids. You are being kind about the round and beautiful belly (Tee hee) … HUGE!! ha ha. Well, I don’t think he can get to much bigger… xoxo

  2. hehe, your beach ball! It really did look like a beach ball!!! I am glad you are so patient! I know it soooo hard to wait for baby, especially after your due date-you are amazing! I woke up this morning and was about to get started on my day, when I ran to my computer to see if you had your little guy yet:) One day this week I will open up the computer and will see his little face:)
    Thank you for the update on Rare Disease day-amazing as always.
    xoxoxo ,Chelsea

    • I am sure trying, but patients is not my best thing (tee hee). Can’t wait to send you that sweet photo, hopefully soon. Hope you are feeling good, we think of you always. Xoox

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