Friday, February 28, 2014

Ava turned 3 and thoughts about Rare Disease Day

February 24, 2014 marked Ava's third birthday.  I can hardly believe that our little girl is 3 years old. It seems like just yesterday that she looked like this:

Leaving the hospital

Mason and Ava on her first day home

Maddi and Ava - sisterly love
In typical third child fashion I did not get any good pictures of her small family birthday gathering.  So, this phone picture will have to do:

Ava getting ready for her cake
Ava has had quite an adventurous first 3 years.  She has opened eyes and captured hearts.  We love you, baby girl, and can't wait to see what this year brings.

Family beach trip in July 2013
Photo Credit:  Chad Button

Today, February 28th, is Rare Disease Day.  I don't often consider what Ava "has" to be a "disease", but rather more of a chromosome "change", because Ava does not have a named diagnosis other than a "partial trisomy of the 1q".  It may also be because the word "disease" scares me.  Statistics indicate that 30% of children with rare diseases will not live to celebrate their 5th birthday.  This is terrifying, heartbreaking, and too close to home.  We have no reason to believe that Ava would not celebrate her 5th birthday, but there are many children with rare diseases who may become or are part of that 30% statistic. As I wrap my brain around the enormity of rare disease I will be looking to National Organization for Rare Disorders (NORD) and other non-profits for guidance and education.  I want to be educated about as many rare diseases as possible so that I can best support the many families living with and through rare diseases.  For more information about Rare Disease Day visit

1 comment:

Carol Aubin Titran said...

I don't know if you remember me or not I worked with Bill at Lakeview High School. I thought Child Development in addition to other Life Management classes. I read your blog and my heart goes out to all of you. I find your attitude courageous. May God bless little Ava and your whole family. You will be in my prayers.