Tuesday, November 15

I "heart" Tommy

Very early after Tommy's birth, we were approached by staff to participate in research studies at Seattle Children's in a voluntary effort to hopefully better understand and diagnose some of the medical struggles that Tommy endures.  You can type the word "research" into our blog's upper right hand search field and see what studies we are involved with.

We've never sought out research studies.  All are voluntary.  As Tommy's parents, we only ask that blood draws be collected with other normally scheduled blood draws so he has no additional pain or discomfort.

Tommy can't say if he wants to be involved with this research, but after talking to family and friends and prayers, we felt that Tommy would want other kids with Down syndrome to have better medical procedures and science behind care.

So recently we were recontacted by a study for AV Canal defects.  The Genetic Association Study for Copy Number Variation and Endocardial Cushion Defects.  The researchs at Seattle Children's want to learn more about the genetic cause of the AV Canal defect.  They want to find why some children are born with this heart problem.  It might be a genetic factor.  No research has yet asked and answered this question for Endocardial Cushion Defect.

We believe God made Tommy perfectly.  That part is easy for us to understand.  We can look at any of our kids and see God's work at hand in each of them as a gift. 

So, it's hard to describe, but we also believe God wants the doctors to have their best talent and knowledge to care for his medical needs.  We wouldn't change Down syndrome.  But we would want to help alleviate the pain from Hirschsprung's Disease, open heart surgery and the ongoing immune deficiency of Polysaccaride Antibody Deficiency. 

For this specific AV Canal defect study, Colin and I both gave saliva samples years ago.  And Tommy had given saliva also, but this time they needed to collect a blood sample which would be permanently stored for data.  They sent a 'kit' blood draw to our Pediatrician and we went to one of the very few kit blood draw labs in our county.  This blood draw was coordinated with an annual blood draw that our Pediatrician also wanted to recheck thyroid and cbc, etc. 

The kit was then driven by us to the airport and given to those nice Fedex folks to fly back to Children's.  Tommy is one of 300 people with Down syndrome or a heart defect or in Tommy's case both, in the study!  We hope this study is successful in it's goals and produces new knowledge in this heart defect.

Friday, November 4

Buddy Walk 2011

Thank you to our family and friends for supporting another year of Down syndrome Outreach and the Buddy Walk 2011.  Oh how we had fun!!

Sharing da' love

I visited a new family with a very tiny and cute baby that happened to be born with Ds. 

For the past few years I've volunteered for Parent to Parent and Down syndrome Outreach of Whatcom County.  And for the past few years I've had the absolute pleasure of meeting new families.

Well over a dozen in the past twelve months alone.  Some new to Whatcom county.  Some with newborns born here.  Beautiful families with the most beautiful babies. 

I feel kind of selfish about this volunteering though.  See, I get so much more out of it then I think the families that I meet do.  Hearing their experiences, meeting their beautiful babies and helping them with any questions, means so much to me.  I feel like I get so much more out of our friendships and sharing our similar paths than the new families get out of me.

But this meeting with the family was a bit different.

Baby was sick and being carefully cared for in the hospital by his amazing mommy.  It was different too because I brought my daughter Hannah with me. 

See, her "culminating senior high school project" is on social support systems for families with a child with Down syndrome.  And the effect that has on families.  We were between a series of appointments for Hannah and I had taken a half day from work for all those medical appts.  But we had a few minutes to swing by the Arc and pick up the "New Parent Bag" full of Ds books, calendars, blanky and hat.  Then up to meet this gorgeous new baby and tell the parents congratulations. 

Hannah learned a bit about sharing your heart with another family.


How a servant's heart is always refilled and overflowing. 

Tommy Adventures