Microwaves, Rectangles, and Ellen: TRIS

3.04.2010

TRIS

http://web.coehs.siu.edu/Grants/TRIS/kidsofTRISDateOrder.html

Here's another great organization you may want to learn more about:

TRIS - Tracking Rare Incidence Syndromes

TRIS has been collecting data on kids with different types of trisomy and they make this data available to parents, doctors and other professionals working with kids with trisomies to increase the global knowledge base. This helps determine courses of treatment and therapies, but also helps show that a trisomy dx is not always, "incompatible with life" as some doctors like to say.

Jackson is on his 3rd year of participation in this project. He was also one of their featured kids in 2007. You can see his little two year old face in the link above. Wow, that seems like forever ago!

Object du Jour: I can now draw iPods in my sleep.

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J's History:

Jackson was born July 30th, 2004. He was 8 lbs, 1 oz and 20" long.

Everything seemed to be going well except feeding. J was taking anywhere from a half hour to 45 minutes to finish an ounce of formula. He was unable to latch to breastfeed because of a smaller lower jaw, but "they" told me it would come out on it's own with continued feeding. I also noticed his left eyelid was droopy, but they told me that would resolve itself as well. Same story with his overlapping toes. I had a nagging feeling in the back of my head that something wasn't right. Every time I voiced my concerns, I heard, "Oh, it's just first time mom worries."

At 3 weeks of age, after ongoing weight checks, he was still under his birthweight and continuing to have trouble feeding. His ped diagnosed him failure to thrive and ordered a chromosomal karyotype because of the lack of weight gain and his ears "looking a little funny".

When he was five weeks were told Jackson has trisomy 4p, inverted duplication, 46, XY, dup(4)(pter-p16.3::p12->p16.2::p16.2->qter). This basically means that almost all of Jackson's "P" arm on his 4th chromosome has been copied, inverted, and attached to the tip of that "P" arm.

After waiting several weeks to see the geneticist (with no help from that ped; we started seeing a new ped and we've been with her ever since) we were told he would most likely never walk or talk, have seizures and medical issues and be severely "retarded" (I hate that word).

Jackson has been very healthy, with no serious medical concerns. He has occasional croup/strider episodes that land him in the hospital overnight. We're still working with drs to figure out why these episodes happen. Weight gain has been the biggest challenge for J and he had a G-tube placed in March '06. He had a trigger thumb repaired and wore a DOC Band for 9 weeks due to positional plagiocephaly. He currently has issues with strabismus (wandering eye) and wears glasses to (hopefully) correct it. In July 2009, J was also diagnosed with mild-moderate autism, but not all of his providers agree about this dx.

At 13 months, he stopped breathing when I fed him a baby food with milk in it. Scariest thing ever! After testing, it was determined that he is allergic to milk, wheat, soy, oats and peanuts. He has outgrown all but milk and peanuts. We carry an Epi-pen for him, just in case.

J started to receive physical, occupational and speech therapies at 7 months of age through the birth to three program. Education started at 2 years. J is now in 3rd grade.

I'm frequently asked, "What caused this?" We don't know. J's diagnosis is "de novo", basically meaning of no known origin. Randy and I were tested and our chromosomes are "typical". J's younger brother, Jameson, has no chromosomal issues.

I'd love to hear from other trisomy families!

wjo4244 at gmail dot com

A little about this site...

If you are new here, you may wonder what the title of the blog means or what the "Object du Jour" means. Or why I even decided to start a blog about my child with special needs.

I started the blog almost as a challenge from one of J's doctors who told us not to Google anything about J's trisomy because "no one ever posts anything positive about trisomies on the internet." The Gauntlet was thrown. I'm not saying we haven't had out share of frustrations and scary moments with J, but I wanted to make sure that I put out there the wonderful things he's doing and learning every day in spite of his diagnosis. P.S. I don't follow directions well and I did Google and found almost nothing about trisomy 4p. That's the second reason I started the blog...to find other families struggling to find information, just like I was.

The title refers to Jackson's 3 favorite things: microwaves (he's especially interested in seeing the President's), anything rectangular (remotes!) and Ellen DeGeneres. Ellen has gotten J through some tough hospitalizations and as an added bonus, her name is in the bottom left corner of every episode in a rectangle! Convenient!

"Object du Jour" is J's favorite toy, kitchen utensil, remote, or anything that trips his trigger that particular day I blog. Things that interest him always interest me, so I decided to post them. I'd love to get into that head of his and know what he's thinking about!

3.04.2010

TRIS

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