Saturday, March 23, 2013

Trisomy Awareness Day 23, Translocation

For Day 23 of Trisomy Awareness we would like to highlight another Chromosomal disorder that often appears within the Trisomy Community: Translocation.. 

Balanced Translocation is when there is an equal exchange of genetic material between 2 or more chromosomes.

Unbalanced Translocation is when there is an unequal exchange of genetic material between 2 or more chromosomes, resulting is duplications, deletions, and sometimes Trisomies.

Either of these types can appear with or without the presence of a Trisomy, and they are sometimes a separate disorder from a Trisomy.. There are also cases of a Trisomy where the 3 chromosome is translocated (i.e. an extra 18th chromosome is attached to the 10th pair).

Trisomy Awareness Day 23, featuring Carsten’s with a Translocation!

After a very uneventful pregnancy with no indications of any problems, Carsten came very quickly at 37 weeks. He wasn't breathing when he was born and only weighed 4lbs 12oz. The first time we saw him in the NICU, the doctor suggested genetic testing because of his small size, wide spaced eyes, low tone and hypospadious. In a couple of weeks we found out he had a unbalanced translocation with a deletion on 10 and a duplication or partial trisomy on 2.
When he was 1 month old, he had surgery to remove an intestinal blockage and place a g-tube. He did not recover well and things got much worse before they got better. At 2 months old he was finally strong enough to come home, but it seemed like new problems kept appearing... tethered spinal cord, hearing loss, labored breathing, vascular ring, sleep apnea. We just dealt with each one as it came up and held our breath for the next issue. Eventually things have settled down, and Carsten seems to be thriving.
At 2 years old, he can sit up on his own and has just barely started crawling. He loves flipping through books and being tossed on the couch by daddy. He is not verbal but is learning a few signs. His favorites are "more" and "music." He is still tube fed, but was able to take a few tiny bites of cake at his birthday party. We feel so blessed to have such a sweet, affectionate, easy going child, even if it means lots of challenges along the way.

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