Thursday, June 13, 2013

Della's ASXL3 Genetic Research Published

The genetic research that Della participated in studying children who have a mutation of the ASXL3 gene, has been published online. And bless them, they have given free access to the publication. Many medical research articles can only be viewed by those deemed appropriate (like doctors) and often require subscription fees. Anyway, the article is long and full of science-y words, so you may just want to skim. Della is "Subject 3" so you can identify her in the article. There are pictures of the four kids (one who has already passed away) and it is clear that Della is the least severe. The description of her picture uses a few medical terms to describe the physical manifestations of the disorder. I looked up the terms and they describe Della's upturned nose, full rounded cheeks, and deep creases in her palms. All the kids have the upturned nose, deeply creased palms, low set ears, high and prominent foreheads, full rounded cheeks, feeding difficulties, developmental delays, hypotonia (low muscle tone), intellectual disability, and all are completely nonverbal. 3/4 (Della included) also have a high arched palate. The other three children have symptoms that Della doesn't. Some of these include microcephaly, non-ambulatory (can't walk), failure to thrive, bottom percentiles in height and weight (Della used to be), and have a condition that causes the bones in the fingers to grow outward towards the pinkies (limiting the use of their hands). We are so thankful Della was spared some of these symptoms. But I can't help but have some "survivor's guilt" in thinking about the children who have all of the listed issues. My heart breaks for them.

A few terms you might see:

de novo: Neither parent carries the ASXL3 genetic mutation. In all 4 kids the mutation happened spontaneously instead of being inherited and that's what makes this study so interesting (according to docs).

Bohring-Opitz Syndrome: A condition caused 50% of the time by a mutation of the ASXL2 (and sometimes ASXL1) gene. Physical manifestations are very similar to Della's (ASXL3) but kids with Bohring-Opitz have a lot of medical complications and don't live past early childhood. Della doesn't have this syndrome. 

Here is the link to the article:

And for your entertainment, here is Della eating non-toxic water color paints that I diluted in water. I knew that she would "sneak" a taste whenever she thought I wasn't looking. This video shows her "naughty" side and her blatant disregard for my (apparently bunk) authority. Della knows FULL WELL what I am saying. Stinker. Also- I don't usually say no that many times, this was just a demo.