Thirty-Five Weeks Together: Genetic Results!

     We are in the midst of our six month check-ups with all our specialist friends. It’s good to share in the growth & progress that Isaac has had since coming home. I still can’t get over how much he has changed! (Secretly though, I'm looking forward in some medical appointment downtime. Our day off together is monopolized by medical appointments three out of four weeks of the month).

August 2012
Look at those skinny little arms!

April 2013
Not so thrilled with being
photographed in the tub
apparently.

· We’ve graduated from the Adoption Medicine clinic and have established care with a local pediatrician. He is well loved in the community and is a lovely Christian man which blesses my heart. We’ve been in his office every two weeks for the last 6 weeks already because of a persistent ear infection, so Isaac knows the office well and walks himself straight in to grab papers off the printer under the desk. Heck…put the kid to work! We’ll need a college fund at some point!

· Ophthalmology (eye doctor) gave us the all clear for another 6months. Still no glasses needed—Praise the Lord! Not that glasses are a bad thing (I wear them!), but I am believing that as Isaac’s muscles get stronger that will include the muscles around his eyes and hopefully we can avoid spectacles for a long while.

· Neurodevelopmental clinic saw us again as a formality. Isaac is so well cared for by his therapy friends we won’t need to follow up with NDP anytime soon.

· We attempted a re-do on Isaac’s basic hearing evaluation instead of getting a sedated hearing test. He did better this time following instructions, but it appears that he may have a mild hearing loss. This is common in Down syndrome and it doesn’t appear to be affecting him much---he responds to nearly everything and ignores me appropriately (!), so I’m not overly concerned, but we’ll confirm with the sedated hearing test next month.

 

 

· We got the genetic studies back this week!  The label on my boy's designer genes is: 47 XY +21  47 genes (not 46 like boring ol’ you & me). XY (that means he is definitely a boy). +21 (the extra chromosome is on the 21^st set, therefore Trisomy 21)

     There are three different kinds of Down syndrome. I think I’ve mentioned that before. The goal of doing this testing was to confirm which of the three types of Down syndrome Isaac ultimately has, because while Ds is a spectrum disorder (wide variety of affectedness), there are certain successes and illness that can be expected with each of the different types of Ds and we want to be as prepared as possible to keep my boy healthy.

     Here is a little Biology 101 review. Spoiler alert…the word sperm & egg are about to appear! Cover sensitive eyes if needed. :)

 

23 chromosomes from mom + 23 chromosomes from dad = 46 original recipe chromosomes

 

Mosaic Down syndrome: occurs in about 1-2% of all people with Down Syndrome. In this type of Down Syndrome the goof in separation of the 21st chromosome occurs in one of the first few cell divisions AFTER fertilization. This causes the baby to have some cells with 46 chromosomes and some with 47. The cells with 47 chromosomes have one extra 21st chromosome. Because not all the cells contain the extra chromosome 21 the range of physical problems varies depending on the ratio of cells with 46 chromosomes to those with 47 chromosomes. Clinically, babies born with Mosaic Down syndrome can have the same features and health problems seen in babies born with Trisomy 21 or Translocation Down syndrome. However, the presence of cells with the normal number of chromosomes may result in fewer characteristics of Down syndrome.

23 chromosomes from mom + 23 chromosomes from dad.
Add some spicy splitting of the cells and some cells get 46, others get 47.

 

 

 

Translocation Down syndrome: occurs in approximately 3-4% of babies born with Down syndrome. In this type of Ds a part of chromosome number 21 breaks off and attaches itself to another chromosome. Often this is chromosome number 14. This causes all cells in the body to have the extra piece of the 21st chromosome. When a child is born with this type of Down syndrome it could mean that one of the parents is carrying chromosomal material that is unusually arranged. Ultimately, this means this type of Ds is ‘inherited’ just like blue eyes or brown hair.

Trisomy Down syndrome: This is the most common (95%) of the three types of Down syndrome and is often referred to as Trisomy 21. This type of Down syndrome occurs because of some creativity in cell division when a pair of the 21st chromosomes in either the egg or the sperm do not separate as originally planned. This extra chromosome is then found in every cell in the body, thereby showing the characteristics that we most often associate with Down syndrome.

 23 chromosomes from dad + 24 chromosomes from mom = original recipe plus special sauce!

 

 

     Having this extra genetic information about my sweet boy will help us plan for the future, but the important point to remember is that, no matter how many chromosomes or in which order, EVERY person is created PERFECTLY by God's hand alone (no matter what science or medicine says!). I'm so excited to see the Lord work through my son and his super-chromosome in a way that is totally different than his cousins; to be apart of our Heavenly Father's unconditional love genetically lived out in my little boy's hugs & smiles. What an amazing adventure this will be for us all!