24 February 2013

Medical Genetics and Down Syndrome

Medical Genetics... what it is?

Growing up on a dairy farm... owning and breeding registered Jersey cattle and being highly involved in 4H and FFA activities to help reinforce what I was learning hands-on while working with my cattle at home gave me a pretty good foundational understanding of bovine genetics.  I learned the importance of genotype, phenotype and not to be underestimated, environment and the role it plays in an animal's development. 

Genotype V. Phenotype: Easily understood as the entire genetic makeup of an individual (under the skin) versus the phenotypic traits that can be visualized (things you can see on the outside).  In Luke's case, we have a picture of one of his cells, also known as his Karyotype and it shows us that from a genetic makeup perspective he has three copies of the 21st chromosome - validating that he does indeed had Down Syndrome.  In attempting to visualize the phenotypic expression of his genetic anomaly, one might notice the wider than normal space between his big toe and his second toe, his slightly thicker neck and the subtle differences with his facial features. 

When factoring in environment, one has to wonder what impact it might have on Luke's life long-term.  Some of the environmental factors that I know are meaningful with developing cattle are relevant in human development too..... nutrition, medical care, housing, and loving / nurturing caregivers amongst other variables. 

When visiting with our Medical Genetics team, we typically spend the time learning more about Down Syndrome, what the genetic condition might mean for Luke's life and what we need to screen and test for to make sure he is getting the best care possible.  We always review what I lovingly refer to as "The List" [Insert sarcasm here].  "The List" is published by the American Academy of Pediatrics and is the source that our doctors use to make sure we are treating Luke's development according to the proper guidelines.  The link above only takes you to an abstract of "The List" and I wasn't able to find the same version online as we were given by the doctor, so I typed up a copy, here is what is looks like:

I know that Luke's genetic anomaly makes him predisposed to the medical problems listed above.  In fact, we know that he does have Congenital Heart Disease as listed above with a 40-50% chance of being present in those with DS.  Fortunately none of the other problems have shown up yet.  We should be able to cross Hirschprung Disease off the list because it's my understanding that it usually presents itself immediately following birth.  Although he failed his newborn hearing screening, we've had a follow up with an audiologist who gave him a clean bill for hearing.  He has also had his thyroid tested twice and it's been normal both times.  He has had his Complete Blood Count (CBC) tested once to look at his white blood cells to help screen for leukemia - there was some confusion with the results and we attempted to re-draw it three weeks ago but the tech didn't draw enough blood (for both the thyroid function and the CBC) so the lab wasn't able to perform the second test.  We have an order to have it re-drawn, but I'm struggling with allowing someone to draw blood again.. they do it from a vein in his arm, just like they would for an adult and his little veins are so small.... the first time the tech did okay in finding one and only had to stick him once, but I'm fearful that it won't be so easy next time.  Seems odd for me to feel so scared about the blood draw for him... I don't mind vaccinations and he will be having open heart surgery, so I guess this really shouldn't bother me...  We haven't seen symptoms for the other items on this list and they haven't been tested for, but will continue to watch for them as Luke grows and develops.

Although I hate it to admit it, I guess "The List" is kind of important.  I should be grateful that we know to have a heightened awareness of the potential for these medical issues as the future unfolds for us, but I hate the picture it paints for Luke's life.  I wish they would mix in something positive... I've read about folks with Down syndrome being described as sweet, caring and loving individuals, what about that?  I've read about them dealing with some of the medical issues listed above and somehow, still thriving in our world, doesn't that count for something?  I wish they would share a vision of hope for families of children diagnosed with DS instead of a life of doctor visits and pain.  Medical genetics is necessary, I know that but I will say the general message they have to share and the way they deliver it is my least favorite of all the groups of doctors we've met with so far....

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