Lessons

...in Genetics

When a baby is conceived, there are 46 chromosomes present and they are divided into 23 pairs.  Each pair is given a number, 1 through 23.  Sometimes, one of these 23 pairs will actually end up with an extra chromosome, making three copies of the genetic information instead of the normal two.  This is a genetic abnormality known as a trisomy.  Which gene pair holds this extra chromosome actually makes a difference, resulting in certain syndromes or conditions.  For instance, a third chromosome in the 12th gene results in chronic lymphatic leukemia.  An extra chromosome in the 18th gene results in Edwards Syndrome.  An extra chromosome in the 21st gene results in Downs Syndrome.  Often, trisomies result in miscarriage - the mother's body picking up on the abnormality and recognizing it as one not compatible with life.  But not always.

After this last miscarriage, we were given the option to send the fetus off for genetic testing after the D&C.  We'd been given the same option with the first miscarriage last year, but decided against it that time.  This time, though, we took advantage of the opportunity to get just a little more information, have just a little more direction.  The results arrived this week:

Results:  02/10/10 1302  47, XY, +21
Interpretation:  02/10/10  1302  The result is abnormal.  Each metaphase was trisomy 21.  Autosomal trisomy accounts for approximately30% of all miscarriages.  For any future, the recurrence risk of a trisomic conception appears to be slightly increased in comparison with the usual maternal age-associated risk.  A genetic consultation may be of benefit...

Our neonatal nurse neighbor, who I just happened to be on the phone with when this arrived in the mail, helped really "interpret it".  Our baby boy had Downs Syndrome.  47 is the number of chromosomes - one extra, in the 21st gene - "trisomy 21".

And, did you catch it?  I said "baby boy".  Did you see it - there in the first line - "XY"?  I would have missed it had it not been for my neighbor's help.  It's been a couple of weeks since I felt like crying, but tears leapt to my eyes, just to know a little bit more about the baby we'll never meet.  The sense of loss was right at the surface again.

It looks like I also have a "slightly increased" risk over the norm for my age of another trisomic conception.  And I'm guessing it will still be recommended that I go through a series of blood tests to test for things in me that might be terminating the pregnancy (mini-blood clots, hormone deficiency) since Downs syndrome babies do often survive, therefore meaning that might not be the reason for the miscarriage.  I'll have to wait for consultation with the doctor, who of course is out of town for spring break vacation.

...in Creativity

In the wake of the miscarriage, I decided to indulge myself in a little self-exploration.  I've reached a point in motherhood where I feel like I could do something other than mothering and housewiving every once in awhile.  But I just can't quite figure out what it is, or muster the courage to do what I know I should've been doing for awhile - writing.  So I signed up for an e-course.  I touchy-feely e-course filled with women talking about finding the "real me" called Unravelling:  Ways of Seeing Myself.  I know, I know.  And even though I'm too much of a control freak to have ever "lost myself" , I do find that the writing exercises and photography assignments especially stimulate my creativity, my artistic sensibilities. Help me slow down and observe and think a little more creatively in the course of my normal daily routine.  It's nice to be made more aware, even if it's just stopping to take pictures of feet, the first photography assignment.  It's amazing how artistic feet can sometimes look.

...in Humility

A friend I've recently reconnected with asked me to write a guest post for her blog.  I felt honored, privileged, nervous to be writing for a group of complete strangers totally unrelated to me and therefore completely unobligated to read or like my writing.  It was exciting and humbling.  Thank you, Valerie, for having faith in me!