Monday, February 22, 2010

Anomalies....

Throughout Faith's six years this word has surfaced, periodically.

Anomalies....
A hard word to hear.
When she was born it was some kind of anomaly with her blood clotting.
When she was 6 months old an anomaly with her skull formation.When she was three an anomaly with her kidneys and so on and so on.
This morning I got a call from the genetics lab in our area informing me of an appointment that we were currently missing, at the time of the call. (Apparently they sent the appointment notice to our old address....the one we haven't lived at for 3 years!)
So I raced down to the appointment after Faith's first therapy, this morning.
They had not seen Faith since she was 9 months old, so there was a lot to catch up on. I ran down the list of new diagnosis over the last 5 years.
They examined her and took more blood telling me that there were several new genetic tests that they wanted to run, that had come out in the last year. OK.
Then came the discussion about anomalies.
About how even though she suffered a stroke/series of strokes at birth because she had a blood clot in her brain, she still has all these weird other diagnosis that don't usually come with just a CP diagnosis. Things that often look like genetic abnormalities or possibly abnormalities that began in utero even before her stroke.
A very foggy and agonizingly painful topic for me. I have said before that I think that most doctors make generalized assumptions about Faith but aren't really sure what is going on with her or what to do for her. I get a lot of broad brushstrokes when it comes to this kid. Things like "some kids like her just continue to have seizures despite "our best efforts"
or
"WE think that her tumor might not be a tumor but a "brain damage scar" from the insult she had at birth." (interesting....since this "scar" continues to grow after six years...didn't know scars did that and neither did our pediatrician!)
or
"we don't know why she had this blood clot. She tested positive for protein c and s deficiency at birth but now all of our tests show no sign of that!"
She IS an anomaly...
They want to present her case to their genetics panel to get another "consensus" and to try to see if anyone else has any ideas about why she is the way she is.
So here we are again more doctors wanting to run more tests to find more anomalies with her.
It is frustrating when you think after all these years you know everything about your child but as is often the case with Faith, you can be wrong.

9 comments:

Katy said...

Questions like those can keep you up at night. It's tough.

The Henrys said...

Oh I sure do understand what you are talking about here.

As for the genetic tests, there have been so much advancements made in the past couple of years. We meet with a geneticist every year and every year they have new tests to run. In the fall of '08, they found a extra piece of chromosome on Gracie's 15 chrom. The problem is that they can't tell us anything about it since the studies and research haven't caught up with the technology that they have to do these tests. I just wanted to let you know that you may get some answers, but you may also end up with a lot more questions.

Let us know what you find out!

Amy Genn said...

Hmmm....that is interesting....I can understand the frustration, but in the end, She's just your precious Faith...right?

:)

Have a great night.
Amy

Mo said...

Anomalies or not, Faith is perfect. It's tough...hang in there.

Jen said...

Oh dear, how much more can they throw at you? Personally I would find this difficult, to get used to one 'anomaly' and then have another to adjust to, and another. I can understand that you would be nervous about these tests. The answers won't change Faith from the fabulous little girl she is, but it could mean more blows and worry for you. Big hug of support. Jen.

Cjengo said...

I am sorry girl :{

jocalyn said...

anomaly schlomaly.

but i do get it... i secretly get a knot in my tummy before every specialist appointment...and sometimes vomit in the bathroom at the geneticist's office :)

faith and kendall are soooo much alike with their "uniqueness" though. i'm anxious to find out what they say.

jocalyn said...

by the way, hey soul sister came on when i clicked on your blog! made me smile :)

TMI Tara said...

This is one of the hardest thing for me. I'm sorry you're having these frustrations too. It is so hard to not know and not understand and not have any idea what to expect. {{HUGS}}