May 04, 2009


I would wager that the internet has had a profound effect on the medical field.

If I had discovered my balanced translocation 15 years ago, I would've been completely overwhelmed.  To find any information on the topic, I would've had to visit my local library and use the card catalog for books or the goofy old Reader's Guide to Periodical Literature to find articles.  It would've been far easier to have an expert just explain it to me.

But in 2009, within an hour of coming home from the doctor two weeks ago, I had a basic understanding of a fairly specific genetic problem.  By the end of the day, I was educated on two chromosomes in particular, the risks of PGD, and had even managed to find a medical article from 1982 on someone with my specific translocation.  Eventually I even read about translocations in Swedish.

So let's just say that when the doctor at my appointment today started drawing chromosomes on a paper, I had two thoughts: 1) "It's much clearer if you do it with play-doh" and 2) "No, you're doing it wrong, chromosome 22 is one of the short ones and you've drawn it equal in size to chromosome 7."

Therefore, all in all, the appointment was a disappointment.  The man was neither a geneticist nor a genetic counselor.  I don't quite understand why I had to meet with him and what we were supposed to accomplish.  I plan to spend tomorrow trying to answer those questions.

I did learn one thing though: this process could even be harder than we originally thought.  I got another blood test done today to see if we're at risk for eggs carrying 22q11.2 deletion syndrome.  Fantastic.  If so, it means that even fewer of my eggs will be able to create a healthy baby.

Just one more frustrating and unproductive day to add to my collection.

[A special hat tip to my librarian cousin for reminding me what those goofy green books in my high school library were called.]

Posted by: Sarah at 04:41 PM | Comments (3) | Add Comment
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1 I've worked at libraries off and on since I was 16 and I broke into a HUGE grin seeing the goofy green books mentioned by name.  I'd almost forgotten about them.  My only other regret is not realizing I should have purchased some library's big, wooden card I loved those.

I'm so sorry this guy didn't wow you with his vast store of general or specific knowledge.  What a ridiculous exercise in futility for an intelligent, self-purposed individual like you who would OBVIOUSLY have looked into this a little.  What did he say when you told him his drawings were not to scale and you were disappointed in his ignorance on your issue?  Maybe we should put together a care package and send it to him?  Or, an advanced package of your research for the next person you're forced to meet with?

At least it sounds like the blood test you had may be semi-productive (or at least save time later??) in the whole scheme of things?

Posted by: Guard Wife at May 04, 2009 05:38 PM (Bfea2)

2 So, I'll bet his head was spinning after meeting with you.

Posted by: airforcewife at May 04, 2009 06:11 PM (NqbuI)

3 What a blast from the past!  With rare exceptions during the 90s, I haven't used the Readers' Guide to Periodical Literature in 20 years!  What I research wouldn't be in it. The Guide is now online!

Posted by: Amritas at May 06, 2009 05:04 PM (+nV09)

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