Wednesday, May 28, 2014

A brief vent

Where to turn? We are at the mercy of these medical monsters. The Rett Syndrome expert herself just called to give me the mother-of-all-tongue-lashings. She told me she actually "left her clinic where she has really sick children who desperately need her" - as opposed to our C. who clearly doesn't rate-in order to blast us. Our crime? That we asked her secretary to hold on to the blood the hubby just delivered yesterday while we decide whether or not to proceed with the MLPA test.

As I wrote, this single test will now cost us about $150 more than the expert had originally told us. She reminded me that it had taken us months to get C.'s blood samples to them for this test. Then for good measure she noted  that they are "doing us a big favor" by arranging this test.

I didn't dare remind her that her team had drawn vials of blood from C. just five months ago and subsequently claimed that they "didn't have enough DNA"! I didn't dare inquire about the status of  that blood.

No, I didn't dare because this medical monster is the only pediatric-neurologist-Rett-expert in the entire country. More to the point, she is our only chance of getting C. into the full exome study if the MLPA test results prove negative.

So I sit here blogging away, choking on rage and feeling my blood pressure climb (but afraid to actually test it).


Elizabeth said...

Hmmm. I wonder if this is the same doctor that tested my Sophie for the MECP2 gene many, many years ago. CS? If so, I am sorry that she is bullying you. She was always so kind back in the day. The whole genetic thing is overwhelming, particularly as there are no treatments when these "discoveries" are made. In any case, I hope you get things resolved and that your anger and agony dissipate, that the doctors are more compassionate and understanding. Oh, and that pigs fly.

The Sound of the Silent said...

Thanks for your kind wishes, Elizabeth. Doctor bullying is clearly a global phenomenon and not about to disappear anytime soon.
Re chasing a diagnosis: you are so right that, if and when we get one, there's no treatment for most syndromes.
And, as our geneticist once noted, when there is one, it would only ameliorate the symptoms. Never cure.
But the reason we are persevering is to clarify things for our married children. If they knew, for instance, that C.'s syndrome (if she indeed has one) is from a non-hereditary mutation it would be a load off their minds. Currently, in the dark, each pregnancy is a worrisome experience for us all. One daughter-in-law actually had an amniocentesis last month to relieve some of the worry.
PS I love your poetic but edgy posts. Keep 'em coming.