It's OK to screw with us

My daughter's blood, before being sent
on its way to the lab this morning

Today was the third time in several years that we submitted blood to our local Rett Syndrome expert. The goal is to learn, definitively, once and for all, whether or not that is what C. has.

About ten years ago, this expert sent C.'s blood to to a lab in another country to be tested in the context of a clinical trial at no cost to us. Sounded too good to be true - and it was. The lovely expert never got back to us.

A couple of years later, we chased her up via C.'s neurologist and learned that "somehow" they had in fact received results from that far-off land - but that they were only partial and they did not include any MLPA results.

C.'s blood can no longer be traced or tested, of course. So Rett is still a possible diagnosis. End of Chapter One.

Next, six months ago this same lovely Rett expert calls us out of the blue. She offers to include C. in a national study of un-diagnosed epileptics which would check her full exome. I was elated -  my "gene dream" come true. 

We traveled excitedly for over two hours with C. to have blood specimens taken from the hubby, C. and me.

Oops, says the lovely expert several months later; C. is actually ineligible for the study. This is because while she's technically an un-diagnosed patient, she is still, the lovely expert believes, a probable Rett case. As such she's a poor candidate for gene exploration.

However, we were told, if we had the final Rett test done - MLPA - at an out-of-pocket cost of several hundred dollars. If the result was negative, then C. would be admitted to the clinical study. We agree to do just that. End of Chapter Two.

After we agree to the test, the lovely expert's even lovelier secretary notifies us that the blood taken weeks earlier in their office "doesn't contain enough DNA" for the test. Hmm, they drew it themselves. They intended to use it for full exome testing. But now they're short on DNA for one test???

My take: they flushed it down the toilet after they disqualified her for the study. How do you share that with the parents? Well, you lie, of course.

Well, there was no point in arguing. So we set about getting fresh blood samples. This was a protracted process because the expert and her secretary each took extended vacations at different times but insisted that they both be present when the blood arrived.

Today the two lovelies were both at their desks. So we finally had the HMO nurse come to our house to take C.'s blood. Then the hubby drove for over an hour to the lovely expert's hospital to deliver the vials stored during the trip precisely according to the secretary's instructions.

Less than an hour after he drops them off with the secretary, the secretary emails us. "So sorry", she writes, "I just found out that we no longer do the MLPA test at our hospital. If you'd like we can forward it to another lab and it will cost you a few more hundred dollars."

Two hours later the expert herself emails us to confirm this, and adds: "The decision to halt that test at our hospital just went into effect coincidentally today"!!!  (The exclamation points are my own). End of Chapter Three.

I could feel my blood pressure skyrocket after those emails (it's borderline OK at the best of times). Last week's uplifting meeting with C.'s neurologist was really worthy of a post because it's so rare to be treated well by the medical profession. And even rarer when your child has disabilities. And rarer still when those disabilities are profound.

In short, go ahead, lie to us, screw us over. We're the plebs of the patient population.

I'll let you know what we decide about the Rett test.