Testing Ethics

August 3, 2009 by Rieshy
To Test or Not to Test.

We know that Jack has a yet to be named genetic metabolic disorder that causes problems like low carnitine, hypoglycemia, low energy and slow growth, etc.  It is possibly in the FOD and/or Mitochondrial families, with possible celiac disease thrown in for flavor.  We know that Samuel has bouts of hypoglycemia of unknown origin.

Is Samuel's hypoglycemia rooted in the same disorder that affects Jack?

Samuel's doctor wants to admit Samuel to the hospital for a Fasting Test to (perhaps) answer this question.  They want to do blood draws at points during a fast to see what is going on with his body and blood chemistry. They also want to find out how long Samuel's body can safely fast to determine if he can go overnight without food.

No one can tell us how remote the chances are of finding out information that might change our current treatment for Samuel.  If, for instance, we find out that his ck levels or ammonia levels rise as his blood sugars drop that might be useful info.  Though I'm not sure how.  In a blood sugar crisis he'd be tested for those levels anyway.

Sam could be diagnosed with Ketotic Hypoglycemia based on the results of the Fasting Test.  I'd love that.  It's typically outgrown by age 8 or 9 and the treatment is simple, effective, and cheap- raw cornstarch at night before bed.

However, if Sam has what Jack has the labs will be chaotic and confusing.  The doctors will disagree with each other and no one will know exactly what is wrong with him. No one will have a prognosis.  We'll hear things like, "these are unusual results", or, "obviously something is wrong we just don't know what".   -And we'll continue giving Sam cornstarch at night.

There is a remote chance that Sam's test results + Jack's information could = some new clues for both of them.

The risks are assorted.  One very real risk is the chance of picking up a nasty bug at the hospital. Taking a well (at least not acute) toddler to the hospital goes against common sense.   Traumatizing our 20 month-old with the hospital itself, with multiple blood draws and I.V's and with the fact that we will have to NOT FEED HIM doesn't sound great either.

The fast could bring on hypoglycemia that they can't get control of quickly enough leading to complications. Some of the complications of hypoglycemia are brain damage, coma and death.  Personally, I do not think death should be listed as a "complication".

The chance of them not being able to get control of the hypoglycemia quickly enough are very, very, remote.  However, we are veterans of the hospital.  Weird things happen, additionally sometimes you have to deal with- politely put: dumb/arrogant/not-listening staff.

I wanted to have the Fasting Test done.  Anything that might have given me clues and a prognosis I was willing to jump through hoops for.  Anything that would have given me some assurance that when I put my baby to bed breathing, he'd get up still breathing.

Greg did not want to have the test done. Not at this point, not unless Sam evidenced more need.  He felt like it was picking at a scab or poking someone just to see what would happen.  He said that even if the labs showed everything was normal and that Sam could fast for 8 hours it wouldn't prove anything.  It wouldn't prove that Sam could fast that long if he was running a fever or asymptomatic but coming down with a virus.  After all, the two episodes of hypoglycemia Sam has had were totally out of the blue.  We would still be feeding him cornstarch at night no matter what the Fasting Test results were.

We cancelled the testing.  I still wanted to have the tests done until I was halfway through writing this post.  Looking at it in black in white was helpful.  I think Greg has something with his "poking someone" illustration.   In every other way Sam, unlike Jack,  is the picture of health.

I think Greg is correct and at this point, the dangers of the test outweigh the impossible-to-weigh possible benefits.  I think I adore cornstarch and will continue to adore it for some time.  I also know that since Sam couldn't make this decision we had to make it for him.  We made it with the information we currently have and a certain amount of gut feeling.  I also know that Greg and I have to be a team- we have to trust each other.

There is no manuel for raising children, well or sick.  I'm a black-and-white gal adrift in a sea of grey.  A sea of- just wait, and trust...  Feeling slightly sea sick:)


Redilocks said...

Having a child who is sick is horrible. Our 2 year old has GA2 another metabolic disorder. It took a year for us to receive final confirmation of her disorder. The entire year was spent worrying & waiting. My little one has had more doctor's appointments in her two years than I have probably had in my whole life.

We feel very lucky that she is doing well. Thanks to newborn screening & a great doctor we started treating her immediately for the possibility she did have the disorder.

We have had numerous doctors, nurses, friends & family members misunderstand her disorder. They think because she "looks ok" that she must be ok. I have learned through trial & error to be more assertive when it comes to her health - even if it means I have to stop being polite.

I hope you get some answers soon! Lots of good thoughts heading your way!

Rieshy said...

We've gone through the, "He doesn't look sick to me" routine too. That's a rough one to handle if you've just come off of days of little sleep because you are doing night feedings every 2 hours. Otherwise I take it as a compliment that we are handling his condition well.
Btw, are you on the FOD support gmail group? There are quite a few GA2 families in that group.

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