Charlie

I'm sure many of you know exactly to whom the title of this post refers.  For those of you who don't, I'll give you a hint: Charlie isn't a patient of mine.

Figured it out yet?  No?

Several people have emailed to and/or tweeted at me (I still hate that I tweet "at" people.  It seems violent somehow.), wondering why I haven't blogged about Charlie Gard yet.  Well, I haven't done any request posts in a while, so you people are finally getting your wish.

For those of you who have no idea about whom I'm talking, I'll give you the short short version.  Charlie Gard is a wee British lad who was born with an incredibly rare genetic disorder called mitochondrial DNA depletion syndrome, in which there is a drop in mitochondrial DNA in affected tissues (muscles, brain, and liver).  The affected cells can't produce the ATP they need to survive, and it typically results in death in infancy or early childhood.

As if that weren't bad enough, Charlie was unfortunately diagnosed with an incredibly rare variant of this incredibly rare disease, called RRM2B-related mitochondrial disease.  There are only 16 reported cases of this variant, and all of them have died in infancy.

Like all children with this disease, Charlie seemed like a healthy, normal boy when he was born last August, but he missed some developmental milestones, so his parents took him to the hospital when he was two months old.  Since then he has been on a ventilator, unresponsive and unable to move.  Ever since his parents received the devastating diagnosis, they have been in a legal battle with the hospital over how to treat Charlie - A) continue with aggressive treatment, or B) stop fighting and let nature take its course.

Sigh.  Here we go again.  Another tragic story of a child taken too soon.

Charlie's parents aren't ready to let go, and it seems they have been in and out of the courts every few months.  An American neurologist (who still has not been named) has averred that Charlie is in the terminal stages of his disease, but he has offered an experimental treatment called nucleoside bypass therapy, which has never been used for RRM2B (though it has had some success with a less-severe variant called TK2) and reportedly costs £1.2 million.  His parents set up a GoFundMe account that raised more than the required amount, but Charlie's doctors at Great Ormond Street Hospital argued that the therapy is untested and has risks that would outweigh any potential benefit.  In April 2017 the courts decided that the hospital could turn the ventilator off and let Charlie pass in peace.

Undeterred, Charlie's parents kept fighting.  They took the case to the Court of Appeals, which upheld the initial ruling in favour of the hospital.  The Supreme Court then heard the case, which again upheld the ruling.  They took it all the way up to the European Court of Human Rights, which just a few days ago upheld the ruling yet again.

Since the ruling, a children's hospital in the Vatican has offered to take Charlie in as has an American hospital, but his doctors have refused to allow him to fly.  Prime Minister Theresa May has agreed with the doctors, and Charlie remains at Great Ormond.  Charlie's parents have since asked his doctors to discharge him, so that he can die at home in his crib with his parents.  But he still remains where he has been for nearly his entire life.

If this is all sounding familiar to you, then you're probably aware of the similar case of Jahi McMath.  However, the two stories differ in one major way.  But how?  After all, just like Jahi, Charlie can't move, he can't cry, he can't eat, he can't even breathe on his own.  Right?  So what is this major difference?

Unlike Jahi, Charlie can feel pain.  That makes all the difference in the world (in my mind, at least).  Charlie has the capacity to feel discomfort from the pokes and prods, the uncomfortable feeling of a ventilator pushing air into his lungs every few seconds, endlessly.  And with no capacity to improve.  Ever.

But just in case you thought this was a mundane story, it doesn't stop there.  Oh, no.  Donald Trump, of all people, has thrown his hat into the ring.

If we can help little #CharlieGard, as per our friends in the U.K. and the Pope, we would be delighted to do so.

— Donald J. Trump (@realDonaldTrump) July 3, 2017

I'm not sure what Trump thinks he can do for Charlie, but I don't think a spray tan would help.

So . . .

With that very long-winded summary of the past 10 months of Charlie's life, I address the requests I've gotten, all of which have been essentially the same - "Doc, please weigh in on Charlie Gard!"

Well, you asked for it, so here goes:

I agree with everyone, and I disagree with everyone.

Thanks everyone, goodnight!

. . .

Ok, ok.

But seriously, I can honestly see everyone's point of view, and there is absolutely no good answer.  On the one hand, the doctor in me sees the futility in any attempted heroic effort, coupled with the fact that Charlie can feel pain though has no way to express it.  On the other hand, the father in me wants the parents to fight for every minute they have with their son.  But on the other hand . . .

There is no other hand.

The sad fact is that Charlie has a universally fatal and incurable disease.  The proposed treatment in America is experimental at best, has only been used a few times on a related disorder with modest success, and has never been used on anyone with such an advanced case.  There is no reason to think it will be able to reverse Charlie's terminal case, and every reason to believe it will simply cause him to endure his pain longer.  However, I can see no reason why the hospital would deny Charlie's parents' request to let them take him home.  They should at least grant them that one final wish.

I can't really say what I would do in this situation.  I'd like to think that my rational side would take over and let my child go peacefully, but just like I tell my patients, I can't guarantee it.  How can anyone think they know what they would do with such an impossible quandary?  What I can guarantee, however, is that any bullshit offer from Donald Trump would be unabashedly and vehemently rejected with alacrity and aplomb.

I welcome any respectful comments and suggestions.  Tell me I'm wrong, tell me I'm right.  Just keep it respectful.