What Charlie Gard’s battle says to rare disease parents

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The battle

for the life of Charlie Gard pierces me so deeply because I know so many “Charlies”

– children born with rare diseases their parents had never heard of much less expected. Children with little hope except for what was cobbled together by their parents. Parents who learned on the job. Parents like me. Children like my son.

So many Charlies

Unfortunately, I have also watched parallels to Charlie’s story, albeit less public ones, play out in other rare diseases. Situations where U.K. doctors ask parents how they could put a child through this or that treatment, or insinuate that the treatment is worst than just letting the rare and terminal disease play out, in other words, letting the child die even though there are other options.

I run a nonprofit called Project Alive that is funding a gene therapy clinical trial for Hunter Syndrome (MPS II). I wish Charlie’s parents at least had the opportunity to access a treatment that could help.

Now, I’m not here to pass judgment on any parent’s choice of whether or not to pursue a particular (sometimes arduous, in the case of clinical trials) treatment option for their child. That balance is always a delicate one between the symptoms, the prognosis, the promise of investigative treatments, as well as other subtle factors. But I find it inconceivable to imagine doctors or a court stepping into my shoes and trying to make that decision for me, much less stealing that decision from me.

What’s luck got to do with it?

Like Charlie, my son was diagnosed at a young age with a progressive and terminal disease. Like Charlie’s parents, my husband and I were devastated. We learned everything we could learn about his disease (Hunter Syndrome or MPS II, unrelated to Charlie’s disease, mitochondrial DNA depletion syndrome, other than sharing the nature of being genetically based, progressive, and terminal). And then we scoured the world for the latest research to save our child.

Lucky for us, a clinical trial opened up here in the U.S. with the goal of halting the progressive brain damage caused by Hunter Syndrome. And we are even funding a trial hoping to be a cure for Hunter Syndrome (watch the video above or visit ProjectAlive.org for follow the multi-episode docu-series). Unfortunately, Charlie isn’t so lucky.

But like Charlie, there are also children with Hunter Syndrome who live in the U.K., some of whom were able to enter the same clinical trial my son was in. I thought I would see a similar experience play out across the pond, but boy, was I wrong.

Medical paternalism

I watched children gain skills they’ve never had or once had and lost. Or in some cases, I watched a child only stabilize (still a huge feat in a progressive disease).

My son has flourished after an experimental treatment to stop the progressive brain damage associated with Hunter Syndrome

My son has flourished after an experimental treatment to stop the progressive brain damage associated with Hunter Syndrome

But I also watched British physicians discount those achievements as either imagined or minor. I heard British doctors question whether the medical trauma caused by the persistent medical interventions (resulting in fighting medical procedures, crying, screaming) was worse than just stopping the treatment which, by the nature of Hunter Syndrome, results in a slow loss of all cognitive abilities and then death by early teens (anxiety and crying associated with medical trauma > death?).

I felt the devastation when British physicians abandoned patients, creating situations where parents had to fight to continue accessing a drug that was slowly replacing a death sentence with a laughing child riding a scooter in the park.

If parents hadn’t fought such medical paternalism, their child would not be full of life at this very moment. Those parents were luckier than Charlie’s parents. They weren’t forced by the U.K. courts to watch their child “die with dignity.” Their children were luckier than Charlie.

Or maybe Charlie’s life was simply less valued by U.K. physicians and the courts because he is more severely disabled?

Is there a medical paternalism at play in the U.K. that we have shed since the 1950’s here in the U.S.? Is there a lesser value of life or of the autonomy of parents as health care and risk-benefit decision makers in the U.K.? Is it a perspective inextricably intertwined with a national health plan (as suggested here)?

Munchausen by proxy

I first heard of Munchausen syndrome by proxy from a television show when I was probably ten years old. It seemed so foreign that a parent would be in need of such attention that they would inflict pain or unnecessary procedures upon their child.

Some twenty-five years later, I would hear about it again and again as parents of children ultimately diagnosed with rare diseases were accused, actually or in jest, of submitting their child for needless tests, doctor visits, and desperate worry before their child was diagnosed.

“Do you want your child to be sick?” they would often hear from friends and even family after the umpteenth visit to a specialist without an answer. “You’re a hypochondriac about him,” or “You’re a good mom, he’ll catch up, you just need to worry a little less.”

Rare disease parents constantly question whether they’re making the right decisions under the ever-changing balance of risks and benefits for their unique child. Moreover, they are also subject to the skepticism of others, the assumed expertise of physicians who’ve generally never heard of their child’s condition, and the weight of the difficult decisions that they must make every day.

Medical kidnapping

Medical kidnapping is a term used to describe when the State takes children away from their parents and puts them into State custody or the foster care system, or replaces parental medical decisionmaking with that of doctors, hospitals, or the state, simply because the parents had a difference of opinion with medical practitioners about the course of treatment for their child. In some cases, it is as simple as telling a doctor you are going to seek a second opinion on a suggested medical procedure, and then parents end up being charged with “medical abuse” and losing custody of their child.

It happens here in the U.S. Many will remember the case of Jessica Pelletier, from only a few years ago, who also suffered from a rare disease (mitochondrial disease). Two years after finally returning home, Justina and her parents sued the hospital and physicians who took her from her parents care.

Charlie’s situation, arguable more dire because the parties are kidnapping him not to offer him an alternative diagnosis or treatment, but to “let him die,” is just another form of medical kidnapping.

What I learned from Charlie Gard

Although from my anecdotal experience, medical paternalism appears to be more systemic in the U.K., it clearly happens here in the U.S. and in other places too. These public and private battles speak volumes to parents of children with rare diseases.

Charlie Gard and father

Charlie Gard and his father. Photo cred: CharlieGardsFight on Facebook

The physicians and courts fighting to end Charlie Gard’s life shouts the following things to me and other rare disease parents:

1. It’s better for your child to be dead than severely disabled.

In ruling that Charlie should be “allowed” to “die with dignity,” the High Court noted, “the quality of life that Charlie has at present is not worth sustaining, for he can only breathe through a ventilator and, although they believe that he has a sleep/wake cycle, and can recognise them and react to them when they are close, they realise that he cannot go on as he is, lying in bed, unable to move, fed through a tube, breathing through a machine.”

Many children with MPS disorders like Hunter Syndrome (MPS II) reach this terrible stage in the progression of their disease. In some cases, that stage can last years, in some, merely days or weeks. Parents often make different decisions about what interventions to attempt, whether or not to issue a DNR, or how to relish the time they have with their child. Sometimes, time allows for a promising new treatment to be developed which may or may not help that child. But still, the decision is the parents’ – a difficult one.

Physicians, a court, and a legal system that is willing not only to intervene, but to press on in advocating for death over a chance for stability, even though severely disabled, is clearly expressing this principle valuing death over disability. What does that say about our society?

2. We doctors and we courts still think we’re the experts, even in rare diseases.

I AM the expert in my son. I am also a recognized international expert in Hunter Syndrome. So many other parents I know, albeit maybe not as loud as I am, are experts as well. And while I may not have a degree in genetics, I know enough to have given up my (trained) career as a lawyer to help design and fund a gene therapy clinical trial. And the fascinating thing is, I am not unique or stellar in this regard.

I cross paths with parents of children affected by hundreds if not thousands of the approximately 7,000 rare diseases. They are experts as well.

And from everything I’ve read about Charlie Gard’s parents, they know the pool they are swimming in. They know the disease. They know the proposed treatment. They know the odds. They know the prognosis and the possibility.

The above headline is no news to the rare disease community. But apparently it is an insight that U.K. doctors and courts in Charlie Gard’s case still need to read.

3. Society still doesn’t understand rare diseases.

The High Court is giving Charlie’s parents one last chance – it wants proof that this experimental treatment will help Charlie (read more). Sadly, I doubt that proof exists. The court has created a standard higher than even a clinical trial, and without one, what Charlie’s family has are anecdotes and the measured realism of physicians.

It’s just another gross misunderstanding of the nature of rare diseases, possible treatments for them, and parents’ realistic expectations for such treatments. As one such parent once noted at an FDA meeting, “We don’t need the Queen Mary. We’re just looking for a lifeboat.” That parent (and my friend) Tracy VanHoutan and his wife Jen have two children with Batten disease and are just another example of rare disease parent experts. Sadly, their son Noah lost his battle last year at 11 years old.

If the High Court’s high bar had applied to my ability to access an experimental treatment for Hunter Syndrome, then I would probably be planning my son’s funeral by now. Instead, yesterday he made his own breakfast, went swimming, and read a book.

Although I’ve now read extensively about Charlie’s condition, the proposed nucleoside therapy treatment and other children who have received it, I can’t say for sure that it will help Charlie, much less help him to the same extent that my son’s experimental drug has helped him. I can’t say what I would do if I were in the position of Charlie’s parents. I can’t say if death is closer and more humane than flying across the ocean for possible stability. (Wait a second, yes I can. I totally get it, just after typing that. I would fly. I would try. I would exhaust all possibilities.)

But I can definitely say this:

That decision should be one made by Charlie’s parents. Not a court. Not a hospital. Not the press. Not me.

His parents were thrown into the fire of a rare disease they didn’t expect. But with 16 children diagnosed with Charlie’s condition in the world, I’d bet my bottom dollar that they know a whole lot more about it than every one of us. Combined.

I hope they get the chance. And I hope the treatment helps Charlie. But however this plays out, let’s not forget that this is all about a baby.

A baby named Charlie.

 

Read more about Charlie’s fight

(c) 2017 Melissa Hogan. All rights reserved.

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Melissa Hogan is a lawyer by training, a writer by passion, and an advocate by necessity. She is the Founder and President of Project Alive, a 501(c)(3) nonprofit Hunter Syndrome research and advocacy foundation. Project Alive is raising $2.5 million dollars to fund a gene therapy clinical trial for Hunter Syndrome and has sponsored a docu-series about families facing a Hunter Syndrome diagnosis.

Watch the trailer and first two episodes at ProjectAlive.org and follow Project Alive on Facebook and Instagram.

 

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Last modified: July 12, 2017

3 Responses to " What Charlie Gard’s battle says to rare disease parents "

  1. Gary Lewis says:

    Since when does do no harm mean kill anyone we think is going to die anyway? Talk about doctors have developed a god complex. Followed by socialists governments with the same aforementioned complex.

  2. Really beautiful blog post that speaks to very accurately and poignantly about the rare disease experience.

  3. Jessics says:

    As a mother that has been raising two children between both countries, nothing sickens me more than the U.K.’s right to collectively parent and make decisions for my children, whom they do not personally know at all. Until you witness it, it is actually unbelievable to most. Thanks for writing this and highlighting it.

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