Why the World Is Weighing in on Charlie Gard's Care

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Last Tuesday, the European Court of Human Rights denied Chris Gard and Connie Yates’ request to bring their son Charlie Gard, a 10-month-old with a terminal rare disease, to the U.S. for an experimental treatment. As news of the court’s decision made headlines, influential figures from around the world — including the Pope and President Donald Trump — have tweeted their thoughts about the care of Charlie, who is set to be removed from life support.

The Gard family has been petitioning court decisions since February, when the hospital treating Charlie asked the courts if it could switch the child to end-of-life care. The European Court of Human Rights was the family’s final appeal. Charlie has mitochondrial depletion syndrome, which doctors at Great Ormond Street Hospital for Children (GOSH) say is untreatable. Commenting on a previous court ruling in a statement late May, the hospital said, “It is in Charlie’s best interests to be allowed to die with dignity,” adding that the boy has an “exceptionally low quality of life.”

Charlie’s parents want to take him to the U.S. for nucleoside therapy treatment, an experimental therapy. “We just CAN’T let our baby die when there is something that might help him,” his parent’s wrote on their website dedicated to Charlie’s story. “We won’t give up on him because he has a rare disease. He deserves a chance and he deserves a life as much as anyone else.”

Within months, the family had raised more than $1 million to bring Charlie to the U.S. However, doctors in the U.K. remained adamant that medical treatment, even experimental, would not help Charlie.

“The doctor in the United States has not had the opportunity of examining Charlie but, based on the medical information available to him, has acknowledged that he thinks Charlie ‘is in the terminal stage of his illness,'” GOSH said in a statement.

Since the final court ruling, many people have shared their thoughts regarding Charlie’s care. On Sunday, a spokesperson for the Vatican told Vatican Radio that the Pope is praying “that their desire to accompany and care for their own child to the end is not ignored.”

Others including parents and members of the disability community have weighed in with their thoughts as well.

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Why I Won't Say 'As Long as My Baby Is Healthy'

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In my pregnancy, you will never hear me say “as long as my baby is healthy.”

Don’t get me wrong. We all want, wish and pray for a “perfectly healthy” baby. But what if there wasn’t that guarantee? What if you knew there was a chance your child’s life could be a difficult one? What if you knew that chance was 33 percent?

According to the genetic counselors we have spoken to, our child has a 33 percent chance of having a congenital disorder of glycosylation.

No one knows the struggles more than we do. No one knows the numerous hospitalizations, appointments and sleepless nights more than us. No one knows the hard work and determination more than us. It took our son over a year to roll and four years to sit up, and he still needs assistance to ensure he doesn’t fall over and injure himself. A common illness can put him into the hospital for over a week. His body is fragile and we know he isn’t guaranteed a long life. We are aware that our four year journey has been filled with grief and loneliness.

Immediately when I found out I was expecting, I spent days thinking, what are we going to do? How are we going to do this? What if, what if, what if?

Then I would look at our son and the only thought that came to mind was:

Your life is worth living.

His life is worth living.

Not only is he a child with extraordinary needs, he, himself, is an extraordinary child. His smile seems more genuine than anyone I have ever come across. I feel he loves with no expectations or strings attached. He trusts with all of his heart. He has brought us more joy than all of the grief, fear, anxiety and loneliness combined. I wish every single person had the opportunity to peek over the railing and carry him from his crib in the morning. He wakes with unimaginable joy — as if he was thankful for another day. He never gives up — and we won’t either.

I won’t say, “as long as my baby is healthy.”

Because I know healthy isn’t a guarantee, and for us, it doesn’t change a thing. The genetic counselor reminded me we are already experts. We know. We are not delusional about what we could be walking into. 33 percent. No matter what, we will fiercely love this child and ensure his/her life will be a life worth living.

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What It's Like to Be a Patient With a Rare Condition

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People often ask me questions like what it’s like living with my health issues, or ask me specifically about them, but most recently I’ve gotten asked what it’s like to be diagnosed with a rare syndrome.

Since I was about 15 years old I’ve lived with epilepsy, a fairly common condition. 11 years later I was diagnosed with nutcracker syndrome and pelvic congestion syndrome, and one year later I was diagnosed with pudendal neuralgia. However, I still don’t have a definitive diagnosis for my chronic pain.

What Is It Like Living With a Rare Syndrome?

Well, when my pain first started, I never thought in a million years it would lead to a diagnosis of a rare syndrome. I was fortunate to get diagnosed pretty quickly (in about a year), as opposed to some other people I’ve talked to online who it took five to 10 years to get diagnosed.

After getting diagnosed I thought things would be easier, but they weren’t. I went to approximately 14 different doctors before I found the right one. Most doctors, including specialists, hadn’t heard of it, and even the ones who had weren’t really all that knowledgeable. I was like a trophy to some of those doctors, a prized possession, because no one had ever seen someone like me. I was rare…like a unicorn (yeah, I know they don’t exist!).

 

I had doctors lie to me about risk factors to maybe potentially coerce me into choosing that treatment. Luckily I was educating myself and knew better. I had doctors even recommend treatments that were harmful because there’s not as much research out there as for other conditions. Which is why with any illness you need to educate yourself and advocate for yourself, but especially when it comes to a rare condition.

Symptoms for a Rare Syndrome?

When you have a rare syndrome/condition and start experiencing symptoms, you may often start to question if they’re part of your diagnosis, “in your head” or part of another condition entirely. There’s not much of a guideline to go by because there’s not really much research out there, and the doctors themselves unfortunately are not often that much of a help either. The people who help you the most are other people diagnosed with it.

Joining a support group is helpful, but soon you might find the other people have other things wrong that you don’t or vice versa. It’s a confusing thing and you can only keep track of what’s going on. Sometimes you have no idea if your symptoms are a part of your rare syndrome or not – you really just never know. And sometimes you wonder if you’re just being paranoid.

Treatment for a Rare Syndrome?

Now, every rare syndrome is different, but what I was diagnosed with had several different options. The least minimally invasive was a stent; however, stents sometimes migrate and can potentially be dangerous. The next are surgical options. The results are pretty iffy. I mean, there are some successful cases, and there are some not successful cases. That’s kind of how it is. Meanwhile you’re in pain and your rare syndrome is damaging your kidney and you have to do something. Oh, that was a treatment option mentioned to me by one doctor. One doctor recommended I do absolutely nothing and let my kidney fail. What?!

You have to educate yourself the best you can when you have a rare syndrome and don’t just listen to the doctors. Look at research, talk to people (but take it with a grain of salt because everyone is different and every surgeon has different skill levels – if surgery is an option). And don’t make a decision on a whim. Make an educated choice.

Results of Treatment for a Rare Syndrome?

When you don’t have a lot of options (depending on the syndrome) or research, you might not know how it’s going to go. For some people, your option may work gloriously, and for others, it may fail. That’s just how it is. (And yes, I understand that’s how it can be with conditions that aren’t rare as well, but generally there’s more research on better-known conditions.)

For my treatment choice, I chose a surgical option. It relieved a lot of my symptoms; however, it did not relieve my pain. My pain, I believe, is caused by something else. When researching all the surgical options, I had studies of about four or five people, and that was it. Sometimes the studies included fewer. There isn’t a sufficient number of studies, but you work with what you’ve got and you make the best educated “guess” as you can and do what’s best for you.

What’s the ER Like for Someone With a Rare Condition?

As someone with a rare condition, I try to avoid the ER if possible, though it’s not always possible. Sometimes the pain is too much – or whatever else is going on – and I can’t get ahold of my specialist and sometimes I have no choice.

However, the ER’s primary purpose is to get you stable. They may temporarily treat your pain then boot you out the door and tell you to follow up with your doctors. If you don’t know what’s causing your pain (as in my situation currently), they may try to find a solution or rule a few things out, but after a while they may just say you’re OK – even if you’re in pain – and just determine you’re stable and send you on your way nonetheless.

I don’t hate ERs, I really don’t. I’m a nurse myself, and they serve a great purpose and they save many lives, but as a chronic pain patient and a diagnosed epileptic, I have been treated poorly by many ER staff. I’ve been called a “liar” and a “moron” on numerous occasions, been told I was drug-seeking (despite not asking for any pain meds)… It’s a medical profession – where’s the compassion? That’s all I ask.

I never look forward to going to the ER if I have to go, but sometimes it’s unavoidable and I do what’s best for myself. I advocate for myself if I feel mistreated in any way and educate the staff. That’s another thing – the staff often have no clue what your rare condition is – and rightfully so, because it’s rare. So you may need to be prepared to explain it a million times.

Occasionally you’ll find a doctor, nurse practitioner or physician’s assistant who pretends like they know what it is. Not to insult them, but most of the time they don’t really know what it is. I don’t expect or think less of any doctor, nurse or medical professional who doesn’t know everything. That would be impossible. Ask me questions! Tell me upfront you’ve never heard about it and I’ll be happy to explain in detail. It also makes me trust the doctor more when they’re upfront with me. I always tell my patient when I don’t know the answer to a question. Then I go and find out for them. No sense in BS-ing them or lying to them or providing them with false information.

So yes, living with a rare medical condition can be frustrating at times…especially when you don’t know what’s going on with your body and whether or not it’s the cause of x, y, z symptoms, but you learn to deal with it one step at a time.

Educate and advocate for yourself…my best advice.

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What Life With Rare Disease Really Looks Like

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What rare disease really looks like:

An endless array of medical tests, all of which come back “normal” or “inconclusive.”

Carrying armfuls of documentation to every appointment to “prove” you’ve already had the tests done, already had certain conditions ruled out, already tried the standard remedies.

Years’-long searches for a diagnosis, which may or may never come.

Pre-prepared packets of information about your rare illness – assuming you’ve secured a diagnosis – to present to your doctors so they can research what you already know and “get back to you.”

That all-too-familiar fear in your gut as you sit in the waiting area of a new doctor’s office. Will this doctor actually believe you, or will he write you off like the last one? Will this doctor be kind, or will he scoff at you and say “It’s all in your head?” And even if he does believe, will he be able to offer help?

Debts of thousands upon thousands of dollars for drugs and treatments that may or may not help at all.

 

Seeing dozens of specialists. If you’re lucky, these specialists will try to work together. If not, balancing the different doctors’ orders is entirely up to you.

Sleepless nights from insomnia, pain, panic or some other symptom. But when the morning comes, your situation is no better, because you have to get up and greet a day that could bring any number of terrifying symptoms.

Bottles and bottles of prescription medications, some of them now necessary for survival, some of them just evidence of the rabbit holes you’ve gone down that just lead to dead ends.

Judgment on the faces of strangers (and, more heartbreakingly, sometimes on the faces of family/friends) when you venture from your home. They see your handicap placard, and, unless you’re in a wheelchair or assisted by some other very visible device, they often judge you. Some will even have the audacity to say hurtful things: “You don’t look sick to me.”

Crying, often at what would be considered “inappropriate” times, because you are unable to do what you once could or what others can do with ease.

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Seeing a therapist in an attempt to mentally cope with what you are physically experiencing.

Emails or phone calls from well-meaning family and friends, offering diagnoses they saw on television or “cures” they read online. Regardless of the source, your rare disease will definitely be cured if you try this new berry they found in Botswana that only grows in August…

That one guy who insists you “just haven’t been praying hard enough.”

Shying away from pictures that show a time when you felt better.

Avoiding mirrors because you don’t recognize yourself in the reflection they show.

Developing social anxiety because you fear the disappointment of friends and family when you announce you have to cancel. Again.

And…me.

Rare disease looks like me.

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Thinkstock photo via kotoffei.

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Why Research on Rare Diseases Matters

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Did you know 1 in 17 people, or 7 percent of the population, will be affected by a rare disease at some point in their lives?

Having such a rare disease as a young person is very difficult. This is why I really admire others with rare diseases but also I would absolutely love more research on rare diseases so other people don’t have to go through numerous hospital visits where doctors don’t understand the condition you have to live with.

Research into rare diseases isn’t just vital to maybe treat or even cure these diseases, but research can also put us as young people much more at ease because it means medical professionals can be given more knowledge on some of the rare diseases their patients have to live with daily.

 

I have been in the emergency room quite a bit over the last four months and undergone different tests and appointments. It hasn’t been the easiest of times but most of all it has been extremely frustrating that my rare disease is not understood. Don’t get me wrong, some doctors and nurses really have done their best to understand, but even with me trying to explain it, it is obvious it is difficult to understand what it is. I am not expecting every doctor to understand every single condition, but even more research done on other conditions relevant to my own means it could gather more information. Going to the ER as a young person and not knowing what’s going on can make you feel vulnerable. Going to the ER as a young person with a rare condition that no one understands makes me feel extremely worried.

Every day, rare disease patients have to show courage and keep believing that one day, there will be research on their illness which could have a life-changing impact on them. Until then, they rely on the professionals who we put trust in every day to treat us.

Patients themselves also like to become their own researchers because as we are waiting and forever hoping for some vital bits of research on our rare disease, we want to do as much as we can, or at least do research ourselves to try and come to grips with what we are dealing with on a daily basis. Many people with rare diseases become glued to Google and other ways of searching their diseases, but as we all know, this can just worry people, more and not everything you read is valid. But without any research from professionals, what can we go by?

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So to young people with a rare disease: do not give up hope because researchers want to find new treatments just as much as we want to be treated. It is possible that as we get older, there could be some information or treatment which could change our lives forever.

People may not see or understand rare diseases, but we feel them and they really do matter.

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Thinkstock photo via DragonImages.

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A Day in My Life With a Rare Sleep Disorder

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It is hard to understand the pain of another with no physical trace of evidence. To think there is a ghost living within a person who is standing right in front of you. But here I am. I cannot ask for much more than for those who love me to try to understand my ghost. To embrace this battle I have within myself and support me through my symptoms. The ugly ones. The ones that make me antisocial, bitter or just plain confusing.

To anyone who does not understand my neurological condition and how it affects me physically and mentally, I want to give you a snapshot of my life. Just one day:

6:15 a.m. OK, my first alarm went off. Before I snooze, take my meds. So when the third alarm goes off, maybe I will be able to get up.

6:45 a.m. Third alarm goes off. Snooze…three minutes.

7:00 a.m. *that really annoying, I-really-have-to-get-up-now alarm* Crap, I have 10 minutes to brush my teeth, get dressed and get something into my stomach. But do I want to eat yet? My meds are more effective sometimes when I don’t eat for a little.

7:45 a.m. I’m starving.

 

8:30 a.m. I’m still not awake. Maybe I should take more meds. But I don’t want to overdo it, because I know the max dose is 55 mg and if I take another one now then I might not be able to take another later. And then I might crash by 2:00 p.m. really hard.

9:30 a.m. My body aches. I am going to take my meds. Maybe just a half. That will get me to lunch. Then I’ll take the other half at lunch.

11 a.m. Where’s a couch, a dark space, a bed? My eyes are burning and my body is aching.

11:15 a.m. OK, I feel a little better since I got to lie down. “Want to do something tonight?” Text. Heck yeah, I want to!

11:27 a.m. *lunch-is-over alarm* I’m not going to make it.

12:00 p.m. Take the second half of the med. You will perk up for the rest of the day.

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12-12:45 p.m. Why can’t my meds make me feel immediate relief? Like I just take it and I’m cured?

1:15 p.m. I feel almost awake! Woohoo, why can’t I feel this good all the time? *cracks joke* Whoa, where’d that come from? I have a personality?

2:00 p.m. *watches clock* This is where I plan out if I physically and mentally have enough strength to plan to do anything after work. No groceries, gym, making dinner, showering for me if I feel my body shutting down! I’m not hungry when I’m asleep!

4:00 p.m. Phew. Clock out time. I made it another day. This is where the exhaustion actually hits me like a wave. My body melts into my car seats. Music is too much stimulus. Will anyone be home that might talk to me when I get home? Because I need my bed. And I need quiet. My mind hurts. I’m void of emotion and the energy to care about relationships.

5:00 p.m. I love how I feel after the gym. I love the transformations I am capable of making. My body is not going to get stronger or leaner by lying in bed. Humans are not made to lie down forever. Go to the gym! You will regret it if you don’t. And think how good you feel after.

5:20 p.m. “Are you coming to work out today?” No…sorry. Wow, what a waste of money.

6:00 p.m. You skipped the gym again to lay in bed…really? At least get up and do your laundry or something. “Are we still hanging out tonight?” *has excuse why I have to cancel plans from five hours ago*

8:30 p.m. Oh, I fell asleep for two and a half hours? Guess I should eat something. Well the good news is at least I know I can still sleep all night, no problem.

10:00 p.m. My laundry is still not done. Are you gonna shower? No, I’ll do it in the morning.

10:30 p.m. Can’t I just drop out of everything and sleep as long as my body lets me, for a year maybe? Maybe I just need to catch up on all the sleep I’ve missed throughout my life and then I’ll feel better…

6:15 a.m. *first alarm*

I have a rare sleep disorder. I’m not embarrassed of it. I will talk freely of it and without guilt of doing so. It is not by my own personal error that my brain has faults within itself.

8:00 a.m. me could be happy, dancing across the room with a big smile on my face. I am free and positive and everything people like to be around. 4:30 p.m. me could physically have an urge to scream that is so overwhelming I cry big, silent crocodile tears and curl up in a ball and stay in one place for the rest of the day.

To someone who loves me: I know it’s hard you’ll never know when I’ll be which, but just take the time to imagine what it is like for me. I never know either. And I really don’t enjoy the one you don’t like, either.

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Thinkstock photo via golubovy.

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