Creutzfeldt-Jakob: practical guide

Creutzfeldt-Jakob (CJD) is a 100% fatal brain disease. It affects about one person in every one million people and kills within a few months.
For my mum, first symptoms showed up in October 2016, a couple of weeks after her 59th birthday. As my sisters, father and I didn’t get the slightest piece of information once she got diagnosed with it, I’m sharing some facts from our personal experience: hopefully they will provide some answers and/or somehow help those about to go through it to know what to expect. In any case, good luck.

1. What my sisters and I struggled the most with was how fast CJD progresses: six weeks before being tied up to a hospital bed screaming, my mother and I were bitching about the French presidential candidates whilst making her favourite mango/red onion salad and listening to jazz.
   Timeline: she started being exhausted and feeling down, then have impaired vision and balance problems. She went to the hospital where the MRI and scanner were perfectly normal -at which point CJD was ruled out, so don’t cry victory too early…- but Neurologists failed to see the electroencephalogram was anomalous: they sent her home with some Xanax (don’t ask). Shortly after she went through a week of extreme paranoia and dementia — that’s when she got taken back to the emergencies. There, within less than 48 hours, she became aphasic, nearly blind, incontinent, unable to eat or move.
   Once the protein 14–3–3 was tested positive, we were told she had about two months left but could die any minute (aren’t we all…). 45 hours after hearing the diagnosis, we were sitting in a room where the palliative cares told us to start thinking about stopping active care. We had barely caught our breath when we were asked whether we preferred the light or dark pine coffin.
2. My sister casually found out that you’re not allowed to be buried when you die from a prion disease and apparently pine is better for incineration. I didn’t check — at some point you take everything at face value.
   While I’m at it: whoever came up with the formalities and regulations re: body ashes has demonstrated prodigious zeal verging on sadism. Among my favourites (I have several): if you decide to keep someone’s ashes at home, your house automatically becomes a sepulchre and the ashes must remain there *forever*.
   All this might apply to France only, though (?)
3. The minute you start googling “Creutzfeldt-Jakob disease” you get all kind of ads for urns. You can become a tree — that became my sister’s new fancy after she saw the sponsored video on her Facebook feed.
4. Let me save you some time: I’ve already contacted pretty much all the prion diseases researchers in the world. The only hope is at UCLH in London, where they’re about to release a new experimental drug -the PRN100- in Spring 2017 for early stages CDJ. They’re just waiting for the green light from three “experts” (from the manufacturer) who are still debating whether or not it is safe for people with a couple months to live to get that drug as a potential cure. Besides CJD is too rare to conduct placebo trials.
   N.B. I did contact the Medicines and Healthcare products Regulatory Agency (MHRA) in the UK, who said “doctors may prescribe an unlicensed medicine for an individual patient outside of the clinical trials setting, where they consider that the benefits of treatment outweigh any risks of using the unlicensed medicine. In such situations, a clinician may decide to prescribe on his personal responsibility an unlicensed medicine to meet the needs of an individual patient.”
5. Just so you know, the antibody used in the the PRN100 has been ready for *years* but they couldn’t find fundings to complete the process sooner. Not as profitable as dating apps for investors, not enough people dying from CJD for pharmaceutical laboratories.
6. The Doxycycline therapy supposed to increase survival of 4–7 months doesn’t actually work. Having said that, we still asked the hospital to prescribe it. Not sure it was best: there can be some bad side effects to antibiotics given over a long period of time.
7. We didn’t want our mum to die in intensive care so we opted for home hospitalisation. It’s 24-hour hard work, even with the precious help from my sister, dad and nurses. You learn to sleep 4hrs/night, to somehow reconcile work and home-care, you gain a wealth of knowledge on feeding tube pumps, how to move a body, etc.
   You’ll need large button front nightgowns, a walk-in shower (you need to be three for a shower, btw), anti-bedsore mattress and pillows and some other equipment I hope you never knew existed.
8. Keep doing blood tests as you need to check the effects of the drugs and diet you give (hepatic function panel, etc.). Keep doing massages, keep checking all body parts, keep moving the body, keep washing the mouth, don’t forget to give enough water every day, keep putting on your mum’s moisturiser and perfume, keep braiding her hair, keep reading stories and playing music, keep putting all her closest friends who call on speakerphone, keep doing laundry everyday, keep telling stupid jokes and everything happening in your life, in the news, etc., keep telling her you love her even though you have little hope she understands…
9. As the brain gets increasingly damaged, reactions become scarcer and scarcer and it’s heartbreaking. Little by little, there are no more smiles, no more looks, she stops holding your hand, she stops turning her head when you talk to her… You’re slowly losing her.
10. No matter how discouraging the scanners are, remember that current technology is limited to brain imagery: you can see what parts are affected but for now no one can tell if those parts are actually dead — nor whether or not they could recover with a potential treatment…
11. There are three forms of CJD:
    - Sporadic CJD, for which there’s no explanation,
    - Hereditary CJD, where you test positive for a genetic mutation associated with CJD — in which case it can happen to you too anytime (whoop whoop),
    - Acquired CJD, which is a whole other story in itself.
    The final diagnosis can only be done post-mortem.
12. Eventually you tend to have very little patience with the following statements:
    - “Everything happens for a reason, you know.”
    - “Have you tried natural medicine?”
    - “Nietzsche used to say: ‘That which does not kill us, makes us stronger.’”
    - “It’s so awful for your Dad to lose the love of his life. I felt exactly the same when my ex dumped me.” / “I know what you’re going through: I felt the same when my cat died.” / “It’s just like my grand-father who died from cancer when he was 92.”
    - “At least she’s dying from the same disease as Balanchine.”
    - “Have you tried to communicate with her through eyelids, like in The Diving Bell and the Butterfly?”
    - “C’est la vie.”
    - “It’s so atrocious to see her like that, it happened so fast, it’s so unfair, so cruel. She only lived 2/3 of her life. It’s so much worst than dying from cancer where at least people can talk, at least you have a treatment protocol in place, at least you have some hope. And can you imagine her psychological suffering? Seeing yourself dying like that… It’s so awful, you’ll never recover from that.”
    C.H.E.E.R.S.
13. Everybody at home becomes such a nervous wreck that you argue often and irrationally, but also laugh a lot, in a shamelessly inappropriate and cynical way.
14. Once you’ve seen someone dying from CJD, you never, ever complain again.
15. My sister would like to share her own insights here:
    “- You don’t wanna watch The Walking Dead or Game of Thrones for a while,
    - You can’t go back to a hospital after that,
    - You really cannot count of your closest friends for support — don’t expect *any* phone calls, a super brief text-message 2–3 times/month will do- but there are other friends who are unexpectedly there for you, checking on you everyday and really, genuinely helping you going through that shit
    - If you knew what could happen to your mum, you’d be nicer to her,
    - You’re *this* close to hitting rock bottom but it could still get worse: you could get the hereditary CJD yourself (5–10% of chances) and start having the early visual symptoms…,
    - Sorry but in comparison to CJD, you can’t help thinking your friends whose parents have died from cancer had it easier (they could talk and get things sorted before going, and that really makes a difference),
    - You get very blasé about stuff that gives cancer. Mum never smoked a cigarette in her life, ate super healthy organic food, was slim and athletic, and there you go… So now I smoke all the more,
    - You get very blasé of the people telling you it’s such an awful way to see your mother die you’ll never recover from it,
    - I feel pretty immune to the tragedies of life,
    - Sorry but if I’m perfectly honest, I wish CJD could have happened to someone else.”
16. Piece of personal advice: this is one of the worst, scariest, most brutal illnesses you can come across. Make it easier for yourself and accept that Creutzfeldt-Jakob is gonna put your life on hold for a couple of months.
    Trying to handle everything — work at work, work remotely, colleagues and meetings, back and forth trips back home, friends’ breakups and wedding plans, your mum’s friends who come cry on your shoulder, getting to know this amazing guy you’ve just met, Grandma’s Alzheimer and life’s usual lemons- is just too much.
    Truth is you think about it all the time, you don’t sleep, you don’t eat, you cry often, you look like Sadako Yamamura in The Ring, and eventually your body reacts and your GP tells you what you have is always due to emotional trauma...
    Step back and take a break from your life before you collapse. You’ll need that time.

Our mum got a particularly searing variant of the illness but either way there are several levels of cruelty to CDJ :
- CDJ brusquely interrupts life. As mental impairment becomes so severe so rapidly, the person doesn’t have time to say goodbye, to make any dying wish, there was no time to put anything in order, everything just got suddenly dropped.
For each of us, the last words from our mum were just delirious before she lost the ability to speak completely and those last memories are haunting.

- Having said that, in her brief moments of consciousness (weeks before CJD was diagnosed) our mum told us she would die very soon and would never reach her 60th birthday.
She knew.
After becoming aphasic and blind, she would simply cry, being terrified of death, and there’s nothing you can do.

- There’s nothing you can do. There’s nothing you can do. There’s nothing you can do. There’s nothing you can do. There’s nothing you can do.

- The one experimental treatment is just about to become available. A matter of weeks, a matter of paperwork... And thinking of how close it was drives you crazy.

- CJD is unbearably fast but excruciatingly slow at the same time: weeks watching your mother slowly lapsing into a hopeless coma, knowing well that she would have begged you to put an end to it if she could have.

- Besides the 0.0001 % chance to get that illness in the first place, no one can explain why Sporadic CJD happens, why, how, some of Mum’s normal prions magically changed into an infectious form of the protein… and not knowing makes it even harder to accept.

Tell the people you love that you love them, and embrace the present moment. That’s all I can tell you, really.