Category Archives: Genetic Mutations

The Woman with No Pain

Feature Image of Jo Cameron sourced from:

https://www.abc.net.au/news/2019-03-28/scientists-discover-genetic-mutation-that-blocks-pain/10950380

Dear Pain Matters readers,

Jo Cameron

A Scottish woman named Jo Cameron (71), a retired teacher, has never felt pain, fear nor anxiety.  In her words,

‘I was just a happy soul who didn’t realise there was anything different about me.

Recently, pain geneticists helped unravel the mystery why this was so. They found that Jo was born with 2 genetic mutations.

The first mutation is common and causes decreased FAAH activity.  A second mutation is rare and involves an as-of-yet undiscovered pseudogene dubbed FAAH-OUT that affects FAAH expression (Habib et al, 2019).  (Don’t you just love a scientist’s warped sense of humour?  i.e. FAAH OUT, for ‘far out’??)

Due to these mutations, Jo’s body is constantly flooded with a natural cannabinoid called anandamide.

Jo may have inherited these 2 genetic mutations from her father.  In her words:

‘[He] had little requirement for painkillers’.

Jo found it enlightening that after 65 years, she finally found out why she reacted so differently to certain events than others might.

This was because she feels no pain!

Furthermore, Jo does not feel anxiety, stress, depression nor fear.  Jo has never had a panic attack during a dangerous or scary incident.

In Jo’s words,

I knew that I was happy-go-lucky, but it didn’t dawn on me that I was different … I didn’t know anything strange was going on until I was 65.”

There is a lot of truth to the saying:

‘What you don’t know, you don’t miss.’ 

In Jo’s case, she did not know pain.  Therefore, she did not ‘miss’ pain.

Jo had many injuries throughout her life including cuts, burns, broken bones and numerous surgeries, all without pain.  At times, she would accidentally iron herself.  At other times, she would smell her own burning flesh before noticing that anything was amiss.

The good news is that Jo’s wounds always healed very quickly with very little scarring.

Following complex double hand surgery, her doctor found out that Jo did not require painkillers.  Stunned, he checked her medical history only to learn that she had never requested painkillers.

Jo clarified:

‘If you don’t need [painkillers], you don’t question why you don’t … you are what you are … until someone points it out.’

Referring to a hip replacement surgery, Jo stated (quoting):

‘I didn’t know my hip was gone until it was really gone.  I physically couldn’t walk with my arthritis.’

‘I’d not had a twinge.’

Jo added:

‘It would be nice to have warning when something’s wrong.’

Two years ago, a young driver cut in front of her by mistake, causing Jo’s car to flip onto its roof in a ditch.  Instead of panicking, Jo calmly got out of her car and walked over to comfort the shaking driver.

Many years earlier, Jo found childbirth ‘quite enjoyable really’.  (OMG! Really???)

Jo enjoyed eating hot chili peppers, saying that they left her with a brief ‘pleasant glow’ in her mouth (Habib et al, 2019; Judd, 2019; Sample, 2019).

For more details, please see References that include a 2-minute video called:

Die Frau, die keine Schmerzen fühlt.  [The woman who feels no pain.]  Spiegel Online (29.03.2019).

http://www.spiegel.de/video/seltene-gen-mutation-jo-cameron-fuehlt-keinen-schmerz-video-99026124.html

Ashlyn Blocker

Whilst rare, Jo Cameron is not the only person who can not feel pain.  Amongst others who do not know pain is a teenage girl from Georgia, US, named Ashlyn Blocker.

Ashlyn was diagnosed with congenital insensitivity to pain with reduced ability to sweat.  Gene testing revealed that Ashlyn was born with 2 novel SCN9A (Nav1.7 sodium channel) mutations.

Given that this blog focuses on stories about people living with pain, and not on those who do not know pain, curious readers can find further details about Ashlyn Blocker (whose gene mutations block pain … pardon the pun) in the References below.

 

In closing, wouldn’t it be great if not feeling pain was an option for as long as desired?

Sabina Walker

Blogger, Pain Matters (in WordPress)

REFERENCES

Jo Cameron

Media

(1) Judd, Bridget. Scientists discover genetic mutation that helps block pain and improve healing. ABC News (28 March 2019).

https://www.abc.net.au/news/2019-03-28/scientists-discover-genetic-mutation-that-blocks-pain/10950380 

NB Above link only works if you ‘copy and paste’ manually.

(2) Sample, Ian. Scientists find genetic mutation that makes woman feel no pain. The Guardian (28 March 2019).

https://www.theguardian.com/science/2019/mar/28/scientists-find-genetic-mutation-that-makes-woman-feel-no-pain

Peer-Reviewed Paper

(3) Habib et al. Microdeletion in a FAAH pseudogene identified in a patient with high anandamide concentrations and pain insensitivity. BJA (2019).

doi.org/10.1016/j.bja.2019.02.019

https://bjanaesthesia.org/article/S0007-0912(19)30138-2/fulltext

Video (in German, Subtitled in English)

(4) Spiegel Online. Seltene Genmutation – Die Frau, die keine Schmerzen fühlt. [The Woman Who Feels No Pain.] Spiegel Online (29.03.2019).

http://www.spiegel.de/video/seltene-gen-mutation-jo-cameron-fuehlt-keinen-schmerz-video-99026124.html

Ashlyn Blocker

Media

(1) Agresz, Patrick. The Girl Who Has Never Felt Pain. Patrick’s Case Studies (31/10/2017).

https://patrickscasestudies.wordpress.com/2017/10/31/the-girl-who-lives-without-pain/

(2) Heckert et al. The Hazards of Growing Up Painlessly. The New York Times (15/11/2012).

(3) Associated Press. Rare disease makes girl unable to feel pain. NBC News (11/1/2004).

http://www.nbcnews.com/id/6379795/ns/health-childrens_health/t/rare-disease-makes-girl-unable-feel-pain/#.XKYH0S2B1Z1

Peer-Reviewed Paper

(4) Staud et al. Two Novel Mutations of SCN9A (Nav1.7) are Associated with Partial Congenital Insensitivity to Pain. Eur J Pain (2010);15(3):223–230.

doi:10.1016/j.ejpain.2010.07.003

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2978801/

 

 

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