HNPP · Mental Health · Physical Health

Introduction to HNPP

tree-plant-sun-leaf-flower-pattern-927384-pxhere-com.jpg

Welcome. If you happen to have come across this site because you’re newly diagnosed or an old veteran when it comes to Hereditary Neuropathy with Liability to Pressure Palsies (HNPP), I’m glad you’ve made it.

First of all, this is an introduction to what exactly it is to those who aren’t aware. And it’s also a quick chance for me to say how and why I’ve made this website. No, I’m not going to do a whole “Dear Diary” kind of blog. It’s going to be a compilation of tips and advice that I’ve gathered especially for those with HNPP who are struggling to stay afloat on the best of days.

So what is HNPP?

It is a genetic nerve disorder, similar to Multiple Sclerosis and Charcot Marie-Tooth Disorder in terms of symptoms, but it affects the peripheral nerves instead of the brain and the spine. It’s also hereditary, so there’s a big, fat chance someone in your near or distant family also has it.

25ec314e2a1f9b2f95528a845b1cd33a

It’s the defect and deletion of one of the PMP-22 genes, where everyone usually has two. So when you move or lean in certain ways, it can leave the nerve damaged for much longer than usual and can grow back incorrectly.

The symptoms can consist of tingling and numbness to loss of mobility of your hands and legs. It’s different for everyone, and given that only 2-5 out of 100,000 have been diagnosed with it, there’s very little resources and research out there.

And that’s where I come in.

Why have I made this blog?

Well, without stating the obvious, I’ve been diagnosed with HNPP – and only this year after going to a yoga retreat (yes, ridiculous I know). Both my sister and I have it so that’s a nice family bonding session we have right there. But mostly, I created this because I found a lot of people can end up feeling desperate and isolated with this condition, and there seems to be nothing to address the day-to-day issues – mental health, physical wellbeing and strategies in coping. So without further ado, I hope that I can help in some small way just to acknowledge WE DO EXIST.

Hereditary Neuropathy Foundation

To donate, please find the link to the Hereditary Neuropathy Foundation here.

Please feel free to comment and give advice whenever you feel like it. (No trolls allowed).

HNPP · Profiles

Profile: Barney Lee journeys around Britain’s coastline for HNPP awareness

Featured on Radio Derby on August 10.

“Life is really what you make of it and going on a big adventure is something I really want to do and do something great with it.”

Barney Lee could potentially become the youngest person to walk around the coastline of mainland Britain. What makes this plucky 19-year-old even more unique, is that he walks with purpose, raising awareness about a “life-changing” condition called hereditary neuropathy with liability to pressure palsies (HNPP) – something he suffers from himself.

The Derby teenager commenced his 4,500 mile walk on August 10 from Mablethorpe in Lincolnshire, in a bid to try to fund further research and possible treatment for this little-known degenerative neuromuscular disorder through donations and sponsorship. 

Ahead of the walk, the Littleover adventurer consulted with the Wayne State University Neurology Department Chair in Michigan, Dr Jun Li. He says: “He seemed positive about the ambition of it but he had concerns about the potential side effects and things to do with HNPP with my body.”

The three factors he has been told to watch out for are doing repetitive movements for a prolonged period of time, stretching excessively, and limit staying in the same position for too long. Unfortunately for Lee, walking clearly consists of the former. He says: “I can alter [my walking] so I can do less in the day and have rest days, I can also walk in a different style – just think of [Monty Python’s] Ministry of Silly Walks with John Cleese going down the coast!”

67418608_471768806950037_4579187061755478016_o

While Lee is no stranger to the great outdoors, having climbed five of the highest peaks across the UK and Ireland, some of the symptoms he has already experienced are hand and arm numbness, loss of grip, as well as some strain on his legs. However, it has not stopped him from undertaking this huge feat.

He says: “[Realistically] some kind of damage will happen which is irreparable, but that’s kind of part of the sacrifice of it, to get it out there and potentially make a difference”.

The rare genetic illness has however, stopped him from going to the gym with his friends, as well as choosing a career path of his own.

“I have noticed that’s it gotten progressively worse if I compare myself to a year ago, things aren’t working as good.”

The plumber, who had also trained to become a handyman and landscape gardener, says that the condition has inhibited him in considerable ways.

“It felt like I had ten pairs of gloves on my hand and I just couldn’t move them,” he says about  how he felt the day after digging a garden during landscaping job, adding that career-wise, it would be a “bad idea” in the long and short-term, in regards to the impact on his body. 

Officially diagnosed only several months ago, but knowing about the condition through his mother’s own debilitating experience with it, the hiker says he avoided getting tested because he “did not want the label”.

He adds: “Once you have a label on you it’s not something you shake off, you have it and it’s just something you live with. And I thought why get a label on something that is currently incurable and untreatable?”

67589971_482006442592940_7399727333835276288_n

Hence the avid traveller is embarking on this journey to “generally put [the condition] in people’s minds”, and hopes that by alerting individuals to the disorder, more will notice their own symptoms, and therefore push medical companies to conduct clinical trials. With currently only 2 to 5 per 100,000 individuals diagnosed with it, Lee is certain that there are far more affected than currently recognised.

“The doctors and experts think that it’s more like 1 in 2500 people because of misdiagnosis. And the only way we can change this is by doctors more aware of this so they are able to diagnose correctly and know about the condition,” he says.

And Lee hopes that during his trip, he will be able to “hit all the nails on the head” after Dr Li, a leading researcher of HNPP, helped him find a way of channelling his initiative by recording his symptoms and movements in a medical journal, as part of a study to share with his team.

“The only way I can change my fate and other people’s fates is doing something positive like doing this walk and raising awareness.”

“My hope is that in my lifetime I’ll have played a part or a role in bringing about a change which will help potentially me, and definitely the next generation, my kids and things like that will help them out.”

And walking around the coastline appears to mean much more to Lee than a fun (but gruelling) way to raise funds, stating that he sees the campaign as a “parallel” to how people experience the condition.

“It can be a long hard struggle and it’s something that goes on forever until some kind of cure. So I’m trying to mimic that in some way to try represent what the condition is about […] you have good days and bad days.”

The rambler is also hoping to have friends, family and other walkers join him throughout the 14 month trip, as well as offers of basic amenities such as accommodation and showers. Fellow HNPP suffers have also lent a hand by providing beds throughout the adventure.

Lee, who sees the possibility of writing a book about his tour, says: “It’s just really amazing how people have got behind it, I’m really looking forward to it and what it brings and how I change and develop as a person from it, and potential amazing new friends and amazing stories to tell.”

There are lots of ways to get involved – find up to date information on Lee’s Facebook page or follow him on Instagram. And check out his journey progress at Barney Lee: My Long Walk Around Britain. To donate towards Lee’s trip or to HNPP research directly visit his page here

HNPP · Profiles

Profile: Branden Jacob-Jenkins on the importance of being ‘self-aware’ with HNPP

jacobsjenkins-headshot-macarthur.jpg

“You’ve just got to make it work for you”, says award-winning American playwright Branden Jacob-Jenkins about living with the condition hereditary neuropathy with liability to pressure palsies.

Jacob-Jenkins, who hails from New York City, is no stranger to the public eye. The 35-year-old playwright is already a two-time finalist for the Pulitzer Prize, and a 2016 MacArthur fellow, having toured the world with his renowned adaptations. But less known is the fact that while achieving huge success in the theatre world, winning both the Windham–Campbell Literature Prize and PEN/Laura Pels Award in 2016, Jacob-Jenkins battles with migraines associated with HNPP.

“I think [HNPP] has influenced a lot about the way I think about my relationships with my body, which has only enhanced or runs alongside the way that being a black male already does that.”

“I live with visual auras pretty frequently, and that is a really significant issue”, says the writer, who has recently joined the faculty of the University of Texas’ MFA playwriting program.

The rare genetic nerve condition can present an array of symptoms ranging from chronic pain to fatigue, varying from one person to another.

octoroon

Speaking to him in London last year, during his sellout run of An Octoroon at the National Theatre, Jacob-Jenkins mentioned that his frequent migraines began soon after being diagnosed with the condition at the age of 19.

He says: “It was crazy, there’s just a period of not-knowing that is so frightening. The worst part was that people thought it was a brain tumour, I had so many scans done.”

Jacob-Jenkins has subsequently had two surgeries on both his ulnar nerves to rectify some of the more extreme symptoms that he initially experienced.

“The first major symptom was I woke up one morning and I could not lift my left arm, which meant there was some sort of major palsy happening […] And in that original diagnosis, I realised that the numbness I had been feeling in my fingers [when younger] was due to this. I remember having no feeling in my pinky finger. And it wasn’t until that doctor said that this is probably related that I realised.”

The playwright, who was born in Washington DC, speaks about the uncertainty that came with his original diagnosis, and the fact that it took months to pinpoint. He says he was baffled by what this implied: “What do you mean I have HNPP, what does that mean? I couldn’t Google it. This did not tell me anything. All I know is that my arm can’t move and they would give me carpal tunnel exercises that would make it worse and it was just really difficult.”

“Here was a moment where a total lack of information about the disease was having an actual repercussion on me socially.”

While he describes his primary reaction as “traumatising”, Jacob-Jenkins, who has a major in Anthropology from Princeton University, says it may have inadvertently helped him develop his theatrical style. “I think it has influenced a lot about the way I think about my relationships with my body which has only enhanced or runs alongside the way that being a black male already does that […] Weirdly, almost every play of mine is obsessed with asking actors to use their bodies in different and stranger ways. They are either changing character over the course of the piece or they are negotiating it as an obstacle in terms of telling a story. I think that’s totally, weirdly related to my experience with this disease.”

This is certainly highlighted in An Octoroon, a radical adaptation of Dion Boucicault’s 1860’s play The Octoroon, in which the actors adopt blackface and whiteface in this version, while Jacob-Jenkins emphasises the politics of actual bodies onstage as conduits for meaning or emotional value that have changed over time.

“I’m always observing my body removed and I’m always thinking about the limitations in a way that I don’t think a lot of people do, so I do think that oddly it has some deep level that has affected my aesthetic impulses in a funny way.”

The writer first spoke about his condition publicly in a New York Times article, in which journalist Alex Witchel describes the “shocking news of his health”. However, Jacob-Jenkins appears to take it on the chin: “They think you’re dying of a degenerative disease […]  So me in this article, appears as if I’m stoic in the face of impending doom. It was also the first time I realised that I manage it fine but suddenly everyone knew I had this thing.”

“It’s about self-education and the fact that my nerve health is going to degenerate, that’s the definition of the disease, but you can take preventative steps to try and slow the process down.”

He adds: “And here was a moment where a total lack of information about the disease was having an actual repercussion on me socially.”

Despite the impact of revealing his condition, he says he has the support of his partner who he married last year. “I have my partner. But it would be nice to know more people who have this. I like my neurologists a lot and I have my friends. Right now, I’m fortunate enough to be able to walk around by myself. In a way I know the hardest is yet to come so I’m trying to enjoy what I have today.”

Regularly seeing neurologist Bridget Carey at the Weill Cornell Medicine in New York has aided Jacob-Jenkins with managing the condition. “Having someone being able to monitor this thing and coming to a conclusion about that just feels so good. You just have to own it, and stay vigilant about it.”

“Right now, I’m fortunate enough to be able to walk around by myself. In a way I know the hardest is yet to come so I’m trying to enjoy what I have today.”

The playwright says he maintains a balanced lifestyle with his “low-impact job”: “Supplements are a huge part of my diet, so Vitamins D and K , Magnesium – these things are really important and I do think they help […]  You don’t have to go to a gym and pull weights but actually you can work at flexibility and strength in small ways and it still makes in the long term a big difference. Just modify! Physically I don’t think of myself as ill. I have an illness, but I’m not an ill person […]  But in terms of work, I’m a very lucky person.”

“Physically I don’t think of myself as ill. I have an illness, but I’m not an ill person.”

And fortune favours the bold and unstoppable, as Jacob-Jenkins’ outstanding play Gloria, receives its regional premiere at Curious Theatre in Denver, collecting glittering reviews.

“I’m never going to stop working in my life. And it could have been much worse. I still have to live my life, and the body is quite resilient in spite of itself so you’re going to bounce back.”

His final word on the matter? “It’s about self-education and the fact that my nerve health is going to degenerate, that’s the definition of the disease, but you can take preventative steps to try and slow the process down.”

Gloria, presented by Curious Theatre Company through February 16, 1080 Acoma Street, 303-623-0524, curioustheatre.org.

HNPP · Physical Health

HNPP Summit: ‘Pain’ the biggest issue faced by sufferers

Results from an annual conference that took place late last year have revealed the extent of  symptoms suffered by those with HNPP. Sufferers say that pain is the number one issue that plagues them.

On November 3rd, nearly 100 participants gathered at the Samberg Conference Center on the Massachusetts Institute of Technology (MIT) campus in Cambridge, MA, for the Hereditary Neuropathy Foundation (HNF) Patient-Centered Charcot Marie-Tooth (CMT) / Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) Pain Summit. Ninety per cent of the 115 patients that took part in the study linked to the conference, indicated that their pain had a moderate to severe impact on their quality of life.

HNF study conference
Attribution: Hereditary Neuropathy Foundation

The meeting brought together people with hereditary neuropathies and their families, caregivers, clinicians, researchers, funding agencies, sponsors, leading pain experts, and the pharma industry to provide an in-depth look at chronic pain within the CMT/HNPP community, including its impact on quality of life.

The one day conference also offered expert sessions as well as breakout session, primarily led by sufferers, with a focus on identifying gaps that are hindering patient care in neuropathic and musculoskeletal pain, diagnosis and outcome measures to support development of therapies.

Consequently, HNF partnered with the voice-powered survey platform True Reply to record patient responses to a five-question survey in their own voice. A total of 621 responses were recorded by the participants over a 30-day period.

The questions asked included:

  • What type of Charcot Marie-Tooth or inherited neuropathy do you have?
  • Do you experience disease-related or other types of pain?
  • Please describe your pain symptoms as descriptively as possible.
  • Please describe how your pain impacts your daily quality of life.
  • How do you currently manage your pain?

HNF founder and CEO, Allison Moore, said that the results were “enlightening”.

Moore said: “Hearing about our patients’ experience with pain in their own words was both enlightening and heartbreaking at the same time.

“Our patients are hurting badly in so many ways, and they need guidance and protocols from their healthcare providers to help manage their pain so they can go about their daily lives as pain-free as possible.”

“The voice of the CMT patient can no longer be ignored when it comes to the protocols, treatments and therapeutics that are being developed to treat this disease.”

Allison Moore, Hereditary Neuropathy Foundation CEO

Other key takeaways from the study showed that 76 per cent of patients are managing their pain on their own, with a combination of over-the-counter medications and alternative therapies, while 63 per cent described their pain as numbness, sharp, burning or stabbing.

Jose Cotto, founder and CEO of True Reply, said: “The ability of True Reply to quantitatively analyse patient responses in real-time while also giving researchers and clinicians access to qualitative data such patient voice tone, cadence and stress levels is a real game changer for Patient Reported Outcome (PRO) studies”.

HNF are expected to continue their partnership with True Reply for their 3rd Annual Patient-Centered CMT Summit on September 29, 2018.

Moore said she hopes that as more sufferers speak out about their experiences, the better therapies may be: “We are looking forward to using technologies like True Reply to help us tell our patients’ stories in their own words so we can address their immediate quality of life issues while waiting for desperately needed therapeutics to move through the pipeline and be approved for commercial use.”

She adds: “The voice of the CMT patient can no longer be ignored when it comes to the protocols, treatments and therapeutics that are being developed to treat this disease”.

Find out more about the next summit here.

 

 

HNPP · Physical Health

Where to access all HNPP research papers

 

laboratory-2815641_1920

There have been some great developments in the world of HNPP, with the most recent being a website dedicated to all research papers related to the condition.

For those who want an easier way to explore scientific publications on HNPP, behold the website HNPP Research, compiled by a fellow sufferer, who happens to be a both a software developer with experience in the medical research field.

Speaking about the website, the creator has said: “It’s not for beginners, but if you are curious to dive deeper into the scientific side I hope this will be a helpful resource.

“There are over 500 studies and I learned a lot about the underlying causes by reading the articles. You can also search on topics of interest like “pain” to see what the latest studies say.”

On the site itself, he has asked other researchers support open access journals, sharing pre-print versions with a patient support group such as HNPP and CMT / Neuropathy Support and HNPP Help.

Please visit the website here for further information.

Find out about further resources.

HNPP · Physical Health

Could HNPP be more prevalent than expected?

Preparation for DNA  sequencing

Results from a study conducted this month by scientists at the Samsung Medical Center in South Korea, in collaboration with LabGenomics, have revealed that hereditary neuropathy with liability to pressure palsies (HNPP), is much more common than usually assumed.

Researchers estimate that one in every 5,943 Koreans have a deletion within the PMP22 gene, which is higher than worldwide estimates which stands at every 16 out of 100,000 person with the condition. It is generally believed across the board that 2-5 of 100,000 have HNPP, however, this latest research shows it is the equivalent to every 59th person out of 100,000, many of whom may present only mild symptoms. So are there more people with HNPP than we initially thought?

South Korea

Scientists sampled DNA from 11,885 Korean newborns for the study Frequency of hereditary neuropathy with liability to pressure palsies (HNPP) due to 17p11.2 deletion in a Korean newborn population, using next-generation sequencing (NGS). In all, more than six million sequence reads were analysed using a bioinformatics platform.

The team detected seven samples of those tested with deletions of genetic content affecting the 17p11.2 chromosome – which includes the PMP22 gene – and two cases of PMP22 gene duplication leading to CMT1A. They report that all samples were from unrelated families with six out of seven being female, and three (42.9%) had a family history of HNPP.

The exact prevalence of HNPP remains unclear, however, a prior study from the Republic of Ireland and in southwestern Finland reported a prevalence of 0.84 per 100,000 to 16 per 100,000. The major difference in this study is that patients with symptoms of HNPP were tested under the Irish and Finnish report, whilst South Korean researchers analysed data from newborns.

Previously reported prevalence of hereditary neuropathy with liability to pressure palsies:

Country Number of cases Estimated prevalence per 100,000 Year Reference
Republic of Ireland 29 0.84 2017 Lefter et al.
Northern England 59 2.0 2012 Foley et al.
Newcastle upon Tyne 19 7.3 2012 Foley et al.
South West Finland 69 16 1997 Meretoja et al.
South Korea 7 58.9 2017 Jong Eun Park et al.

Attributed to: Frequency of hereditary neuropathy with liability to pressure palsies (HNPP) due to 17p11.2 deletion in a Korean newborn population, 2018, Jong Eun Park et al.

While the study had limitations and the number of subjects may not be adequate enough to estimate the exact prevalence of the rare genetic disorder, it still provides insight regarding the baseline frequency of the chromosome deletion that commonly causes HNPP.

As the authors say: “[A] significant proportion of parents with PMP22 duplication already have CMT1A-related symptoms and may be more likely to request prenatal genetic diagnosis or preimplantation genetic diagnosis (PGD) rather than neonatal screening.

“Our data suggest that PMP22 deletion [associated with] HNPP might not be uncommon, at least in the Korean population,” they concluded.

Read: HNPP and Scientific Developments

HNPP

Where to donate and fundraise for HNPP

HNF fund
Copyright: Hereditary Neuropathy Foundation

You may have spotted the lack of posts for the past few months. This is solely blamed on that age-old issue of brain fog, as well as notoriously rebellious hands. Hence, while I was Google searching “How to get rid of brain fog with HNPP”, lo and behold, I find what appears to be one of the first official donation pages for HNPP! (I have definitely never come across this before, but I may be wrong).

Thanks to the Hereditary Neuropathy Foundation (HNF), a leading patient advocacy organisation for those affected by hereditary neuropathy including Charcot-Marie-Tooth Disease, GAN (Giant axonal neuropathy) as well as HNPP based in the US, there is now a place to raise money for important research.

As many with the condition know, money is scarce and not many health professionals are currently researching the condition, with only the exception of a few including the renown Dr. Jun Li, a professor of the Department of Neurology, Brain Institute and Center for Human Genetics Research at Vanderbilt University in Nashville, Tennessee. His research lab pages can be found here.

And HNF are very keen on people to get involved in fundraising:

So if you have any ideas on how to raise money, or want to get involved – feel free to comment below.

Last, but not least, here is the link to the page: Hereditary Neuropathy Foundation

HNPP · Physical Health

Trend-Able provides new fashion insight for the chronically ill

trend-able

For those who follow disability forum Team Inspire, you may have spotted Lainie from Trend-Able launching her new website with the tag line “where your disability is not an accessory”. Now this is a bit of a godsend for some women who struggle with buttons and even pulling up socks, but it seems that Lainie will be providing first-hand insight on what to use, and wear especially for those with orthotics and prosthetics.

After my work Christmas party, my legs had lost all feeling thanks to the stupidity of high heels and my own lack of commonsense. So it was only time that someone with the wits and the technological wisdom to create a wonderful site full of tips and tricks. And while it’s still a very new creation, it might be worth subscribing for any future information.

If you’re a fashionista, never fear, Lainie is here.

Visit Trend-Able.com.

Follow Lainie on Instagram.

HNPP · Physical Health

Benefits of Occupational Therapy for those with HNPP

ergotherapy

After several months of falling off the internet radar due to unruly fingers, I realised I may need some outside help. That’s where occupational therapists and vocational rehabilitation comes into play.

It’s easy to become confused over the role of an occupational therapist, given that it seems as if it is related solely to work-based activities. However, they cover a wide range of issues and activities that allow a person to operate relatively independently.

What is occupational therapy?

Occupational therapy is crucial in helping a person cope with the functional, vocational, and social impact of the condition. It helps a person in improving sensory motor skills through regular exercises related to it. It also teaches us to avoid exposure to certain environmental and industrial toxins that can be harmful.

The OTs also teach self care activities and patient safety issues. The therapist also teaches us to pay attention to issues which involve functions like learning how to change positions smoothly to avoid becoming numb and how to prevent falling. They can work with physiotherapists to ensure you get the best care possible.

There is a strong educational element in occupational therapy. Therapists typically teach people how to:

  • Prevent falls by watching out for uneven terrain and other hazards
  • Adjust habits, such as sitting correctly without injuring yourself
  • Make ergonomic changes at work and home to reduce pain and increase mobility
  • Find the best solutions to allow you to live independently.

occupational therapist

Obviously, there are a lot of crossovers with vocational rehabilitation when it comes to learning to stabilise yourself. From avoiding falling at home and work, as well as correcting your posture, which can be applicable in any situation. Therefore an OT can be in charge of:

  • Environmental assessments – at school, work, home
  • Equipment recommendations
  • Fatigue management
  • Career advice
  • Workplace assessments

OTs are people-centred and their goal is to promote and enable independence. They will assess how well you cope with activities of daily living (ADLs), listen to your needs concerning personal care, leisure, work, study, travel and household management and advise on options for you. Their assessment may involve breaking down the activities you find hard into their component parts.

For example, if you have neuropathy you may struggle with everyday activities like getting dressed, opening food packets or holding a pen to write. Your OT will work with you to find solutions to these problems to help you remain independent. Solutions may come in the form of trying some adaptive equipment to compensate for your difficulty, or by working on activities to help maintain strength in certain muscle groups.

OTs can also make referrals for making splints for hands. People with HNPP may develop problems holding and gripping and experience some muscle wasting in their hands. A hand splint can help to keep your hand in a good position in order to minimise pain and muscle contractures.

At various stages of the condition, an OT may be able to offer expertise in areas such as:

  • Individualised fatigue management programmes to understand the nature of your particular fatigue within your daily life
  • How to more effectively prioritise and manage your time to achieve the things you want to do
  • Strategies to improve sleep and good quality rest
  • Relaxation as a coping strategy – for example as a stress or pain management technique
  • Ergonomic information about effective joint protection and energy conservation strategies
  • Hand-care techniques including provision of hand exercise programmes, fabrication of custom made hand splints to aid daily tasks, pain management and hand positioning
  • Adaptive equipment from small aids to major adaptations for helping you at home or in your workplace
  • Signposting and referring on to agencies to help with the cost of purchasing daily living aids and adaptations
  • Information on employment legislation and your rights within the workplace
  • Graded return-to-work and remaining-in-work programmes
  • Care assessments for direct payments or home helps
  • Mental health-related referrals.

In the UK, OTs work in various settings including community teams, social services and hospitals. The health professionals involved in your care, including doctors, nurses and therapists, can refer you to an occupational therapist if this is required. You may also be able to self-refer to some therapy services – so it is always worth giving your local social services a call. They will explain the correct process for your area.

Some of the adapted changes in my own home include:

  • A wheelie tray to be able safely carry hot items from one place to another
  • A food workstation – which has adapted facilities such as a place to hold objects in order to be able to cut safely, a flat grater and slicer
  • Adapted knives – it has better grip and position to allow you to cut object safely
  • Special cutlery – a bevelled fork allows you to use one hand to both cut and eat
  • A bath board – to be able sit safely while in a bathtub

While you may feel helpless in the face of such an uphill battle, occupational therapists go a long way in assisting you to succeed.

Useful links:

  • Complete Care Shop – for adaptive equipment – there is VAT relief for those with HNPP
  • Living Made Easy – (NHS and OT recommended) price comparison site for adaptive equipment
  • AbilityNet – help the lives of disabled people by helping them to use digital technology at work, at home or in education
  • Naidex – disability information shows like Naidex are excellent for giving you an idea of what is available, but be warned, these shows are huge. Take advantage of their Shopmobility scooters, or you’ll never last the distance
  • Expo Database – trade conferences around the world that showcase the latest disability equipment.
HNPP · Mental Health

HNPP, depression and anxiety

Anxiety depression hereditary neuropathy hnpp

This is one of the more difficult subjects to tackle. It could partly be because some HNPP sufferers worry about coming forward due to the stigma of mental health, or feel they may be overreacting. But rest assured, it is absolutely natural and completely expected.

According to Scott Berman MD, Psychiatrist and neuropathy patient, there is a strong overlap between neuropathy pain, anxiety, and depression. In his book, Coping with Peripheral Neuropathy, Dr Berman says each of the components can raise the risk for having the other two. As much as 30 to 60 per cent of patients with chronic pain develop feelings of depression and anxiety, while pain and depression can co-occur 30 to 50 per cent of the time, and each can cause the other.

As a result, anxiety can cause several issues that may lead to the development of these neuropathic types of symptoms. Just a small sample includes:

  • Hyperventilation – common when you have anxiety, and when you hyperventilate your blood vessels constrict which takes away blood flow from some parts of your body. Without blood flow, these areas start to tingle, burn among others.
  • Nerve firings – anxiety could potentially cause the nerves to fire more, which can also lead to this feeling as though your nerves are always activated and cause “nerve damage-like symptoms” that can be hard to deal with.
  • Over-awareness – When you’re overly aware of your body, you can have trouble moving them leading to issues with gait (walking style) and how your body feels.

So it’s hardly any surprise that it becomes a vicious cycle, as you may have anxieties over fear of relapse or worsening, disability, isolation, stigma or even fear of further pain.

So how do you find ways of coping?

Everyone has different strategies in dealing with anxiety and stress, however, if you feel particularly stuck, these may be of benefit.

  • Speak to your medical practitioner or GP, and share your fears – don’t be alone with them
  • Speak to the groups and networks available. Please find them on the Resources page
  • Speak to friends and family if reasonably possible, they may not necessarily understand, but a listening ear is always useful
  • Mindfulness based stress reduction programs combines aspects of meditation and yoga. Many hospitals and complementary/alternative medicine centres use it
  • Spiritual and faith based help
  • Exercise, massage and yoga
  • Medication treatment
  • Breathe better – make sure you slow your breathing down considerably if you’re hyperventilating. Take as long as 5 seconds to breathe in, hold for 2 seconds, and breathe out for 7. Slowing down your breathing is very important for controlling anxiety.
  • Distract your mind – you need to distract your mind from focusing too heavily on your body, because only by doing that can your body’s movements feel more natural again.

What about depression?

Depression in neuropathy is often confused with the condition. That is, continued problems in function are often attributed to “psychological” or “psychosomatic” issues. Bottom line: all pain is real, and physical symptoms most often have physical causes. The role of the psychiatrist/psychologist/counsellor is to help with the emotional issues that arise from the stress of a medical disease.

Depression and chronic pain share some of the same neurotransmitters – brain chemicals that act as messengers travelling between nerves – as well as some of the same nerve pathways, and depression and pain can interact in a vicious cycle. Depression magnifies pain, changing the brain’s sensitivity to painful stimuli and reducing a person’s coping skills. And the constant stress of experiencing chronic pain can lead to a cascade of other medical problems linked with depression, making it still more difficult to break the cycle.

Read: Side effects of medication for HNPP

There are also known side effects from some medication for HNPP that is said to cause severe depression. In the report Depression and Attempted Suicide under Pregabalin Therapy from 2014, the authors say one of the rare side effects include suicidal thoughts. Pregabalin is a compound originally developed for treating epilepsy. Meanwhile, it has shown positive effects on neuropathic pain as well as on general anxiety disorder and is therefore largely prescribed by neurologists, psychiatrists and, of course, general practitioners.

An FDA warning concerning self-harm in patients taking antiepileptic drugs was released in 2008, yet a relevant risk for pregabalin is postulated to be less than 1 per cent. In the above report, a 20-year-old man was admitted to a psychiatric ward for severe depression and suicidal thoughts, although it was his first episode of a psychiatric disorder.

The authors add: “After the patient retrospectively clearly correlated the start of pregabalin therapy with the onset of his depressive symptoms during exploration on our ward, we immediately discontinued the drug. Consequently, he reported a rapid decline in depressive symptoms, his mood remained stable, and he was discharged.

“Taking into account that certain antiepileptic drugs have been shown to be protective for patients with bipolar disorder concerning suicidality, but hazardous for patients with monopolar depression, for example, there may be critical patient variables also for pregabalin which remain to be elucidated.”

So you may want to talk to your medical practitioner about changing your medications if this seems to be the case.

Some common signs of depression include:

How you might feel How you might behave
  • down, upset or tearful
  • restless, agitated or irritable
  • guilty, worthless and down on yourself
  • empty and numb
  • isolated and unable to relate to other people
  • finding no pleasure in life or things you usually enjoy
  • a sense of unreality
  • no self-confidence or self-esteem
  • hopeless and despairing
  • suicidal
  • avoiding social events and activities you usually enjoy
  • self-harming or suicidal behaviour
  • finding it difficult to speak or think clearly
  • losing interest in sex
  • difficulty in remembering or concentrating on things
  • using more tobacco, alcohol or other drugs than usual
  • difficulty sleeping, or sleeping too much
  • feeling tired all the time
  • no appetite and losing weight, or eating too much and gaining weight
  • physical aches and pains with no obvious physical cause
  • moving very slowly, or being restless and agitated

Source: Mind.org.uk

When it comes to neuropathy sleep changes, low energy, poor concentration is common. As the 2014 anxiety and depression study says: “Clinical observations and epidemiological studies show frequent association of chronic pain with psychiatric disorders, including a high prevalence of major depression among pain clinic patients and a high lifetime comorbidity between neuropathic pain and mood disorders.” Hence depression can be a major excess when dealing with chronic neuropathic pain and fatigue.

How to proactively deal with depression

Following are several steps to help proactively prevent or manage both the chronic pain and associated depression that may develop:

  • Early diagnosis of depression associated with pain – many physicians are not necessarily trained to assess for depression during the course of treating pain. Talking to a physician about symptoms of depression, while still in the acute pain phase of pain, can alert a physician to the need to consider treatment of both conditions. An informed physician can suggest a treatment plan early on that treats the patient’s depression as well as their physical pain, giving the patient the best chance at a positive outcome.
  • Communicate about depression – depression and an emotional reaction to chronic pain are to be expected; they are understandable. Many patients do not speak to their physicians about their depression because they believe that once the initial pain problem is resolved, the depression, anxiety, and stress they are feeling will go away. However, secondary losses from a chronic pain problem, such as the loss of the ability to do favourite activities, disrupted family relationships, financial stress, or the loss of a job, can continue to contribute to feelings of hopelessness and depression even beyond the resolution of the pain problem. Talking to a physician about feelings of depression will keep the physician better informed and better able to provide appropriate care. Depression can affect the frequency and intensity of pain symptoms, and the healing rate. Getting simultaneous back pain and depression treatment will give the patient a better chance of a full recovery.
  • Seek multi-disciplinary care for pain and depression – a multi-disciplinary course of treatment that involves involving both a physician and a mental health professional can often provide the best outcomes. With a team approach, both the pain problem and the depression are monitored simultaneously, and both doctors can communicate about how each area affects the other. It’s important for physicians to understand that changes in the physical symptoms of pain can also be related to changes in a patient’s mental state. In addition, it’s important to note that some common treatments for pain (e.g. opioid pain medication, activity restriction, bed rest), can actually make depression worse. This worsening depression can then affect the physical presentation of the pain. If both physical and mental well-being are being monitored closely by medical experts, treatment and medication recommendations, including antidepressants, can be made that take both the physical pain and the emotional health of the patient into account.

Depression and anxiety can be painful when you’re already dealing with a whole host of other symptoms. And it can spiral the more you feel the effects of HNPP. So it’s important to notice any changes and try to get help as soon as possible.

It can be difficult to pick up the phone, but reach out to somebody and let them know how you are feeling.

  • Samaritans (116 123) operates a 24-hour service available every day of the year. If you prefer to write down how you’re feeling, or if you’re worried about being overheard on the phone, you can email Samaritans at jo@samaritans.org.
  • Depression Alliance is a charity for people with depression. It doesn’t have a helpline, but offers a wide range of useful resources and links to other relevant information.
  • The National Suicide Prevention Lifeline is a 24-hour, toll-free, confidential suicide prevention hotline available to anyone in suicidal crisis or emotional distress. A 24-hour an Online Chat in partnership with Contact USA is also available.
  • Crisis Text Line is the only 24/7, nationwide crisis-intervention text-message hotline.
  • Samaritans is a registered charity aimed at providing emotional support to anyone in distress or at risk of suicide throughout the United States.

Read: How to cope with grief and loss with HNPP?