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.
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.
Please feel free to comment and give advice whenever you feel like it. (No trolls allowed).
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
Find the best solutions to allow you to live independently.
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
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.
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.
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
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.
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.
I also deal with depression, neuropathy, and am pre-diabetic. I have those days as well. *hugs*
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
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
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 email@example.com.
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.
It’s a fact that most people with HNPP know, but there are suggestions that certain exercises can actually do more damage than good. From walking to some types of yoga, while most forms of physical activity are encouraged by gym instructors, our bodies tend to rebel from the norm. But can exercise actually induce HNPP, even though it’s generally thought to be an hereditary condition?
As HNPP is an autosomal dominant disorder in which the condition is inherited and there is a deletion of one of the genes associated with PMP22, a child of an affected individual is at a 50 per cent risk of being affected by the condition. This suggests that the likelihood of a person developing HNPP out of nowhere is relatively low.
What are ‘sporadic’ cases of HNPP?
There have been recent reports that state that a few types of muscle training has actually brought about sporadic symptoms of HNPP without any previous familial history of the condition. Sporadic cases due to de novo deletion accounted for 21 per cent of the investigated HNPP families, as reported by some studies. De novo mutation is an alteration in a gene that is present for the first time in one family member as a result of a mutation in a germ cell of one of the parents or in the fertilised egg itself.
According to a 2017 study carried out by researchers at the Department of Neurology and Rheumatology, Shinshu University School of Medicine, Matsumoto, Japan, this apparently was the case in a 15-year-old boy. The authors suggest that this is the first instance of an adolescent “that developed neurological symptoms during muscle training in a school baseball club activity”, the first signs in a sporadic case of HNPP. The teenager developed bilateral painless brachial plexopathy through short-term barbell training and plank exercises.
“Patients sometimes show an atypical clinical phenotype, and a diagnosis of HNPP can therefore be challenging, especially in sporadic cases as in our patient.”
“Muscle Training-induced Bilateral Brachial Plexopathy in an Adolescent with Sporadic HNPP” – Kodaira, M., et al – July 2017
While brachial plexopathy can be a common feature of HNPP, bilateral involvement is thought to be unusual because HNPP is usually associated as a mononeuropathic condition, where there is a focus in only one area of nerves.
The authors in this case say: “As his clinical and NCS [nerve conduction study] findings indicated muscle training-induced bilateral brachial plexopathy in HNPP, genetic analysis for this disorder was performed, which revealed deletion of the PMP22 gene. Patients sometimes show an atypical clinical phenotype, and a diagnosis of HNPP can therefore be challenging, especially in sporadic cases as in our patient.”
The major difference in this occasion is that not only did he suffer from a bilateral injury, he also developed a sporadic case of HNPP triggered by relatively straightforward exercises. This is unlike some of the other examples where those in military training are far more likely to develop symptoms linked to HNPP, due to the strenuous physical activity undertaken by soldiers. However, this is not the first time ‘push ups’ are seen to be the main culprit as a trigger.
In another 2017 report A Case of HNPP due to Push-up Exercise, a 17-year-old man with no familial history of the condition developed “motor and sensory disturbance of the left upper limb a few days after starting push-up exercise”. Scientists from the Department of Neurology, Hirosaki University Graduate School of Medicine, say that the patient also developed brachial plexopathy, similar to the case above.
In the abstract, they conclude that: “Genetic tests revealed a diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP). HNPP should be included in the differential diagnosis for neuropathy due to slight exercise or nerve compression even when familial history is negative.”
Researchers from the Division of Neurology and the Department of Pathology, University of Missouri School of Medicine, Columbia, USA, found a case in 2004 akin to the above studies. A 21-year-old in good health began to develop symptoms of HNPP on her first day of military training. She began to show symptoms of severe pain, weakness, and atrophy in her right shoulder, foot and hands. Her mother and her family had no history of neuromuscular disease. She did not know her father or his family history.
They say: “While the presentation and severity of this patient’s condition may relate to a specific unknown genetic profile with very low PMP-22 mRNA levels, Schenone et al, in finding correlations between reduced PMP-22 mRNA levels and disease severity, also suggested that extrinsic factors—for example, level of physical activity, may be important in determining phenotypic features.
“This appears to be true of our patient—that she was neurologically normal, then developed symptoms on the first day of military physical training with progression as she continued the training over a three week period, suggests that disease severity and focal axonal damage were related to these intense activities.”
The authors add: “Additionally, as it has recently been recognised that sporadic cases of HNPP are common, either because of de novo mutations or asymptomatic carriers, her lack of family history did not preclude this diagnosis.”
How likely is it that a case of HNPP is sporadic?
It’s important to note that HNPP may not be easily traced in other family members, which means while it may appear sporadic, it could just have been overlooked. A 2013 case report reiterates this view, with authors saying that approximately one-third of deletion carriers are unambiguously detected on the basis of “electrophysiological criteria and confirmed by genetic analysis are asymptomatic and do not display significant signs at clinical examination.”
Researchers from Department of Paediatrics, Hospital de Guimarães, Portugal, say: “Thus, the family history is often uninformative, and a significant proportion of probands may be considered as apparently sporadic cases. However, a close questioning and examination of the relatives provided evidence for autosomal dominant inheritance in families that were originally stated by the probands to be normal. Therefore, HNPP can easily be overlooked in those cases in which familial involvement is not recognised unless intensive ascertainment techniques are used.”
Electrophysiologic studies are said to be “suggestive” and not “sufficient for diagnosis” which may be why it may be imperceptible to locate.
How exercise can trigger symptoms
The more frequent representations are in those who already have familial histories of HNPP, or in those who have already been diagnosed. In one such case in 2005, hiking and athletic training brought on the symptoms. A 10-year-old girl, who suffered from acute, recurrent monoplegic episodes affecting both the sciatic nerves and the left brachial
plexus since the age of 7, showed quite a lot extensive symptoms from relatively low impact exercise.
Authors from the Department of Paediatrics, Yokohama City University Medical Centre, Japan, say: “This school child having HNPP is considered to be susceptible to the influence of abundant physical training, rather than minor trauma or compression at sites of entrapment of peripheral nerves.” However, this is hardly surprising given the nature of the condition. What’s more unusual are the situations where HNPP is not present beforehand or without familial background.
It goes without saying, exercise can cause many types of injuries even for those without HNPP depending on how extreme it may be. And as we have seen above, there have been at least several cases of ‘sporadic’ HNPP, which develops without any prior history of symptoms or familial connection.
However, it may be worth noting that without the correct tests to detect hereditary links, these may be incorrectly termed as ‘sporadic’. That being said, there have been established reports that suggest at least 21 per cent of HNPP cases are de novo mutations, so it may not be out of the realms of possibility that certain types of exercise can induce symptoms of HNPP.
Having HNPP thankfully isn’t the end of the world, but it does make things rather difficult when it comes to relationships. This may not apply to you if like many of the individuals on the HNPP Facebook groups, are already happily or regularly married or in a relationship of any kind. But for those who are trying to balance both worlds, many become apprehensive of making another commitment, when all you’re trying to do is look after yourself. So how do you manage?
Relationships are always work. Add significant stress to the situation and they’re extra work. And HNPP falls under the “stress” umbrella, which tends to add complications to every stage of a relationship, just as it gets in the way of everything else.
For sure! Legit, dating w chronic illness is hard so just find things you enjoy and don't exhaust you and have fun!!😘
Dr. Morwenna Opie, a Clinical Psychologist who works at the Nightingale Hospital in London, UK, says that “healthy” relationships are important. Dr. Opie, who has been diagnosed with POTS secondary to Sjögren’s Syndrome, states: “Healthy, supportive, and fun relationships can be our greatest asset in shaping a happy and fulfilling life, and this is especially the case when opportunities for physical activity are more limited.”
However, she adds a warning to this statement: “maintaining unhealthy relationships can be more toxic to our health as those chocolate binges or caffeine or whatever else we might have resolved to do away with this month. The evidence continues to accrue demonstrating that social stressors and anxiety takes their toll on our immunological functioning, and all aspects of our physiology, with the potential to cause a vicious cycle of deteriorating physical and mental health – and relationships.”
Getting back into dating after having gone through a lot of chronic illness treatment and it's not easy. 1/n
The most important relationships she says are friendships which require constant maintenance just like any other kind of connections, which is the first step ahead of dating. Think of it as the steps to rehabilitation. Unlike trying to stay sober, your priority is first to yourself and maintaining the connections you already have. Hence, just like in Alcoholics Anonymous, it is recommended that people who are still within the first year of their recovery should avoid beginning romantic relationships.
The first few months of recovery are often described as an emotional rollercoaster because there is so much going on. The last thing that an individual will want to do will be to add the stress of a new relationship to the mix. It is going to take all your attention to make it through this early part of recovery. It’s also important for you to come to terms with yourself during this time.
As a result, the worry for many trying to date for the first time after a diagnosis is seeing yourself differently, acceptance from the other person, and generally managing the symptoms on a day-to-day basis. Therefore, there are several questions you need to ask before making that leap.
Are you in a position to date?
Your symptoms are manageable – it may seem obvious but being bedbound or homebound will clearly present its own problems. Unfortunately, this alone may take you out of the game since your symptoms may require you to stay at home, sometimes out of commission entirely.
Coming to terms with the condition – if you’ve only recently been diagnosed and haven’t yet worked through the five stages of grief, you’re not in a position to start dating. You’re only ready once you’ve learned to accept your illness and begun to feel at ease with yourself.
You have a life outside your condition – if your chronic illness defines you instead of just representing one part of you, don’t think about dating. Even if you can no longer hold a regular job, you must have something going on in your life to attract a potential partner. This is where hobbies are useful.
What to look for in a partner
You’re ready to jump into the crazy world of dating, so now what? Well, before filling up your calendar with potential male or female suitors, you should have a clear idea of the type of qualities to look for in a mate. Best to look for a partner and not a caregiver:
Your date should be:
Accepting – they understand your limitations and doesn’t try to convince you otherwise.
Adaptable – they try to find activities both of you can enjoy and doesn’t get upset when you’re forced to cancel at the last minute.
Dependable – they are there for you when your illness becomes too much to handle on your own.
Humorous – they try to make you laugh during tough times (and good times!)
Respectful – they treat you well and admire your courage without “babying” you.
Supportive – they ask questions about your illness and strive to learn more about it.
Responsible – they are careful with money especially when factoring in costs to treat your illness.
When should you reveal your condition?
Dr. Gail Saltz, M.D., a renowned psychoanalyst, columnist, bestselling author, says: “In the dating world, it’s really about when you choose to discuss the topic of illness. It’s important to be thoughtful about when might be the best time; not disclosing this part of yourself too early or waiting too long.”
One of the biggest challenges about dating when you have a chronic illness is trying to figure out when to tell the person you’re dating about your disease. Some people will tell you that you have to wait until things are more serious between you two before the big reveal about your illness.
Dating with a chronic illness sucks. I never know what to say or when to say it.
Other people will tell you it’s absolutely mandatory to inform them up front, because they should understand that dating you might have some challenges so they can decide if those challenges outweigh the awesome privilege of getting to be with you. There is no exact science to it.
The most important part is to not feel obligated to share such a sensitive and personal part of your life if you’re not ready yet. Let your illness come up naturally (well, as natural as a discussion about a chronic illness can be anyway) and when you feel comfortable.
Ken Robbins, MD, a clinical professor of psychiatry at the University of Wisconsin–Madison says that if you’re especially worried that your health secret “is likely to define you before the person has gotten a chance to know you at all”, then don’t mention it on the first date.
“I don’t talk about my illness on a first date. I may mention why I don’t eat gluten or, “Yeah, I have a bum knee so I can’t run! It sucks!” But I don’t dive into details.”
“How I Learned to Date With a Chronic Illness” – Jacqueline Raposo, Cosmopolitan
But there’s one exception and that’s if personal information about you living with a chronic illness is already out on the internet. In this case, you may want to tell your date sooner than later because there’s a good chance they have Googled your name and found out about you.
How should you reveal it?
Unfortunately, there’s no easy way to tell your date about your chronic illness. Here are some tips to revealing information:
Practice what you’re going to say – rehearse your speech with a trusted friend or visit a therapist to talk it through, suggests Dr. Robbins. He adds: “Its good to have somebody as a sounding board in a situation like this,” he says. “How you handle this is not something your partner is likely to forget.”
Be casual but confident – creating a conversation bridge or segue will be useful such as, “I feel like were heading in a great direction, so I wanted to tell you something.” Just don’t overdo it: “You don’t want to frame this in a way that ends up making a bigger deal of something you don’t want made into a big deal,” Dr. Robbins says. In other words, make your delivery as drama free as possible.
Seeking out relationships online – if you tend to meet potential partners through online networks such as Facebook or Match.com, you shouldn’t hint in your profile that you’re concealing a health secret. However, if you’re nervous about rejection or misunderstandings, you might be more comfortable dating someone with similar health issues. Just make sure you’re in the right frame of mind for this, and be prepared for rejections. There are many niche sites that cater to people with specific conditions, and they’re a great way to be up-front with potential mates who are in the same boat:
Know when to give your partner space – Rachel A. Sussman, LCSW, a New York City therapist and relationship expert, says it’s possible that there could be an awkward moment. “[If that happens], say, ‘I can tell by your expression that this is a lot to digest and I completely understand, and Ill give you the time and space to do that,” she says. Then, offer some physical distance but stay in contact.
Don’t take rejection personally – “A good person will listen and be kind and not judge, but if [your health secret is] something they cant live with, that doesn’t make them a bad person,” says Sussman. “It just makes them a bad match.” And there can be multiple reasons for a rejection – many of which have nothing to do with you at all. If things were going well up until the time you told them, keep in mind that they rejected your health condition, not you. At the end of the day, it means that they were not the one.
Dating with chronic illness is hard for sure, and there are times when you may feel undateable. Self-care should still be your number-one priority. But there are many things you can offer your dates because you’re much more than your illness.
You could be a great listener, a deep empath, an entertaining storyteller. Sometimes dating is a great way to get yourself out of your head and out of bed, even when the latter seems impossible or undesirable at best.
In the words of Deepak Chopra:
“To value yourself is to love yourself. It is really from here that your love for others comes. If you value yourself a great deal, you actually have something to give to others.”
The fastest way to love and connection is to show the other person who you are right now, in this imperfect moment.
There can be a lot of worry and anxiety that arises during pregnancy, one of which includes what to expect, especially with HNPP. Many can have a more or less seamless experience while others find that their symptoms are exacerbated during this time. So what is the ‘norm’ of HNPP during pregnancy?
“In my 30’s during pregnancy, I had sciatica because I had enormous babies resting on my spine. Bladder too, but peeing my pants when I sneezed or laughed – seemed like something that just happens to pregnant women.”
First of all, HNPP does not affect the fetus or the pregnancy itself thankfully. However, during pregnancy, symptoms that manifest due to HNPP such as palsies, sciatica, or pain in the lumbar region, may be heightened as a result of added pressure on the body.
Disclaimer: Please ask your medical practitioner for more information. This article is based on various research, journals and testimonies.
How does HNPP manifest during pregnancy?
According to Dr. Rakesh B Vadhera, an obstetrics anaesthesiology consultant and professor at the University of Texas, alongside Dr. Michelle Simon, a paediatrician and neuropathology expert, peripheral entrapment neuropathies are common during pregnancy and may lead to “severe discomfort”.
Writing in the book Maternal Medicine published in 2015, Dr. Vadhera and Dr. Simon state: “Pregnancy itself may predispose patients to some of these entrapment neuropathies, which are mostly benign in their evolution and prognosis and will resolve spontaneously in the postpartum period.” This appears to be good news for expecting mothers concerned that the symptoms may not disappear after the birth of the child. For all that however, there have been cases of symptoms lingering postpartum.
They add: “Delivery may predispose patients to compression or stretching of some nerves and plexuses that may precipitate symptoms. Prompt clinical evaluation and, when necessary, an electrophysiologic evaluation may aid in the diagnosis and subsequent management.” As briefly mentioned in the article Is surgery worth it with HNPP?, it’s vital to let your medical team know how to make you comfortable during this time as well as through labour, to avoid further nerve-related damage. This is addressed in more detail below.
What symptoms to expect when you’re expecting
In some extreme cases of Charcot Marie-tooth-related disorders, the obstetricians above say pregnancy can affect respiratory muscles and thoracic vertebral anatomy, “impacting patient respiratory function during pregnancy and affecting delivery and anesthetic care”. But this may be evident during the third trimester when there is added strain on the body, and therefore you may have enough warning to consult a health professional beforehand.
Author Dr. Pierre Bouche, based in the Department of Clinical Neurophysiology, Salpêtrière Hospital, Paris, France, says that in some neuromuscular disorders, carpel tunnel syndrome (CTS) could also manifest during pregnancy.
In the edition Peripheral Nerve Disorders as part of the Handbook of Clinical Neurology, Dr. Bouche states: “[Carpal tunnel syndrome] can develop at any time in pregnancy, but it is most frequent during the third trimester and may be due to fluid retention exerting pressure on the median nerve.” However, this can vary from person to person depending on how sensitive the nerves are around the wrist and upper arm.
Other areas that may be affected can also differ. Authors of the medical reference guide Obstetric Anesthesia and Uncommon Disorders, 2008, reiterate that HNPP may exacerbate neuropathies associated with pregnancy and delivery. They say HNPP symptoms such as “lumbosacral plexus, femoral, lateral femoral cutaneous, obturator or peroneal nerve palsies” may be aggravated during this time.
But that’s just some of the ways the symptoms may manifest. There are some mothers featured in the Facebook HNPP groups, who have spoken about pain in the ribs, loss of functionality in the legs, arm and leg aches, and the list goes on. On the other hand, there are others who faced symptoms no worse than pre-pregnancy.
How to prepare for labour and delivery
Similar to the diverse responses on how mothers are affected during pregnancy, the same is apparent with the delivery itself. Some mothers elect to have a natural birth, while others require or request cesareans. Using gas, on the other hand, may pose a risk as it is considered a neurotoxin. There have been reports of “heightened pain” with gas according to some users in the HNPP support networks.
“I was 33 when I had the epidural – which triggered my chronic neuropathic pain. The majority of my pain, travelling along the entire right side of my body. Strongest in all the places I had experienced pain during my life. It was like it was the “Red Button” got pushed and a bomb exploded in my Central Nervous System.”
Consult with a neurologist and anaesthesiologist in the antenatal period
Assess neurological status antepartum
Avoid prolonged immobilisation in labour
Avoid instrumental delivery
Avoid dense epidural blockage
Consider operative delivery if a pressure palsy develops during labour
If a cesarean section is selected, HNPP.org gives the following advice to the surgical team:
Position arms out to sides. An angle of less than a 90 degree angle will help to alleviate stretch on the brachial plexus (shoulder area).
Move arms (supinate/pronate) every 15 minutes while under general anaesthesia.
Pad arms and legs/feet in stirrups. As a general rule: pad everything. The need to pad arms and legs is dependent upon the individual patient (frequency and severity of palsies). One inch foam or similar type material is usually sufficient.
If possible avoid leaning against the patient, especially against the arms and legs.
Tape endotracheal tube more centrally so that the tube is fully supported by the tape and not at all by the mouth. Tape other tubing in a similar manner as appropriate. Consider positioning while awake.
In order not to mask any developing neuropathy, anything but the mildest block for postoperative pain should be avoided.
Both Dr. Lepski and Dr. Alderson say that the “Labour progressed uneventfully and there were no neurological sequelae following delivery”.
Be watchful for patient position that contributes to nerve compression, particularly with neuraxial blockade.
Avoid prolonged use of the lithotomy position; regularly reduce hip flexion and abduction.
Avoid prolonged positioning that may cause compression of the sciatic or peroneal nerve.
Place the hip wedge under the bony pelvis rather than the buttock.
Use low-dose local anaesthetic / opioid combinations during labour to minimise numbness and allow maximum mobility.
Encourage the parturient to change position regularly.
Ensure that those caring for women receiving low-dose local anaesthetic / opioid combinations understand that numbness or weakness may be signs of nerve compression; such symptoms should prompt and immediate change of position.
They say: “For the first delivery, epidural analgesia was performed for labour pain control but a caesarean section was necessary because of failure to progress (0.0625% bupivacaine with 0,2 μg/ml sufentanil for labour then 2% lidocaine with adrenaline for surgery).
“Two years later, the patient was again seen for a preanaesthetic visit because elective Caesarean section was planned. Spinal anaesthesia using hyperbaric bupivacaine and sufentanil was used. Both deliveries were uneventful”. Uneventful being the operative word.
It is essential to get the right advice while pregnant as well as during childbirth itself, and also on how to manage any symptoms that appear postpartum. Creating a birthing plan will therefore be necessary to avoid any extra issues. That being said, symptoms fluctuate from person to person, which means you may be fortunate enough to have hardly any bumps in the road.
When your face unexpectedly becomes numb, or begins to spasm, many HNPP sufferers do wonder what godforsaken cause could be behind it. Yet, it isn’t as uncommon as many may believe. Health professionals say that facial issues tend not to be associated with the condition, hence multitudes have been diagnosed with Bell’s Palsy instead.
What is Bell’s Palsy?
Bell’s palsy, or idiopathic facial paralysis (IFP), is the most common cause of unilateral, lower motor facial palsy. It’s origins remain uncertain. However, the first familial occurrence was found in 1887, hence hereditary factors have been considered to play a role in the etiology of the disease. It is believed to occur when the nerve that controls the muscles in your face becomes compressed and IFP is generally linked to inflammation or viral infections.
“In the last year and a half I have been dealing with one sided facial pain and numbness. It has evolved into a burning that sequentially involves the tongue, then lips, then cheek, then eye, then ear and finally throat all on the left side. It waxes and wanes and seems to do so based on my stress levels. I have had CT and MRI, normal; as well as a battery of blood tests, normal; seen a neurologist who said I’m fine (ahem!) and an ear nose and throat doc who says I have non-motor Bell’s Palsy (my research indicates there is no such thing).”
It’s obvious that there could be secondary condition causing facial issues, but several members of various HNPP groups have spoken about pain, weakness numbness, and spasms associated with the head and face.
Scientists have been studying the link between IFP and HNPP in order to get a better understanding of both causes. A letter in the Journal of Clinical Neuroscience in 2013 shows how the two conditions are not connected. Researchers at the Department of Neurology, Eginition Hospital, in Athens, Greece, hypothesised that a handful of participants in a study for Bell’s Palsy could have the same mutation for HNPP.
They say: “There are a few case reports of patients belonging to these subcategories of Bell’s palsy, on whom the characteristic deletion of a 1.5-Mb region on chromosome 17q11.2-12 which includes the peripheral myelin protein 22 (PMP22) gene, was detected.”
Out of a 145 unrelated Greek patients with Bell’s palsy, 28 patients with recurrent facial palsy and 18 patients with familial facial palsy were tested for a deletion of the PMP22 gene. However, none of the participants had this mutation.
“These cases could be part of a diverse spectrum of miscellaneous disorders including HNPP.”
“Is there a common genetic background?” Karadima, G. et al, 2013
They conclude: “Bell’s palsy seems to have a different etiology than HNPP. The same applies to familial or recurrent Bell’s palsy. A molecular genetic investigation for HNPP seems to be indicated in cases of recurrent or familial facial palsy accompanied by peripheral nervous system damage or exhibiting a family history of peripheral neuropathy. These cases could be part of a diverse spectrum of miscellaneous disorders including HNPP.”
This is reiterated in the 2009 case report Familial Recurrent Bell’s palsy conducted by researchers from the Department of Neurology, Zhejiang University, Hangzhou, China. Three families in which eight patients had a total of 12 episodes of typical Bell’s palsy were recorded in a bid to find the etiology of the condition.
In spite of this, the researchers infer: “Recurrent facial palsy can occur in neurological disorders such as Melkersson-Rosenthal syndrome (MRS), Moebius syndrome, Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsy (HNPP). These conditions however, have additional features that distinguish them from idiopathic familials Bell’s palsy. None of our patients have any symptoms indicative of such diseases.”
So what’s the reasons behind facial numbness?
There are several possible causes of facial numbness, also known as hypesthesia. Most of these causes can be traced to a problem in or affecting the trigeminal nerve.
It is one of twelve cranial nerves and is one of the most widely distributed nerves in the head. The cranial nerves can be categorised as two main nerve types: those that control motor responses such as blinking, chewing, or eye muscle movement, and those that respond to the sensations of taste, smell, hearing, and touch.
The trigeminal nerve has three branches, which controls both the sense of touch in areas in the face as well as the motor function associated with chewing. Damage to this nerve could, therefore, make chewing difficult, if not impossible. Some sufferers of face numbness also experience numb lips. Or it could create either a ‘pins and needles’ sensation or a loss of feeling in parts of the face. Of the twelve facial nerves, it is usually considered number five. Other parts affected include:
Olfactory nerve (number 1) – relays the sense of smell to the brain.
Oculomotor nerve (number 3) – controls the external muscles of the eye.
Facial nerve (number 7) – controls the muscles used in facial expressions and should not be confused with the trigeminal nerve, despite its name. It does not relay a sense of touch.
Auditory nerve (number 8) – controls balance and hearing.
While most of these are connected with the central nervous system, and HNPP is yet to have established links to the CNS, there have been cases where some with the condition have had issues with this particular nerve.
According to a 2015 study carried out by Japanese researchers from Department of Neurology, Osaka Red Cross Hospital, Osaka, there were two cases with cranial involvement without progressive muscular atrophy (PMA). They state: “a 40-year-old female case of HNPP with the involvement of the trigeminal, facial and hypoglossal nerves, and a case of 7-year-old boy having a homozygous deletion of PMP22, who had the LMN [lower motor neuron] impairment in the cranial nerves of VII and III, sensory disturbance in extremities.”
Like many other publications, the researchers state that because of limited studies, “additional investigations are warranted to better understand PMP22 regulation in the CNS and the peripheral nervous system”.
The rarity of such finding is highlighted in a Brazilian study from the Department of Neuroscience at the University of São Paulo. In the 2016 study Clinical and Neurophysiological Features of HNPP, 39 patients were reviewed for neurological symptoms while 33 were given nerve conduction tests. Only one presented cranial nerve related symptoms in terms of “involvement of the trigeminal nerve and other one an episodic involvement of the eyelid branch of the oculomotor nerve”.
They go on to restate: “Cranial nerve involvement was rare in our population […] It seems that this is the pattern in most studies Interestingly, we have previously described a HNPP patient that developed dysphagia. Other rare manifestations in our patients were pes cavus and nerve thickening, as seems to be the case in most studies.”
In the 2006 book Differential Diagnosis in Neurology by Robert J. Schwartzman, MD, the Professor of Neurology documents daily morning reports with neurology residents and the examination of patients in front of colleagues over the last 30 years. The Emeritus Professor of Neurology at the Drexel University College of Medicine in Philadelphia, recounts that “facial nerve involvement occurs rarely” with HNPP.
Therefore, it’s important to realise the symptoms instead of the condition as knowing that it is HNPP, or in this case, may not be HNPP-related, does not change the fact that these symptoms are manifesting.
For many with facial issues, including those suffering from HNPP, it’s vital to get it checked by a medical professional as it could be associated with another underlying or even acute disorder. In many situations, doctors may dismiss it as HNPP and then resort to medication associated with the inherited disorder, because they aren’t certain of what it may be, which is where your persistence to get the correct treatment will be absolutely key.
One of the first responses that seems to appear on search engines about Hereditary Neuropathy with Liability to Pressure Palsies is its relation to the inherited condition Charcot Marie-tooth syndrome (group of disorders). While CMT1A – a subtype of the CMT – is thought to be the most common inherited neuropathic condition, little research is still available to its ‘sister’ condition HNPP. So how do the conditions diverge and converge?
The irony of the conditions being similar in nature, is the fact HNPP is the genetic opposite of CMT1A. HNPP is associated with a deletion on the same chromosomal site where CMT1A (the most common type of CMT) has been found to have a duplication, and it contains an important myelin gene, peripheral myelin protein-22 gene (PMP22).
The chromosome in question is chromosome 17, where CMT1A has an extra copy of PMP22, and HNPP results from the loss of a copy of PMP22. The PMP22 gene encodes for peripheral myelin protein, and disruption of this gene leads to a dysfunctional myelin sheath on nerves.
What is a chromosome?
Going back a step and remembering the old science lessons from school, a cell’s nucleus contains chromosomes – rod shaped bodies found in the nucleus of cells that contain genetic information in the form of DNA.
DNA (deoxyribose nucleic acid) is made up of short sections of genes – inherited from parents, and makes up DNA which controls part of a cell’s chemistry, particularly protein production. Each gene codes for a specific protein by specifying the order in which amino acids must be joined together.
In total, humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 17, one copy inherited from each parent, form one of the pairs. In one of the arms of the chromosome 17 (if you think about it as an ‘X’ type shape), specifically the ‘P-arm’ lies the gene PMP22 labelled as 17p11.2, which is the area where it resides. The genetic defect in most HNPP patients is a 1.5 Mb deletion (used to describe the length of a DNA/RNA molecule) on this chromosome containing the PMP22 gene.
HNPP is usually caused by an autosomal dominant gene, which means one parent must be affected. While there should be two copies of the PMP22 gene, there usually is only one or some form of mutation, unlike with CMT1A which tends to be a duplication of the gene. As a result, HNPP and CMT tend to be lumped together under one category and while there may be an overlap, there are other forms of CMT and HNPP that do not follow this rule.
The result of this is that the symptoms of each condition resemble one another because they both end up becoming a form of demyelinating neuropathy.
Rare forms of HNPP
Point mutations in the PMP22 gene are a rare cause of HNPP. In one case, a novel PMP22 splice site mutation – a genetic mutation that inserts, deletes or changes a number of nucleotides in the specific site – was reported in an HNPP family. Nucleotides are organic molecules that form DNA and RNA (ribonucleic acid, which is an important molecule with long chains of nucleotides).
According to a 2006 study, a mutation at nucleotide c.179+1 was found in the PMP22 gene. This mutation causes the synthesis of an abnormal mRNA. Messenger RNA (mRNA), are molecules in cells that carries codes from the DNA in the nucleus to the sites of protein synthesis in the cytoplasm (the ribosomes).
Point mutations of PMP22 gene cause a wide variety of demyelinating neuropathies including HNPP, Charcot‐Marie‐Tooth disease type 1A (CMT1A), Dejerine‐Sottas syndrome (DSS), and congenital hypomyelination (CH). Authors of the 2006 study say: “To date, 11 mutations have been reported in HNPP patients and all of them are likely to cause a loss of function of the protein.” An earlier 2003 report suggested there were “fewer than 10 point mutations of the PMP22 gene” associated with HNPP.
Rare forms of CMT
CMT1B is the second most common subtype of CMT1. CMT1B is caused by a defect within the MPZ gene, which lies on chromosome 1. The MPZ gene produces myelin protein zero, and disruption of this gene also causes deficits within the myelin sheath. CMT1B patients have onset and symptoms similar to those of CMT1A patients, although there is a wide range of variability within CMT1B. As discussed in the article When HNPP ‘Causes Breathing Problems’, the MPZ gene is known to be associated with respiratory issues which is less common with HNPP.
Similar to point mutations in HNPP, instead of having a duplication of the normal PMP22 gene, CMT1E patients harbour different genetic abnormalities in the PMP22 gene.
CMTX is caused by mutations in the gene for connexin 32, which normally codes for a protein located in myelin, the insulating sheath that surrounds nerve fibres. It has many of the same symptoms of CMT1 and CMT2, including muscle weakness and atrophy, and changes in sensation, mostly in the feet, lower legs, hands and forearms. However, because of its linkage to the X chromosome, CMTX often affects males more severely than females.
CMT Type 2 (CMT2) is a subtype of CMT that is similar to CMT1 but is less common. It is typically autosomal dominant, but in some cases can be recessive. CMT2 is caused by direct damage to the nerve axon itself in comparison to CMT1 which results from damage to the myelin sheath insulating the axon. CMT2 is commonly referred to as “axonal” CMT.
CMT2A is the most common subtype of CMT2 and is caused by defects in the MFN2 gene. The MFN2 gene encodes for Mitofusin 2, which is a protein involved in the fusion of cellular mitochondria. Other more rare forms of CMT2 and their gene defects include:
CMT2B is caused by defects in the RAB7 gene.
CMT2C is caused by defects in the TRPV4 gene.
CMT2D is caused by defects in the GARS gene.
CMT2E is caused by defects in the NEFL gene.
CMT4 is a rare subtype of CMT that is inherited in an autosomal recessive pattern. Generally, cases of CMT4 present with more severe symptoms compared to CMT1 or CMT2. In general, CMT4 is caused by defects in the myelin sheath which insulates the axon. However, other variations include:
CMT4A is caused by defects in the GDAP1 gene.
CMT4B is caused by defects in the genes MTMR2 (CMT4B1), or MTMR13 (CMT4B2).
Asked about the similarities of Chronic inflammatory demyelinating polyneuropathy with HNPP and CMT, the symptoms that manifest seem to overlap with HNPP and CMT. However, the major difference is the fact that it is not an inherited condition, but a neurological disorder that causes progressive weakness and impaired sensory function in the legs and arms. No clear genetic predisposition or other predisposing factors for CIDP have been identified.
CIDP is thought to be caused by the immune system mistakenly attacking and damaging the myelin sheath of the peripheral nerves hence the symptoms may appear to be similar to HNPP and CMT. It is said that many people with CMT are initially diagnosed with CIDP due to these symptoms.
After that short science lesson, it’s clear to see how easily one condition can be mistakenly diagnosed for another. The symptoms tend to overlap with one another because the end result can include damage to the myelin sheath and neuropathic tendencies. As a result, it requires careful analysis by health professionals, and the necessity that all essential medical tests are undertaken to get the correct answers.
There are days where you don’t have the time, energy, let alone the funds to help yourself. And as a result reaching out can be a lot of effort. So with that in mind, how do you socialise without leaving the house?
For many people, social networks are a place for idle chatter about what they made for dinner or sharing cute pictures of their pets. But for people living with chronic diseases or disabilities, they play a more vital role.
According research conducted by the University of Warwick, chronically sick people do not have lower rates of social participation per se. However, the pattern of social participation exhibited by people affected by chronic illness varies from the one exhibited by people not affected.
“If they can break free from the anchors holding them down, people living with chronic disease who go online are finding resources that are more useful than the rest of the population.”
Susannah Fox, associate director of digital strategy – Pew Internet and American Life Project
Across all types of chronic illness the pattern of activities in which people affected by chronic illness engage in is very similar, therefore when it comes to social participation, the decisive point is whether one is affected or not by chronic illness and how it may emotionally affect people suffering from HNPP.
One of the most telling things you will find is the absence of resources devoted to help those battling with illnesses to actually make this leap. Instead, there is a wealth of literature pointing to the fact that lack of social interaction is actually a problem.
What technology is out there?
We are fortunate however, to live in an age where social networks make it easy to reach out to others. These are especially helpful when illness and pain prevent us from leaving our homes.
Many different e-social activities, including email and instant messaging, give you an opportunity to stay connected daily. It does not matter whether you are reaching out to friends, family, or online acquaintances; the important thing is that you are connecting and not struggling alone.
So without further ado, here are a few apps, gifts and devices that you can use without leaving your sofa:
Vent App – currently available on both iOS and Android, it does exactly what its name implies: it lets you vent. And the best part is that your contacts list stays out of the picture – you’re sharing with random users who stumble upon your posts, and your profile can remain as anonymous as you like. The purpose of venting is to air your issues so you can move on and calm down, and this app is an effective way to virtually get something off your chest. And when many social apps require plenty of your friends to be signed up in order to get the best experience, Vent’s a refreshing take on anonymity.
ReachOut – a support network app for patients and caregivers fighting chronic conditions. By connecting with other patients with similar ailments in specific support groups, users are able to find support, gain self-confidence, develop better coping skills and reduce loneliness and depression.
Rabbit– Rabbit is about sharing your everyday. Watch your favourite shows with your friends, without being in the same room or even the same city. Collaborate with your coworkers when you’re all on the road. The possibilities are endless. It is one of the most well-rounded stream-sharing services available, partially because it can be used with any browser and partially because you can share all your favourite streaming services including Netflix, Hulu, Crackle and more. Rabbit requires you to have an account and add the people you want to share a stream with as your friends. It works by having one person in control of the stream, which is shared via a proxy browser right on the Rabbit website. This means you’re essentially sharing the view of a full browser with everyone in your party, and you can go anywhere on the web that you like.
Spoonie Living– this app is geared for the creative types, and likely be more applicable for the younger generation. It was created as part of a PhD project, to see if the use of illness and dietary related stickers would help individuals creatively express themselves in a slightly different way to general Meme images found on the internet. It is hoped that using stickers will help towards people creatively managing their illnesses on a daily basis.
Facebook Groups – this goes without saying. Finding people with the same condition can literally be a lifesaver when you feel that no one seems to understand you, or you have no one to speak to about the condition.
HNPP Australia – there are some offshoot Facebook groups divided into specific regions
Google Voice-to-Text – for those with hand issues, Google’s speech-to-text recognition supports 119 language varieties for users who want to dictate a message to their phone, which Google claims is three times faster than typing. To access the voice typing function, install Gboard for Android or iOS and pick your language by pressing the G, then selecting the settings wheel. For voice search, use the Google app and pick your language in the voice settings menu. Certain phones have this in-built so you can access Google Voice input in your settings. It will save you time and effort when trying to get in contact with people.
CatchMyPain– an intelligent pain diary app that helps you keep track of your pain and connect with similar patients. It is one of the most well-known pain apps not only for its helpful features but also for the way in which it builds community. With this pain app, patients can locate their pain on their body; track stress, fatigue, and mood; and connect with their physician, all through the app. CatchMyPain also has a forum feature that connects chronic pain patients to each other.
Diseasemaps– this website connects people who are suffering from different conditions to help them find suggestions from others who also suffer; to make their lives better. You can also find people suffering from the same conditions or even symptoms from across the globe or even in your own city.
Patient networking sites – people fighting chronic illnesses are less likely than others to have internet access, but once online they are more likely to blog or participate in online discussions about health problems, according to a report released by the Pew Internet and American Life Project and the California HealthCare Foundation. Social networking sites include:
Spoonie Squares– Sophie Bull, a fellow ‘spoonie’ decided to knit squares as an alternative to expensive Spoonie boxes. These are just basic little squares of any colour people ask for and she says she’ll ship them to people for free. No cost on postage or material. She’s encouraging people to join so others can help out and pay it forward. It’s a sweet little community attempting to make a difference.
Obviously joining real support groups and taking part in the real world is the best way of not becoming isolated. And while it is important to have a network of people to relate to, there will be times when life requires you to be alone or when you simply want to be alone.
The point is to strike the right balance and not allow isolation to take over your life. Get out there in the real world or utilise the internet. Reach out to friends, loved ones, and acquaintances, or try and meet some new friends. You should also enjoy your alone time when it is needed.
Four weeks of having hot flushes made me wonder if I was getting my menopause 20 years too early. Or whether it could be related to medications. An even more plausible explanation could be that our internal temperature gauge may be functioning improperly with HNPP. So how sensitive are our bodies to hot and cold?
Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound. Damage to the peripheral nerves can result in loss of sensation as well as wasting (atrophy) of muscles in the feet, legs, and hands.
In spite of this, the control of body temperature takes place in the central nervous system at different levels, from the spinal cord to the upper parts of the brain. According to the 1996 report The Autonomic Nervous System and Body Temperature by R. H. Johnson, the maintenance of body temperature depends upon a balance between heat loss and heat production. The mechanisms by which heat loss and production are regulated are very similar; each may be regulated in two ways:
By reflexes from peripheral temperature receptors in the skin: the reflex pathway probably passes through the brain and its activity may be determined by the level of central temperature.
By means of receptors within the brain which respond to changes in blood temperature. 
However, instead of feeling the extremes of hot and cold due to autonomic neuropathy, studies suggest that we’re more likely to feel nothing at all. HNPP’ers on the other hand have spoken about becoming particularly sensitive to the weather.
“It’s been cold this week, I’m now sporting three pairs of socks and my feet still feel cold! I don’t think it’s to do with circulation, more misfiring nerve-endings, which just scream ‘cold’. The odd thing is though is that I’ve been getting burning sensations in my feet… burning cold.”
The idea of loss of sensation can be seen in PMP22 Mutation Causes Partial Loss of Function and HNPP-like Neuropathy. Both a 35-year-old man and woman complained of a “decrease in pain and temperature sensation”. The authors say in these cases “heterozygous T118M mutations mildly disrupt myelin to an extent that mild symptoms are likely to develop; homozygous mutations more severely disrupt peripheral nerve and disable patients”. But this appears only in this kind of specific mutation.
According to the 1997 study Hereditary Thermosensitive Neuropathy: An Autosomal Dominant Disorder of the Peripheral Nervous System, both Charcot Marie-Tooth disorder and HNPP had no links to this condition. HTN is also autosomal and inherited, with patients suffering from body temperatures of over 38.5 C.
The reason the authors give for it being unrelated was: “We excluded loci causing other hereditary demyelinating neuropathies, such as Charcot-Marie-Tooth disease type I (CMT type I) and hereditary neuropathy with liability to pressure palsies (HNPP), by linkage analysis; thus, HTN is not allelic to either CMT type I or to HNPP.”
I have charcot-Marie-tooth and the heat is great for me. In the cold my fingers don't work!.
This is reiterated in the book Peripheral Neuropathy in Childhood in which the authors Robert A. Ouvrier, J. G. Mcleod, and J. D. Pollard mention the above study adding that Hereditary sensory and motor neuropathy (HSMN) was also excluded from the research. That being said, there is very little research into this condition, with many journals relying simply on the 1997 report.
Why temperature is seen to be connected
Interestingly, the report by R. H. Johnson as mentioned above, does put a small disclaimer about body temperature being controlled by the central nervous system, saying: “Strictly speaking heat production by shivering is mediated by motor nerves but is included so that temperature regulation may be kept in proportion.”
He goes on to say that there is a combination of peripheral nerve issues as well as the central nervous system that causes problems with temperature: “The abnormalities of temperature regulation occur with failure of peripheral effector structures, alteration of function of central controlling structures or with lesions of interconnecting nerves.”
Why temperature in HNPP is seen to unrelated
This can be seen in several studies including Thermoregulation in Peripheral Nerve Injury-Induced Cold-Intolerant Rats. In 2012, scientists from the University Medical Centre Rotterdam, Netherlands, tested cold temperatures on rats that had peripheral nerve injuries. By attempting to re-warm the paws of the animals over three to nine weeks, the researchers concluded that “re-warming patterns are not altered after peripheral nerve injury in these rat models despite the fact that these animals did develop cold intolerance”.
They go on to add: “This suggests that disturbed thermoregulation may not be the prime mechanism for cold intolerance and that, other, most likely, neurological mechanisms may play a more important role.
“There is no direct correlation between cold intolerance and re-warming patterns in different peripheral nerve injury rat models.”
Peripheral nerves and thermoregulation
It’s obvious that the peripheral nerve system does play a part in feeling the differences between temperatures. In an 2009 study, nerve conduction tests were carried out on 45 Indian women between the ages of 18-25. The researchers say: “Patients with impaired circulation may have a reduced tissue temperature and additional reduction of nerve conduction velocity.” Information carried from peripheral temperature sensors tends to effect the temperature of the skin.
Authors of the 1985 research Skin-Temperature Stability between Sides of the Body reinforce this notion saying: “In normal persons, the skin temperature difference between sides of the body was only 0.24 degree +/- 0.073 degree C. In contrast, in patients with peripheral nerve injury, the temperature of the skin innervated by the damaged nerve deviated an average of 1.55 degrees C.”
It’s evident that the central nervous system, and more importantly key brain centres are mainly concerned with temperature control as well as the preoptic area and anterior hypothalamus – a portion of the brain that contains a number of small nuclei with a variety of functions.
However, scientists at the Max Delbrück Center for Molecular Medicine in Berlin, Germany, states that these hypothalamic regions harbour neurons not only detect changes in core body temperature, but are also believed to “receive and integrate input from ascending somatosensory pathways carrying information from peripheral temperature sensors”.
Despite those with HNPP clearly suffering from problems with temperature regulation, unless the connection between the autonomic nervous system is more distinctly laid out, research in this area will continually be put on the back burner. Nonetheless, there are reasons behind why we may feel cold during particularly bad weather so you’re not the only one.
1. “The Autonomic Nervous System and Body Temperature” – R. H. Johnson, 1966