HNPP · Physical Health

Feeling hot and cold with HNPP

hnpp hereditary neuropathy cold hot temperature

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. [1]

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.”

From Jon Leonard’s blog – My Life with HNPP

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.”

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.

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Simplified cartoon depicting thermoregulatory pathways – Max Delbrück Center for Molecular Medicine

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

Read: HNPP and digestion issues

HNPP · Physical Health

Washing and showering with HNPP

Shower wash HNPP hereditary neuropathy

Not everyone faces this problem thankfully, but for those who do, showering and generally washing can be an absolute pain with HNPP. The energy needed to stay clean is surprisingly high on the list of exhaustive tasks. From lathering, to attempting to be dexterous and flexible washing your back, it quickly becomes a tedious endeavour.

Okay, I’m exaggerating a tiny bit, but we all know that staying clean and presentable costs us much more in pain and fatigue than our healthy counterparts. I say this because the gaps between washing appear to have increased since being diagnosed with HNPP. In some cases, showers can exacerbate pain, exhaustion or vertigo and on some days, they’re just not going to happen.

Here are some hacks some may use to make showering (or bathing) with chronic illness easier. If you struggled to shower today, that’s okay. You’re not alone.

Some tips before undertaking this task:

  • Avoid taking a full shower on days when you have other commitments. Even with a chair, a shower requires considerable recovery time, so try not to overlap shower days with errands, doctor appointments or other energy-draining activities.
  • Make sure you have plenty of time to yourself – that way you do not need to rush.
  • Think about the temperature of the water. Some people feel hot water can help ease their muscles while others have issues with hypersensitivity. Cold water can help with dizziness but it could have reverse effects.
  • If needs be, spread out your washing routine, so washing your hair one day, your body on another.
  • Dry body wash could help you easily freshen up on the days where you can’t have a full shower. It’s a foam that is antibacterial and all you do is rub it in wherever required. Instead of masking odours, it treats the cause. . It’s also perfect for hospital stays. In the same vein, dry shampoo can help in between washes.

What to think about while washing:

  • Preparation is key – be sure to have all necessary items within reach, as you’ll have more energy and wits to find them before your shower than afterwards.
  • Products – using a 2-in-1 shampoo with built-in conditioners saves you a step in hair care and limits the amount of stretching and holding your arms over your head. Some of the brands who carry these combination products are Suave, Pantene, and Prell. Your own personal preference will tell you which to choose.
  • Try avoid using bars of soap – they are often drying, which causes skin issues for some. In addition, that wet bar of soap can easily slip from your grasp during shower time, causing you to have to bend and reach for it on the tub/shower floor. This can cause muscle strain and even lead to falling in the shower. Liquid soap may be easier to use.
  • Pump bottles – Squeeze bottles and tubes can be a problem. Pump bottles could be easier on the joints.
  • Towels – fluffy absorbing towels are worth the investment, even on a fixed budget. When used to wrap your hair turban-style, the thicker the towel, the shorter time you need to raise your arms to towel-dry your hair yourself.
  • Shower stools –  a waterproof shower stool or chair to go inside the shower is an essential item if you are unable to stand long enough to have a shower. The stool or chair will provide support, stability, and safety, allowing you to enjoy the shower as best you can. Shower chairs can be large or small, and can be bought sturdy enough to hold up to at least 450 pounds (around 200 kg). In the UK, you can hire shower stools from the Red Cross, otherwise they can be purchased through those health product catalogues. In the US, mobility aids can be bought from online health stores such as Dr Leonards.
  • Grip bars – Securely installed grip bars are a must for getting safely in and out of the bathtub. Read more: Gadgets to help cope with HNPP
  • Handheld showers – dual shower heads can allow you to stand under the shower spray for all-over rinsing, train the spray on a particular set of muscles that ache, or you can hold the spray while seated and direct it where you need it. This may mean you are likely to need assistance installing your new shower apparatus. It is simple to do, but requires the ability to stand and hold your arms up for an extended time.
  • Suction cup bin – another good preparation is to install one or more suction-cup baskets to the wall of your shower which you will be facing. Be sure that the bin you choose has holes in the bottom so water can drain out. IKEA sells them for £5 ($6.50 USD). Once you’re settled on your shower chair, there is a suction-cup plastic bin facing you at seated eye level which holds all your shower items, and you do not have to bend or reach or twist your back to reach for items when you need them.
  • Bath brush – a long-handled bath brush, preferably with a wide handle as well for easy grip, will help in washing those feet that seem, oh, so far away.
  • Entering and exiting your tub – if you have a walk-in shower, so much the better. However, for those with tub showers, caution is needed in entering/exiting the
    tub. For many, the most dangerous moment is getting in or out of the shower, and for most, getting out after expending a lot of energy is a tenuous process. If you use a cane for strength or stability, make use of it when climbing in or out of the tub. Regardless of your shower configuration, be sure that you have a non-slip absorbent bathmat outside your tub, and non-slip surfaces on your tub floor, whether adhesive or built-in.
  • Hair dryers – hair dryer stands are great to avoid holding the device for too long and causing fatigue.
  • Terry cloth bathrobes – it absorbs the water so you don’t have to towel dry and while you’re waiting to dry you get to rest from taking a shower.

The biggest ‘hack’ is to remind yourself that you do have a health condition, so if you don’t have the energy to shower one day, it’s completely okay.

Read: When small tasks become daunting with HNPP

HNPP · Physical Health

HNPP and digestion issues

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It’s considered one of the more taboo subjects given the ’embarrassing’ nature of the topic, but a large amount of HNPP sufferers appear to experience problems with their gut. And not in the instinctual kind of way. Digestive issues could be more closely linked to the condition than you may think.

While research surrounding this particular issue is limited, linking HNPP to other areas of the body could provide more information surrounding this topic. Quoting those who have spoken to noted medical practitioners researching HNPP, sufferers with the inherited disorder are more susceptible to problems with digestion “due to Schwann cells not forming properly in the embryonic stage”.

“I would take the position that unless a problem clearly has a neurological basis then it should not be attributed to HNPP.”

– Gareth J. Parry, M.D

Disclaimer: Please ask your medical practitioner for more information. This article is based on various research, journals and testimonies.

Prior to this new information, Gareth Parry MD, the Professor and Head, Department of Neurology, University of Minnesota said that symptoms such as digestion issues should not be attributed to HNPP.

Dr Parry stated: “I would take the position that unless a problem clearly has a neurological basis then it should not be attributed to HNPP. The only symptoms that I would attribute to HNPP largely without question would be numbness, paresthesias (pins and needles, tingling, etc) and weakness.”

Why is this important?

Schwann cells are vital in functioning to support neurons in the peripheral nervous system. A nerve cell communicates information to distant targets by sending electrical signals down a long, thin part of the cell called the axon. In order to increase the speed at which these electrical signals travel, the axon is insulated by myelin, which is produced by the Schwann cell. It is affected in a number of demyelinating disorders including the sister condition of HNPP called Charcot Marie-Tooth disorder.

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Myelin twists around the axon like a jelly-roll cake and prevents the loss of electrical signals. Without an intact axon and myelin sheath, peripheral nerve cells are unable to activate target muscles or relay sensory information from the limbs back to the brain.

Changeable environment within nerve injury especially the scarring time can limit Schwann cells proliferation, according to a 2011 study. Unlike in CMT, the number of total Schwann cells is seen to increase, as stated by authors of the 1998 report Fate of Schwann cells in CMT1A and HNPP.

This is reiterated in the 1998 research Neuronal Degeneration and Regeneration, where the authors state: “The reduced expression [of PMP22] would result in an extended proliferation [of Schwann cells] and in excess of myelination and thus the formation of hypermyelinated tomacula as observed in HNPP. The observation of two Schwann cells forming one myelin sheath in HNPP is in line with this theory.”

Similar to autonomic neuropathies, such as diabetic neuropathy, abnormalities reported include proliferation of Schwann cells, atrophy of denervated bands of Schwann cells, axonal degeneration in nerve fibres, primary demyelination resulting from secondary segmental demyelination related to impairment of the axonal control of myelination, remyelination, as well as onion-bulb formations.

At present, the link between how the proliferation of Schwann cells itself can cause issues with digestion and HNPP has not been established, so it may be some time before the research is more widely available.

Autonomic neuropathy and HNPP

It’s vital to understand the connection between HNPP and autonomic neuropathy because AN has been proven to include symptoms such as gastrointestinal issues. As the name implies, the autonomic nervous system is responsible for monitoring the functioning of the organs that act largely unconsciously and regulates bodily functions such as the heart rate, digestion, and respiratory rate. While there are many elements where hereditary neuropathy and AN diverge, there are certain areas where they converge but haven’t been studied.

Saltatory_Conduction

In the 2015 report Two Siblings with Genetically Proven HNPP and Autonomic Neuropathy, a brother and sister who both had the deletion of PMP22, also had symptomatic autonomic dysfunction confirmed by autonomic testing.

The researchers say: “Autonomic testing, performed due to autonomic symptoms including positional dizziness, confirmed the presence of autonomic dysfunction. The brother had neurocardiogenic syncope and adrenergic dysfunction but a normal QSART. The sister showed distal reduction of QSART response, mild symptomatic orthostatic intolerance with mild adrenergic dysfunction and intact cardiovagal and sudomotor function.”

It may be coincidental that the siblings had autonomic dysfunction on top of HNPP, however the authors conclude: “HNPP can uncommonly be associated with an autonomic neuropathy. It is important for clinicians to be aware of the potential presence of autonomic symptoms, which may contribute to poor quality of life for these patients.”

In a 2015 investigation into the link, a patient with HNPP was found to also have severe orthostatic hypotension – low blood pressure – which is generally associated with autonomic neuropathic symptoms which affects the central nervous system.

The authors say: “through exome-sequencing analysis, we identified two novel mutations in the dopamine beta hydroxylase gene. Moreover, with interactome analysis, we excluded a further influence on the origin of the disease by variants in other genes. This case increases the number of unique patients presenting with dopamine-β-hydroxylase deficiency and of cases with genetically proven double trouble.”

Dopamine-β-hydroxylase deficiency is rare form of autonomic dysfunction which affects the central nervous system attacking the functioning of the heart, bladder, intestines, sweat glands, pupils, and blood vessels. Not all are neuropathy related.

Again, these cases could be purely serendipitous given how rare they are portrayed to be, but it is apparent that more research in this area is required.

Other types of autonomic neuropathy

In the case of autonomic diabetic neuropathy, George King, MD, Director of Research and Head of the Section on Vascular Cell Biology at Joslin Diabetes Center says: “Nerves are surrounded by a covering of cells, just like an electric wire is surrounded by insulation. The cells surrounding a nerve are called Schwann cells. One theory suggests that excess sugar circulating throughout the body interacts with an enzyme in the Schwann cells, called aldose reductase. Aldose reductase transforms the sugar into sorbitol, which in turn draws water into the Schwann cells, causing them to swell.

“This in turn pinches the nerves themselves, causing damage and in many cases pain. Unless the process is stopped and reversed, both the Schwann cells and the nerves they surround die.” Sorbitol, which can be taken as an enzyme, is said to have laxative effects and does not get broken down in the small intestine, and causes water to be retained. When glucose is converted to sorbitol via the enzyme aldose reductase it results in a decrease in tissue myoinositol, with far-reaching effects throughout the nervous system.

According to the 2000 study The Diabetic Stomach: Management Strategies for Clinicians and Patients, author Gerald Berstein, M.D., says: “In the gastrointestinal tract, [diabetic neuropathy] causes, in effect, an autovagotomy […] hyperglycemia results in cellular anatomic disruption throughout the gastrointestinal tract, but especially in the stomach. Nerve cells may swell with the loss of myelinated fibers […] In the stomach, motility may be reduced in the antrum and proximal stomach. There may also be pylorospasm.”

Gastroparesis, or delayed gastric emptying, is a rare feature of diabetic autonomic neuropathy. This long-term condition means food passes through the stomach more slowly than usual. It’s not always clear what leads to gastroparesis. But in many cases, gastroparesis is believed to be caused by damage to the vagus nerve that controls the stomach muscles.

“A doctor explained it as if it was similar to diabetes. Where our bodies should be able to digest at any given moment but in ours the signals just don’t always get there. Resulting in a case of this food ready and there but unable to be digested for my self it always results in diarrhoea and horrible stomach pains. But as with everything with this disease it varies greatly from person to person.”

Charcot Marie-Tooth disorder forum on Reddit

As with the above, there is virtually no information in regards to gastroparesis linked to HNPP, however, episodes of gastroparesis has been recorded in those with Charcot Marie-Tooth disorder.

The vagus nerve and HNPP

The vagus nerve helps manage the complex processes in your digestive tract, including signalling the muscles in your stomach to contract and push food into the small intestine. A damaged vagus nerve can’t send signals normally to your stomach muscles. This may cause food to remain in your stomach longer, rather than move normally into your small intestine to be digested.

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In one study, esophageal dysphagia in HNPP – the sensation of food sticking or getting hung up in the base of your throat or in your chest after you’ve started to swallow – was compared to bovine tomaculous neuropathy. In this particular condition, cows were seen to have “bilateral vagus nerve degeneration, with nerve lesions similar to those seen in tomaculous neuropathy in humans.”

The research surrounding HNPP by Brazilian scientists at the Neurology Division, Internal Medicine Department, Universidade Federal do Paraná (UFPR), however, concludes that this was seen to be “rare” and that HNPP “should be considered in the differential diagnosis of patients with atypical swallowing dysfunction.”

The bovine study should also be taken with a pinch of salt given the difference of the physiognomy between animals and humans. Authors of A Study of the Pathology of a Bovine Primary Peripheral Myelinopathy, state similar traits such as the thickening of myelin sheaths within HNPP was observed in the cows in question. At the same time, 1995 research reports: “Clinical signs of dysphagia and chronic rumenal bloat developed after weaning which were attributable to bilateral vagus nerve degeneration.”

They go on to add: “The lesions are similar to those seen in the tomaculous neuropathies
of man.”

It may be the first signs of the scientific community attempting to make the leap between hereditary peripheral neuropathy with the vagus nerve as well as autonomic-type dysfunctions attacking the digestive system. However, without the words on paper and significant credibility, it’s hard to make a judgement.

Read: When HNPP ’causes breathing problems’

HNPP · Physical Health

Can hearing be affected by HNPP?

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A discussion about the effect of HNPP on hearing arose in a group forum, and the possibility of damage to the auditory nerve. Some members have said they are suffering from auditory-related issues including tinnitus and hearing loss, which could be seen as a potential manifestation of this inherited condition, but does the research back the claims?

A survey conducted by one of the groups in December 2016 showed that 41 people out of 73 individuals with HNPP suffered from tinnitus, a term for hearing sounds that come from inside your body, rather than from an outside source. This can include ringing in the ears, or even music and singing. It could be purely coincidental, or related to another underlying issue.

So what do the academics say?

How HNPP could be connected to hearing issues

In 2005, Wim Verhagen along with five other researchers from the Department of Neurology, Canisius-Wilhelmina Hospital, Nijmegen, in the Netherlands, held a study measuring sensorineural hearing impairment in participants with HNPP and hereditary motor and sensory neuropathy (HMSN-1a). A sensorineural hearing loss is damage to the hair cells in the cochlea (sensory hearing organ) or damage to the hearing nerve.

“The progressive SNHI in HNPP might be explained by the liability for exogenous factors associated with this disorder.”

Sensorineural Hearing Impairment in Patients with PMP22 Duplication, Deletion, and Frameshift Mutations – Verhagen WI et al, 2005

Sixteen patients with HNPP and another eleven with a frame shift mutation of the PMP22 gene within the same condition were given hearing tests via an audiogram. The authors found that those with HNPP had hearing regression beyond presbycusis – hearing loss that is commonly associated with natural ageing.

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They state: “Patients with HNPP showed postnatal onset at age 11 years with progression of SNHI [sensorineural hearing impairment] in excess of presbyacusis by 0.4 dB per year.” The researchers explain that after a certain age, the degree of hearing was recorded to have decreased more than the average person without this type of neuropathy.

They add: “The differences in SNHI may be explained by the differences in PMP22 expression. The progressive SNHI in HNPP might be explained by the liability for exogenous factors associated with this disorder.”

A 2015 case report produced by Martin Gencik and Josef Finsterer from the Human Genetic Laboratory in Vienna, Austria, presented a 37-year-old man with HNPP who had quite serious hearing loss after a fracture in the skull due to a gunshot behind the right ear, as well as a whole host of other issues. Without a question, it is obvious that a gunshot wound would have a significant impact on a person’s functionality, with or without HNPP.

“Since hypoacusis is a frequent phenotypic feature of HNPP, the phenotype suggested hereditary neuropathy rather than any of the other possible differential diagnoses.”

Hereditary Neuropathy with Liability to Pressure Palsies Masked by Previous Gunshots and Tuberculosis – Martin Gencik and Josef Finsterer, 2015

The authors however, attribute the man’s left-side hypoacusis – a medical term which simply means hearing impairment, a partial or total inability to hear – to HNPP stating: “Although it was initially attributed to the trauma from the gunshot, there was no explanation for hypoacusis on the left side.”

Using the 2005 study as the basis of the diagnosis, the authors go on to say: “Since hypoacusis is a frequent phenotypic feature of HNPP, the phenotype suggested hereditary neuropathy rather than any of the other possible differential diagnoses.”

The authors importantly add that a link to HNPP and cerebral cavernoma i.e. collections of small blood vessels (capillaries) in the brain that are enlarged and irregular in structure, has not been established thus the report is purely speculative.

In a German translated study, researchers at the Paediatric Centre, Olga Hospital, Stuttgart, reported that a six-year-old boy with HNPP was suffering from progressive deafness. The translated report states: “Searching for the reason of the deafness we found mild peripheral neuropathy with reduced motor nerve conduction velocity. The MR of the brain showed demyelinated lesions and CSF [cerebrospinal fluid] protein was elevated. Biopsy of the suralis nerve demonstrated thickenings of the nerve, called tomaculae, which are typical for HNPP.”

As a result, they made the assumption: “Because there were no signs of any other disease, we assume that PMP22 has also influence of central myelination or the described chromosomal deletion is responsible for the expression of a other unknown protein with a central function.”

As well-intentioned the authors may be, the report is still highly questionable and much of the diagnoses is based on conjecture.

How HNPP could not be linked to hearing issues

In a more recent report for the Acta Neurologica Scandinavica Journal, the opposite seem to have been revealed.

Researchers from the University Hospital of Leicester, UK, tested eight patients with HNPP, among 23 others with other “demyelinating neuropathies”. A demyelinating neuropathy is any condition that results in damage to the protective covering (myelin sheath) that surrounds nerve fibres. When the myelin sheath is damaged, nerve impulses slow or even stop, causing neurological or neuropathic problems.

The participants were examined on their brain stem auditory and visual responses, focusing more on the central nervous system rather than the peripheral nervous system, which is where most HNPP symptoms derive from.

“Peripheral auditory nerves may be spared in HNPP possibly due to absence of local compression.”

Optic and Auditory Pathway Dysfunction in Demyelinating Neuropathies – Knopp M et al, 2014

According to the research, there were more HNPP participants suffering from optical issues rather than peripheral auditory nerve-related problems. And brain stem involvement was “exceptional” in all groups.

The authors state that lack of hearing issues within HNPP could be down to the fact that compression is required for nerves to become damaged, adding: “Peripheral auditory nerves may be spared in HNPP possibly due to absence of local compression. Evidence for central brainstem pathology appeared infrequent in all four studied neuropathies.

“This study suggests that acquired and genetic demyelinating polyneuropathies may be associated with optic and auditory nerve involvement, which may contribute to neurological disability, and require greater awareness.”

As a fellow HNPP sufferer says the study “poses more questions than it answers” given that they provide opposing evidence to the 2005 report.

There have been frequent reports of bilateral sensorineural hearing loss in patients with various types of peripheral neuropathies including hereditary motor and sensory neuropathy [1], and hereditary sensory and autonomic neuropathy [2]. However, research is mostly based on Charcot Marie-Tooth disorder, and more widely diagnosed inherited neuropathies as well as those suffering from multimorbidities.

And while there may be a fair few HNPP sufferers with complaints of hearing loss, it’s still very unclear there is a direct correlation.

  • 1. Musiek et al., 1982; Raglan et al., 1987; Perez et al., 1988
  • 2. Denny-Brown, 1951; Hallpike et al., 1980; Wright and Dyck, 1995
HNPP · Physical Health

Do HNPP sufferers get brain fog?

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You walk into a room, knowing you’re there for a reason, but within moments you’ve forgotten why you’re there. Some sufferers of HNPP claim to suffer from forgetfulness, memory blanks, and being in a haze. I write this completely woozy, the computer screen and mobile phone a complete blur, so it will be less detailed than usual.

“Brain fog” isn’t a medical condition in itself, rather a symptom of an underlying health issue or even a side effect from a medication. It can affect your ability to think and you may feel confused or disorganised or find it hard to focus or put your thoughts into words. It can be fleeting, but for others dealing with multiple chronic conditions, it tends to last longer.

While some individuals with HNPP may face this, it’s still questionable whether it is a direct symptom of this inherited disorder.

Watch HNPP sufferer Jessica Kellgren-Fozard speak about her experiences of brain fog:

Asked if memory problems such as forgetting words or conversations, as well as losing your train of thought are common occurrences with HNPP, Gareth Parry, M.D, appears to disagree.

According to HNPP.info, the Professor and Head, Department of Neurology, University of Minnesota, says: “I am not aware of forgetfulness being a problem with HNPP patients other than related to drugs. One of the commonest causes of forgetfulness in young people is distractibility. For example, when one is anxious about an exam or some such life crisis, one tends to forget the less pressing things associated with every day life.”

“It is a possibility, but I suppose there may also be some direct effect on the brain although the protein for which the gene encodes is not a CNS protein.”

– Gareth J. Parry, M.D

While he doesn’t completely discount it, he adds: “I frequently see patients with serious illnesses have major problems with memory. If HNPP is creating significant problems perhaps it is distracting the victim from their everyday activities. It is a possibility, but I suppose there may also be some direct effect on the brain although the protein for which the gene encodes is not a CNS [central nervous system] protein.”

Cognitive fog may not be a direct symptom of HNPP, however, a 2013 study reports that some with either a duplication or deletion of the PMP22 gene, which is a fundamental tenet of the condition, had cognitive impairment.

Authors of the report Central Nervous System Abnormalities in Patients with PMP22 Gene Mutations said: “We found a decrease in the volume of WM [white matter] in 70% of patients, a reduced creatine level in WM in 28% and a cognitive impairment in 70%.”

White matter makes up half the human brain and has only recently been linked to cognition, the mental action or process of acquiring knowledge and understanding through thought, experience, and the senses. Research suggests that “white matter tracts mediate the essential connectivity by which human behaviour is organised, working in concert with grey matter to enable the extraordinary repertoire of human cognitive capacities.”

White matter HNPP hereditary neuropathy

Writing in the Journal of Neurology, Neurosurgery, and Psychiatry, researchers of the above 2013 study say that the results showed that 47 per cent of the patients with HNPP and those with CMT1A had “abnormal” levels of white matter volume, creatine level in white matter as well as cognitive testing.

They conclude: “The study demonstrates that altered PMP22 gene expression induces significant CNS alterations in patients with HNPP and CMT1A, including cerebral WM abnormalities and cognitive impairment.”

In the 2013 edition of Nervous System Diseases: New Insights for the Healthcare Professional, reporters from VerticalNews based in Strasbourg, France, reiterates the research, quoting the authors above: “Mutations of the peripheral myelin protein-22 (PMP22) gene are the most common cause of inherited diseases of the peripheral nervous system (PNS), with its deletion resulting in hereditary neuropathy with liability to pressure palsies (HNPP), and its duplication inducing Charcot Marie-Tooth 1A (CMT1A) diseases.

“Although mainly expressed in the PNS, PMP22 mRNA and protein are also present in the central nervous system (CNS).”

With only 30 participants tested in total, further research may be required for more definitive results.

What other causes could be a factor?

Medications

Some drugs – either prescribed or over the counter – can cause brain fog. If you take medicine and notice that your thinking isn’t as clear as it should be or you suddenly can’t remember things, it might be worth asking your medical practitioner if there is an alternative or if the side effects will pass.

Chronic Fatigue

An obvious part of feeling ‘foggy’ is dealing with chronic fatigue. With chronic fatigue, your body and mind are tired for a long time. You may feel confused, forgetful, and unable to focus.

Sleep

You need sleep to help your brain work the way it should, but too much can make you feel foggy, too. Aim for 7 to 9 hours.

Blogger Mark from Developing The Human Brain recommends allowing your body to wake up slowly and begin to move slowly. He adds: “Sit up in your bed for at least 12 sec after you wake up for stabilizing your blood flow.”

Dehydration

If you’re even the slightest bit dehydrated, it’s impossible to function at your full capacity. Every single cell in your body needs water, including those in your brain and your muscles. As the brain and heart is made up of 73 per cent water, it is the first organs to show signs of dehydration. Mild dehydration may affect your ability to take on mental tasks and cause you to feel foggy headed, according to a study from the British Journal of Nutrition.

Tips to reduce brain fog
  • Sleep – get enough sleep at night and stick to a reasonable bedtime. Also, find ways to manage mental and emotional stressors, such as conscious breathing or purposeful exercise.
  • Take note – either write down anything you need to do or create reminders and lists. Whether using post-it notes, a notebook, calendars or whatever works for you personally, all of these things help keep a record of what you need to remember.
  • Ask for help – if you have people around you, ask them to remind you of anything important.
  • Mobile apps – there are a whole host of mobile apps that can help you plan ahead including:
    • Cozi – marketed as a “family app”, you can keep everyone’s activities and appointments; as well as create and share shopping lists, chores.
    • MedCoach – medical app that helps you remember to take your medications and pills at the right time and day.
    • Evernote – you can capture, organise, and share notes from anywhere including taking pictures, websites, and making voice notes. It can be synced as well.
    •  Todoist – like Evernote – automatically syncs wherever you log in, which is useful for those moments of clarity when you need to write something down quickly.
  • Vitamin D – increased exposure to sunlight may help you to think more clearly. “The beauty of nature will give your prefrontal cortex – the area of your brain that helps you focus – an opportunity to recharge,” says neurologist Marie Palinski, at Massachusetts General Hospital.
  • Flare-up tool kit – just like with chronic pain, you may need to put everything you need to help you make it through your flare in the same place/in a flare-up tool-kit box.
  • Engage yourself – reading a book, seeing a play, or working a crossword puzzle or word game challenges your mind and stimulates your brain and your memory.  Dr Palinski, also a faculty member at Harvard Medical School and author of Beautiful Brain, Beautiful You says, “When stuck in a rut, we’re constantly treading the same brain pathways. Engaging in a new activity literally wakes up our brains.” That’s because the brain has to lay new neural pathways to process new information. At the same time too much stimulation can be overwhelming.
  • Postpone engagements – when you’re too tired and full of fog to think, put things off until the next day and get extra rest instead. Listen to the needs and signals your body gives. Use the presence of brain fog as a signal to slow down.
  • Manage your environment – move to a quiet place to minimise distractions when you are trying to concentrate. Reducing clutter in your living space helps you to be more organised, and remember where things are. Create a daily routine for yourself. Sticking to a routine may help you remember what tasks you have to do each day, and in what order to do them.
  • Relaxation techniques – relaxing activities such as yoga, tai chi and meditation can improve problems with sleep, fatigue, poor memory and anxiety – all of which are linked to brain fog, according to many studies.

While not everyone suffers from memory issues or general forgetfulness, it’s good to be prepared for any circumstance when you end up in a daze.

Read: When small tasks become daunting with HNPP

HNPP · Physical Health

How to travel with HNPP

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It’s summer in most of the northern hemisphere which means it’s time for vacation for many people. It can be challenging for many with HNPP who are planning to get away, either at home or abroad, therefore you may need to do some more research to make sure that your destination is going to meet your needs.

Although travelling abroad can be relaxing and rewarding, the physical demands of travel can be stressful, particularly for those with underlying chronic illnesses. With adequate preparation, however, chronic illness sufferers can have safe and enjoyable trips.

Preparing ahead of your holiday

First things first, before you make the journey there are few bits to consider including if you can manage your health while you’re abroad. It may seem like a formidable task, but it’s better to be prepared for any eventuality.

  • Ensure that any chronic illnesses are well controlled – it may be useful to see your health care provider to ensure that the management of your illness is optimised.
  • Vaccinations – if you are going abroad to tropical climes, make sure you get the correct vaccinations. As you may know, certain immunisations, could have adverse side effects with current medications that you may be taking so it’s essential to check and let your medical practitioner know that this could be a factor. Immunisations may also present symptoms at a later date, so you may have to consider the long term impact as well.
  • Think about where you are going – will you have access to your medical needs if required? Or medications if you run out?
  • Pack a travel health kit – travellers with preexisting medical conditions should carry enough medication for the duration of their trip and an extra supply, in case the trip is extended for any reason. If additional supplies or medications would be needed to manage aggravations of existing medical conditions, these should be carried as well. Your clinician managing your condition should be consulted for the best plan of action. Consider wearing an alert bracelet and making sure this information (in English and preferably translated into the local language of the destination) is on a card in your purse or wallet and with your other travel documents.
  • Medical supplies – make sure you carry on some of your medication if you are travelling by air, and with this a copy of your prescriptions. Take sufficient quantities of medications for the entire trip, plus extra in case of unexpected delays. Since medications should be taken based on elapsed time and not time of day, you may need guidance on scheduling when to take medications during and after crossing time zones.
  • Medication restrictions – check with your embassy or consulate to clarify medication restrictions in the destination country. Some countries do not allow visitors to bring certain medications into the country.
  • Drug interactions – certain medications used to treat chronic medical illnesses may interact with medications prescribed for self-treatment of travellers’ diarrhoea or malaria chemoprophylaxis. You may want to ask your GP about this ahead of time.
  • Provide a doctor’s letter – this can come in handy if heaven forbid you get ill during your travels. Handing this to a practitioner at your destination may avoid any mistakes from happening. The letter should be on office letterhead stationery and should outline existing medical conditions, medications prescribed (including generic names), and any equipment required to manage the condition.
  • Medical travel insurance – this is a given. It’s always better to be safe than sorry even if you’re going away for a few days. Three types of insurance policies can be considered: 1) trip cancellation in the event of illness; 2) supplemental insurance so that money paid for health care abroad may be reimbursed, since most medical insurance policies do not cover health care in other countries; and 3) medical evacuation insurance. Travellers may need extra help in finding supplemental insurance, as some plans will not cover costs for preexisting conditions. Make sure to also check the excess, as sometimes you end up paying more in excess than the policy actually pays you back. You must declare your condition. Many online companies now do offer “medical screening” as you go through the ordering process.
  • Medical assistance companies – this is less common everywhere and isn’t for everyone, however, there are organisations that can store your medical history so it can be accessed worldwide. Some companies are listed below:
  • Research your destination – check facilities that are available at your destination, such as ease of access and transport options. Consult widely including good guidebooks, disability organisations in the the country that you’re visiting, the embassy or high commission of the country you plan to visit, specialist tour operations and tourist boards.
  • Foreign office – check the travel advice by country before you travel and while you’re there which you can find on your government’s websites.
  • Contacting beforehand – when contacting holiday providers, airlines, hotels etc, clearly state your needs and what assistance you require – just telling people you have a particular illness doesn’t mean that they will understand your needs, so you may need to clearly explain them. Service providers are required by law in many cases to accommodate travellers with special needs. However, most need some time to make the necessary arrangements. Mention your needs at the time of reservation, and call the provider 24 to 48 hours before your arrival to confirm that proper accommodations have been made. This checklist from the ABTA travel board may help guide you.
  • Ensure everything is airtight – confirm enquiries, bookings and reservations in writing. Double check all arrangements before departure.

Resources: UK Foreign Office and Centers for Disease Control and Prevention

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Managing air travel

Flying abroad?  Airports are usually enormous, with vast distances to be traversed between check-in areas, and planes. Here are a few things to consider:

  • Avoid connecting flights – although wheelchairs are the last items to be checked into the luggage compartments, and thus first to be pulled off, flying direct can save you unnecessary time and hassle. One exception: If you have trouble manoeuvring into airplane lavatories, long flights may become uncomfortable — so a series of shorter flights might be a better option. If you do choose to connect, be sure to allow plenty of time between flights (at least 90 minutes, or two hours if you need to go through customs or security) to get from one gate to the next.
  • Allow plenty of time – you will need time before your flight to check in, get through security and transfer to your gate. Arrive at least two hours before a domestic flight and three hours before an international flight — more if you’re travelling at a peak time.
  • Mobility access – check in with your flight attendant before your plane lands to make a plan for exit.  All airports provide wheelchair assistance, which is usually excellent, to get from A to B – you can book this through your airline, either at the time of booking by ticking the relevant box, or phoning a dedicated disability booking line.  Make sure you do this well in advance, or at the very least, three days before travelling.
  • Transportation – don’t forget about transportation to and from the airport. If you have a wheelchair, make arrangements in advance to have an accessible vehicle pick you up in your destination city.
  • Wheelchairs – for those with wheelchairs, bring spare parts and tools. Assemble a small kit of spare parts and tools for emergency repairs. You may also be required to dismantle a wheelchair for certain flights or activities; make sure you and your travelling companions know how to do this.
  • Know your rights – before going through airport security, be aware of the rules for travellers with disabilities and medical conditions. I had a few unfortunate experiences with my walking stick.
Accommodation

Be specific about your requirements – ask for whatever you need to make your stay comfortable and ask for written confirmation that they are available. Your travel agent or tour operator should be able to advise you, but you may also decide to call the hotel, resort or cruise liner directly to speak to someone who is familiar with the rooms.

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You may want to think about the following:

Wheelchair access

  • Is there step free access to all the main areas of the hotel, resort or ship?
  • Are there charging facilities for electrical equipment such as a wheelchair?
  • If you have mobility needs or are visually impaired, you should check on the access to public rooms, restaurants, bars, toilets, swimming pool, beach etc
  • Can any equipment you need be hired locally, such as back rests, bathing equipment, hoists, ramps and special mattresses? Information may be available from local disability groups at your destination
  • Is a lift is available and if so, will your wheelchair or other equipment fit?

Location of the bedrooms

  • Can you be on the ground floor if you wish, or near a suitable lift?
  • Do the bedroom facilities fit your needs, for example, is the door wide enough, does it open outwards or inwards?
  • Do the bathroom facilities fit your needs, for example, is the room large enough: is there a roll-in shower or grab-bars?
  • Can your dietary requirements be met?
  • Are there facilities for assistance dogs?

Rooms:

  • Wider entry and bathroom doorways. Easy to open?
  • Mid-height light switches and power outlets
  • Lever type door handles
  • Manoeuvring space on each side of the bed
  • Roll in shower
  • Wheeled shower chair and/or wall mounted shower seat
  • Grab bars in bathroom
  • Raised toilet
  • Lower hanging space in closet

Neighbourhood:

  • Proximity to markets, pubs, restaurants
  • Proximity to health services.

Be prepared, in the unlikely event that:

  • The hotel does not have the accessible room available for you when you arrive. The hotel will need to find you an accessible room, even in another hotel. You will need to ask “where will you put us up for the night?”
  • The complimentary hotel shuttle may not be accessible. The hotel will need to accommodate the service in some other way. “How will you provide alternate shuttle service for us?”

As an avid traveller, being diagnosed with HNPP felt like an end of my solo quests. But with the right information, being prepared, and calling ahead, being on holiday won’t seem like such an arduous task, rather it will be just what the doctor ordered.

Useful Websites and Resources

For more information on travelling with all types of disabilities, check out the websites and other resources below.

Read: Is walking good for those with HNPP?

HNPP · Physical Health

When HNPP ’causes breathing problems’

Lungs

If you didn’t think it was possible, but some individuals with HNPP claim they suffer from breathing problems due to anomalies with certain nerves. Breathing problems associated with hereditary neuropathy are often ignored because most doctors don’t know they can be part of the disorder.

While hyperventilation is less common, weakness of the thoracic diaphragm, which enables people to breathe, and the nerve linked to it is suggested to cause problems with breathing.

Disclaimer: Please ask your medical practitioner or doctor for more information. This article is based on various research, journals and testimonies.

Why does it happen?

HNPP makes the nerves very susceptible to trauma, which plays a pivotal role when it comes to the act of inhaling and exhaling. There are several major issues that create specific problems:

Hypoglossal Nerve

The hypoglossal nerve is the twelfth paired nerve in the brain. Its name is derived from ancient Greek, ‘hypo‘ meaning under, and ‘glossal’ meaning tongue. The nerve has a purely somatic motor function, innervating the majority of the muscles of the tongue.

According to the 2015 study Disorders of the Lower Cranial Nerves by authors Josef Finsterer and Wolfgang Grisold, the nerve directs not only voluntary activities of the tongue, but also involuntary functions, such as clearing the mouth of saliva by swallowing. They report that some people with HNPP have been reported to have issues with this specific nerve. The authors state: “Another [lower cranial nerve] involved in HNPP is the hypoglossal nerve. The affection of the hypoglossal nerve has been also reported in other types of hereditary neuropathy.”

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Researchers at the Department of Neurobiology, Tokyo Metropolitan Institute for Neuroscience, say that there is a distinct link between swallowing and breathing. Using six rats, they report: “The XII nerve activity preceding that of the phrenic nerve (pre-I XII nerve activity) was markedly exaggerated during periods when this relation was disrupted”.

The phrenic nerve plays an important role in breathing because the nerve originates in the neck passes down between the lung and heart to reach the diaphragm. It is responsible for controlling the contractions of the diaphragm, which allows the lungs to take in and release air and make us breathe properly. During the above experiment with the rats, the authors say that “nerve activity was also shown to couple with swallowing in the same manner as ‘real’ inspiratory activity.”

You may experience this when your breath arrests for a moment while attempting to swallow, which brings me neatly on to the significance of the phrenic nerve.

Phrenic Nerve

Nerve fibres of the phrenic nerve, spinal nerves, and laryngeus recurrens nerve project to the diaphragm, abdominal, intercostal, and laryngeal muscles. While it is considered “exceptional”, some HNPP sufferers do face these symptoms.

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In the 2016 report Laryngeal and Phrenic Nerve Involvement in a Patient with Hereditary Neuropathy with Liability to Pressure Palsies, the participant is said to have had vocal cord paralysis as well as “latency of the right phrenic nerve” and reduced right hemi-diaphragm – the muscle that separates the chest cavity from the abdomen and that serves as the main muscle of respiration.

The study suggests that a person with comorbidity, or someone who suffers from several separate illnesses which in this case was chronic obstructive pulmonary disease (COPD), can consequently end up with breathing issues. They also say that this was rectified through COPD treatment. Potential weight loss from HNPP could be a triggering factor.

This video by Professor Mary Reilly from the National Hospital for Neurology in London, UK, explains breathing issues for those suffering from the inherited condition Charcot Marie-Tooth syndrome:

Brachial plexopathy can be an issue withh HNPP sufferers. It is a form of peripheral neuropathy which occurs when there is damage to the brachial plexus, an area on each side of the neck where nerve roots from the spinal cord split into each arm’s nerves. Nerves outside the brachial plexus, extends from the spinal cord, through the cervicoaxillary canal in the neck, over the first rib, and into the armpit.

The phrenic nerve receives stimuli from parts of both the cervical plexus and the brachial plexus of nerves. As Satish Khadilkar and Snehaldatta Khade state in the Official Journal of Indian Academy of Neurology: “Hereditary neuropathy with pressure palsies can present phenotypically like acute brachial plexopathy. But, unlike the classical phenotype, recurrence is unusual.”

Hence damage to this area could potentially weaken signals and cause breathing difficulties.

How likely is it occur?

However, it’s important to note that respiratory issues are more common with the inherited condition Charcot Marie-Tooth syndrome. In a 2016 study including 49 patients with genetically confirmed CMT or HNPP, those with a duplication of the PMP22 gene as well as those with a mutation of the MPZ gene were more likely to face issues with breathing. The HNPP participants were recorded not to have faced respiratory problems.

The authors of Underestimated Associated Features in CMT Neuropathies say that those with the CMT2-I/J (Charcot Marie-Tooth syndrome Type 2) condition had certain mutations in the MPZ gene causing “respiratory insufficiency”, which obviously reiterates the rarity of this occurring when a person suffers from HNPP.

This video, made by CMTA, explains what’s going on in more detail:

The organisation CMT UK has recommended the following, which may be applicable to those with HNPP if you feel that you are suffering from breathing issues.

What to do if you think you’re having breathing difficulties

  • Have your doctor send you to a cardio-pulmonary specialist for a sleep study.
  • Suggest that your maximum inspiratory pressure (MIP) and maximum expiratory pressure (MEP) be tested both sitting and lying down.
  • If you are having bad morning headaches you could be retaining CO2. The above tests will show that.
  • You can elevate the head (from the waist) of your bed two or three inches by putting bricks under the legs or a suitcase under the mattress.
  • You can keep your weight down.
  • Make sure you have had a pneumonia and flu vaccinations (ask your GP) and treat respiratory infections aggressively.

As mentioned, breathing problems is rather a rare symptom to be associated with HNPP. That being said, there is still a lot of research to be undertaken to establish other symptoms associated with the condition. The main thing is not to hold back and visit your medical practitioner if you feel there may be a problem.

Read: Can HNPP lead to bone-related issues?

HNPP · Mental Health · Physical Health

HNPP and chronic pain flare-ups

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Like lightning, chronic pain can strike you down at any point during the day let alone the week. When you are so sick and unable to think clearly, it is easy to be ruminating in a downward spiral and become stuck in that hopeless state of mind, making your pain worse than it already is. Therefore it is essential to keep a strategy in place to manage the pain.

So what is a ‘flare-up’?

The London Pain Clinic describes chronic pain as a pain that persists for an unusually long period of time, which goes beyond the expected time of healing. It can lead to a series of long-term consequences such as loss of physical activity and sleep, a sense of uncertainty and insecurity about the future and feelings of despair and helplessness.

Pain flare-ups typically refer to those times when the chronic pain is more intense than usual. Flare-ups are often triggered by overdoing things, although the effects might not be felt until later, moving or sleeping awkwardly, or cold weather. From a statistical viewpoint, if pain is being measured on a 0 to 10 pain intensity scale, with the zero level implying no pain, a flare-up will mean episodes in which the pain is at level 7 or higher.

It can last from a few seconds to several hours, appearing in various guises such as muscle spasms, migraines, cramps, sharp and jabbing sensations and the like.

Brittani Daniels started up pamper company called Spoonie Essential Box after being hospitalised with the chronic illnesses, Crohn’s Diseases, Lupus, as well as colon cancer. More information about boxes below.

So what’s the plan?

Obviously, the old adage “prevention is better than cure” is an important notion when seeking to manage chronic pain flare-ups. First of all, it’s important to analyse the pattern in which the flare-up occurs and then develop a plan around it. Make a list of steps you will take the moment you recognise a flare-up. Keep the plan handy and resort to it immediately when you feel a flare-up rising.

  • Positive environment – keep affirming to yourself your will power to sail through the painful episode. Research shows that individuals who retain their self-confidence and positive attitude are able to handle the flare-up episodes much better. Think about what has made you feel better in the past and try utilise this during this time.
  • Alternative medicines – consult your healthcare provider beforehand and make note of any changes required to your medications during the flare-ups. Generally, short-term changes to the medicines are required in case of intense chronic pain flare-ups.
  • Monitor your breathing – tensed muscles and a quickened and shallow breathing immediately precede pain flare-ups. To help control the aggravation of a flare-up, it is important that you concentrate hard on the pace of your breathing and learn to take a deep breath.
  • Create a ‘spoonie box’ – consider keeping a stock of bottled water and nutrition bars near your bed. If you don’t eat anything, your blood sugar will drop and your muscles will become dehydrated, which causes the body to ache and will likely increase your pain. If your pain is already severe, by having easy access to food and water, you’re preventing it from getting worse. While there are many companies that provide pamper spoonie boxes, you can probably prepare one yourself at home. Items to consider include:
    • Snacks – from cereal bars and rice cakes to assorted nuts (obviously not if you’re allergic), having a stash of snacks can help get you through several hours without having to get up and raid the cupboard. This, however, isn’t a meal replacement. If push comes to shove, there are meal replacement drinks if it’s too difficult to heat up some soup. Some great spoonie boxes keep popcorn for those who just want to lie in bed and watch some Netflix. Chocolates are a significant part of my stash.
    • Bottle of water – essential while you’re in pain to keep drinking water and avoid getting dehydrated. If you have a thermos, then some chamomile or herbal tea maybe handy.
    • Additional medication / supplements – you may already have a pill box that helps divide up your medication for the week, but having an additional box for your recovery cache will save you from dealing with opening bottles and popping tablets.
    • Sleep masks and ear plugs – for those wanting a peaceful slumber without the blaring and glaring of the outside world.
    • Affirmations – positive messages during this time can help remind you that this is expected and not to give yourself a hard time for ‘failing to perform’. Even the Serenity Prayer is useful for this situation.
      • “I seek the serenity to accept what I cannot change; the courage to change what I can; and the wisdom to know the difference.”
      • “I know it hurts right now but I have been through this before. I know I can handle it because this will settle in time”.
      • “Stay calm, and relaxed. Tension isn’t going to help. Keep breathing slowly and deeply”.
      • “The pain is quite bad now, but I can get the better of this and stay positive. I must remember what I have done in the past which has helped to distract me for a while”.
    • Slipper socks – if they are loose and padded, these are literally the most comfortable pieces of footwear on earth.
    • Baths – sitting in a bubble bath is not everyone’s cup of tea, but for those who want to treat themselves to a luxury ‘spa’ type of day, then keeping bath bombs in your box can help distract you from what this day is all about.
    • Hot water bottles and cool packs – always useful for nerve or muscular related flare-ups.
    • Books, and DVDs – to pass the time, keep that film you want to watch or that book you want to read for during this time. If you’re in too much pain, revert back to sleep mode.
    • TENS machine – if you have one, these are known to provide quite a lot of help easing pain.
  • Alternative treatments – if it’s possible, getting a massage or some other type of holistic treatment may be beneficial.  You can hire professional services for the same, or request a friend or a family member. A gentle massage of the affected area could help reduce tension and pain – but do ask your medical practitioner in case this may aggravate your pain instead.
  • Stress management – prioritise what you will be able to do depending on the day. It’s a reminder that these things might be possible on a good day. Think about what has made you feel better in the past. As you learn to cope with the flare-ups, you should try and set only realistic pain goals or else you are likely to experience a sense of frustration and failure.. It is important to keep the stress levels under control, if you want to minimise the scope of flare-ups. Stress and anxiety aggravate chronic pain and might worsen the situation further.
  • Don’t ignore the pain – this is a given, and it’s unlikely most people can ignore a flare-up. Immediately begin the treatment of a flare-up as it happens, else it might worsen.
  • Make a diary – it helps to make a diary and make regular notes of your experience with the flare-up. It is worthwhile to note down the activities that preceded the flare-up, the mood-swings, medication taken and any other such information.
  • Don’t stop all activity – there is a high chance your pain will get a little better if you force yourself to get out of bed and shower. Getting out of bed with time, can increase your circulation, decrease headaches, and realign your body that was pushed into a misaligned position for many hours of sleeping in bed. Getting out of bed can distract the mind from focusing on the intensity of the pain. It is actually advisable to continue doing some gentle form of activity that does not cause too much of stress. Try to be purposeful with your activities. If getting out of bed and walking around the house for circulation is a goal to decrease pain, think about where to walk in the house. Even going to the garden, and walking around for several minutes can help lift your mood. If the pain gets worse, then do not forget to rest.
  • Relaxation techniques – if getting out of bed is not a possibility that day, consider downloading relaxation apps. These apps may help lower your stress and anxiety by guiding you through meditation and relaxation when sometimes it’s hard to do yourself.
  • Appointing friends and family to help – if you have the option, call a friend and let them help you in anyway suitable. This may include helping around with certain chores, taking a light walk, or just generally keeping you company. It is totally your prerogative to ask for support.

Unfortunately, learning to manage pain isn’t always a prioritised discussion with healthcare providers. Doctors prescribe more pain medication, blame stress and diet, and your time is done. You are expected to just go home and figure out how to deal with these major life changes.

While medical professionals are only just beginning to understand the impact of chronic pain on daily lives, learning to master the pain yourself will give you a head start.

Resources:

Read: Relaxation Techniques to Help HNPP Sufferers

HNPP · Physical Health

Can HNPP lead to bone-related issues?

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There appears to be a common trend of patients with HNPP having joint-related issues, which seems to go hand-in-hand with the fact that over-compensation on certain limbs, nerve damage, and issues with the feet eventually leads to problems with bones in general.

From osteoporosis to bone spur, entrapments of the nerves can cause a range of complications. Damage due to bone and joint problems at the elbow can be exacerbated by chronic pressure on the elbow and full elbow flexion and vice versa.

Disclaimer: Please ask your medical practitioner or occupational therapist for more information. This article is based on various research, journals and testimonies.

Why does it happen?

Compression of the nerves is an inability to transmit nerve impulses because compression has damaged nerve fibres either directly, or indirectly by restricting their supply of oxygen.

According to the 2000 study Is Bone a Target-Tissue for the Nervous System?, the authors state that there is strong evidence to suggest that bone can be a “target” of the nervous system.

The authors describe: “it seems reasonable that neural control could also apply to bone tissue, and several clinical and experimental observations support this concept, including Charcot’s neuropathy”.

“The distribution of different nerves during bone formation, combined with the observed effects of transmitters on bone metabolism in vitro, suggest that there is neuroendocrine regulation of bone physiology.”

“Is Bone a Target-Tissue for the Nervous System?” – García-Castellano, J. et al, Nov. 2014

Although there are few nerve fibres in bone, their presence may represent sophisticated and specialised regulatory elements able to deliver time- and site-specific stimuli according to demand.  This suggests that the peripheral nervous system is critically involved in bone metabolism, osteogenesis, and bone remodelling through nerve fibres. Various cells of the musculoskeletal system have receptors for sensory and sympathetic neurotransmitters.

This can be seen in the research Neurogenic Arthropathy and Recurring Fractures with Subclinical Inherited Neuropathy. Neurogenic Arthropathy, common in the hereditary condition Charcot Marie-tooth syndrome, is where due to damaged pain perception and position sense, the bones in the foot can rapidly degenerate. The authors say that patients with neuropathic arthropathy also suffer from recurrent long bone fractures owing to underlying sensory neuropathy.

With fractures, the researchers of the 2000 study for the Iowa Orthopaedic Journal explain: “This difference in healing may imply that in fractures with an abnormal nerve supply the sensory innervation does not recognize anomalous movement of the fracture and, with unstable fixation, nerves may mediate signals that lead to altered bone healing.”

They also suggest that with a neurectomy (surgical removal of all or some of the nerve), bones were less likely to grow back adequately, instead there is a decrease in bone mass.

How can nerves become compressed?

Compression can come from herniated discs in the spine, osteoarthritis can cause bone spurs that can compress a nerve, severe muscle injuries can compress nerves, and even prolonged use of tight clothing such as shoes or skinny jeans. It all depends on the nerve compressed.

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This type of pathology produces pain called radicular pain or nerve root pain leading to pain that may radiate to other parts of the body, such as from the low back down the leg or from the neck down the arm. Leg pain from a pinched nerve is usually described as sciatica.

With a herniated disc most compressed nerves will cause inflammation. This is likely to cause problems when the nerve is squashed between the disc and an adjacent bone.

What happens with injuries?

Traumatic injuries caused by accidents for example, can cause nerves to be partially or completely severed, crushed, compressed, or stretched, sometimes so forcefully that they are partially or completely detached from the spinal cord. Broken or dislocated bones can exert damaging pressure on neighbouring nerves, and slipped disks between vertebrae can compress nerve fibres where they emerge from the spinal cord.

What are the different types of musculoskeletal pain?

Musculoskeletal pain has varying symptoms and causes. Some of the more common types of pain include:

  • Bone pain: This is usually deep, penetrating, or dull. It most commonly results from injury. It is important to be sure that the pain is not related to a fracture or tumour.
  • Muscle pain: This is often less intense than bone pain, but it can still be debilitating. Muscle pain can be caused by an injury, an autoimmune reaction, loss of blood flow to the muscle, infection, or a tumour. The pain can also include muscle spasms and cramps.
  • Tendon and ligament pain: Pains in the tendons or ligaments are often caused by injuries, including sprains. This type of musculoskeletal pain often becomes worse when the affected area is stretched or moved.
  • Fibromyalgia: This is a condition that may cause pain in the muscles, tendons, or ligaments. The pain is usually in multiple locations and can be difficult to describe. Fibromyalgia is usually accompanied by other symptoms.
  • Joint pain: Joint injuries and diseases usually produce a stiff, aching, “arthritic” pain. The pain may range from mild to severe and worsens when moving the joint. The joints may also swell. Joint inflammation (arthritis) is a common cause of pain.
  • “Tunnel” syndromes: This refers to musculoskeletal disorders that cause pain due to nerve compression. The disorders include carpal tunnel syndrome, cubital tunnel syndrome, and tarsal tunnel syndrome. The pain tends to spread along the path supplied by the nerve and may feel like burning. These disorders are often caused by overuse.

How is musculoskeletal pain diagnosed?

Your doctor will begin by conducting a thorough medical history. They will then look for possible causes of your pain, and will also ask if the pain is ongoing or acute.

The doctor will then conduct a hands-on examination looking for the source of the pain. This may include palpating the affected area. This helps him or her locate the origin of the pain. However, to determine the underlying cause of the pain, the doctor will often follow the exam with laboratory tests and X-rays.

How is musculoskeletal pain treated?

Different types of physical therapy, or mobilisation, can be used to treat people with spinal alignment problems.

Medications such as nonsteroidal anti-inflammatories (NSAIDs) may be used to treat inflammation or pain.

In patients with musculoskeletal disorders such as fibromyalgia, medications to increase the body’s level of serotonin and norepinephrine (neurotransmitters that modulate sleep, pain, and immune system function) may be prescribed in low doses.

As if HNPP is not enough to deal with, it seems that there is a corresponding issue of joint problems. In this case, you may have to be extra careful with certain activities that may aggravate both issues, such as walking where it may not only cause numbness in the legs, but actual pain on the bone itself. Keeping vigilant is going to be absolutely vital as a result.

Read: Coping with multiple conditions including HNPP

HNPP · Medication · Physical Health

What to avoid with HNPP

Taxol
Rotation of the model of the Paclitaxel molecule – Andrew Ryzhkov

An interesting discussion emerged on one of the HNPP groups about how certain products can actually have a reverse effect on the nerves. While there are hundreds of results when it comes to what to eat or how to help neuropathic symptoms, it’s rather a different situation when you attempt to search foods, supplements or drugs to be cautious about. So what should we keep an eye on?

Disclaimer: Please ask your medical practitioner or occupational therapist for more information. This article is based on various research, journals and testimonies.

Vitamin C

This a hot topic of debate with some saying that high doses of vitamin C can actually reduce the amount of PMP22 produced, while others saying they have seen some benefits through increased energy. So what’s the deal?

While there is little research to show the effects of vitamin C on HNPP specifically, there has been studies revealing how it affects the inherited condition Charcot Marie-tooth syndrome.

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In the 2004 study Ascorbic Acid Treatment Corrects the Phenotype of a Mouse Model of Charcot-Marie-Tooth Disease, the authors claimed to see an improvement from ascorbic acid (vitamin C). They say: “Ascorbic acid treatment resulted in substantial amelioration of the CMT-1A phenotype, and reduced the expression of PMP22 to a level below what is necessary to induce the disease phenotype.

“As ascorbic acid has already been approved by the FDA [Federal Drug Administration] for other clinical indications, it offers an immediate therapeutic possibility for patients with the disease.”

While the authors saw benefits by reducing the expression of PMP22, it may be difficult to say whether this will have a reverse effect for those with HNPP, which consists of already having a deletion or defection of one of two of these genes.

On the other hand, a study of 277 persons with CMT1A found no significant effect of a daily 1.5-g dose of ascorbic acid after two years. The researchers of the 2011 study Ascorbic Acid in Charcot–Marie–Tooth disease type 1A states: “With respect to the size of the effect of ascorbic acid, if the effect is so small that only a biomarker can detect it, it would be unlikely to be clinically significant in a short-term study but might be important in the long term.

“Findings of this study suggest that ascorbic acid is not efficacious in adults with CMT1A.”

As with any supplements, it’s important not to take an excessive amount. As Thomas Bird, MD, writing for GeneReviews, a genetic resource page for clinicians, states: “No specific treatment for the underlying genetic or biochemical defect exists and no special diet or vitamin regimen is known to alter the natural course of HNPP.”

Always check with your medical practitioner about possible effects and let them know about your condition.

Vincristine 

Vincristine is a known chemotherapy drug used to treat several types of cancer including acute leukaemia, malignant lymphomas and carcinomas. If you’re suffering from multiple illnesses, this is where it gets complicated.

Vincristine_3D
Vincristine 3D structure

The medication is said to be potentially “toxic” to those with peripheral neuropathy due to its side effects that resemble the same symptoms. These can include numbness, pin prick or a tingling sensation to full-blown motor difficulties and neuritic pain.

In one study, 61 per cent of the 23 patients treated for lymphoma developed neuropathy, while only 14 per cent of the 37 patients with other malignant diseases developed these symptoms.

There has also been a case report of a patient with a familial variant of Charcot-Marie-Tooth syndrome. After receiving two 2mg dosages, his weakness secondary to peripheral neuropathy rapidly progressed to complete paraplegia. Acute acoustic nerve palsy has also been reported.

Hence letting your medical team know about the condition that you have and how you are affected can help avert a crisis such as this.

Taxol

Paclitaxel, sold under the brand name Taxol among others, is a chemotherapy medication used to treat a number of types of cancer. This includes ovarian cancer, breast cancer, lung cancer, Kaposi sarcoma, cervical cancer, and pancreatic cancer.

toxic
“Toxic Neuropathies” – Kelley’s Essentials of Internal Medicine, H. David Humes, 2001

Drugs and medications such as taxol that are known to cause nerve damage should be avoided, says Vinay Chaudry, MD, in a 2003 study Toxic Neuropathy in Patients With Pre-Existing Neuropathy. Chaudry says that six patients with pre-existing neuropathy, who received “non-toxic” dosages of known neurotoxic agents including taxol, had significantly worsened. He concludes: “functionally disabling toxic neuropathy can occur in patients with pre-existing neuropathy at standard doses.”

The Charcot-Marie-Tooth Association has maintained a “Medical Alert” list of potentially neurotoxic medications. They define taxol as a “definite high risk” to those with the condition even if the individual may not present any symptoms.

Fluoroquinolones

The fluoroquinolones are a family of broad spectrum, systemic antibacterial agents that have been used widely as therapy of respiratory and urinary tract infections. It is an antibiotic used to treat some infectious or even common diseases.

However, in 2016, the U.S. Food and Drug Administration advised that the serious side effects associated with fluoroquinolone antibacterial drugs generally outweigh the benefits for patients with neuropathic issues.

“The peripheral neuropathy reported with fluoroquinolone administration can be severe, debilitating, and permanent.”

A Case Report on a Rare but Serious Debilitating Side-Effect of Fluoroquinolone Administration – Jacquelyn K. Francis and Elizabeth Higgins, MD, 2014.

In a statement, the FDA said: “An FDA safety review has shown that fluoroquinolones when used systemically (i.e. tablets, capsules, and injectable) are associated with disabling and potentially permanent serious side effects that can occur together. These side effects can involve the tendons, muscles, joints, nerves, and central nervous system.”

In one 2014 case report for the Journal of Investigative Medicine, a 57-year-old woman was treated for a urinary tract infection with a ciprofloxacin, an antibiotic under the fluoroquinolones umbrella. She had already been in remission for 12 years after suffering from trigeminal neuralgia. Two years after the initial onset of symptoms, she continued to suffer from polyneuropathies chronologically related to ciprofloxacin use.

As the report concludes: “the peripheral neuropathy reported with fluoroquinolone administration can be severe, debilitating, and permanent. It is for this reason that physicians need to practice due diligence when prescribing not only antibiotics, but any drug.”

While it’s important to understand how the wrong drugs can interact with hereditary neuropathy, it’s even more essential to talk about it with the right people. Letting health professionals know about your current situation will allow them to prescribe the right medication. As one HNPP’er says because there’s an assumption that something is safe, doesn’t mean it’s safe for us.