HNPP · Mental Health · Physical Health

Introduction to HNPP

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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.

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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).

HNPP · Mental Health

Love and dating in the time of HNPP

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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.

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 Sj√∂gren‚Äôs 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 ‚Äď and relationships.”

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 deserve love like everyone else – if you’re constantly down on yourself and steeped in negative thinking, you’re not ready to date. Books that I can recommend are¬†How to Live Well with Chronic Pain and Illness: A Mindful Guide by¬†Toni Bernhard, who was a law professor for 22 years at the University of California, before falling ill and has written several very useful books. As well as You Can Cope with Peripheral Neuropathy by Mims Cushing and Dr. Norman Latov.
  • 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 ‚Äď they understand your limitations and doesn’t try to convince you otherwise.
  • Adaptable ‚Äď 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 ‚Äď they are there for you when your illness becomes too much to handle on your own.
  • Humorous ‚Äď they try to make you laugh during tough times (and good times!)
  • Respectful ‚Äď they treat you well and admire your courage without “babying” you.
  • Supportive ‚Äď they ask questions about your illness and strive to learn more about it.
  • Responsible ‚Äď 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.

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‚ÄďMadison 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, ‚ÄėI 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.

Read: HNPP and the impact of chronic pain on relationships

HNPP · Physical Health

The effects of HNPP during pregnancy

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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 ‚Äď seemed like something that just happens to pregnant women.”

A mother with HNPP from the blog Chronic Pain Journal

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 ‚Äď 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 ‚ÄúRed Button‚ÄĚ got pushed and a bomb exploded in my Central Nervous System.”

A mother with HNPP from the blog Chronic Pain Journal

According to Dr. Guy Lepski and Dr. J.D. Alderson of the Department of Anaesthesia, Northern General Hospital, Sheffield, UK, dense local anaesthetic blockade should be avoided as it may mask a compression neuropathy. They recommend the following management principles for doctors in the 2001 study Epidural Analgesia in Labour for a Patient with Hereditary Neuropathy with Liability to Pressure Palsies:

  • 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”.

In addition to these suggestions, David H. Chestnut alongside several other authors have written about safeguards to minimise peripheral nerve compression. In¬†Chestnut’s Obstetric Anesthesia: Principles and Practice E-Book, they advise:

  • 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.

A report by French researchers¬†S. Berdai and D. Benhamou from the Department of Anaesthesia and Resuscitation, Bic√™tre Hospital, Le Kremlin-Bic√™tre, suggests that it is possible to have an epidural as well as spinal anaesthesia during labour. In the report¬†Regional Anaesthesia for Labor and Delivery in a Parturient with Neuropathy with Liability to Pressure Palsy, a woman had two cesarean sections, one with an epidural that resulted in no “neurologic complaints in the postpartum periods”.

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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¬†őľg/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.

Read: What to avoid with HNPP

HNPP · Physical Health

Are facial issues associated with HNPP?

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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‚Äôs 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).”

User on the BrainTalk Communities Forum

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‚Äôs¬†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‚Äôs palsy seems to have a different etiology than HNPP. The same applies to familial or recurrent Bell‚Äôs 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‚Äôs 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.

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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 S√£o 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.

Read: The difference between HNPP, CMT and CIDP

HNPP · Physical Health

The difference between HNPP, CMT and CIDP

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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.

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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.

CMT

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‚ÄÖMb 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).

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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‚ÄźMarie‚ÄźTooth disease type 1A (CMT1A), Dejerine‚ÄźSottas 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

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.

CMT1E

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

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.

CMT2

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 ‚Äúaxonal‚ÄĚ 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

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).
  • CMT4C is caused by defects in the¬†SH3TC2¬†gene.
  • CMT4D is caused by defects in the¬†NDRG1¬†gene.
  • CMT4E is caused by defects in the¬†EGR2¬†gene.
  • CMT4F is caused by defects in the¬†PRX¬†gene.
  • CMT4H is caused by defects in the¬†FDG4¬†gene.
  • CMT4J is caused by defects in the¬†FIG4¬†gene.

Source: CMT USA

Chronic Inflammatory Demyelinating Polyneuropathy

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.

Read: Why do some HNPP results appear negative?

Read: HNPP, belief and the impact of misdiagnosis

 

HNPP · Mental Health

How the internet can help HNPP sufferers

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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?

Read: How HNPP can cause isolation

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‚Äôre 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.
  • Google Voice-to-Text – for those with hand issues, Google‚Äôs 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.

Read: Can new technology help HNPP sufferers?

HNPP · Physical Health

Feeling hot and cold with HNPP

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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‚Ķ 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.

temperature
Simplified cartoon depicting thermoregulatory pathways – Max Delbr√ľck Center for Molecular Medicine

However, scientists at the Max Delbr√ľck 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‚Äôt have a full shower.¬†It‚Äôs a foam that is antibacterial and all you do is rub it in wherever required. Instead of masking odours, it treats the cause.¬†. It‚Äôs 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‚Äôt 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‚Äôt have the energy to shower one day, it‚Äôs completely okay.

Read: When small tasks become daunting with HNPP

HNPP · Mental Health

HNPP and the guilt of depending on someone

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Dedicated to all the wonderful friends and family in the world helping those with HNPP.

Last week was particularly frustrating. After two weeks of eating TV dinners, my friends came over and cooked me my first proper meal in a while. And following the warm, fuzzy feelings of love and kindness, guilt began to set in. So why do we feel guilty about our attempts to cope with HNPP and asking for help? This may not be the first post about guilt, however, it’s an important factor to think about within relationships.

Feeling guilty comes from the notion that you’re doing something bad or wrong when you don’t meet your self expectations or when you don‚Äôt meet the expectations of others. But in being sick and in being physically limited by your illness, you‚Äôre not doing anything bad or wrong. When it comes to an illness, there is a difference between doing something and being something.

Kathy Charmaz, Professor of Sociology at Sonoma State University in California, analysed the consequences of the loss of self in the 1983 article A Fundamental Form of Suffering in the Chronically Ill. In it she says that because suffering loss of self develops out of daily life, social psychological conditions contribute to that suffering.

She states: “When ill persons attempt to return to the normal world and fail, they usually feel profound disappointment and grief for their lost self-images. As discrediting events recur, the chronically ill begin to see themselves as permanent failures and as burdens to others.”

The powerlessness of  not being to ‘perform’, and therefore becoming dependent on others can be a major source of worry for some who socially identify on being independent. My friends may see me hovering around the kitchen as they cook for a reason.

Read: HNPP and the impact of chronic pain on relationships

Professor Charmaz adds: “Since becoming a burden is rooted in physical dependency and immobilization, ill persons usually recognize that their illnesses have become their major source of social identity […] Becoming a burden affirms and intensifies immobility and stands in symbolic contrast to the way these persons wish to conceive of themselves.”

Becoming ‘a burden’ means that a person no longer fulfils the obligations implicit in past relationships. Even though what constituted ‘fulfilling obligations’ may only be realised when someone is no longer able to do it, guilt and shame about burdening others usually follows. And perhaps the worst part of this sense is the feeling of uselessness to yourself and others even though those roles and obligations may never have explicitly been expressed.

What becomes obvious is that there is a heightened sense of self-concern about the person we see ourselves becoming and about valued self-images from the past which we have lost after being diagnosed with a chronic illness.

“Guilt was something that forced me to overcompensate in every aspect of my life. I was overindulging and swimming in my own guilty conscience. I thought I had a right to feel guilty because I wasn‚Äôt able to participate in physical activities with my children or because I was no longer cooking meals from scratch or that our home wasn‚Äôt impeccably clean. I spent so much time overreacting that I didn‚Äôt see the bigger picture, where my children didn‚Äôt care about any of these things – at least not in the way I did.”

 Lana Barhum – Rheumatoid Connect

In the study, Professor Charmaz alludes to the fact that as a result of negatively comparing our current level of functioning to past levels and previous personal performance standards, individuals “suffer tremendous amounts of self-blame and guilt”.

Consequently, she goes on to add: “they may devote much energy to apologizing to others for their felt inadequacies. Indeed, they may apologize for their very existences because they too share the assumption that in order to be fully human, one must be able to function fully.” This may in turn result in those suffering from chronic illnesses to try and overcompensate.

How does this manifest?

If you do not have a form of chronic illness, you may be perplexed right now. There are many different sources of this guilt. These may include:

  • Physical burden – chronic pain comes in a variety of forms, but in the end it can be debilitating. Those of us who need the help of caretakers can feel as if we are putting our family and friends out and draining their energy.
  • Financial burden – whether you are a young person and have parents that pay for all or some of your medical expenses, or you have a spouse and/or a family, the cost of having a chronic illness can be enormous. Many of us seek alternative therapies to help us heal, which are often not covered by insurance. This is exacerbated if the person with chronic illness is unable to work to cover these costs. Professor Charmaz adds: “When fortunate enough to work, ill persons frequently feel they have to restrict all other activities in order to manage their jobs. But when forced to leave work, they usually just live marginally and leave their prior social worlds entirely. Under these conditions, they suffer a loss of friends and often drastically alter their lifestyles.” This adds to the sense of guilt of not partaking in activities.
  • Cancelling plans – those of us on the chronic illness end feel bad for letting our family or friends down, disrupting the plans, and not being able to socialise and catch-up. Often the pain or fatigue associated with chronic illness is not noticeable and therefore the recipients do not understand or believe it.
  • Unable to go to work – this can be particularly difficult as there are feelings of guilt over not being able to turn up, fear of possible reprisals, as well as self-reproach of letting your boss or colleagues down.

How to stave off feelings of guilt

  • Learning to let go – accepting your circumstances is vital to letting go of guilt. Guilt makes being ill much more difficult and causes emotional stress that is damaging to our bodies and spirits. When you are feeling stronger, you can take on the world without guilt or pity and with motivation but in the meantime, give yourself the same kindness and sympathy you would give to others. Being ill is not an identity – the only one who gets to define who you really are, with all your baggage, flaws and perfect imperfections, is you.
  • Focus on getting better – during flare-ups, your responsibilities may feel like mountains to climb. However, illnesses are here for the long haul and while you may feel good for a day, or week or even a month, it only takes one flare to send you back to bed or having to miss work. In this way, focusing on getting well takes your concentration off the guilt. Overcompensating can end up setting you back.
  • Talk to your friends and family – if you feel embarrassed, take them aside and tell them why you’re feeling guilty. Unloading your thoughts and feelings can be so freeing, and it may help you and your friends understand the grief that can be associated with the loss of self. If you have to cancel on anyone, feel free to them exactly why.
  • Keep a gratitude journal – you can write in this daily or however often you feel like. It can be a recount of your day, your list health or life goals, and more. Seeing the great things, small or big in your life, reminds you of the abundance in your life despite a chronic illness.
  • Avoid monitoring everyone else – I would actually recommend not to look at other people’s social media accounts too much because it can exacerbate feelings of guilt for not being able to perform or take part in the same things. It can also make you feel lousy when you’re trying to avoid thinking about your ‘past’ self.
  • Contribute in a way that works for you – you may not be able to go clubbing or traipsing around art galleries, you can still offer advice and support, share laughs, and enjoy activities that work for you. Maybe you can‚Äôt work full time and feel guilty that you aren‚Äôt helping your spouse. Yet, if you are the one cooking healthy meals, doing housework, driving the kids and helping with homework, those are some vital ways to support a family.

When any of the above scenarios are in play, guilt is often self-inflicted, which is hard enough. But when family or friends add to the guilt, it makes those feelings come alive and place a much heavier burden on the chronically-ill person. For our own health it‚Äôs important to thwart these feelings and thoughts. And when in doubt, be open and honest with your friends and family and let them know how you feel.

Read: How to cope with grief and loss 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.”

‚Äď 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 Рlow blood pressure Рwhich 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-ő≤-hydroxylase deficiency and of cases with genetically proven double trouble.”

Dopamine-ő≤-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.

Gray793 (1)

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 Paran√° (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 Рhearing 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