HNPP · Physical Health

Is walking good for those with HNPP?

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From walking 15km a day to walking 15 minutes a day, my walking journey has been chaotic to say the least. But it was another essential question I asked my neurologist. Is it still possible to walk when you’re in pain?

It is shockingly difficult to do for most people living with HNPP, and yet it seems rather depressing to completely forgo what seems to be such a straightforward task. It’s a bit of a vicious cycle as it is difficult to exercise with painful neuropathy and yet it’s very important to stay active.

The major issues that seem to occur with HNPP include:

  • clumsiness
  • slight difficulty in walking because of trouble picking up the feet
  • weak leg muscles
  • fatigue
  • foot deformity (very high arched foot/feet)
  • difficulty lifting foot at the ankle (foot drop)
  • curled toes (known as hammer toes)
  • loss of lower leg muscle, which leads to skinny calves
  • numbness or burning sensation in the feet
  • “slapping” when walking (feet hit the floor hard when walking)
  • weakness of the hips, legs, or feet
  • leg cramps
  • loss of balance, tripping, and falling

These symptoms obviously cause problems while walking hence it seems next to impossible to even attempt it.

According to Patty Bonsignore, a Nurse Educator at Joslin Diabetes Center in Boston, U.S. dealing with neuropathies, it’s best to do exercises that are non-weight bearing, such as swimming, water aerobics, rowing and chair exercises. However, if walking is the exercise you prefer, and easiest for you, then it is important to make sure your shoes fit correctly, and that you have comfortable, well-padded socks that wick away moisture.

Disclaimer: Please ask your GP or medical practitioner before attempting any exercise included on this website.

Bonsigore suggests seeing a podiatrist or a pedorthist (a professional trained in creating customised footwear) who can help determine whether your shoes are fitting correctly, as correctly fitted shoes are an easy and important way to prevent foot issues.

She adds: “Neuropathy can also affect balance and shift the way you bear weight on your feet. Alterations in weight bearing can put you at greater risk for falls and foot ulcers. If you are having problems with balance, ask for a referral for physical therapy.”

Before you begin to attempt walking

According to CMT UK, a website dedicated to the inherited condition Charcot-Marie tooth disorder, stretching the calf daily is something that everybody with CMT or HNPP should get into the habit of doing to keep the calf muscles lengthened and slow down the development of the deformity.

These stretches are easy to perform and can be incorporated into your daily routine, for example during your morning shower when your muscles are warm and relaxed (just be careful not to slip) or standing up to a work surface while waiting for the kettle to boil.

Before exercising

Before you start to do any exercises, think about the following:

  • Have you talked to your physiotherapist, family doctor or gym instructor about the right exercises and level for you?
  • If needed, have you considered orthoses? The right one can make exercising more efficient and enjoyable.
  • Remember to pace yourself – don’t overdo it. And if you have worked hard one day, think about relaxing the next.
  • Put together an exercise plan – build up slowly so as not to injure yourself. (The 10% rule is a good one to stick to – aim to increase your exercise levels by no more than 10% to 15% each week.)

Why you wonder?  In these types of conditions, the muscles on the shin tend to get weaker first which results in a ‘foot drop’. The stronger calf muscles overpower the weaker shin muscles setting up an imbalance between the two. Because of this the calf muscle will gradually get shorter and stiffer, as will the Achilles tendon, further increasing the foot drop.

Because the ankle needs to be at a right angle for the toes to clear the floor when walking, the result is an increased chance of tripping when walking, increased difficulty getting the heel to the floor and a greater chance of sprained ankles.

Orthoses can play an important role in helping to maintain flexibility, joint range and prevent the muscles tightening and shortening. This can be by means of insoles which may be thicker on the outside of the foot than the inside so the foot is stretched when weight is put on it. Orthoses used through the day can provide a very effective stretch as well as holding the foot in the best position for walking.

Stretching exercises

These exercises are only a general guide. It is strongly recommended that you
consult a physiotherapist to put together an exercise programme tailored to your individual needs.

Disclaimer: If you experience any pain or difficulty doing these exercises, stop immediately and seek advice from your family doctor or physiotherapist.

  • Calf stretch:
    • With finger tips hold onto a wall or work surface.
    • Keep your head up and back straight.
    • Place one foot forward and one foot back with the back foot and heel fully on the floor. Make sure your toes are pointing forward.
    • Let your front knee bend but keep your back knee straight.
    • You should feel a stretch in the calf.
    • Hold still for 20 to 30 seconds. Repeat three times and then swap legs.

calf stretch

  • Lower calf stretch:
    • Get in the same position as above.
    • Step your back leg forward so the toes are in line with the heel of the other foot.
    • Letting both knees bend, sink down with your weight on your back leg.
    • The stretch will not be as strong as with the previous exercise.
    • Hold still for 20 to 30 seconds. Repeat three times and then swap legs.

lower calf

  • Upper legs:
    • Sit on the edge of your bed or a dining chair.
    • Keep feet hip width apart. Keep your arms by your side.
    • Stand up fully then slowly sit down.
    • Repeat the movement 10 times.
  • Standing balance:
    • Stand near a work surface or wall.
    • Stand with your feet together keeping an upright posture.
    • Hold for as long as possible using fingertip support on the work surface/wall as required.
    • If you are able to, keep this position and turn your head right and left. Repeat the movement 10 times.
    • If this is easy, extend your arms and rotate them around to the right and left. Repeat the movement 10 times.
    • My physiotherapist recommended doing this while standing on a cushion or foam surface to test the balance a bit more.

This is for stroke recovery patients – however, these  balance exercises were recommended to me by my neurophysiotherapist.

That being said, all of these exercises should be done with a touch of caution so please don’t overdo it.

Walking

If you really want to walk here are some tips worth noting:

  • Use walking aids – if necessary, take along a walking stick or your walker. Researchers in the U.S. showed that the use of a cane reduced the load on the knee by 10 per cent. By reducing knee joint stress,  the pain, swelling, and stiffness is less likely to become debilitating. And remember, even  expert hikers use trekking sticks.
  • Padding – make sure you wear all adequate padding such as knee pads, arm pads, splints and general orthotics if necessary.
  • Stretch before walking – See above for exercises.
  • Stop as soon as you feel pain – this also includes weakness in the foot.
  • Rest in between if necessary – it’s not a race, so don’t beat yourself up if you can’t manage.
  • Know your limits – if you know 10 minutes is enough to make you start feeling pain or fatigue then make sure you walk around the corner and make it back home in time.
  • Try focusing on your body mechanics – are your knees softly absorbing the impact of each step? Is your pelvis doing a waddling motion back and forth or is your pelvis staying level and steady? Are your shoulders back with your chest out? Each and every part of your body needs to be an active participant in your walk and doing their jobs correctly.
    • Head and shoulders: Keep the head up and centered between the shoulders, with eyes focused straight ahead at the horizon. Keep the shoulders relaxed but straight – avoid slouching forward.
    • Abdominal muscles: It is important to actively use the abdominal muscles to help support the trunk of the body and the spine. To do this, keep the stomach pulled in slightly and stand fully upright. Avoid leaning forward as you walk.
    • Hips: The majority of the forward motion should start with the hips. Each stride should feel natural – not too long or too short. Most people make the mistake of trying to take too long of stride.
    • Arms and hands: Arms should stay close to the body, with elbows bent at a 90 degree angle. While walking, the arms should keep in motion, swinging front to back in pace with the stride of the opposite leg. Remember to keep hands relaxed, lightly cupped with the palms inward and thumbs on top. Avoid clenching the hands or making tight fists.
    • Feet: With each step, land gently on the heel and midfoot, rolling smoothly to push off with the toes. Be mindful about using the balls of the feet and toes to push forward with each step.
  • If trouble arises – shorten up your strides and slow down. Walking is a concerted effort that requires you to be mindful. Sometimes you need to relearn how to walk after experiencing a painful injury. That is when a physical therapy tune-up can be so very helpful.
  • Good walking shoes – your body will appreciate the added cushioning and support. According to peripheral neuropathy sufferer and author, Mims Cushing, Reebok lightweight trainers / gym shoes is a godsend to walkers. Find out more about the best shoes for fragile feet here.
  • Socks – in the same vein, get appropriate socks. People with neuropathy usually wear non-binding, with extra wide funnel tops. The seams are smooth and the soft, cushiony soles will not irritate your feet. If your feet sweat a lot, consider buying acrylic socks rather than cotton.
  • Inserts and insoles – inserts can often offload pressure points on your feet and will reduce the chance of ulcers
  • Avoid uneven terrain – this requires planning your route beforehand, and making sure you do a circular journey so it returns you home rather than walking further and further away. I walk near parks because if needs be I can take off my shoes and stand on the grass.
  • Plan your route beforehand – as noted above, circular journeys are important so that you make it home in one piece. Apps such as WalkIt and Map My Walk are fantastic for route mapping and journey suggestions.
  • Water – absolutely essential to keep hydrated throughout.
  • Snacks – I get exhausted quickly, but quick snacks such as rice cakes, cereal bars or even glucose tablets can keep the fatigue at bay.
  • Distractions – for those that need it, listening to music, books and podcasts sometimes helps ease the nerves of walking. Focusing on your breathing and posture may make the exercise less frightening.
  • If it’s all too much – then start on a treadmill, and build up slowly.

Walking is no walk in the park sadly, but it may get a little better each time if you make sure you don’t overdo it, listen to your body, and remember it’s a work in progress.

HNPP · Physical Health

When small tasks become daunting with HNPP

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It’s taken me a week to prepare myself to wash my extremely long hair. The task seemed almost impossible after feeling fatigued the past several weeks. It got me thinking how do those with HNPP manage with menial chores?

People with chronic illness often have problems with housecleaning, chores and the control of clutter. Once a home reaches a certain stage of disarray, it can seem hopeless. Living this way contributes to emotional distress and social isolation, as people feel embarrassed about having guests or generally being near people.

“Have nothing in your house that you do not know to be useful, or believe to be beautiful.”

William Morris

It takes a combination of a lot of things to go from chaos to comfort. Identifying small practical steps you could take and then to do them one at a time. Putting your priorities in order however, is not an easy thing to do, especially when you are chronically sick. Even the simple act of making a small list gives can give you a headache.

After undertaking an interview to fill in a disability form for extra help, it became apparent how much help I needed. The interviewer said that if a task takes twice as long as previous while able-bodied – you do require some support.

So where to begin?

Now obviously, hiring a cleaning service or enlisting help from family members would save you a lot of heavy work. But that isn’t always an option. What’s realistically possible for you depends on your personal situation and health status, but here are general tips to keep a relatively clean and organised home if you’re chronically ill.

However, these are particularly important before commencing:

  • Rest – being tired doesn’t mean you’re being lazy. If you feel sleepy, then rest! Siestas will become your best friend. Schedule them in if needs be. And switch off your electronic devices.
  • Priority lists – take the things that you know cannot be avoided that day and put them at the top of your priority list. Things like feeding yourself / and your family, doing laundry. Then, take those same things and think about how you can simplify them. Slow cookers are great to just make a meal in one.
  • Delegating – for those with families who are more able, you have the gift of many hands. For others, it may be a good friend that you can call upon in a time of need. Learning to ask for help is a bit of skill in itself. The saying that many hands make light work is so true.
  • Do chores in an ‘ergonomically correct’ way – to overcome physical limitations or minimise pain, you might unknowingly adopt awkward postures that aggregate your symptoms. So pay attention to how you carry your body as you’re dusting high shelves or mopping up the floor. For example, try to keep your shoulders relaxed, use a step to reach spaces above your head or bend through your knees when lifting something off the ground. Stand firmly on both feet, hip-width apart, while you’re doing the dishes and rotate between different chores to avoid injury caused by repetitive motions. Think of housekeeping as a workout (which it is!) that needs to be performed with body awareness.
  • Substitution and flexibility – somethings unexpected always come up. You may need to practice how to be flexible. I used to be very OCD with cleaning my flat, now I just shrug my shoulders and wait for when the time is a little more suitable.
  • Congratulate yourself – come to see that, like other chronically ill people, you are always making a huge effort, so you always have something for which you can congratulate yourself.

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Housekeeping

  • Create systems to deal with clutter – sort the mail as soon as it arrives, instead of letting it pile up. Do a little washing up daily to avoid pyramids of plates – even better if you have a dishwasher where you can wait several days to fill it up. Dust off crumbs when you finish a meal. If you can’t that day, try it on the next.
  • Change things gradually – if you have stacks of unused jars, bottles, newspapers, think about what you really need and if it is really necessary. Start throwing away bits and bobs, with your weekly recycling. This includes clothing, time yourself for 10-15 minutes, cleaning your closet a little every day. It may not clear it all – but it will start bringing the clutter down.
  • Create simple routines – this can include sorting laundry or laying out each day’s clothes in advance. If you have guests, make sure everyone takes their own plates, a serving dish and silverware to the sink.
  • Automate away – thanks to technology, many routine tasks can be set up on a schedule, from paying your monthly rent and utility bills to refilling your prescriptions. So find out if there’s a service or feature that will do recurring jobs automatically for you.
  • Simplify your meal planning – meal planning is an excellent way to limit tiring trips to the supermarket, but it can be daunting to figure out what’s for dinner. To make things easier, you could collect a month’s worth of healthy recipes for each season and use that to create a weekly menu. If that’s too much hassle for you, you can also build your own personalised template with seven days worth of delicious dinners.
  • List the grocery items you buy regularly – that way you’ll never forget to buy milk again.
  • Keep house supplies on each floor or generally accessible – having a bucket with spray bottles, microfiber cloths and sponges at hand wherever you need them saves you from needlessly carrying items up and down the stairs. Place baskets at the bottom of the stairs to collect things that need to be taken upstairs.
  • Create smart cleaning routines – clean rooms from top to bottom, so you won’t knock down dust from higher cupboards and shelves on recently vacuumed floors.
  • Experiment with other energy-saving tricks – this may be hanging your clothes instead of folding them, sorting dirty laundry in separate hampers and collecting all used home textiles (towels, rags, (table) cloths, bed sheets) in one go.
  • Consider a “no shoes indoors” policy – it drastically reduces the amount of dirt and germs tracked in.
  • Build in buffer time – don’t leave things like grocery shopping and laundry until the last minute, right when you run out of food and clean clothes, that just adds unnecessary stress. Also, don’t plan too many cleaning sessions in a row, but leave enough time for rest in between.
  • Find ways to conserve energy – sit down while you’re peeling potatoes or folding towels. Grab a stool during cooking if you have trouble standing. Consider home deliveries when going out to the shops is a tiring ordeal for you.
  • On low-energy days – it may feel like all you accomplish is keeping things in their proper places. But that is an important part of housekeeping.

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Shopping

  • Check energy levels – if you’re extremely tired, divide the shopping list up into a couple little trips over several days.
  • Driving to stores – if possible park near a cart corral so it’s easy to drop it off when you’re done.
  • Pick a day that isn’t as crowded – if you’re not sure what days are less crowded you can always ask an employee. Or even check Google which shows when the quietest times are of most stores.
  • Grab a shopping trolley instead of those little baskets – even if you’re running in for three little items, the odds are you’ll pass the water or juice and remember you’re running low. Now you’re left trying to lug those heavy extras around with you. Also, the cart is great to help keep your balance and offer a bit more support while walking.
  • Bring a helper if you can – that way if you’re getting too tired to even let go of the cart you’ll have an extra set of arms to grab what you need. They also come in handy if you happen to remember you forgot an item, they can run back and get it.
  • Getting ill/tired – if you just can’t continue don’t beat yourself up. If you see an employee, let them know that you’re sick and have to leave. They’d rather be notified so they can put away the frozen food instead of happening upon a full trolley with thawed items that now need to be thrown away.
  • Arrange items on the conveyor belt according to where they go in the house – that way all the body wash and shampoo are in the same bags so you can just carry that bag to the bathroom. This also helps once you get home.
  • Don’t be afraid to ask – if you’ve used a trolley and the store doesn’t allow them to leave the building you can ask the bagger to grab the cart so you can load the groceries in there to take out to your car.
  • Online shopping – it’s an absolute godsend. You can sit in the comfort of your home, find what you need to buy online without even getting up. It does charge a delivery fee and most stores have minimum charge so wait for your big shop before ordering.

Assistive equipment

Having a helping hand when you suffer from pain, fatigue, weakened muscles or other symptoms can improve your independence and energy levels.

  • Put your appliances to work for you – the dish washer, dryer, a programmable slow cooker. You could even consider investing in smart helps around the house like a vacuuming robot.
  • Use supportive tools to make daily activities easier – stools, non-slip mats, long handled gardening tools or kitchen equipment specially designed for people with limited mobility and strength. Google which helpful aids are available for your specific health problems.

As anyone suffering with a chronic illness knows there are good days and bad days. And it’s important to remember you’re allowed to rest, ask for help and be as flexible as possible. Hopefully then, daily tasks will seem a little less daunting.

HNPP · Physical Health

Best ergonomic work space for HNPP

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Work-related issues can be an increasing concern for those with HNPP. Your body is designed for regular movement, but many spend the bulk of their day sitting still in awkward positions, which is worse with neuropathy. After just 20 minutes hunched over in a chair, blood pools in the legs and immense pressure builds on the spine. Hence employees in desk-bound jobs have a huge problem of exacerbating their symptoms.

The Centers for Disease Control estimate that 1.9 million people experience carpal tunnel syndrome as a result of sitting for long hours. Hence renovating your work space is the key to creating a more ergonomic space so you can avoid nerve compression and other discomforts of working at a computer for long hours.

As many HNPP’ers are already aware, carpal tunnel syndrome is sometimes part and parcel of having hereditary neuropathy. Repetitive hand and finger movements, especially typing and data entry, can cause tissues to swell and press on the median nerve, which travels through the wrist and extends into your hand.

Tingling, burning or itching sensations in your hand, along with weakness in your hands, fingers and wrists, are early signs. And while short-term surgery may relieve symptoms, it may not in the long-term.

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

Setting up your workstation & posture to be ergonomically-correct

Human beings were not made to sit in a chair for 8 hours per day, yet with the commonplace “desk job,” sitting in front of a computer has become a way of life. However, there are several basic workstation improvements that can be suggested to decrease strain and minimise neuropathic symptoms, ranging from reorganising the items on your desk to utilising ergonomically designed chairs.

Standing

If you’re working while standing, ensure that you’re wearing comfortable shoes, preferably on a cushioned mat, and that your back and shoulders are straight. Try to keep your arms as unbent as possible to reach the keyboard, mouse and office supplies on your working surface.

Sitting

Chair positioning

An adjustable chair or work desk is your best friend when it comes to preventing leg and lower back pain at your desk. Always try to adjust your station to you, rather than you adjust to your station, in order to maintain relaxed muscles in neutral positions. When sitting in a chair, your feet should be flat and your legs should form a 90° angle at the knee.

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If the angle is less than 90°, adjust the chair up slightly until your thighs are just lightly supported. You don’t want all of your weight resting on the chair because that causes prolonged pressure on the thighs.

As the Canadian Centre for Occupational Health and Safety says wearing high heels is not recommended, as this would hinder keeping your feet in a flat, neutral position, and put a lot of unnecessary pressure on the body. If you have to wear heels, carry some flat shoes with you or keep them at your desk so you can change them when there is too much strain on your feet.

Arm positioning

If you’re working while seated, adjust your chair or desk so that you don’t bend or put too much pressure on your wrists when you use your keyboard and mouse. The more relaxed your elbows and wrists are, the more beneficial blood flow is reaching your hands and fingers, and the less your tendons will strain while performing repetitive motions.

During a busy work schedule, it can be easy to lose your relaxed alignment. Many people lean in, draw their arms up high, lay their palms on their desks, and use equipment that requires too much strain to operate repetitively.

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Eye positioning

Once your chair and keyboard are adjusted correctly, make sure your computer monitor is at arm’s length in front of you. Also ensure the top of the computer screen is at or below eye level. This will minimise neck strain and ensure you’re not tilting your head up or down for extended periods of time.

After this adjustment, if you find your monitor is too low, prop it up with a stand or try to adjust it by putting a book or two under the feet of the monitor.

In general, it’s important to keep things within easy reach, and plan ahead based on the task you’ll be performing.

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Tools to consider for your workstation
  • Desktop computer – while laptops are becoming more popular, their design is inherently awkward. The keyboard tends to be too high if you’re looking at the screen at eye level, while the screen may be too low if the keyboard is at a 90° level. Laptops are fine for occasional use, but for extended working hours, purchase either a separate monitor or keyboard and keep your laptop on a hard, sturdy surface.
  • Palm and wrist rests – Palm and wrist rests provide support and encourage appropriate posture as you navigate your mouse or type on your keyboard. To use the above type of pad correctly, rest the heels of your palms (not your wrists) on the cushion. It’s important to keep your wrist splints on so that they do not bend.
  • Functional desk – Computer desks with roll-out keyboard trays have the best design for long working hours. The keyboard is low for comfortable typing while the raised surface puts the monitor at eye level.
  • Comfortable chair – A chair with good backrest for lumbar support, armrests and head rests and a comfortable reclining function that allows you to sit at a posture of 100 to 110 degrees is essential to your daily work. According to the University of Pittsburgh’s Workplace Health & Safety Program, a reclined position significantly decreases postural muscle activity and pressure in the lumbar spine. This makes for a more relaxed, sustainable sitting position than the erect 90-degree posture often portrayed.
  • Chair cushion – A cushion for your chair can alleviate pain, numbness and stiffness in the lower legs. It also works wonders for low back pain.
  • Ergonomic keyboards – 
    • Ergonomic keyboards keep your wrists and hands in a natural position, promote proper typing habits, and they come in a variety of builds & styles to fit your needs. Before making a decision, visit an electronics store’s keyboard section to test out the style that’s right for you.
    • Mechanical keyboards use switches that register a key press almost immediately. The keys can be lightly touched to type, making their use considerably more easy on the fingers and joints.
  • Ergonomic mouse – An non-ergonomic computer mouse puts undue stress on your forearm because, if you haven’t noticed, your arm sort of twists when using it. What to consider when buying a mouse:
    • A natural grip – it has to be the right shape and size for your hand. Size is everything, if it’s too small, you’ll put undue pressure on your hand.
    • Customisation – make sure you buy a mouse for the hand that you use to utilise it.
    • Variety – consider the type of mouse you feel comfortable with such as vertical, trackball etc. It’d be worth going into a computer store and testing them out.
  • Under-desk trays –  a keyboard and mouse tray under your workstation will help you keep your posture relaxed.
  • Pens with ergonomic grip – Ergonomically-designed pens help reduce writing stress and fatigue. Wide-barrelled with a cushioned grip, these pens reduce the force needed to hold the pen.
  • Standing desks – if you can stand it’s important to set up a standing desk the right way. Your computer screen should sit just above resting eye level, so you have to look up slightly to see it. This keeps you from hunching over or slouching as you tap away on your keyboard, as well improve posture.
  • Foot rest – Swelling occurs when blood pools in the feet from long periods of inactivity. There are many different types of ergonomic design foot rests to consider – from the half-cylinder foam design that prevents the legs from dangling and provides added supportive comfort, to the rocking foot rest which simulates motion and encourages circulation.

The best person to ask about your workstation is an occupational or vocational therapist. Having a good ergonomic environment can help prolong possible flare ups with HNPP. It isn’t a long-term miracle cure, but at least it will not make it any worse.

HNPP · Physical Health

Why do some HNPP results appear negative?

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Genetic testing for HNPP can be daunting, mostly because it can be a confirmation of all your worst fears. At the same time, it can come as a relief for many, as it marks the start of an official journey. But what happens when your results turn up negative?

As the NHS website explains, we need two peripheral myelin protein-22 (PMP22) genes, one from each parent, for the normal development of the peripheral nerves. These genes provide instructions for the creation of PMP22 protein, which makes up the protective outer layer of each nerve. This outer layer, which is a bit like the plastic coating that insulates a wire, is called myelin.

“It would have been nice to feel the immediate gratification of a positive HNPP test result. It would have answered nearly every question I had about what was happening to my body.”

From the Girl With A Purple Cane blog

In HNPP, one copy of the PMP22 gene is lost (deleted) so that people have only one copy of this gene. A person with HNPP will have inherited a faulty copy of the PMP22 gene from one of their parents.

With only one normal PMP22 gene, their myelin is fragile and more susceptible to injury. Just the slightest pressure, stretch or repetitive movement on the nerve causes sections of the myelin to be lost. Signals cannot be relayed to and from the muscles properly.

A genetic test usually confirms whether one of the copies is deleted. Around 80 per cent  of cases of HNPP is down to deletions of this particular gene. However, in some cases even with a genetic test, it can come back negative.

According to DNA diagnostic experts GeneDx, genetic diagnosis is identified in approximately 50-70 per cent of individuals with the hereditary neuropathic condition Charcot-Marie-Tooth disease, which shows that even if the symptoms present themselves, they may not be explicitly diagnosed for all.

This was seen in a 2006 study where a 32-year-old woman diagnosed with CMT, where the PMP22 genes are duplicated, came back with a false negative even though she had two different types of gene mutations.

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Algorithm for Peripheral Neuropathy testing – GeneDx

What happens if the results are positive?

A positive result indicates that a disease-causing mutation was identified in the individual who was tested. In this case, you can get predictive genetic testing in terms of planning ahead as well as testing for your family. They can then go ahead for further evaluation. There can be variability in symptoms, age of onset, and disease severity even among members of the same family who have the same genetic mutation.

What if the results are negative?

Even with a negative test result, it does not rule out that a person with neuropathy does not have a genetic condition. As the diagnostic company suggests possible reasons for a negative result could be:

  • The patient has a mutation in a gene not included in the testing panel
  • The patient may have a mutation in a part of a neuropathy gene that was not covered by the test
  • The patient does not have hereditary type of neuropathy

As Sharon Plon, Medical Geneticist and Director of MD-PhD program at Baylor College of Medicine, says:

Unknown results

In some cases, results may not conclusive either way. These results are referred to as variant of unknown clinical significance (VUS). This indicates that the role of the genetic change in causing neuropathies has not clearly been established. In some cases, testing of other family members may help clarify the clinical significance of a VUS.  The greater the number of affected family members who carry the VUS, the greater the likelihood that the identified variant is hereditary.

In other instances, if the person is the only one identified with a single mutation, they may be a heterozygous carrier i.e. they inherit a pair of genes where one is dominant and one is recessive.

Advantages of getting a panel test if negative

  • Higher diagnostic rate
    • all ‘common’ genes in one test
    • the rare genes included/ genes that no diagnostic service is available
    • more patients and families to get a genetic diagnosis
  • Faster turn around time
    • all genes in one test, not sequential testing
  • Familial cases can avoid further clinical investigations
  • Enhance our knowledge and understanding for IPN genes (Enrich for fragments of interest)
    • routine testing of rare genes
    • interaction between genes/ modifying mutations
  • Cost savings
    • directly: panel testing is cost effective
    • indirectly: faster result / high diagnostic rate can lead to reduced
    • appointments and other investigations for patient and family

However, the cost of a genetic test depends on the complexity of the test and can range from under £100 to £1000s, for example a basic chromosome test (karyotype) would cost about £150 and screening a panel of 108 genes associated with congenital cateracts costs £1100. The cost increases if more than one test is necessary or if multiple family members need to be tested. So it can be a hefty investment depending on where you’re getting it done.

The problems with certain gene tests

Either way, as some research states, the CMT1A duplication was identified more frequently than the HNPP deletion, suggesting some types of gene variants are more difficult to detect to than others such as those for HNPP.

The study, Charcot-Marie-Tooth Disease And Related Hereditary Polyneuropathies featured in the Genetics in Medicine journal, says: “HNPP can mimic multifocal neuropathy, a frequently inflammatory disorder that requires immunosuppressant therapy.

“Molecular testing occasionally identifies new sequence variations of unknown pathogenic significance. In these cases further studies (segregation analysis, functional assay) are required to establish pathogenicity, which are performed in research laboratories.”

Hence there is still quite a lot of testing to be done to perfect the current sequencing method. So hopefully it won’t come as a shock if your results turn out to be negative, but be prepared for that eventuality.

HNPP · Mental Health

Why do HNPP sufferers say ‘I’m fine’?

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It seems to be a common occurrence with those with chronic illnesses to never admit to feeling less than fine. When someone asks, “How are you?” the most common, socially-accepted response is “I’m fine!” For many people, it’s an answer they give without a second thought. It’s such a frequent occurrence that there’s even a T-shirt for it.

Many people have this notion that if you look fine, you are feeling good or having a good health day. Many also don’t realise that even when we say we are fine, we really are not.

Why do we say it if we don’t feel it?

There is a range of reasons why a person with HNPP may not admit to feeling less than well on a given day. From embarrassment and the shame of ‘complaining’, to not having the energy in giving a long explanation. And some days you really are ‘just fine’.

Stigma of illness

In some cases, people with chronic ‘invisible’ illnesses find it difficult to admit that they are no longer 100%. The stigma of feeling ‘abnormal’ can be a driving force in concealing how they really are. Phillip Vannini, author of Body/Embodiment: Symbolic Interaction and the Sociology of the Body explains that when the body fails to function in expected ways, it changes into a “dysappearing” entity, which means a body appears to be ‘dysfunctional’ to ourselves and others.

He writes: “Just as we become excruciatingly aware of our failures when we slip up, sinking into embarrassment and perhaps even shame, so do we experience these discomforts if and when illness and disability move us from a tacit relationship with our bodies to a more conscious and reflective one.

“When we realize that we can no longer count on our bodies to look, behave, or move as they once did, we change the image that we imagine others have of us.”

shame embarrassment HNPP hereditary neuropathy

Norma C. Ware, Associate Professor of Medicine at Harvard, reiterates the notion that those with chronic illnesses try to lead seemingly normal social lives or simply to continue to perform the routine functions of daily living as a result of feeling ‘dysfunctional’. In Suffering and the Social Construction of Illness, published by the Medical Anthropology Quarterly, she argues:  “In casual conversations, [chronic illness sufferers in this case fatigue] deliberately omit any reference to their condition. If asked how they are, they invariably reply brightly, “Fine!”

“For these individuals, dissembling, as difficult and demanding as it is, seems preferable to the risk of being disconfirmed in their experience of their illness.”

She goes on to add that the lack of shared knowledge of the illness and of meaningful terms in which to describe it made it difficult to argue convincingly when speaking about it to others.

The Academy of Pain Medicine reports that more than three-quarters of patients with chronic pain suffer from depression at some point, and a 2011 study linked self-concealment — the tendency to hide negative or distressing personal information from others — with high levels of chronic pain. “Individuals with chronic pain might conceal aspects of their condition for various reasons. For instance, they might perceive pain as a source of stigma or as a burden for close others,” the study authors wrote.

For those who feel like a burden to the people around them, saying “I’m fine” becomes second-nature. Even though we didn’t do anything to cause our condition, we feel like it’s our fault and that we are making the lives of those around us more miserable.

However, it may not be the only reason why we say “I’m fine”.

Taboo of speaking out

According to a study conducted by healthcare provider Benenden Health in conjunction with the charity Beating Bowel Cancer, putting on a brave face and refusing to offload problems on to family and friends were the trends that emerged when the charity examined the everyday problems and worries of 2,000 people.

“Putting on a ‘brave face’ can often be our default mode when we are faced with issues which worry us out of a fear of appearing weak.”

Paul Keenan, Head of Communications from Benenden Health

The figures showed 85 per cent of British people thought acting fine when really they’re not was a common trait. It also showed the average person is found to put on a brave face and bury serious worries around health, financial concerns or general mounting stress – uttering the throwaway phrase ‘I’m fine’ eight times a month when in reality they aren’t.

Results showed six in ten admit to ‘putting on a brave face’ in times of serious worry, while a quarter thought it embarrassing to show any signs of weakness with fears of being judged or labelled being common.

Paul Keenan, Head of Communications from Benenden Health said: “Putting on a ‘brave face’ can often be our default mode when we are faced with issues which worry us out of a fear of appearing weak. But when this impacts our health and wellbeing we really need to address our reluctance as a nation to open up about these concerns and seek appropriate help.

‘’Speaking out an early stage when something is concerning us, particularly if that’s a medical issue, can greatly increase our peace of mind and reduce the risks of the problem worsening. We shouldn’t be afraid to talk about issues that worry us and ask for support to help us through the difficult times.”

More than half of those who participated in the study admitted to regularly masking pain from others and two thirds have kept a troubling health worry from a partner while more than two thirds of people agreed that there is a common tendency to make assumptions about people who are troubled by certain illnesses or ailments.

Whether it is down to keeping a ‘stiff upper lip’ or to not wanting to explain an issue, it depends on the individual.

Staying positive

There is a fine line between staying positive and being in denial. However, there are some instances where saying “I’m fine” is down to forcing yourself into a positive mental attitude. In another publication looking at older people’s attitudes into chronic illnesses, the study’s authors say that in amongst 132 people, a few had made adaptations to deal with their illnesses.

The authors state: “We learned that many older adults with chronic illness make the necessary adjustments (through positive attitude, religion, philosophy about life, willingness to modify their routines, etc.) that permit them to continue to live satisfying daily lives in ways similar to their former selves.”

Most sufferers do not want people to walk on eggshells around them, so the default is to live a somewhat ‘normal’ life without pity. It can also mean because the reality hasn’t changed since the last time you’d seen them, so let’s focus on the positives.

Guilt

Many of us with chronic illnesses entrap ourselves by worrying about making other people feel guilty. They often don’t know much about our health because we withhold information. It’s tiresome to keep saying, “I feel terrible today” or “I’ve got such and such going on”. Some of us would much rather just say, “I’m fine,” and move on instead of having to use the energy to explain.

“This then makes me feel guilty about moaning about it and so I get stuck in a rut, and I’m guessing because people fairly hear me moan, they don’t know the daily struggles of what we have to go through.”

User on Multiple-Sclerosis forum

A multiple sclerosis sufferer wrote on a forum: “Sometimes I do think to myself that [friends] would understand if I were in a wheelchair, which sounds horrific and I really don’t mean it to sound bad but people can’t physically see what is wrong with me and so I guess they struggle with understanding which is fine of course but not one person has turned around to me and asked about it at all, which I would always make a point of doing if it were my friend.

“This then makes me feel guilty about moaning about it and so I get stuck in a rut, and I’m guessing because people fairly hear me moan, they don’t know the daily struggles of what we have to go through.”

This unfortunately, is a fundamental issue with a hidden illness – it makes it difficult to admit that there is something wrong. And as I mentioned in a previous post about the impact of chronic pain on relationships, the problem is our connections with others whether they are friends, family, colleagues or acquaintances, make the difference between coping or finding ourselves feeling entirely misunderstood, isolated in our pain, by some, even judged for it.

So what do you really mean when you say “I’m fine”?

  • I don’t feel fine, but because my illness is invisible, I don’t think you’ll believe me
  • I’m struggling but I’ll deal with it in my own way
  • I haven’t been fine for a long time, I just get tired of saying what is really going on
  • It’s not a socially accepted place for me to express how truly terrible I feel
  • Fine is the only answer you’ll accept right now in this polite conversation
  • I’m coping, but I’m holding on by my fingernails
  • I am trying to stay positive – I don’t want folks walking on eggshells around me
  • I am trying not to upset or worry you
  • I am in denial and trying to convince myself I am okay
  • I am too tired to respond
  • ‘I’m fine’ means today my medications are doing a pretty good job at managing my pain
  • When I say ‘I’m fine,’ I really mean I’m in pain
  • I’m not fine but I don’t want to be a burden on you
  • I’m fine because there is too much going on and to sort out to even explain to you
  • Go away, I don’t want to talk to people right now
  • Today is a ‘day better than yesterday.’

There is a lot more where that came from and the truth is you have the choice to say anything that you feel comfortable with, with the people that you trust the most. If someone truly wants to know how you are feeling, they just need to ask: “How are you really doing?”

HNPP · Physical Health

Can diets help with HNPP symptoms?

apple hnpp hereditary neuropathy diet

Having a neuromuscular condition like HNPP can pose some unique challenges to weight loss, especially when designing an exercise and diet routine. If you have HNPP, moderate exercise is usually best, especially when combined with a healthy diet. One of the challenges facing HNPP sufferers is the fact that muscles can take longer to recover from exercise with the condition.

Because a person with HNPP can’t exercise as hard as someone without it, it is important to watch your diet. The foods that you eat need to do more than just fill you up. Everything you put into your body needs to do double duty, whether it is increasing metabolism, lowering cholesterol, or helping your muscles recover faster after a workout.

Disclaimer: Please check with your doctor or practitioner before starting a new diet. 

Stephanie Sacks, a nutritionist and culinary chef, worked with Hereditary Neuropathy Foundation founder Allison Moore, who suffers from the sister condition of HNPP called Charcot Marie-Tooth syndrome, in order to improve her health. In July 2016, Sacks began to change her diet and determine if food could be “thy medicine” for those living with CMT.

Moore followed a specific menu that was created for her by Sacks – a “nutrition prescription” that was the result of collaboration with an “integrative functional” dietitian colleague. It included a meal plan with supportive supplementation, and after two months Moore claimed there had been an improvement. Her blood work also reportedly improved, from cholesterol to triglycerides and liver function.

You can view the interview here.

According to Sacks’ website, the first phase of the diet looked like the following:

  • 80-90% whole foods diet (organic as often as possible)
  • Neuro-protective foods including healthy fats like avocado, coconut oil, extra virgin olive oil, almonds
  • DNA-protective foods such as broccoli, cabbage, kale, radicchio, berries, matcha tea (potentially slows or reverses damage of DNA)
  • Naturally nitrate-rich foods like beets and chard to enhance blood flow and improve vessel elasticity
  • No gluten (it can be pro-inflammatory for many)
  • Limited dairy (same as above)
  • Limited starchy carbohydrates like grains and beans
  • Nothing artificial, from preservatives to sugar to flavors to dyes
  • Limited refined sugar
  • Little to no alcohol

The crux of the diet is clean eating, which is something most people without the condition can even embrace.

What kind of diet?

A nutritious diet that is right for you will largely depend on your age, size, gender, lifestyle, eating and food preferences and your overall health.

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As CMT UK recommends, the person to see is a registered dietitian – they may not know about the condition, but they can approach the right people to create an appropriate plan. Here is what a healthy diet looks like, according to the organisation:

  • Eating at least five portions of fruit and vegetables every day
  • Eating only a moderate amount of “simple” carbohydrates like sugar, processed flour, potatoes, pasta etc. Replace these with “complex” carbs in fruit, unprocessed grains (brown rice and pasta etc).
  • Eating plenty of proteins – meat, fish and pulses – remembering to remove the skin from chicken and excess fat from meat and avoid frying
  • Having three portions of dairy foods every day. (A portion is about 1/3 pint of milk or a small pot of yogurt, or 25g of cheese.) Where possible choose reduced fat versions, like semi-skimmed milk and cottage cheese for example
  • Keep fatty and sugary foods to a minimum
  • Eat as little salt as possible. The recommended daily amount is 5 to 6 grams (about one teaspoon)
  • Avoid ready-made foods, as they can contain very high levels of sugar, fat and salt.

Digestion

In some cases of HNPP, dietary issues can include problems with digestion. Those with autonomic nerve damage – which are the nerves that are connected to the internal organs – can face loss of control and functions of the body.

“I truly believe foods play a major role in both inherited and non-inherited neuropathy. I have a been gluten free for about 5 years due to a blood test result showing I had a gluten sensitivity. I believe it has slowed my rate of neuropathy progression.”

Asked on the CMT Inspire Forum

Gareth Parry, M. D, Professor and Head, Department of Neurology, University of Minnesota, spoke to Maureen Horton, creator of the original HNPP.org website. Asked if HNPP can cause a “digestive slow-down”, Dr Parry said that while HNPP doesn’t have a direct effect on the digestive system, relative inactivity imposed by the condition and sometimes the effects of medication can exacerbate the problem.

He adds: “Maintain as much physical activity as the HNPP will allow. High fluid/high fiber diet. Occasional use of laxatives is OK but avoid them as much as possible.”

Obviously, it’s important to ask a nutritional specialist to get the best results. Nonetheless, combined with physical activity, your diet can help you to reach and maintain a healthy weight, reduce your risk of further issues, and promote your overall health.

HNPP · Physical Health

Is surgery worth it with HNPP?

HNPP hereditary neuropathy surgery carpal tunnel

Carpal tunnel syndrome seems to be a common occurrence with many HNPP sufferers, and the symptoms sometimes overlap when it comes to nerve damage around the wrists. Not to mention, foot issues such as high arches and unstable ankles appear for some with this particular condition. And the obvious question for those newly-diagnosed tends to be can surgery help stop or relieve the symptoms?

Most people with HNPP have attacks of numbness, tingling and muscle weakness in the leg or foot, which can make walking, climbing stairs and driving difficult or impossible, and can result in foot drop – the inability to lift the front part of the foot because of muscle weakness.

While others can simultaneously have weakness in the elbow, wrist or hands, which can result in wrist drop and loss of sensation in the index finger and thumb (symptoms similar to those of carpal tunnel syndrome), making fine movements such as fastening buttons, typing and gripping impossible.

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

What is carpal tunnel syndrome?

Carpal tunnel syndrome or CTS is a common condition that causes a tingling sensation, numbness and sometimes pain in the hand and fingers. These sensations usually develop gradually and start off being worse during the night. They tend to affect the thumb, index finger and middle finger.

The symptoms of CTS also tend to develop gradually, and usually start off being worse at night or early in the morning.

Any repetitive actions of the hand or wrist can aggravate the symptoms, as can keeping your arm or hand in the same position for a prolonged period of time.

Symptoms include:

  • A dull ache and discomfort in the hand, forearm or upper arm
  • A burning, prickling sensation (paraesthesia) in the hand similar to pins and needles
  • Dry skin, swelling or changes in the skin colour of the hand becoming less sensitive to touch (hypoaesthesia)
  • Weakness and wasting away (atrophy) of the muscles at the base of the thumb
  • Pain may spread from your hand up to your forearm and elbow.

CTS ends up becoming a symptom of HNPP, as muscle strain isn’t the cause, rather nerve issues present itself in the form of carpal tunnel syndrome.

Will CTS surgery help?

The problem with getting surgery for CTS is that it may relieve symptoms in the short term, but evidence suggests that it is likely to return after a period of time. A study for The Musculoskeletal Journal of Hospital for Special Surgery presented a 38-year-old HNPP sufferer with complaints of numbness in the first three digits of both hands and weakness of both hands after doing yoga. She was seen by a hand surgeon after wrist splints and anti-inflammatories had no benefit.

“The doctor told me I would have instant relief, which I did. My recovery time about 3 weeks. Disadvantages: I lost 30% strength in my right hand.”

Case from Inspire Forum for Charcot-Marie Tooth

Ten weeks after the diagnosis, she underwent carpal tunnel and Guyon’s canal (surgery to decompress the ulnar nerve) releases, which yielded significant improvement in symptoms within a week. However, after several years, the symptoms returned and instead her hand was left permanently weakened by the surgery.

The authors of the report conclude: “Typically, carpal tunnel release is of little benefit, and ulnar nerve transposition at the elbow may worsen symptoms.

“However, in cases with severe symptoms, debility, and/or deformity, surgical intervention should be considered on an individual basis and in this patient appears to have been beneficial.”

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This shows that surgery should be undertaken on a case by case basis. So you really need to weigh up your options, as it may relieve pain now, but create issues at a later stage.

Another case study featured in the report Is Carpal Tunnel Warranted for HNPP? also warned about having multiple surgeries. Authors Nicholas Earle and Douglas W. Zochodne conducted extensive research on the role of carpal tunnel decompression surgery for those with HNPP.

“[We] do not recommend multiple decompression procedures in an attempt to modify the natural history of HNPP.”

Is carpal tunnel decompression warranted for HNPP?
Nicholas Earle and Douglas W. Zochodne 2013

Two patients with HNPP underwent nerve decompression and surgery for CTS. Despite seeing some improvements, there were issues during surgery for one of the patients in terms of symptoms of HNPP posing itself.

The authors state that even though carpal tunnel decompression could be offered to patients who have “appropriate, persistent, and significant symptoms”, they add: “we do not recommend multiple decompression procedures in an attempt to modify the natural history of HNPP”.

Surgery for anyone increases the risk of nerve damage, from lying still. Individuals with HNPP are at a much greater risk. Nevertheless, knowing about the susceptibility to pressure palsies can help the surgical team avoid causing them by positioning you to avoid pressure palsies.

Correcting foot deformities

I do feel uncomfortable with the word ‘deformity’ but I’ll use this to describe the next lot of symptoms.

It is more common for those with hereditary neuropathies such as Charcot Marie-Tooth disorder, to undergo operations to correct the positioning of a foot. Clawed toes can be straightened, high arched feet can be flattened, and unstable ankles can be tightened.

Blausen_0411_FootAnatomy

For some people with HNPP, the toes begin to claw, causing pain on the ball of the foot, which develops as the deformity places downward pressure on the heads of the metatarsal bone and the protective fat pad beneath them is pulled away by the upturning toes.

Walking becomes painful and wearing shoes becomes difficult, hence many wear cushioned orthotics and special insoles to help alleviate symptoms. Over time, the deformity becomes fixed and conservative treatment no longer helps.

Foot drop, however, is more frequent as Glenn Pfeffer, MD, is the Director of the Foot and Ankle Center at Cedars-Sinai Medical Center reports. In an interview to the Hereditary Neuropathy Foundation, Dr Pfeffer says the muscles that lift up the foot and ankle weakens due to motor nerve issues, eventually causing the foot to drop. While it isn’t a long term solution, the doctor says surgery for patients with CMT and foot drop has “made great advances in the past decade”. But he only recommends surgery after conservative measures such as stretches, physiotherapy, as well as orthotics no longer work.

On a CMT UK forum on Health Unlocked, one person had undergone surgery for foot drop, consisting of four operations and then two subsequent procedures. The online user said: “Weigh up how much of handicap it is now, how much does it hurt and ask your surgeon about the long term future of your foot.”

While others have had more positive outcomes, with another netizen, who had high arches corrected, saying: “Was so incredible. It was life changing for me.”

Either way, whatever you choose to do, it’s important to also remember to provide your medical practitioner, surgeons, nurses and anyone involved with details of your condition, as you may need to have special positioning during surgery.

During surgery

In the Journal of Association of Anaesthetists of Great Britain and Ireland, a case of a woman with HNPP, who underwent a biopsy under general anaesthesia, was left with weakness and decreased sensation of her left arm due to incorrect positioning.

The study added that approximately 16 per cent of all anaesthesia-related claims in the United States was down to peripheral nerve injuries. The ulnar nerve is damaged most commonly (0.33 per cent of general anaesthetics); this is three times as common as injury to other nerves. Hence it is essential that you let your medical team know about your condition well in advance.

In the end, it is your choice if you want to go ahead with surgery, but the more knowledge you have beforehand on what to expect, the better the decision you will make and the outcome will be.

HNPP · Mental Health · Physical Health

Dealing with genetic testing with HNPP

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Getting genetically tested can be traumatic depending on the outcome, but for many it is a necessity. The uncertainty of not knowing for either yourself or your family can be a harrowing experience, but what comes next may appear to be more difficult. However, a diagnosis for HNPP can help explain how conditions are inherited, in order to help draw up medical management plans and discuss further family planning options.

“There are no right answers, there are simply decisions.”

Asked on the Inspire Forum for Inherited Neuropathy

The psychological effect of a genetic disorder can vary by the nature of the condition and the relationship of a person to the affected individual. Every family is different and it is difficult to predict how people will react to a genetic diagnosis. It’s helpful to think in advance about some of the possible reactions, though, so you can react quickly and minimise distress.

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

The following information has been taken from Understanding Genetics: A New England Guide for Patients and Health Professionals:

Patients

A genetic diagnosis can be a great relief to the person suffering from the condition.  It helps HNPP sufferers understand their disorder, especially when the condition is rare and the patient has struggled to find a diagnosis. Patients often spend years living with a condition without knowing its name or cause. Diagnoses usually lead to improved treatment options and access to support services. They can also help other family members make decisions about their own lives.

However, a genetic diagnosis may lead to negative reactions, too. The science of genetics can be confusing, and sufferers are often frustrated until they understand the nature of their condition. Anyone identified with a mutation may consider themselves at fault or interpret their diagnoses as leading to something they cannot fight. A genetic diagnosis can lead to fears about insurance and employment discrimination.

The reaction to a diagnosis varies from individual to individual.

Parents

Understandably, the diagnosis of a genetic condition may put stress on a relationship. Couples with an affected child often face difficult family planning decisions because future children may be at higher risk. Depending on the condition, parents may also be faced with hard choices regarding prenatal testing. It can also put a strain on relationships some times causing a communication breakdown. The magnitude of these decisions and their outcomes has an impact on the individuals involved and on their relationship.

Family 

Unaffected family members should not be forgotten in the case of a genetic disorder. When one family member is diagnosed with a mutation, family members who do not have the mutation often feel guilt that loved ones are affected when they are not.

“When my daughter was in junior high, she told me that if it’s hereditary, it was my responsibility to figure it out. I’ve had various inconclusive genetic tests but am hopeful this next one will pinpoint it. The info won’t affect me in any way, but maybe generations from now, it could be life-changing.”

Asked on the Inspire Forum for Inherited Neuropathy

Siblings of children with special needs sometimes feel neglected because parents need to focus more time and effort on their siblings. Including unaffected family members in the planning of care for individuals with genetic conditions can help them come to grips with their own emotional issues.

Adults who are diagnosed with a genetic condition and are considering having a child will need to consider the risk of having an affected child as well as their ability to care for the child.

Myelinated_neuron

Genetic test results are often complex and may be difficult for patients and their families to understand. In some cases, a genetic test may reveal the risk status of other family members who may not wish to know this information, potentially encroaching upon their autonomy or privacy.

In general, support or advocacy groups and community resources can provide ongoing support to patients and their families with genetic conditions. Support groups provide a forum for sharing experiences about caring for a family member affected with a genetic condition, coping with a new diagnosis, obtaining healthcare or other services, and healing. Members of support groups know first-hand what it means to be faced with a diagnosis and to need accurate, up-to-date information. Staying connected with their community helps individuals fight the feelings of isolation that often surround families living with a genetic condition.

That being said, knowing what to expect during the testing process can help to prepare for what’s to come.

How to prepare for a genetic appointment

There are several things it is helpful to consider and find out before your genetic appointment, these include:

  • Take questions with you – Thinking through your concerns and queries in advance and writing them down to take with you
  • Check where the appointment will be – Genetic centres can be based in clinics across different hospitals so double-check with your hospital
  • Give details of other family member’s genetic diagnosis – If another member of your family has previously been seen in the genetic clinic, please let the clinic know their name and date of birth before your appointment. This will help them link the family information and will save time at your appointment.
  • Gather as much information about your family history – You are likely to be asked for this in your appointment. Clinics usually only ask about your family history as far back as grandparents.
  • If you want someone else tested who isn’t present – If your concern is about a genetic diagnosis affecting another member of the family, the clinic will need to get confirmation of the diagnosis. You may be asked to pass a consent form to your relative before your appointment.
  • Ask for help if you need additional assistance – It is very helpful to let the clinic know in advance.

What does an appointment involve and what happens after?

  • You will be seen by a clinical geneticist or a genetic counsellor, or both, depending on the reason you have been referred.
  •  Your medical and family history will be taken.
  • If needed, you/your child will be examined by the doctor.
  • Where a diagnosis is known, you will be provided with information about the condition including an explanation of how it is inherited and what this may mean for you and other members of your family.
  • Options around genetic testing and family planning will be discussed if appropriate.
  • Support will be offered around decisions that need to be made
  • If genetic testing is available and you wish to go ahead with this, then you may have a blood sample taken.
  • Following your appointment it is likely you will be sent a letter summarising the information discussed.
  • You may only need to attend the clinic once or several appointments may be needed. You will be told at your appointment whether you need to be seen again.
  • If you had a blood sample taken for genetic testing, you should be told when to expect the results and agree a plan for how you will receive these.
  • Some types of results are always given in person in the clinic or by letter.

What next?

  • Genetic counselling – this involves a healthcare professional talking to you about a genetic condition or possible genetic condition affecting you, your child or another member of your family. Another important aspect of genetic counselling is that it provides support with the emotional and family implications of a genetic disorder.
  • Be wary of information you find on the internet – The internet is a powerful tool for diagnosis and support but there is a lot of misinformation out there and some of the things you read might be frightening. Remember, genetic conditions can manifest themselves differently in different people – every one of us is unique.
  • Connect with other people – This is a great way to share advice and support one another.
  • Know your rights – Apart from coping with the emotional and medical issues related to a positive genetic test result, patients are often faced with life-changing decisions, especially when it comes to family planning and thinking about genetic testing for your children. But it’s also important to check where your genetic information is going and how it is being used so ask about it during your appointment.

To find out more information about genetic testing and counselling, here are some organisations that deal with this specifically:

HNPP · Physical Health

Can new technology help HNPP sufferers?

A discussion about how technology needs to advance to fulfil the needs of HNPP sufferers led to me searching about smart new neurotechnology devices available out there. There are some already on the market linking up with apps, morphing into wearables and becoming fully customisable. But do they work?

Quell Wearable Pain Relief

quell pain relief neuropathy HNPP

The first device I came across was Quell Wearable Pain Relief from NeuroMetrix. The US based company claims to be the only FDA approved device that can be worn while sleeping, and says that it can reduce pain at the flick of a switch. It sounds like a dream to those who suffer from chronic pain, who usually end up sounding like a maraca with the amount of drugs having to be taken on a daily basis.

The way it works is that you  strap it to your calf muscle and when the device is activated, and it is said to stimulate nerves in the leg that send signals through to your brain which induce your body to release its own pain blocking chemicals, known as endogenous opioids, which should reduce or eliminate chronic or even temporary pain.

That is a big statement to declare, especially as the creator claims that the device is “FDA cleared, doctor recommended and 100% drug free.” Neuromix also say that 81 per cent of users said they reported an improvement in their chronic pain.

Much like other wearables, the Quell can connect up to a companion smartphone application in order to give the wearer a way to customise their experience and it can potentially even work while they’re asleep, based on customisable preferences.

The difference between a TENS unit and Quell’s device is said to be the fact that it is a wearable intensive nerve stimulation (WINS) unit, which is five times more powerful.

While it is relatively new, meaning there are still not that many consumers reviewing it, it seems that it has begun helping some tweeters:

Pros

  • It can be worn 24/7, even while sleeping
  • It can help relieve some symptoms of pain
  • There’s a customer care number for one-to-one help
  • Easy to set up
  • 60 day money-back guarantee
  • Can be paid in instalments.

Cons

  • You will need a smartphone or tablet, which gives access to an optional app that allows for further individualisation and tracking
  • According to Fed Up With Fatigue, it can take several weeks for chronic pain sufferers to see a difference
  • It won’t relieve all pain, but it should help relieve some of it
  • It is likely to help people differently according to the severity of the symptoms
  • It isn’t cheap at $249 for a starter kit.
  • Quell’s electrodes have to be changed every two weeks
  • Some people may experience a stinging sensation which may need recalibration, as well as headaches
  • Quell’s impact on pain relief seemed to be very treatment-dependent.
TENS Units

Transcutaneous electrical nerve stimulation (TENS) is a non-pharmacological treatment for pain relief. TENS has been used to treat a variety of painful conditions. Clinical trials suggest that adequate dosing, particularly intensity, is critical to obtaining pain relief with TENS. Hence it seems clinical trials continue to support the use of TENS for the treatment of a variety of painful conditions while identifying strategies to increase TENS effectiveness.

Tens

TENS is the application of electrical current through electrodes placed on the skin for pain control. On the normal setting (90-130 Hz), the electrical impulses generated by the unit are believed to block the pain messages being sent to the brain. This belief is based on the “gate theory.”

This theory suggests that the central nervous system has a gate mechanism built into it. When the gate is open, pain signals are able to pass through to the brain and we feel pain as a result. If the gate is closed, the pain messages are effectively blocked and we do not feel any pain.

And while it has shown a difference in terms of pain relief, the effectiveness of TENS on individual pain conditions, such as low back pain, is still controversial. There are lots of over-the-counter units, with many muscle massagers claiming to be one, but the following have been approved by some HNPP’ers.

TENS 7000

When it comes to value for money, TENS 7000 is priced in the lower end of TENS units.

The ever-popular pocket-size device has been around for years, and is most certainly here to stay. The downside is that it isn’t rechargeable.

AccuRelief

The AccuRelief Wireless TENS Electrotherapy Pain Relief has no electrode wires and requires only pushing buttons. It offers 20 levels of intensity adjustment, which may not be enough for some, but it is lightweight.

Cons

  • 30 minute shut off – you’ll need to re-start again if you’d like to continue treatment
  • You’ll have to change the batteries every 2-3 weeks, depending on usage

Most people use TENS machines without experiencing any side effects. The most common side effect is not related to the machine itself, but the self-adhesive pads.

If the pulse is too high or you use the TENS machine too often, the stimulation can cause pain or muscle twitching.

Footbeat

More than $7 million was raised to produce this new kind of footwear. Footbeat is reported to change the method of circulatory enhancement in the lower extremities. The company’s co-founder, Dr. David Mayer, a practising orthopaedic surgeon, says “Footbeat applies precise, cyclic pressure on the bottom of the foot to increase the body’s circulation, improving health and athletic performance.”

The way this rechargeable shoe is supposed to work is that a smart engine in the centre of the insole applies precise, cyclic pressure to the arch of the foot, increasing circulation.

This pump helps apparently plays a role in the venous system, is a transportation network that supplies oxygen and nutrients to your body while also removing metabolic waste.

With Footbeat applying pressure at regular intervals into the arch of the foot, it is reported to create physical benefits. These benefits mimic the benefits people get naturally from increased circulation due to physical activity including increased removal of metabolic waste and increased delivery of important nutrients that help accelerate healing and recovery. The micro-mechanical device can be activated using mobile technology in the form of a remote control. 

It’s still being rolled out so watch this space.

Pros

  • 30 day full replacement guarantee
  • The remote uses Bluetooth low energy (LE) technology that provides a range of six feet while using less power for longer battery life
  • Supposed to massage the feet
  • It claims to speeds active recovery after athletic exertion, helping to prevent soreness and injury.

Cons

  • At $450 for the starter kit, it seems ridiculously expensive
  • Cannot drive with these shoes
  • It isn’t waterproof
  • Takes an hour to charge
  • Keeps charge for only four hours
  • Can’t be worn while walking in water, mud, rain, snow or any outside moisture.

There are plenty more technologies in the developmental stage being produced, which seems exciting for many who struggle daily. But real testing needs to be done on those who have actual symptoms to understand the benefit.

Have you tried any new gadgets?

HNPP · Medication

Side effects of medication for HNPP

medication HNPP hereditary neuropathy

After discovering that suffering from a fever and chronic fatigue for the past two weeks was down to my medication left me feeling alarmed. So is it a case of the drugs don’t work – they just make you worse?

It is common for people with peripheral neuropathy to experience different degrees of pain. Hence it’s important to identify the type of pain medication that will work best for managing painful peripheral neuropathy symptoms, that also works with your body chemistry, and compliments other treatments.

Disclaimer: Please check with your doctor or practitioner before taking new medicines. Make sure you’re not allergic.

Differences between pain

Acute pain usually comes on suddenly and is caused by something specific. It is sharp in quality. Acute pain usually does not last longer than six months. It goes away when there is no longer an underlying cause for the pain.

Chronic pain is pain that is ongoing and usually lasts longer than six months. This type of pain can continue even after the injury or illness that caused it has healed or gone away. Pain signals remain active in the nervous system for weeks, months, or years. Some people suffer chronic pain even when there is no past injury or apparent body damage.

The following are the main types of medication that HNPP sufferers tend to use.

Amitriptyline

Amitriptyline is used for headaches and depression, as well as neuropathic pain. It reportedly provides pain relief in about 1 in 4 (25%) more people than does a placebo, and about 1 in 4 (25%) more people than placebo report having at least one adverse event, which may be troublesome, but probably not serious. The most common side effects, experienced by 5-15 per cent of people, include dizziness, drowsiness, dry mouth, nausea, sometimes insomnia and constipation. Apparently it is slow-acting so it can take around six to eight weeks to show any effect.

Duloxetine

Otherwise known as Cymbalta, is commonly used to treat bladder problems, depression as well as neuropathic pain. According to a study for the Cochrane Database of Systematic Reviews, most people taking duloxetine  however will have at least one side effect. These are mostly minor and the most common are feeling sick, being too awake or too sleepy, headache, dry mouth, constipation or dizziness. About one in six people stop duloxetine because of side effects. Serious problems caused by duloxetine are very rare though some HNPP sufferers have reported muscle spasms with this medication.

Pregabalin

Branded under the name Lyrica is among the most commonly used to treat peripheral neuropathy and specifically HNPP.  It can be used to treat epilepsy, headaches or anxiety. It is said to slow nerve impulses that may cause seizures and blocks nerve related pain. While most can take it with it no problems, some of the side effects include dizziness, extreme drowsiness, headache, dry mouth, peripheral oedema (accumulation of fluid causing swelling), weight gain, blurred vision, motor in coordination and ataxia (tremor or lack of muscle control) occurring in 1-10 per cent patients at lower doses.

Gabapentin 

Commonly known by its brand name Neurontin, it falls into a class of drugs known as anti-convulsants – or drugs used to treat epileptic seizures as well as relieve nerve pain. Only 14 per cent of patients taking gabapentin for chronic neuropathic pain report meaningful relief, according to another report by the Cochrane Database of Systematic Reviews. In a recent study by an independent organisation looking at the effectiveness of gabapentin and other drugs for treatment of nerve pain, as few as one in ten patients experienced a reduction in pain.

Two of the most common side effects of gabapentin are fatigue and weight gain. Many report excessive sleepiness and difficulty functioning while taking gabapentin. Significant weight gain has also been reported among some taking the drug – although the risk is generally low.

A study by the University of Miami Department of Neurology found that weight gain is more common among high dose users. In their study of 28 patients taking over 3000 mg/day, 10 patients experienced weight gain of 10 per cent of their baseline weight. That being said, some HNPP’ers have found relief from it, so it’s important not to knock anything until you try it.

When dealing with pain, it is worth giving whatever you can a chance and working with your doctor to try different approaches so that you find the particular approach that is right for you, which brings you the benefits of pain relief, allows you to do more, and gives you the quality of life that you want.