Results from an annual conference that took place late last year have revealed the extent of symptoms suffered by those with HNPP. Sufferers say that pain is the number one issue that plagues them.
On November 3rd, nearly 100 participants gathered at the Samberg Conference Center on the Massachusetts Institute of Technology (MIT) campus in Cambridge, MA, for the Hereditary Neuropathy Foundation (HNF) Patient-Centered Charcot Marie-Tooth (CMT) / Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) Pain Summit. Ninety per cent of the 115 patients that took part in the study linked to the conference, indicated that their pain had a moderate to severe impact on their quality of life.
The meeting brought together people with hereditary neuropathies and their families, caregivers, clinicians, researchers, funding agencies, sponsors, leading pain experts, and the pharma industry to provide an in-depth look at chronic pain within the CMT/HNPP community, including its impact on quality of life.
The one day conference also offered expert sessions as well as breakout session, primarily led by sufferers, with a focus on identifying gaps that are hindering patient care in neuropathic and musculoskeletal pain, diagnosis and outcome measures to support development of therapies.
Consequently, HNF partnered with the voice-powered survey platform True Reply to record patient responses to a five-question survey in their own voice. A total of 621 responses were recorded by the participants over a 30-day period.
The questions asked included:
What type of Charcot Marie-Tooth or inherited neuropathy do you have?
Do you experience disease-related or other types of pain?
Please describe your pain symptoms as descriptively as possible.
Please describe how your pain impacts your daily quality of life.
How do you currently manage your pain?
HNF founder and CEO, Allison Moore, said that the results were “enlightening”.
Moore said: “Hearing about our patients’ experience with pain in their own words was both enlightening and heartbreaking at the same time.
“Our patients are hurting badly in so many ways, and they need guidance and protocols from their healthcare providers to help manage their pain so they can go about their daily lives as pain-free as possible.”
“The voice of the CMT patient can no longer be ignored when it comes to the protocols, treatments and therapeutics that are being developed to treat this disease.”
Allison Moore, Hereditary Neuropathy Foundation CEO
Other key takeaways from the study showed that 76 per cent of patients are managing their pain on their own, with a combination of over-the-counter medications and alternative therapies, while 63 per cent described their pain as numbness, sharp, burning or stabbing.
Jose Cotto, founder and CEO of True Reply, said: “The ability of True Reply to quantitatively analyse patient responses in real-time while also giving researchers and clinicians access to qualitative data such patient voice tone, cadence and stress levels is a real game changer for Patient Reported Outcome (PRO) studies”.
Moore said she hopes that as more sufferers speak out about their experiences, the better therapies may be: “We are looking forward to using technologies like True Reply to help us tell our patients’ stories in their own words so we can address their immediate quality of life issues while waiting for desperately needed therapeutics to move through the pipeline and be approved for commercial use.”
She adds: “The voice of the CMT patient can no longer be ignored when it comes to the protocols, treatments and therapeutics that are being developed to treat this disease”.
There have been some great developments in the world of HNPP, with the most recent being a website dedicated to all research papers related to the condition.
For those who want an easier way to explore scientific publications on HNPP, behold the website HNPP Research, compiled by a fellow sufferer, who happens to be a both a software developer with experience in the medical research field.
Speaking about the website, the creator has said: “It’s not for beginners, but if you are curious to dive deeper into the scientific side I hope this will be a helpful resource.
“There are over 500 studies and I learned a lot about the underlying causes by reading the articles. You can also search on topics of interest like “pain” to see what the latest studies say.”
Results from a study conducted this month by scientists at the Samsung Medical Center in South Korea, in collaboration with LabGenomics, have revealed that hereditary neuropathy with liability to pressure palsies (HNPP), is much more common than usually assumed.
Researchers estimate that one in every 5,943 Koreans have a deletion within the PMP22 gene, which is higher than worldwide estimates which stands at every 16 out of 100,000 person with the condition. It is generally believed across the board that 2-5 of 100,000 have HNPP, however, this latest research shows it is the equivalent to every 59th person out of 100,000, many of whom may present only mild symptoms. So are there more people with HNPP than we initially thought?
The team detected seven samples of those tested with deletions of genetic content affecting the 17p11.2 chromosome – which includes the PMP22 gene – and two cases of PMP22 gene duplication leading to CMT1A. They report that all samples were from unrelated families with six out of seven being female, and three (42.9%) had a family history of HNPP.
The exact prevalence of HNPP remains unclear, however, a prior study from the Republic of Ireland and in southwestern Finland reported a prevalence of 0.84 per 100,000 to 16 per 100,000. The major difference in this study is that patients with symptoms of HNPP were tested under the Irish and Finnish report, whilst South Korean researchers analysed data from newborns.
Previously reported prevalence of hereditary neuropathy with liability to pressure palsies:
Attributed to: Frequency of hereditary neuropathy with liability to pressure palsies (HNPP) due to 17p11.2 deletion in a Korean newborn population, 2018, Jong Eun Park et al.
While the study had limitations and the number of subjects may not be adequate enough to estimate the exact prevalence of the rare genetic disorder, it still provides insight regarding the baseline frequency of the chromosome deletion that commonly causes HNPP.
As the authors say: “[A] significant proportion of parents with PMP22 duplication already have CMT1A-related symptoms and may be more likely to request prenatal genetic diagnosis or preimplantation genetic diagnosis (PGD) rather than neonatal screening.
“Our data suggest that PMP22 deletion [associated with] HNPP might not be uncommon, at least in the Korean population,” they concluded.
You may have spotted the lack of posts for the past few months. This is solely blamed on that age-old issue of brain fog, as well as notoriously rebellious hands. Hence, while I was Google searching “How to get rid of brain fog with HNPP”, lo and behold, I find what appears to be one of the first official donation pages for HNPP! (I have definitely never come across this before, but I may be wrong).
As many with the condition know, money is scarce and not many health professionals are currently researching the condition, with only the exception of a few including the renown Dr. Jun Li, a professor of the Department of Neurology, Brain Institute and Center for Human Genetics Research at Vanderbilt University in Nashville, Tennessee. His research lab pages can be found here.
And HNF are very keen on people to get involved in fundraising:
For those who follow disability forum Team Inspire, you may have spotted Lainie from Trend-Able launching her new website with the tag line “where your disability is not an accessory”. Now this is a bit of a godsend for some women who struggle with buttons and even pulling up socks, but it seems that Lainie will be providing first-hand insight on what to use, and wear especially for those with orthotics and prosthetics.
After my work Christmas party, my legs had lost all feeling thanks to the stupidity of high heels and my own lack of commonsense. So it was only time that someone with the wits and the technological wisdom to create a wonderful site full of tips and tricks. And while it’s still a very new creation, it might be worth subscribing for any future information.
If you’re a fashionista, never fear, Lainie is here.
After several months of falling off the internet radar due to unruly fingers, I realised I may need some outside help. That’s where occupational therapists and vocational rehabilitation comes into play.
It’s easy to become confused over the role of an occupational therapist, given that it seems as if it is related solely to work-based activities. However, they cover a wide range of issues and activities that allow a person to operate relatively independently.
What is occupational therapy?
Occupational therapy is crucial in helping a person cope with the functional, vocational, and social impact of the condition. It helps a person in improving sensory motor skills through regular exercises related to it. It also teaches us to avoid exposure to certain environmental and industrial toxins that can be harmful.
The OTs also teach self care activities and patient safety issues. The therapist also teaches us to pay attention to issues which involve functions like learning how to change positions smoothly to avoid becoming numb and how to prevent falling. They can work with physiotherapists to ensure you get the best care possible.
There is a strong educational element in occupational therapy. Therapists typically teach people how to:
Prevent falls by watching out for uneven terrain and other hazards
Adjust habits, such as sitting correctly without injuring yourself
Find the best solutions to allow you to live independently.
Obviously, there are a lot of crossovers with vocational rehabilitation when it comes to learning to stabilise yourself. From avoiding falling at home and work, as well as correcting your posture, which can be applicable in any situation. Therefore an OT can be in charge of:
Environmental assessments – at school, work, home
OTs are people-centred and their goal is to promote and enable independence. They will assess how well you cope with activities of daily living (ADLs), listen to your needs concerning personal care, leisure, work, study, travel and household management and advise on options for you. Their assessment may involve breaking down the activities you find hard into their component parts.
For example, if you have neuropathy you may struggle with everyday activities like getting dressed, opening food packets or holding a pen to write. Your OT will work with you to find solutions to these problems to help you remain independent. Solutions may come in the form of trying some adaptive equipment to compensate for your difficulty, or by working on activities to help maintain strength in certain muscle groups.
OTs can also make referrals for making splints for hands. People with HNPP may develop problems holding and gripping and experience some muscle wasting in their hands. A hand splint can help to keep your hand in a good position in order to minimise pain and muscle contractures.
At various stages of the condition, an OT may be able to offer expertise in areas such as:
Individualised fatigue management programmes to understand the nature of your particular fatigue within your daily life
How to more effectively prioritise and manage your time to achieve the things you want to do
Strategies to improve sleep and good quality rest
Relaxation as a coping strategy – for example as a stress or pain management technique
Ergonomic information about effective joint protection and energy conservation strategies
Hand-care techniques including provision of hand exercise programmes, fabrication of custom made hand splints to aid daily tasks, pain management and hand positioning
Adaptive equipment from small aids to major adaptations for helping you at home or in your workplace
Signposting and referring on to agencies to help with the cost of purchasing daily living aids and adaptations
Information on employment legislation and your rights within the workplace
Graded return-to-work and remaining-in-work programmes
Care assessments for direct payments or home helps
Mental health-related referrals.
In the UK, OTs work in various settings including community teams, social services and hospitals. The health professionals involved in your care, including doctors, nurses and therapists, can refer you to an occupational therapist if this is required. You may also be able to self-refer to some therapy services – so it is always worth giving your local social services a call. They will explain the correct process for your area.
Some of the adapted changes in my own home include:
A wheelie tray to be able safely carry hot items from one place to another
A food workstation – which has adapted facilities such as a place to hold objects in order to be able to cut safely, a flat grater and slicer
Adapted knives – it has better grip and position to allow you to cut object safely
Special cutlery – a bevelled fork allows you to use one hand to both cut and eat
A bath board – to be able sit safely while in a bathtub
While you may feel helpless in the face of such an uphill battle, occupational therapists go a long way in assisting you to succeed.
Living Made Easy – (NHS and OT recommended) price comparison site for adaptive equipment
AbilityNet – help the lives of disabled people by helping them to use digital technology at work, at home or in education
Naidex – disability information shows like Naidex are excellent for giving you an idea of what is available, but be warned, these shows are huge. Take advantage of their Shopmobility scooters, or you’ll never last the distance
Expo Database – trade conferences around the world that showcase the latest disability equipment.
This is one of the more difficult subjects to tackle. It could partly be because some HNPP sufferers worry about coming forward due to the stigma of mental health, or feel they may be overreacting. But rest assured, it is absolutely natural and completely expected.
According to Scott Berman MD, Psychiatrist and neuropathy patient, there is a strong overlap between neuropathy pain, anxiety, and depression. In his book, Coping with Peripheral Neuropathy, Dr Berman says each of the components can raise the risk for having the other two. As much as 30 to 60 per cent of patients with chronic pain develop feelings of depression and anxiety, while pain and depression can co-occur 30 to 50 per cent of the time, and each can cause the other.
As a result, anxiety can cause several issues that may lead to the development of these neuropathic types of symptoms. Just a small sample includes:
Hyperventilation – common when you have anxiety, and when you hyperventilate your blood vessels constrict which takes away blood flow from some parts of your body. Without blood flow, these areas start to tingle, burn among others.
Nerve firings – anxiety could potentially cause the nerves to fire more, which can also lead to this feeling as though your nerves are always activated and cause “nerve damage-like symptoms” that can be hard to deal with.
Over-awareness – When you’re overly aware of your body, you can have trouble moving them leading to issues with gait (walking style) and how your body feels.
So it’s hardly any surprise that it becomes a vicious cycle, as you may have anxieties over fear of relapse or worsening, disability, isolation, stigma or even fear of further pain.
So how do you find ways of coping?
Everyone has different strategies in dealing with anxiety and stress, however, if you feel particularly stuck, these may be of benefit.
Speak to your medical practitioner or GP, and share your fears – don’t be alone with them
Speak to the groups and networks available. Please find them on the Resources page
Speak to friends and family if reasonably possible, they may not necessarily understand, but a listening ear is always useful
Mindfulness based stress reduction programs combines aspects of meditation and yoga. Many hospitals and complementary/alternative medicine centres use it
Spiritual and faith based help
Exercise, massage and yoga
Breathe better – make sure you slow your breathing down considerably if you’re hyperventilating. Take as long as 5 seconds to breathe in, hold for 2 seconds, and breathe out for 7. Slowing down your breathing is very important for controlling anxiety.
Distract your mind – you need to distract your mind from focusing too heavily on your body, because only by doing that can your body’s movements feel more natural again.
What about depression?
Depression in neuropathy is often confused with the condition. That is, continued problems in function are often attributed to “psychological” or “psychosomatic” issues. Bottom line: all pain is real, and physical symptoms most often have physical causes. The role of the psychiatrist/psychologist/counsellor is to help with the emotional issues that arise from the stress of a medical disease.
Depression and chronic pain share some of the same neurotransmitters – brain chemicals that act as messengers travelling between nerves – as well as some of the same nerve pathways, and depression and pain can interact in a vicious cycle. Depression magnifies pain, changing the brain’s sensitivity to painful stimuli and reducing a person’s coping skills. And the constant stress of experiencing chronic pain can lead to a cascade of other medical problems linked with depression, making it still more difficult to break the cycle.
There are also known side effects from some medication for HNPP that is said to cause severe depression. In the report Depression and Attempted Suicide under Pregabalin Therapy from 2014, the authors say one of the rare side effects include suicidal thoughts. Pregabalin is a compound originally developed for treating epilepsy. Meanwhile, it has shown positive effects on neuropathic pain as well as on general anxiety disorder and is therefore largely prescribed by neurologists, psychiatrists and, of course, general practitioners.
I also deal with depression, neuropathy, and am pre-diabetic. I have those days as well. *hugs*
An FDA warning concerning self-harm in patients taking antiepileptic drugs was released in 2008, yet a relevant risk for pregabalin is postulated to be less than 1 per cent. In the above report, a 20-year-old man was admitted to a psychiatric ward for severe depression and suicidal thoughts, although it was his first episode of a psychiatric disorder.
The authors add: “After the patient retrospectively clearly correlated the start of pregabalin therapy with the onset of his depressive symptoms during exploration on our ward, we immediately discontinued the drug. Consequently, he reported a rapid decline in depressive symptoms, his mood remained stable, and he was discharged.
“Taking into account that certain antiepileptic drugs have been shown to be protective for patients with bipolar disorder concerning suicidality, but hazardous for patients with monopolar depression, for example, there may be critical patient variables also for pregabalin which remain to be elucidated.”
So you may want to talk to your medical practitioner about changing your medications if this seems to be the case.
Some common signs of depression include:
How you might feel
How you might behave
down, upset or tearful
restless, agitated or irritable
guilty, worthless and down on yourself
empty and numb
isolated and unable to relate to other people
finding no pleasure in life or things you usually enjoy
a sense of unreality
no self-confidence or self-esteem
hopeless and despairing
avoiding social events and activities you usually enjoy
self-harming or suicidal behaviour
finding it difficult to speak or think clearly
losing interest in sex
difficulty in remembering or concentrating on things
using more tobacco, alcohol or other drugs than usual
difficulty sleeping, or sleeping too much
feeling tired all the time
no appetite and losing weight, or eating too much and gaining weight
physical aches and pains with no obvious physical cause
moving very slowly, or being restless and agitated
When it comes to neuropathy sleep changes, low energy, poor concentration is common. As the 2014 anxiety and depression study says: “Clinical observations and epidemiological studies show frequent association of chronic pain with psychiatric disorders, including a high prevalence of major depression among pain clinic patients and a high lifetime comorbidity between neuropathic pain and mood disorders.” Hence depression can be a major excess when dealing with chronic neuropathic pain and fatigue.
How to proactively deal with depression
Following are several steps to help proactively prevent or manage both the chronic pain and associated depression that may develop:
Early diagnosis of depression associated with pain – many physicians are not necessarily trained to assess for depression during the course of treating pain. Talking to a physician about symptoms of depression, while still in the acute pain phase of pain, can alert a physician to the need to consider treatment of both conditions. An informed physician can suggest a treatment plan early on that treats the patient’s depression as well as their physical pain, giving the patient the best chance at a positive outcome.
Communicate about depression – depression and an emotional reaction to chronic pain are to be expected; they are understandable. Many patients do not speak to their physicians about their depression because they believe that once the initial pain problem is resolved, the depression, anxiety, and stress they are feeling will go away. However, secondary losses from a chronic pain problem, such as the loss of the ability to do favourite activities, disrupted family relationships, financial stress, or the loss of a job, can continue to contribute to feelings of hopelessness and depression even beyond the resolution of the pain problem. Talking to a physician about feelings of depression will keep the physician better informed and better able to provide appropriate care. Depression can affect the frequency and intensity of pain symptoms, and the healing rate. Getting simultaneous back pain and depression treatment will give the patient a better chance of a full recovery.
Seek multi-disciplinary care for pain and depression – a multi-disciplinary course of treatment that involves involving both a physician and a mental health professional can often provide the best outcomes. With a team approach, both the pain problem and the depression are monitored simultaneously, and both doctors can communicate about how each area affects the other. It’s important for physicians to understand that changes in the physical symptoms of pain can also be related to changes in a patient’s mental state. In addition, it’s important to note that some common treatments for pain (e.g. opioid pain medication, activity restriction, bed rest), can actually make depression worse. This worsening depression can then affect the physical presentation of the pain. If both physical and mental well-being are being monitored closely by medical experts, treatment and medication recommendations, including antidepressants, can be made that take both the physical pain and the emotional health of the patient into account.
Depression and anxiety can be painful when you’re already dealing with a whole host of other symptoms. And it can spiral the more you feel the effects of HNPP. So it’s important to notice any changes and try to get help as soon as possible.
It can be difficult to pick up the phone, but reach out to somebody and let them know how you are feeling.
Samaritans (116 123) operates a 24-hour service available every day of the year. If you prefer to write down how you’re feeling, or if you’re worried about being overheard on the phone, you can email Samaritans at email@example.com.
Depression Alliance is a charity for people with depression. It doesn’t have a helpline, but offers a wide range of useful resources and links to other relevant information.
The National Suicide Prevention Lifeline is a 24-hour, toll-free, confidential suicide prevention hotline available to anyone in suicidal crisis or emotional distress. A 24-hour an Online Chat in partnership with Contact USA is also available.
Crisis Text Line is the only 24/7, nationwide crisis-intervention text-message hotline.
Samaritans is a registered charity aimed at providing emotional support to anyone in distress or at risk of suicide throughout the United States.
It’s a fact that most people with HNPP know, but there are suggestions that certain exercises can actually do more damage than good. From walking to some types of yoga, while most forms of physical activity are encouraged by gym instructors, our bodies tend to rebel from the norm. But can exercise actually induce HNPP, even though it’s generally thought to be an hereditary condition?
As HNPP is an autosomal dominant disorder in which the condition is inherited and there is a deletion of one of the genes associated with PMP22, a child of an affected individual is at a 50 per cent risk of being affected by the condition. This suggests that the likelihood of a person developing HNPP out of nowhere is relatively low.
What are ‘sporadic’ cases of HNPP?
There have been recent reports that state that a few types of muscle training has actually brought about sporadic symptoms of HNPP without any previous familial history of the condition. Sporadic cases due to de novo deletion accounted for 21 per cent of the investigated HNPP families, as reported by some studies. De novo mutation is an alteration in a gene that is present for the first time in one family member as a result of a mutation in a germ cell of one of the parents or in the fertilised egg itself.
According to a 2017 study carried out by researchers at the Department of Neurology and Rheumatology, Shinshu University School of Medicine, Matsumoto, Japan, this apparently was the case in a 15-year-old boy. The authors suggest that this is the first instance of an adolescent “that developed neurological symptoms during muscle training in a school baseball club activity”, the first signs in a sporadic case of HNPP. The teenager developed bilateral painless brachial plexopathy through short-term barbell training and plank exercises.
“Patients sometimes show an atypical clinical phenotype, and a diagnosis of HNPP can therefore be challenging, especially in sporadic cases as in our patient.”
“Muscle Training-induced Bilateral Brachial Plexopathy in an Adolescent with Sporadic HNPP” – Kodaira, M., et al – July 2017
While brachial plexopathy can be a common feature of HNPP, bilateral involvement is thought to be unusual because HNPP is usually associated as a mononeuropathic condition, where there is a focus in only one area of nerves.
The authors in this case say: “As his clinical and NCS [nerve conduction study] findings indicated muscle training-induced bilateral brachial plexopathy in HNPP, genetic analysis for this disorder was performed, which revealed deletion of the PMP22 gene. Patients sometimes show an atypical clinical phenotype, and a diagnosis of HNPP can therefore be challenging, especially in sporadic cases as in our patient.”
The major difference in this occasion is that not only did he suffer from a bilateral injury, he also developed a sporadic case of HNPP triggered by relatively straightforward exercises. This is unlike some of the other examples where those in military training are far more likely to develop symptoms linked to HNPP, due to the strenuous physical activity undertaken by soldiers. However, this is not the first time ‘push ups’ are seen to be the main culprit as a trigger.
In another 2017 report A Case of HNPP due to Push-up Exercise, a 17-year-old man with no familial history of the condition developed “motor and sensory disturbance of the left upper limb a few days after starting push-up exercise”. Scientists from the Department of Neurology, Hirosaki University Graduate School of Medicine, say that the patient also developed brachial plexopathy, similar to the case above.
In the abstract, they conclude that: “Genetic tests revealed a diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP). HNPP should be included in the differential diagnosis for neuropathy due to slight exercise or nerve compression even when familial history is negative.”
Researchers from the Division of Neurology and the Department of Pathology, University of Missouri School of Medicine, Columbia, USA, found a case in 2004 akin to the above studies. A 21-year-old in good health began to develop symptoms of HNPP on her first day of military training. She began to show symptoms of severe pain, weakness, and atrophy in her right shoulder, foot and hands. Her mother and her family had no history of neuromuscular disease. She did not know her father or his family history.
They say: “While the presentation and severity of this patient’s condition may relate to a specific unknown genetic profile with very low PMP-22 mRNA levels, Schenone et al, in finding correlations between reduced PMP-22 mRNA levels and disease severity, also suggested that extrinsic factors—for example, level of physical activity, may be important in determining phenotypic features.
“This appears to be true of our patient—that she was neurologically normal, then developed symptoms on the first day of military physical training with progression as she continued the training over a three week period, suggests that disease severity and focal axonal damage were related to these intense activities.”
The authors add: “Additionally, as it has recently been recognised that sporadic cases of HNPP are common, either because of de novo mutations or asymptomatic carriers, her lack of family history did not preclude this diagnosis.”
How likely is it that a case of HNPP is sporadic?
It’s important to note that HNPP may not be easily traced in other family members, which means while it may appear sporadic, it could just have been overlooked. A 2013 case report reiterates this view, with authors saying that approximately one-third of deletion carriers are unambiguously detected on the basis of “electrophysiological criteria and confirmed by genetic analysis are asymptomatic and do not display significant signs at clinical examination.”
Researchers from Department of Paediatrics, Hospital de Guimarães, Portugal, say: “Thus, the family history is often uninformative, and a significant proportion of probands may be considered as apparently sporadic cases. However, a close questioning and examination of the relatives provided evidence for autosomal dominant inheritance in families that were originally stated by the probands to be normal. Therefore, HNPP can easily be overlooked in those cases in which familial involvement is not recognised unless intensive ascertainment techniques are used.”
Electrophysiologic studies are said to be “suggestive” and not “sufficient for diagnosis” which may be why it may be imperceptible to locate.
How exercise can trigger symptoms
The more frequent representations are in those who already have familial histories of HNPP, or in those who have already been diagnosed. In one such case in 2005, hiking and athletic training brought on the symptoms. A 10-year-old girl, who suffered from acute, recurrent monoplegic episodes affecting both the sciatic nerves and the left brachial
plexus since the age of 7, showed quite a lot extensive symptoms from relatively low impact exercise.
Authors from the Department of Paediatrics, Yokohama City University Medical Centre, Japan, say: “This school child having HNPP is considered to be susceptible to the influence of abundant physical training, rather than minor trauma or compression at sites of entrapment of peripheral nerves.” However, this is hardly surprising given the nature of the condition. What’s more unusual are the situations where HNPP is not present beforehand or without familial background.
It goes without saying, exercise can cause many types of injuries even for those without HNPP depending on how extreme it may be. And as we have seen above, there have been at least several cases of ‘sporadic’ HNPP, which develops without any prior history of symptoms or familial connection.
However, it may be worth noting that without the correct tests to detect hereditary links, these may be incorrectly termed as ‘sporadic’. That being said, there have been established reports that suggest at least 21 per cent of HNPP cases are de novo mutations, so it may not be out of the realms of possibility that certain types of exercise can induce symptoms of HNPP.
Having HNPP thankfully isn’t the end of the world, but it does make things rather difficult when it comes to relationships. This may not apply to you if like many of the individuals on the HNPP Facebook groups, are already happily or regularly married or in a relationship of any kind. But for those who are trying to balance both worlds, many become apprehensive of making another commitment, when all you’re trying to do is look after yourself. So how do you manage?
Relationships are always work. Add significant stress to the situation and they’re extra work. And HNPP falls under the “stress” umbrella, which tends to add complications to every stage of a relationship, just as it gets in the way of everything else.
For sure! Legit, dating w chronic illness is hard so just find things you enjoy and don't exhaust you and have fun!!😘
Dr. Morwenna Opie, a Clinical Psychologist who works at the Nightingale Hospital in London, UK, says that “healthy” relationships are important. Dr. Opie, who has been diagnosed with POTS secondary to Sjögren’s Syndrome, states: “Healthy, supportive, and fun relationships can be our greatest asset in shaping a happy and fulfilling life, and this is especially the case when opportunities for physical activity are more limited.”
However, she adds a warning to this statement: “maintaining unhealthy relationships can be more toxic to our health as those chocolate binges or caffeine or whatever else we might have resolved to do away with this month. The evidence continues to accrue demonstrating that social stressors and anxiety takes their toll on our immunological functioning, and all aspects of our physiology, with the potential to cause a vicious cycle of deteriorating physical and mental health – and relationships.”
Getting back into dating after having gone through a lot of chronic illness treatment and it's not easy. 1/n
The most important relationships she says are friendships which require constant maintenance just like any other kind of connections, which is the first step ahead of dating. Think of it as the steps to rehabilitation. Unlike trying to stay sober, your priority is first to yourself and maintaining the connections you already have. Hence, just like in Alcoholics Anonymous, it is recommended that people who are still within the first year of their recovery should avoid beginning romantic relationships.
The first few months of recovery are often described as an emotional rollercoaster because there is so much going on. The last thing that an individual will want to do will be to add the stress of a new relationship to the mix. It is going to take all your attention to make it through this early part of recovery. It’s also important for you to come to terms with yourself during this time.
As a result, the worry for many trying to date for the first time after a diagnosis is seeing yourself differently, acceptance from the other person, and generally managing the symptoms on a day-to-day basis. Therefore, there are several questions you need to ask before making that leap.
Are you in a position to date?
Your symptoms are manageable – it may seem obvious but being bedbound or homebound will clearly present its own problems. Unfortunately, this alone may take you out of the game since your symptoms may require you to stay at home, sometimes out of commission entirely.
Coming to terms with the condition – if you’ve only recently been diagnosed and haven’t yet worked through the five stages of grief, you’re not in a position to start dating. You’re only ready once you’ve learned to accept your illness and begun to feel at ease with yourself.
You have a life outside your condition – if your chronic illness defines you instead of just representing one part of you, don’t think about dating. Even if you can no longer hold a regular job, you must have something going on in your life to attract a potential partner. This is where hobbies are useful.
What to look for in a partner
You’re ready to jump into the crazy world of dating, so now what? Well, before filling up your calendar with potential male or female suitors, you should have a clear idea of the type of qualities to look for in a mate. Best to look for a partner and not a caregiver:
Your date should be:
Accepting – they understand your limitations and doesn’t try to convince you otherwise.
Adaptable – they try to find activities both of you can enjoy and doesn’t get upset when you’re forced to cancel at the last minute.
Dependable – they are there for you when your illness becomes too much to handle on your own.
Humorous – they try to make you laugh during tough times (and good times!)
Respectful – they treat you well and admire your courage without “babying” you.
Supportive – they ask questions about your illness and strive to learn more about it.
Responsible – they are careful with money especially when factoring in costs to treat your illness.
When should you reveal your condition?
Dr. Gail Saltz, M.D., a renowned psychoanalyst, columnist, bestselling author, says: “In the dating world, it’s really about when you choose to discuss the topic of illness. It’s important to be thoughtful about when might be the best time; not disclosing this part of yourself too early or waiting too long.”
One of the biggest challenges about dating when you have a chronic illness is trying to figure out when to tell the person you’re dating about your disease. Some people will tell you that you have to wait until things are more serious between you two before the big reveal about your illness.
Dating with a chronic illness sucks. I never know what to say or when to say it.
Other people will tell you it’s absolutely mandatory to inform them up front, because they should understand that dating you might have some challenges so they can decide if those challenges outweigh the awesome privilege of getting to be with you. There is no exact science to it.
The most important part is to not feel obligated to share such a sensitive and personal part of your life if you’re not ready yet. Let your illness come up naturally (well, as natural as a discussion about a chronic illness can be anyway) and when you feel comfortable.
Ken Robbins, MD, a clinical professor of psychiatry at the University of Wisconsin–Madison says that if you’re especially worried that your health secret “is likely to define you before the person has gotten a chance to know you at all”, then don’t mention it on the first date.
“I don’t talk about my illness on a first date. I may mention why I don’t eat gluten or, “Yeah, I have a bum knee so I can’t run! It sucks!” But I don’t dive into details.”
“How I Learned to Date With a Chronic Illness” – Jacqueline Raposo, Cosmopolitan
But there’s one exception and that’s if personal information about you living with a chronic illness is already out on the internet. In this case, you may want to tell your date sooner than later because there’s a good chance they have Googled your name and found out about you.
How should you reveal it?
Unfortunately, there’s no easy way to tell your date about your chronic illness. Here are some tips to revealing information:
Practice what you’re going to say – rehearse your speech with a trusted friend or visit a therapist to talk it through, suggests Dr. Robbins. He adds: “Its good to have somebody as a sounding board in a situation like this,” he says. “How you handle this is not something your partner is likely to forget.”
Be casual but confident – creating a conversation bridge or segue will be useful such as, “I feel like were heading in a great direction, so I wanted to tell you something.” Just don’t overdo it: “You don’t want to frame this in a way that ends up making a bigger deal of something you don’t want made into a big deal,” Dr. Robbins says. In other words, make your delivery as drama free as possible.
Seeking out relationships online – if you tend to meet potential partners through online networks such as Facebook or Match.com, you shouldn’t hint in your profile that you’re concealing a health secret. However, if you’re nervous about rejection or misunderstandings, you might be more comfortable dating someone with similar health issues. Just make sure you’re in the right frame of mind for this, and be prepared for rejections. There are many niche sites that cater to people with specific conditions, and they’re a great way to be up-front with potential mates who are in the same boat:
Know when to give your partner space – Rachel A. Sussman, LCSW, a New York City therapist and relationship expert, says it’s possible that there could be an awkward moment. “[If that happens], say, ‘I can tell by your expression that this is a lot to digest and I completely understand, and Ill give you the time and space to do that,” she says. Then, offer some physical distance but stay in contact.
Don’t take rejection personally – “A good person will listen and be kind and not judge, but if [your health secret is] something they cant live with, that doesn’t make them a bad person,” says Sussman. “It just makes them a bad match.” And there can be multiple reasons for a rejection – many of which have nothing to do with you at all. If things were going well up until the time you told them, keep in mind that they rejected your health condition, not you. At the end of the day, it means that they were not the one.
Dating with chronic illness is hard for sure, and there are times when you may feel undateable. Self-care should still be your number-one priority. But there are many things you can offer your dates because you’re much more than your illness.
You could be a great listener, a deep empath, an entertaining storyteller. Sometimes dating is a great way to get yourself out of your head and out of bed, even when the latter seems impossible or undesirable at best.
In the words of Deepak Chopra:
“To value yourself is to love yourself. It is really from here that your love for others comes. If you value yourself a great deal, you actually have something to give to others.”
The fastest way to love and connection is to show the other person who you are right now, in this imperfect moment.