When HNPP ’causes breathing problems’

Aug 7, 2017Aug 15, 2017 suswatibasu7 Comments

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

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

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

Why does it happen?

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

Hypoglossal Nerve

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

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

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

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

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

Phrenic Nerve

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

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

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

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

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

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

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

How likely is it occur?

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

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

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

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

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

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

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

Read: Can HNPP lead to bone-related issues?

HNPP, belief and the impact of misdiagnosis

Aug 4, 2017 suswatibasu1 Comment

The cause of HNPP remains unknown. Only the fact that it is an inherited condition is recognised. According to many websites, it’s considered “painless” or the symptoms are “mild”, which is obviously not the case for many living with the disorder. It definitely makes it difficult when it comes to being believed let alone getting a correct diagnosis.

“Pain is whatever the experiencing person says it is, existing whenever the experiencing person says it does.”

Margo McCaffery, 1968

Living with Hereditary Neuropathy with Liability to Pressure Palsies can be challenging. You may experience pain and fatigue that interferes with daily activity. But yet your family, friends, and even your doctor may not understand your concerns. Also, some people may not think HNPP is a “real” condition and might believe symptoms are imagined.

It’s estimated that every 12.5 out of 100,000 people live with it but may not have been diagnosed. The condition can affect anyone at any age. But it is often misdiagnosed as either its sister disorder, Charcot Marie-tooth syndrome, Bell’s palsy among a huge list of other conditions including mental health issues.

But being wrongly diagnosed is not as uncommon as you think.

An estimated 12 million Americans a year are misdiagnosed with a condition they don’t have. In approximately half of those cases, the misdiagnosis has the potential to result in severe harm.

According to the Scientific American, writer Judy Stone says in cases where a condition is considered “rare”, in one survey, it took patients in the US an average of 7.6 years to be properly diagnosed, after visits to eight physicians. During that process, they received 2-3 misdiagnoses. In the UK, it was 5.6 years for a correct diagnosis.

So what impact does lack of belief have on sufferers?

In the 2008 study The Effects of Failing to Believe Patients’ Experience of Chronic Pain, the authors state: “Pain assessment depends on the patient’s self-report of pain and therefore accurate assessment cannot be achieved unless practitioners believe patients.” Taking a hermeneutic approach, where the methodology of the research is based on human experiences rather than quantitative analysis, patients were approached to record their daily life living with chronic pain.

The results showed that six out of the eight participants felt they were being stigmatised, while the other two, who did not have an issue with being believed both had a long-term physical disability.

“He (GP) was another one who blatantly said to me “I do not believe you are in pain” and he went to walk out the house – he wouldn’t give me pain relief”

“The Effects of Failing to Believe Patients’ Experience of Chronic Pain”, Clarke, K.A et al, 2008

As the authors also report that this could be due to the fact that they may have appeared more credible because they had a physical disability that made the pain appear more visible. The participants said that because they felt they weren’t being believed, it made them feel:

Like a burden
Alienated
Angry
Depressed
Suicidal
Not taken seriously

The report concluded that healthcare professionals “through attitude or actions such as withholding analgesia – demonstrate that they are not accepting patients’ reports of pain.”

It added that while each professional is entitled to their own opinion about the credibility of patients’ accounts but it is a professional responsibility to accept patients’ report and to help patients by adopting a positive and responsive manner.

What can happen with lack of belief?

The even bigger problem that this may pose is the fact that if a patient isn’t believed, it paves the way for doctors to incorrectly diagnosis or even completely ignore that there may be an underlying health concern.

This can be seen in the case of blogger, Nadia Tasher, where her doctors diagnosed her with anxiety, when in actual fact she had the rare chronic autoimmune condition Lupus. It took her 80 visits to a GP in the space of one year just to be diagnosed.

https://www.instagram.com/p/BSjnwRqhLb0/?taken-by=nadiaamytasher

And there is a whole spectrum of conditions where sufferers appear to face issues with being believed and getting the right outcome. From Fibromyalgia, to chronic fatigue, unfortunately HNPP lists even further below this category of rare disorders. As seen in the report above, until medical practitioners get a little more clued about chronic pain, fatigue, illnesses as well as HNPP, the onus may have to fall upon the sufferer to push for answers.

What to ask a doctor if you feel they don’t believe you

Here are some tips to help you navigate doctors when they are sceptical of your pain.

Tell your entire relevant story – it’s important that you are able to tell the entire story about your pain. When did it start? What does it feel like? Do any activities make it worse? What makes it better? If telling the story is difficult for you, write it down. If the doctor interrupts you as you are telling it, ask him or her nicely if you could continue before any questions, because it is important that you let them know everything that is going on with you. At the same time, keep the story succinct – the doctor doesn’t need to hear about unrelated events or conversations.
Medical records – if you have records from previous doctors, imaging (both the imaging itself and any reports from the radiologist), tests, or journals you have kept, definitely give them to the doctor to review. Some patients even send their records, journals, and questions ahead of time if the doctor is open to it.
Type of doctor – a general practitioner may not know very much about a specific type of pain. Always consider the source of any advice or opinion (medical professional or not).
Ask questions – if a doctor tells you he/she believes the pain is in your head, ask why they may think that. Sometimes at this point, the doctor will admit that they just aren’t sure how to help you. Ask for a referral. If they don’t know who to send you to, ask them if they have a colleague who might know. If he or she doesn’t have a colleague that knows, get on the internet and look for one right there with the doctor.
Searching for doctors – if you feel a doctor does not have your best interest at heart, then try and look for another one. It’s more than okay to look for a doctor who listens, helps you feel empowered, and treats your pain seriously. They are out there.
If all else fails – if you don’t have the option to change doctors, then agree to get a referral for a psychologist – they may actually be able to evaluate your pain correctly and then forward on the paperwork back to the doctor.
Believe in yourself – it’s very easy to become disheartened when you feel like no one is listening to you. Hence if needs be, practice what you are going to say, and take a list with you, so that you can effectively communicate with them. Another option is to take someone with you who sees the pain everyday and can explain it even better. Your doctor should be a partner in your health, not someone you fight with or against.

You might not be able to change some things that affect your doctor’s attention span, such as the shorter and shorter visit times that are common. But you can take steps to make sure your concerns are heard in the time you have.

Read: Patient-doctor relations and HNPP

HNPP · Medication · Physical Health

Coping with multiple conditions including HNPP

Aug 1, 2017Aug 1, 2017 suswatibasu3 Comments

Many people living with HNPP have the arduous task of coping with more than one condition on top of the neuropathic symptoms. From dystonia and asthma to peripheral oedema, or mental health conditions, those with HNPP battle a range of conditions. So how do you deal with multiple diagnoses?

Coping with multiple issues can be a bit overwhelming, and it adds a layer of challenge that might not be present for the friend of a friend who has one of your illnesses in common, but runs 5k races.

“In people with multiple chronic conditions, physical and emotional symptoms can compound and build off of each other, resulting in a larger negative effect on their daily lives.”

“Challenges of self-management when living with multiple chronic conditions”, Clare Liddy, 2014

More than one in four Americans have multiple (two or more) concurrent chronic conditions (MCC), according to the U.S. Department of Health & Human Services. As a result, people with several different illnesses tend to have poorer day-to-day functioning. In England, UK, the figure is said to be about 2.9 million people with multiple long-term conditions and the number is thought to be rising.

A 2012 study in the British Medical Journal says that doctors are still unprepared with dealing with ‘multimorbidity’ – that is, the coexistence of multiple chronic diseases and medical conditions in one individual. The authors say: “Despite the increasing numbers of patients with multimorbidity, evidence on the effectiveness of interventions to improve outcomes in such patients is limited.

“The clinical care of these patients is complex and the evidence base for managing chronic conditions is based largely on trials of interventions for single conditions, which too often exclude patients with multimorbidity.”

The impact of multimorbidity

And research shows that multimorbidity has an additional impact on those individuals including emotional challenges of dealing with a group of chronic conditions. Clare Liddy, MD, an Associate Professor in the Department of Family Medicine at the University of Ottawa in Ontario, says “In people with multiple chronic conditions, physical and emotional symptoms can compound and build off of each other, resulting in a larger negative effect on their daily lives.

“These symptoms are interdependent and symptoms of one condition can be aggravated by the symptoms, treatment, or medications of another condition. Some symptoms might overshadow others and reduce the patient’s ability to manage his or her care.”

Liddy suggests ‘re-prioritising’ to learn to cope with the negative effects of the various illnesses.

Changing cognitive approaches – patients with multiple conditions found that changing their thinking or conscious mental processes had a positive effect on them. Living with multiple chronic conditions became a way of life for some people, who reported fluctuating between “living a life and living an illness.” Liddy notes the current changes in those with multimorbidity:
- reframing and regulating the amount of attention given to their situation
- engaging in life and body listening
- relinquishing control to another source – faith and doctors seem to be heavily relied upon
- changing their beliefs (for example assigning new meanings to daily chores or activities)
- self-monitoring – keeping an eye for any changes
- self-advocacy – approaching and asking for help whenever necessary.

Other important tasks to note include:

Social support – an important part of dealing with comorbidity is to have a support network of some sort. However, if you have the incorrect kind of support, friends and family may become a barrier to self-management, and they may end up interfering where unnecessary. The key is to create clear-cut boundaries and let them know how and when they can help you. Group activities such as walking have been shown to help with psychological issues, such as loneliness and depression. Joining a support group can also help.
Read about your condition extensively – the better equipped you will be when approaching your healthcare providers if you know what to expect. At times, you may find practitioners giving you contradictory information. Note it down, and then approach them carefully with what you have observed.
Multiple care approach – you may detect that some medical practitioners are still not completely skilled at dealing with multiple conditions, they may prioritise one condition over the other, so it’s important to keep that in mind and see that they can also deal with the other issue(s) in a similar manner. The best chance of this is to have a multidisciplinary team working with your needs.
Organise your medication – if you have lots of medicines to take, it can be hard to keep track. Some people find a dosette box or pill organiser (a plastic box which is separated into different compartments for each day and each time of day) helpful. You can get these from pharmacies or buy them online. Usually you would fill these once a week – ask someone to help you if necessary. Or you could try making a daily chart to show when you should take each medication. Or you could label your medication containers with the time you should take them, or keep medication where you are likely to take it at the time – for example, put breakfast tablets in the kitchen, and bed time pills on your bedside table. If you can’t manage with taking 18 tablets a day, it may be worth revisiting your doctor and being honest about it.
Take it day-to-day – this means prioritising your needs on any given day, for example, if you feel more tired due to one of your illnesses, then rest, or if you’re feeling depressed more so than usual, then address those needs first.

It’s unbelievably difficult to cope with one let alone several chronic illnesses. And it’s exacerbated by the fact that doctors are only just coming to see how big an impact this is having on society as a whole. However, thinking of it as a list of things to keep crossing off, over time with good care, more coping skills, better management of medication changes, surgeries and therapies, it will seem that tiny bit easier.

HNPP · Physical Health

Should you take part in clinical trials for HNPP?

Jul 17, 2017Jul 17, 2017 suswatibasuLeave a comment

“Clinical trials” is phrase that’s always bandied about for illnesses such as cancer, and you may wonder what it actually is and whether it’s worth taking part. The use of human volunteers to collect data is not always for everyone. It is wrapped in the enigma of experimentation and feeling exploited. But what is it all about?

“Fear is a greater barrier than the reality.”

Robert L. Comis, M.D

The National Heart, Lung and Blood Institute, run by the US Health Department, describes a clinical trial as research studies that explore whether a medical strategy, treatment, or device is safe and effective for humans. These studies enable medical professionals to follow the best path for certain illnesses or groups of people. The NHLBI say: “Clinical trials produce the best data available for health care decision-making.”

So why are people reluctant to take part?

A survey by Harris Interactive, Inc., showed that of the patients who knew about clinical trials, 71 per cent still chose not to participate.

Uncertainty of treatment – Fear of being treated as a guinea pig and getting a placebo is the most common factor that pulls patients away from clinical trials. In fact, placebos are rarely used in cancer treatment trials, and never in lieu of standard treatment, according to Robert L. Comis, M.D., president of the Coalition of National Cancer Cooperative Groups and chairman of the Eastern Cooperative Oncology Group in Philadelphia. Ninety-seven percent said they were treated with dignity and respect, and received excellent or good quality care.
Worry about insurance – For our US friends, one in five participants were concerned that their insurance companies may not pay out. But for those who enrolled in clinical trials, 79 per cent said their insurance company ultimately paid for the care they received.
Uncertainty of results/adverse effects – People are afraid whether the new therapy will work to improve their health or worsen their disease. Although researchers cannot guarantee outcomes, patient safety is apparently top priority. Each trial has enforced oversight, and patients also have rights that help protect them. Currently participant’s right are protected by regulatory bodies like the Institutional Review Board (IRB) in the US, and Medicines and Healthcare products Regulatory Agency (MHRA) in the UK. There will be an equivalent to your native country, usually through the government.
Inconveniences. Some people can’t commit to the time required to participate in a clinical trial. Others may find the available hours incompatible with their schedule. Travel is an issue for some, whether they’re unable to transport themselves or find a geographic location close enough. Other social and economic disadvantages contribute to some populations being underrepresented. Some trials even pay the participants for enrolling in a trial. However, FDA suggests people must learn thoroughly about the risks involved in a study before enrolling, and not get lured by the free treatment or money being offered.
Missed opportunities – Low enrolment is attributed to many factors and varies on a per study basis, but if more people knew about clinical trials there would certainly be more participation. One study found that only one in three US adults knew about clinical trials, of the 1,000 surveyed.

The NHLBI state: “The purpose of clinical trials is research, so the studies follow strict scientific standards. These standards protect patients and help produce reliable study results.”

But does that ease our fears?

To be fair, it’s unusual for clinical trials to try something completely experimental. They usually go through a lot of scientific research before getting to this stage. That being said it is important to check the credentials if you do wish to take part.

It is one of the final stages of a long and careful research process. The process often begins in a laboratory, where scientists first develop and test new ideas.

If an approach seems promising, the next step may involve animal testing. This shows how the approach affects a living body and whether it’s harmful. However, an approach that works well in the lab or animals doesn’t always work well in people. Hence, research in humans is needed. It may start off with only a few patients, in order to ensure safety, while in later phases of clinical trials, researchers learn more about the new approach’s risks and benefits.

Why do they need volunteers?

Volunteers can play an important role at this stage of development, which is crucial for new treatments to reach pharmacy shelves. Without sufficient numbers of trial participants, the drug development process stalls and a trial must be repeated, scaled back or, even worse, the potential new therapy is abandoned. This lengthens the time it takes for new treatments to come to market. No amount of funding or other resources can compensate for the lack of clinical research volunteers.

According to the Foundation of Peripheral Neuropathy, across all diseases, 85 per cent across of clinical trials finish late due to difficulties enrolling participants and nearly one-third of trials fail to recruit a single subject and cannot ever begin.

Phases of the trial

Clinical trials are conducted in phases designed to answer a separate research question.

Phase 1 Safety testing of a small batch of healthy volunteers – recruiting only a few patients, usually less than 100. The first few patients to take part (called a cohort or group) are given a very small dose of the drug. If all goes well, the next group have a slightly higher dose. The dose is gradually increased with each group. The researchers monitor the effect of the drug until they find the best dose to give. Doctors/researchers look at how the drug affects the volunteer: How is it absorbed? How is it metabolised and eliminated from the body? Does it cause side effects?
Phase 2 Testing effectiveness and safety on small batch of patients – doctors evaluate the candidate drug’s effectiveness in a larger group of patient volunteers. In this case, researchers compare the efficacy of the drug on the patient compared to a different treatment. Patients are either given a placebo or a drug that is already used for treatment. Some phase 2 trials are randomised. This means the researchers put the people taking part into treatment groups at random. Doctors/ also analyse optimal dose strength and possible side effects.
Phase 3 Testing effectiveness and safety on a much larger group of patient volunteers – Phase 3 trials usually involve many more patients than phase 1 or 2. This is because differences in success rates may be small. So, the trial needs many patients to be able to show the difference. This phase of research is essential in determining whether the drug is safe and effective. Patient volunteers are divided into three groups: the group that gets the standard treatment; the group that gets the new treatment being tested; and if doctors do not know if the new treatment is better than the standard treatment, but they believe it is as good and may be better.
Phase 4 Researching long-term side effects – Phase 4 trials are usually done after a drug has been shown to work and has been granted a licence. The goal of this phase is to continue studying side effects of a new treatment.

If you take part in a clinical trial, you may be one of the first people to benefit from a new treatment.

However, there is also a chance that the new treatment turns out to be no better, or worse, than the standard treatment. It’s a chance / risk, and ultimately it’s your choice if it really is for you.

Where to find clinical trials:

Centerwatch.com – global database of clinical trials
NHS.uk – UK-based clinical trials
UK Clinical Trials Gateway – Educational side of the NHS
Global Register for Inherited Neuropathies – collects clinical and genetic information on patients from around the world diagnosed with various forms of hereditary neuropathies
ClinicalTrials.gov – US health department based clinical trials
World Health Organization – International clinical trials registry platform

HNPP · Medication · Physical Health

Patient-doctor relations and HNPP

Jul 15, 2017Jul 28, 2017 suswatibasu1 Comment

One of the most important parts of your journey with any kind of peripheral neuropathy is to establish good relations with your doctor. Having recently had a bad experience with a locum GP, only reiterates the need for clear communication and real understanding, especially with a condition that seems to relatively unknown.

A strong emotional fit between how a patient ideally seeks to feel and their doctor makes it more likely that the patient follows the doctor’s health advice, according to a study by Stanford psychology Associate Professor Jeanne Tsai and Tamara Sims.

Sims said that by learning how patients want to feel and tailoring treatments accordingly, physicians can enhance their patients’ trust in them. Finding out what matters to a patient in terms of goals and values is important, she noted.

“This may open the lines of communication so that not only do patients listen more, but they open up and disclose more information to their provider,” she said in an interview.

Finding a specialist:

Finding a doctor who has the clinical training to diagnose and treat neuropathy is not an easy task, however. As Russell L. Chin, M.D. Associate Professor of Clinical Neurology at Weill Medical College of Cornell University states, “there is insufficient training even in medical school in the clinical aspects of neuropathy”.

Disclaimer: Everything written is based on personal and other’s testimonies, available journals and research.

Then there is the fact that there is no one test to diagnose neuropathy and 99 per cent of what the doctor must use is subjective and you have a cocktail for a major patient-doctor problem. So what can you do?

Dr Norman Latov, who specialises in neurology at Weill Cornell Medicine in New York, and author of Peripheral Neuropathy: When the Numbness, Weakness and Pain Won’t Stop, states early diagnosis and if possible treatment is critical to preventing severe disability. So where to begin?

First understand that peripheral neuropathy is a neuromuscular disease. You need to find a Board Certified Neuromuscular Neurologist as this increases the odds of finding one who is able to diagnose and treat neuropathy. In this case, I found the name of a hospital and doctor through a similar hereditary neuropathy based organisation (CMT UK) and they were able to give more details.
For those in the US, you may want to visit a neuropathy centre and the NSN website has a list of doctors and centres. It is worth reading LtCol Eugene B Richardson’s experience on finding a doctor, in which he had to try out several before settling on someone more suitable.
Ask a nurse at the local hospital or doctor’s office. Ask a support group leader or even ask another patient in a support group. Everyone has different pieces of the jigsaw in regards to information, so it’s worth searching around for it.
Avoid centres and doctors who claim to cure all neuropathies and offer over-stated claims. This again is mostly for US-based sufferers, as there are more private consultants that offer this kind of treatment.

Once you have found someone suitable, it is important to establish a rapport and relationship in moving forward. According to John A. Senneff in Numb Toes And Other Woes, you need to be as specific as possible in describing your symptoms and health concerns, including when the symptoms started, what they feel like, and lifestyle changes you made when they started, anything in particular that triggers them or anything that relieves your symptoms. [1]

What should you do once you have found a doctor?

In terms of working with your doctor, following are some of the suggestions given:

Educate yourself – Your doctor should not be your only source of information. For example, pharmacists and patient support groups can provide useful information.
Ask questions – If you have not call from a newspaper or magazine you would like to discuss with your doctor, don’t be reluctant to take the material with you to your appointment. If you disagree with what your doctor is prescribing do it in a way not to put him or her on the defensive. You may need to be tactful when asking.
Disclose symptoms and medication – For your initial session remember to mention all of your medications including prescription as well as over the counter. Also be prepared to discuss your symptoms in detail.
Discuss your medical history in depth – Don’t be afraid to divulge information that might be relevant. Your doctor will be much more effective in dealing with your problem if he or she knows as much about the surrounding circumstances as you do.
Be honest – even if it’s uncomfortable with meeting to unhealthy behaviour. It is necessary to tell your doctor the truth.
Take notes – if the explanation is complex have your doctor write it down for you.
Get a second opinion – if your doctor advises an invasive test or therapy that carries risk.[2]

Room for improvement definitely exists in the patient-doctor relationship. As Tsai and Sims note, physicians should recognise that their patients have “effective ideals” that might influence how they respond to physicians. In looking at how doctors can improve, the authors add:

Physicians could evaluate their patients’ ideal affect in light of whether there are more effective health care providers or treatments consistent with those ideals.
If none exist, physicians might discuss with patients how their ideal affect might help or hinder specific health care recommendations and treatments.
More effective interventions aimed at educating clinicians about the importance of ideal affect in health care should be developed.

No matter how difficult it may seem sometimes, there are physicians out there who understands the value of the doctor patient-partnership for patients with hereditary neuropathy.

1. Page 237-238, “Numb Toes And Other Woes”, Senneff, John A., 2001.
2. Page 236, “Numb Toes And Other Woes”, Senneff, John A., 2001.