Everything that the body does, from staying warm, to moving and thinking, needs energy. The energy that we use comes from the proteins, carbohydrates and fats in our food. We are unable to use these directly, but instead need to convert them in to a form of energy that cells can use called ATP. You can think of this like a battery. This converts chemical energy into a different form (in this case electrical) that is easier to use. For our bodies, the conversion from food energy to ATP happens in mitochondria. If your mitochondria are not working properly then you are less able to convert food into ATP. For cells that require a lot of ATP, for example your muscles, this is a problem and they may become weaker and get tired faster. Click the items below to learn more.
There is no reason why patients should avoid alcohol, but as with all things moderation is advisable. Excess alcohol can damage both the muscles and the nervous system and it important not to add to any damage caused by the Mitochondrial Disease itself.Back to top
- There are many different clinical presentations within Mitochondrial Disease and the condition often mimics other conditions which adds complexity to diagnosis. For example, problems with eye movement are a common symptom of Mitochondrial Disease however many different diseases cause similar symptoms which inevitably leads to a delay in diagnosis, until other causes are ruled out.
- For some conditions, it remains a real challenge to detect the mitochondrial abnormality. This might be because the biochemical change that we see is very subtle, or alternatively because each patient with Mitochondrial Disease could have any one (or more) of many, many hundreds of possible different causative genetic changes. The identification of these changes can be like searching for a needle in a haystack.
- It is now believed that about 2,000 proteins (or building blocks) are required to make a mitochondrion work. A defect could theoretically affect any of these building blocks and many of the building blocks themselves have not been properly identified in human subjects. This means that both doctors and scientists still have a lot to learn even about the way mitochondria work. Finding abnormalities of mitochondrial function, defining the pathological (disease causing) mechanism and developing treatments, remains something which is being actively pursued in many large centres around the world (including the centres providing the NHS Rare Mitochondrial Disorders Service).
If you or your child is suspected of having Mitochondrial Disease the doctors will undertake a number of investigations. These will determine the nature and also the extent of the Mitochondrial Disease.
Blood and urine samples
Blood samples are very useful to investigate whether or not patients have a high level of lactate (a bi-product of faulty mitochondria). However, lactate levels can vary substantially, particularly if the sample was difficult to obtain, and many patients with Mitochondrial Disease can have normal blood lactate. Some doctors look for other metabolites such as alanine, in blood and occasionally urine. On the whole, whilst these metabolites give important clues as to the presence of Mitochondrial Disease they are by no means specific.
Blood might also be used to detect genetic changes or faults. In patients suspected of having a well known genetic change, blood is a very useful tissue to investigate for some but not all Mitochondrial Disorders. Certainly, common mitochondrial DNA changes associated with well described and well known Mitochondrial Diseases such as Leber’s hereditary optic neuropathy and MERRF can be detected easily in blood, and this is the tissue which most centres would investigate. Nuclear genetic disorders can also be detected in blood and again a blood sample would remain the tissue of preference to investigate patients with suspected nuclear genetic Mitochondrial Disease.
Urine samples are very helpful for the investigation of the 3243A>G MELAS mitochondrial DNA change. The reason for this is that 3243A>G might be at quite low levels in blood and therefore difficult to detect, where as in urine it is usually present at a much higher level.
The brain and spinal cord sit in a fluid called cerebrospinal fluid. Sampling of this fluid by lumbar puncture can be useful in the diagnosis of Mitochondrial Disease, particularly in children. As this fluid surrounds the brain, its composition gives important clues as to how the brain is functioning. A lumbar puncture involves placing a small needle under local anaesthetic into the small of the back in order to collect a very small volume of this fluid. A lumbar puncture test is usually only done in the investigation of Mitochondrial Disease in children. A lumbar puncture test is helpful in distinguishing Mitochondrial Disease from other diseases and can allow detection of high levels of lactate in the cerebrospinal fluid, which surrounds the brain and spinal cord. Lactate is produced if mitochondria are not working well and in some patients, high lactate levels are seen only in the cerebrospinal fluid and not in the blood. Thus it is a valuable test in children who predominantly have neurological problems.
For many patients with Mitochondrial Disease, doctors recommend a muscle biopsy. Muscle is in fact a very good tissue to investigate because it is commonly affected in Mitochondrial Disease and several tests can be done on the muscle biopsy that are extremely helpful. It is certainly possible to look at the distribution of mitochondria on a muscle biopsy and actually to measure the activity of certain enzymes crucial to mitochondrial function. In both children and adults, this may be extremely helpful in finding whether or not a mitochondrial defect is present and also understanding the nature of the mitochondrial problem. These muscle biopsies are taken and may be processed fresh, or more often frozen, in specialised centres (including the centres providing the NHS Rare Mitochondrial Disorders Service). In children, defining whether or not there is a biochemical defect can be extremely helpful in determining whether Mitochondrial Disease is present. Indeed it may be the only abnormality that we are able to detect.
The muscle biopsy is also very helpful in terms of genetic analysis for Mitochondrial DNA Diseases. Mitochondrial DNA changes or faults might only be present at high levels in muscle and thus detecting the abnormality can be much easier in a muscle biopsy than in a blood sample. For example, deletions (where a bit of mitochondrial DNA is missing) or rare 'spelling mistakes' (where only a single base is changed in the 16,500 base pair genome) might only be detectable in muscle. Therefore, the extensive genetic investigations that are performed are often better done in muscle biopsies rather than in blood samples.
In many patients there is disturbance of brain function associated with Mitochondrial Disease. This disturbance of brain function is picked up clinically, but working out which bits of the brain are affected is often helped by taking pictures (or images) of the brain. There are two main modes of imaging, one is using a CT scan, which is like a sophisticated x-ray and the other is using magnetic resonance imaging (MRI scan). On the whole, a MRI scan gives much more information, but is more difficult to perform since it usually takes at least 20 minutes (much longer than in a CT scan) to obtain good quality images of the brain. These images can be extremely helpful in working out whether patients have Mitochondrial Disease and also the severity of the disease.
Clinical guidelines on genetic testing
Best practice guidelines for professionals on genetic testing for mitochondrial diseases have been published by the NHS Highly Specialised Service for Rare Mitochondrial Disorders, and can be found be clicking hereBack to top
Having a diagnosis of Mitochondrial Disease does not necessary mean that all patients will develop health complications from the disease. Many patients with a diagnosis could remain symptom free during their lifetime.
However, if your health and your ability to work or to complete everyday tasks are affected, you could consider applying for benefits to help you with your living costs.
If you have difficulty with everyday tasks or getting around, you might be able to get:
- Disability Living Allowance (DLA) if you’re under 16. For more information you can go to Disability Living Allowance (DLA) for children: Overview - GOV.UK (www.gov.uk)
- Personal Independence Payment (PIP) if you’re 16 or over and haven’t reached State Pension age. Personal Independence Payment (PIP): What PIP is for - GOV.UK (www.gov.uk)
- Attendance Allowance (AA) if you’ve reached State Pension age. Attendance Allowance: Overview - GOV.UK (www.gov.uk)
DLA, PIP and AA are all non means tested benefit and you do not need to have paid national insurance contributions to get them.
If someone looks after you and you receive PIP, DLA or AA the person who looks after you may be able to get Carer’s Allowance (CA). Carer's Allowance: How it works - GOV.UK (www.gov.uk)
If you cannot work because you are sick or disabled and you are employed, you will usually get Statutory Sick Pay (SSP) from your employer for 28 weeks. Statutory Sick Pay (SSP) : Eligibility - GOV.UK (www.gov.uk)
If you are employed but you cannot get SSP, or if your SSP has ended or if you are not employed you may be able to claim Employment and Support Allowance (ESA). Employment and Support Allowance (ESA): Overview - GOV.UK (www.gov.uk)
You might be able to get Universal Credit (UC) if you’re not working or you’re on a low income. Universal Credit: What Universal Credit is - GOV.UK (www.gov.uk) . If you are entitled to this benefit, you will usually get a one monthly payment to cover your living costs. If you claim Universal Credit as a couple, you and your partner will get one payment between the two of you. The payment is made up of a basic 'standard allowance' and extra payments that might apply to you depending on your circumstances.
You might be able to get extra payments if you look after one or more children, work and pay for childcare, need help with housing costs, are disabled or have a health condition, are a carer for a disabled person or if you have a disabled child
Universal Credit does not cover help with your Council Tax. Remember to also check with your local council to see if you could receive a Council Tax reduction or a discount. Apply for Council Tax Reduction - GOV.UK (www.gov.uk)
You could use the following benefit calculators to check if you may be entitled: Turn2us Benefits Calculator , Benefits Calculator - entitledto - independent | accurate | reliable or Better Off Calculator | Policy In Practice. If you need support with your benefit calculation you could contact your local Citizens Advice. To find contact details of your local Citizens Advice please go to Search for your local Citizens Advice - Citizens Advice. For other ways to get advice you can go to Getting Advice | Disability Rights UK
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Blood donation guidelines for individuals with mitochondrial disease can vary depending on the specific type and severity of the disease. Mitochondrial diseases are a diverse group of disorders, and individuals may have specific consideration and restrictions when it comes to blood donation.
Some factors to consider when making the decision around whether to give blood include;
- Overall health – The general health of the individual, including the severity and stability of their mitochondrial disease, will be taken into account. If the disease is well-managed and stable, blood donation may be considered.
- Medications – Some individuals with mitochondrial disease may require medications that could affect blood donation eligibility.
- Symptoms and complications - Depending on the specific symptoms and complications associated with the mitochondrial disease, there may be potential risks associated with blood donation. For example, if an individual has a history of heart disease, severe anaemia or clotting disorders, blood donation may not be recommended.
Blood donation centres typically have specific eligibility criteria and guidelines to ensure the safety of both the donor and the recipient. https://www.blood.co.uk/who-can-give-blood/
Mitochondrial disease is not listed specifically as a condition that prevents you from donating blood however some symptoms or procedures that you may have as part of your mito may prevent you from donating. You can check your eligibility by following this link https://my.blood.co.uk/Check/0
The safety and suitability of blood donations for individuals with mitochondrial disease should therefore be evaluated on an individual basis and if you have any concerns, you should consult with a healthcare professional familiar to your specific condition.
You cannot ‘pass on’ mitochondrial disease through blood donation.Back to top
The conversion of food energy into ATP is a crucial function of mitochondria. You might think that because affected mitochondria are less efficient at making ATP that you could overcome this by eating more.
Unfortunately, this is not the case and all that this achieves is that you get heavier. Nor does it seem that one type of food is easier to convert into ATP than another, and so high carbohydrate or high fat diets are not of benefit. Food contains vitamins and minerals as well as energy and it has been suggested that increasing the amount of certain vitamins may help. Many patients are prescribed ubiquinone, a vitamin that works in the mitochondria. No one is certain that this is of benefit, but there is no doubt that some patients feel better taking ubiquinone. However, others feel no benefit. In the clinic we usually suggest people try it for a period of 3 months to see if it helps. Some younger patients are also given riboflavine and thiamine vitamins. There is even less evidence that these help, but again they are unlikely to do harm and do help some patients.
During minor illnesses, it is important to avoid fasting and dehydration. Many patients benefit from having small snacks or high calorie drinks at hand to consume during vigorous activity.
Overall, the best advice is to eat as balanced a diet as possible, and that it may be worth trying ubiquinone or other vitamins on the advice of the specialist.Back to top
It is important to stress that whilst we can offer advice as to your suitability to drive the final decision lies with the DVLA. Furthermore it is up to you the patient to inform the DVLA of any medical conditions that may affect driving. The DVLA will then send you a questionnaire to fill out and may contact your specialist for an opinion. If you continue to drive without informing the DVLA, your insurance would be invalid and could lead to you being prosecuted. The advice given below applies only to a standard car and motorcycle licence; the regulations for LGV and PCV licences are far stricter and you would need to check with the DVLA carefully.
There are several potential complications that mitochondrial patients may develop that can influence driving ability:
Some patients with MELAS or MERRF may develop seizures. If you have an epileptic seizure you cannot drive for at least six months, but additional seizures or a predisposing factor such as MELAS or MERFF makes this more likely to be one year. It does not matter if the seizure happens during the day or at night. It is your responsibility to inform the DVLA and your insurance company. After the specified time period (six or twelve months), as long as you do not have any further seizures you would be able to reapply for a licence. It does not matter if you are on anti- epileptic medication or not. The only exception to this is in the rare case that patients only ever have seizures at night. If you have had exclusively night-time seizures for three years (with none during the day), you can re-apply for a licence to drive only during the day.
All drivers must be able to read (with the aid of glasses or contact lenses if worn) a number plate at 20 metres. The standards are stricter for LGV/PCV licence holders. Certain groups of our patients, particularly those with LHON or OPA1, can suffer a significant loss of visual acuity and may need to advise the DVLA of this.
Patients with difficulties in moving the eyes (CPEO) are not prevented from driving unless this leads to significant double vision. Car licence holders can continue to drive as long as the double vision can be corrected with prisms or with an eye patch.
Another common problem for our patients is the development of drooping eyelids (ptosis). There are no specific rules about this, but if vision is obscured by your eyelid then driving may not be safe. In these cases you would need to consult the DVLA for advice.
Profound deafness is not a bar to holding a car licence, but holders of LGV/PCV licences must be able to prove that they can communicate in an emergency by speech or with a MINICOM device.
Patients on insulin treatment for diabetes must be able to recognise the onset of a hypoglycaemic event and meet the vision requirements above. Normally only a temporary licence of 1 to 3 years is issued with the need to renew. Patients on tablet or diet controlled diabetes should let the DVLA know but are able to continue driving as long as other requirements are met (eg vision).
Weakness and inco-ordination
The requirements are that any disability is not “likely to affect vehicle control because of impairment of co-ordination and muscle power.” This is obviously difficult to define and you may need to contact the DVLA for advice.Back to top
As an initiative of International Mito Patients (IMP), a group of experts in mitochondrial disease carried out a study into the safety of medicines in mitochondrial patients. The study took place on an international level and resulted in the publication of a list of drugs to be used with caution in primary mitochondrial disease. More information about this list is below.
What is the list?
This is a list of medicines (drugs) that should be avoided or used with caution in people affected by a primary mitochondrial disease. Patients suspected of having a primary mitochondrial disease, but in whom the diagnosis has not yet been confirmed by doctors, may also consult this list. The list was compiled by a group of experts in mitochondrial disease (doctors, pharmacists and scientists), after careful consideration and consultation.
What is a primary mitochondrial disease?
This is a genetic disorder that affects the function of the mitochondria. Mitochondria are tiny power stations present inside our cells and are responsible for making the energy that powers everything that happens inside our bodies.
How is a primary mitochondrial disease diagnosed?
Primary mitochondrial disease is diagnosed by doctors after a series of tests that may include blood and urine tests, brain scan (MRI), muscle biopsy and, most importantly, genetic testing. It is not always possible to identify the genetic cause in every affected individual, and in these cases a clinical diagnosis of “probable mitochondrial disease” may be made.
How is a primary mitochondrial disease treated?
Currently, there are no cures for most mitochondrial diseases. This means that supportive treatments and medicines are extremely important. These include medicines for treating seizures (anticonvulsants), antibiotics for treating bacterial infections, medicine for managing pain, controlling fevers, treating diabetes and heart disease, and for administering general anaesthesia safely when an operation is needed.
Why did the list of drugs to be avoided need updating?
We saw that the existing list of medicines thought to be unsuitable (contraindicated) in patients with mitochondrial disease was very long and contained drugs that we felt could be useful in treating patients with mitochondrial disease. Therefore, we thought it was important that each medicine on the list was reviewed and updated with the latest clinical and scientific evidence.
What was the process by which the list was reviewed and updated?
Our group consisted of sixteen doctors, pharmacists and scientists and each was assigned a group of drugs to evaluate. These experts then spent 2 months researching the evidence for whether the medicine was harmful for mitochondrial disease patients for each of the drugs assigned to them. The group then met for a two day workshop to discuss the evidence for > 50 drugs and decide whether or not they could safely be used in mitochondrial disease. This process of evaluating evidence is known as a Delphi workshop, and is widely accepted as a valid scientific method.
What were the conclusions of the workshop?
After a thorough review of the evidence, we concluded that most drugs on the previous list could be used safely in people affected by primary mitochondrial disease. The drugs studied and considered safe to use are listed in TABLE 1. The drugs considered dangerous, or to be used with caution are listed in TABLE 2. The drug valproic acid (an antiepileptic drug also known as sodium valproate or Epilim) should not be given to patients with mutations in a gene called POLG and not used in any patient who could have a primary mitochondrial disease until POLG mutation is ruled out. Table 2 also lists drugs that need careful evaluation and situations in which doctors may want to change the way that these medicines are used or prescribed for patients affected by particular types of mitochondrial disease.
Why is this list not the same as other lists of drugs to be avoided in mitochondrial diseases?
This is a NEW UPDATED VERSION to replace all previous lists of medicines to be avoided in primary mitochondrial disease, based on the latest scientific and clinical evidence.
What should I do with the list?
It is very important that you consult your doctor whenever you are unwell. You may, however, wish to share the list of medicines considered safe to use and the list with points of attention with your doctor(s) and discuss with them what this means for you and your particular type of mitochondrial disease.
It is important to remember that side effects can occur with any medicine in any patient. This can affect anyone taking the medicine and may not be related to your mitochondrial disease. It is therefore essential that you take the advice of your doctor and read the information given with the medicine.
For the scientific publication, click here.
For more information on the International Mito Patients, click here.Back to top
For some children with Mitochondrial Disease, it will be appropriate to attend mainstream school, while others who have more complex needs will find the environment of a special school more suitable. Decisions about a child’s education should be made in collaboration with parents and other professionals involved, considering their views and ultimately the child’s needs. In either case, the class teacher and head teacher should be made aware of any physical problems (epilepsy, postural abnormalities, feeding or mobility problems) or learning difficulties the child has acquired as a result of Mitochondrial Disease.
Your child could receive Special Education Needs (SEN) support if they find it harder to learn than other children their age or have a condition which means their school or the way they are taught is not accessible to them. SEN Support is available at all levels of education, from nursery to further education. A child can still get SEN Support without a diagnosis. If SEN Support is not enough to meet the needs of your child, you can apply for an Education, Health and Care Plan (EHCP) assessment. An EHCP is a way of getting your child specific support at school. Legally, local authorities must provide the support in a child’s EHCP. Parents and carers can apply to the local authority for an EHCP needs assessment.
Parents will have input into the process of ECHP's and we may be asked to provide additional information on the patient’s medical condition and its implications for education. More information on the EHCP process can be found at www.gov.uk. In England and Wales it is now unlawful for any school to discriminate against disabled pupils. Parents have means of redress via the Special Educational Needs and Disability Tribunals and through admissions and exclusions panels. For more information view the Disability Rights Commission website where there is a section on education www.drc.org.uk.
Children with Mitochondrial Disease should have easy access to fluids and avoid excessive exercise. However, it is physically and socially important that children participate in school life and encouragement should be given for the child to do as much as they can without over-exerting themselves. Your specialist will be able to give you more details on what you might expect your child to be able to do and with your permission should be able to provide the school with a medical report outlining the child’s abilities.Back to top
Patients with Mitochondrial Disease have the same employment rights as any other employee, although it is likely that their employer will be less familiar with the particular problems encountered in this illness. Clearly individual circumstances differ, but your specialist should be able to advise your employer on your ‘fitness to work’. It may be that in response to illness your employer offers you an alternative job. Again, it may be advisable to discuss the suitability of such employment with your Mitochondrial Disease specialist and also with disability employment advisers (DEAs) via your local job centre.
Your employer may have to make adjustments if you are at a substantial disadvantage compared to people who don’t have a disability, because of a working arrangement, a physical feature of your workplace or not having extra equipment or help. You can find examples of reasonable adjustment here www.equalityhumanrights.com/en/multipage-guide/reasonable-adjustments-practice
For independent advice on discrimination issues, you could contact The Equality Advisory and Support Service (EASS) www.equalityadvisoryservice.com/app/home on 0808 800 0082. Another website that may be able to provide advice or information relevant to your particular employment circumstances is the Disability Rights Commission. You could also contact Acas | Making working life better for everyone in Britain on 0300 123 1100. Acas gives employees and employers free, impartial advice on workplace rights, rules and best practice. Alternatively, if your health prevents you from doing any suitable job with your employer, you should contact them with regards to the level of private health insurance or critical illness cover they may provide.
Choosing a career is very much up to the individual, but our general advice would be that heavy physical work in hot conditions should be avoided. Many patients with Mitochondrial Disease are likely to experience weakness as their disease progresses and this could severely limit their ability to perform heavy physical jobs. Dehydration and over-exertion can also exacerbate the lactic acidosis present in some patients. Light physical work is however possible for many Mitochondrial Patients. Other considerations include whether the job involves driving (see Driving) or requires physical adaptations to the workplace in order for you to perform it (e.g. MINICOM, seating, keyboard) or lighting and quietness for those who are prone to migraines, or have visual impairments. Employers should provide access to an Occupational Health advisor who can conduct a workplace assessment.
Disability Employment Advisers via the jobcentre can advise you on job seeking, training and new skills, and government schemes. They can also tell you about disability-friendly employers in your area. If you need support to attend an interview, such as an interpreter, or a taxi fare to get there or other assistance to help you get or stay in work, you might be able to apply for an Access to Work grant for this. For further information on Access to Work you can go to www.gov.uk/access-to-work. You can also find more information on help looking for work if you have a disability here www.moneyhelper.org.uk/en/family-and-care/illness-and-disability/help-to-find-work-if-youre-disabledBack to top
The cells in people with Mitochondrial Disease can have difficulty making enough energy. Energy in cells is made in the form of something called ATP. Cells within muscle require a lot of energy, and in someone with Mitochondrial disease, difficulty making enough energy (ATP) can mean that:
- the muscle can become tired sooner than normal,
- the muscle can make other compounds such as lactic acid in an attempt to keep up with energy demand. This can lead to pain and cramp in the muscles and patients often feel “like they have run a marathon” even after only moderate exercise.
The temptation can be to avoid exercise, and to limit activity, to avoid symptoms. We know that it is not helpful to avoid exercise and activity, and this can mean that otherwise healthy muscle becomes weaker and deconditioned.
Exercise and activity are recommended for two reasons:
- regular exercise and activity are important for general fitness and wellbeing. As well as exercising muscles and optimising muscle strength, it is important to keep the heart and circulation healthy,
- there is good evidence that inactivity will adversely affect your muscles, leading to deconditioning. Deconditioning means that muscles, hearts and circulation are not working as well as they could. This can increase the feeling of fatigue, and weakness but these things can be reversed by structured exercise and activity.
At the present time our advice is to exercise regularly at a level that feels comfortable, but without pushing yourself to the point that your muscles become painful or that you feel unwell. Please contact your Neurologist or Physiotherapist for more information.
At a glance physiotherapy guidelines for people with mitochondrial disease can be viewed here.Back to top
In general there are no activities that patients should avoid, but clearly a sensible approach is needed when choosing a holiday. For patients with severe weakness and fatigue, a hiking trip to the Himalayas is probably not a good idea. Having said that, we always encourage patients to stay as active as possible and are often amazed by what people can achieve.
Although there are no specific problems with flying patients should avoid becoming dehydrated and carefully consider their diabetes management on long-haul flights. Patients with Mitochondrial Disease need the same vaccinations as any other traveler and some of these can produce a mild fever or ‘flu-like' symptoms, which may be important to consider in children with Leigh disease. In this situation, it would be best to ask your specialist regarding vaccination. Similarly, some drugs used to prevent malaria may have undesirable side-effects particularly in children with epilepsy. Again, it would be best to discuss this with your specialist in clinic.
One sensible precaution in case you do become ill whilst abroad, is to carry a simple summary sheet with your diagnosis, which medications you take and contact details for your GP and specialist on it. We can provide you with this information in the clinic.
Patients also need to inform their travel insurance company of their diagnosis. Normally this will have no effect on the premium or the cover offered, but in some cases the company will contact your specialist for more information about the condition.Back to top
In the UK, getting insured when you have a pre-existing medical condition like mitochondrial disease can be challenging, but it is not impossible. The process and availability of insurance coverage may vary depending on the type and severity of the mitochondrial disease and the insurance provider's policies.
Health Insurance: If you have mitochondrial disease and are looking for private health insurance, it is important to disclose your medical condition fully and accurately during the application process. Insurance providers may exclude coverage for pre-existing conditions, including treatments, medications, and related complications, or they may charge higher premiums.
Travel Insurance: If you plan to travel, it's crucial to obtain travel insurance that covers your pre-existing medical condition. Many travel insurance policies may have restrictions on pre-existing conditions, so it's essential to compare different insurance providers and select one that offers suitable coverage for your specific needs.
Life Insurance: Life insurance may be available, but premiums could be higher due to the presence of a pre-existing condition. It's essential to shop around, compare quotes, and discuss your medical history openly with insurance providers to find the best coverage options.
To determine the specific health insurance options and coverage available to you as an individual with mitochondrial disease, it is recommended to reach out to insurance providers directly or identify an advocate who can help you navigate insurance options and ensure you have the coverage you need. We would also always recommend that you speak to your specialist Mito team who may be able to recommend specific companies who cover patients with mitochondrial disease.
You may want to consider seeking assistance from an insurance broker who specializes in covering individuals with pre-existing medical conditions. They can help you navigate the insurance market and find suitable coverage options. In addition, it can be useful to reach out to patient support groups or organisations that focus on mitochondrial disease. They may have information or resources about insurance companies that have provided coverage for people with mitochondrial diseases.
If you are finding difficult to get insurance cover due to your medical condition you could contact the Find a Broker service from the British Insurance Brokers’ Association’s (BIBA’s). You can use this service to find specialist insurers who can offer specific types of cover based on factors such as age and medical condition.
You can find the BIBA’s ‘Find a Broker’ service by phoning their helpline on 0370 950 1790 or by going to their website at www.biba.org.uk.
You can find out more about problems getting insurance here Problems getting insurance - Citizens Advice
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There is no specific risk in having a general anaesthetic. However, it is important that the anaesthetist knows that you have Mitochondrial Disease as sometimes patients require additional assessments of breathing, swallowing or cardiac function. The anaesthetist can then make a better judgement of any potential risk and advise you accordingly and full care guidelines for professionals can be found here.
We also recommend that you notify your specialist as soon as possible before any planned operation so that any potential risks can be identified. In some cases it may be possible to understand more about your Mitochondrial Disease by looking at any tissue removed at operation. To do this your specialist would need to obtain your consent and speak to your surgeon well before the surgery.Back to top
Patients with Mitochondrial Disease can experience 'psychological' or 'cognitive' difficulties. Common psychological difficulties include low mood or anxiety. These changes may be first noticed by partners or other family members, for example a person becomes more withdrawn, irritable, seems preoccupied or there is a change in personality. This link gives more information about these types of difficulties http://www.nhs.uk/Conditions/stress-anxiety-depression/Pages/low-mood-stress-anxiety.aspx.
'Cognitive functions' refer to processes such as memory, learning, information processing and attention or concentration. Patients with Mitochondrial Disease can experience difficulties in some of these areas. It may be useful to have a neuropsychology assessment particularly if these types of difficulties are impacting on work or education.
It's worth remembering that we can all experience psychological or cognitive difficulties in our lives and that these can arise from many different causes not just Mitochondrial Disease.
If you, or someone you know with Mitochondrial Disease, are/is experiencing any of the above difficulties then it may be helpful to discuss this with your GP or neurologist.Back to top
Mitochondria are found in every tissue in the body and any of these can potentially be affected in Mitochondrial Disease. By no means will all patients develop complications of their disease and the fact that we sometimes ask for tests does not mean that we think that you have a particular problem. Nevertheless, we feel it is prudent to look for complications that we know can happen, because a lot of them can be effectively treated if caught early enough.
We tend to perform a routine screen of blood tests every time you come to clinic. These are for a wide variety of problems, for example a low blood count, liver or kidney problems. One particular thing that we look carefully for is the development of diabetes as this is a common problem in our patients. We can sometimes detect this on a blood test before any symptoms are apparent, and as with most things it is easier to treat if caught early.
We know that the heart can be involved in Mitochondrial Disease, particularly in the MELAS mutation. We can pick up changes in the heart using simple tests before they cause symptoms. The main one that we use is an electrocardiogram (ECG). This involves placing sticky electrodes on the chest wall and recording the electrical activity of the heart. The procedure is painless and usually takes only a few minutes. In patients with MELAS we would want to do this once a year, however in other mutations we feel that every other year may be enough.
In patients with abnormalities on the ECG, or with other symptoms such as chest pain, we would normally also perform an echocardiogram (“ECHO”). This involves putting cold jelly on the chest and using an ultrasound probe to take pictures of the heart. As with an ECG it is painless, but it usually takes longer (about half an hour).
The point of both these tests is that we can often pick up treatable problems before they cause symptoms.
EEG : You might be asked to attend for an electroencephalogram (EEG). This measures your brain’s electrical activity. To do this we stick twenty small electrodes on to your scalp. This is painless and the adhesive gel washes out completely. All you then have to do is to sit in a comfortable chair and relax. We might ask you to overbreathe for a couple of minutes which can make you feel a bit light headed and we might also flash a strobe light in the room. Both of these make the test more accurate but have no long-term effects. The reason that we record the EEG is that it gives us information on how the brain is working. For example, some patients have seizures and the EEG can tell us which parts of the brain are involved. Similarly it can give us information on how well the brain is able to use food energy to make ATP.
Nerve conduction studies: Some patients complain of tingling in their hands and feet. If this is the case we may ask you to have Nerve conduction studies, which can tell us if the nerves supplying these areas are healthy. To do these we give small electric shocks to the nerves and measure the response. We might also put a small needle in different muscles to measure the activity. This all sounds a bit brutal, and it does hurt a bit. However, the doctors doing the tests are experts at making things as painless as possible and we can gain valuable information from them. For example, tingling hands can be caused by a trapped nerve in the wrist and a small operation can cure this completely. Unfortunately, if the nerves are damaged as part of the mitochondrial disease it is not possible to reverse this, but nevertheless there are effective treatments we can use to reduce the symptoms.
The muscles that move the chest wall and allow us to breathe can be affected in mitochondrial disease. This can cause breathlessness, but sometimes the only symptoms can be headaches in the morning or excessive sleepiness. One of the best ways to check for respiratory muscle weakness is with a simple breathing test that we can do in the clinic. We will ask you to blow as hard and as long as you can into a tube and from this we can measure your lung capacity and strength. The test is quick and has no long term effects. Sometimes we need more accurate information and you might be asked to attend the respiratory function laboratory for more detailed tests. Similarly, if we suspect that your breathing is affected during sleep, we might admit you overnight on to the ward so that we can put a small sensor on to your finger tip and measure the oxygen level in your blood over the whole night.
The eyes can be affected in several ways in mitochondrial diseases and we regularly perform eye tests in the clinic. Firstly the muscles around the eyes can be involved; this causes drooping of the eyelids (ptosis) and a reduced ability to move the eyes around (ophthalmoplegia). Secondly, the eyes themselves can be affected leading to blurred vision. It is often possible to improve patients’ vision with for example special glasses or minor surgery to lift the eyelids.
Many patients develop hearing problems as part of their illness. Usually this can be helped with hearing aids. We often ask patients to attend the audiology department for detailed hearing tests and to be fitted with suitable hearing aids.
Mitochondrial disease can affect the muscles of the tongue and throat leading to problems with speech and swallowing. We often ask our dieticians and speech and language therapists for their advice on measures that can be used to improve matters. Sometimes this can be achieved with a change in diet or the use of dietary supplements. When swallowing becomes more problematic we may request a test of swallowing called a videofluoroscopy which provides a moving image of the swallowing process. Some patients develop such severe problems that they are no longer able to swallow safely without food going the wrong way into the lungs and in these patients we often ask the surgeons to pass a fine tube directly through the abdominal wall into the stomach. This is called a PEG tube and allows liquid food to be dripped slowly into the stomach over several hours. Where assessed safe to do so patients may still eat small amounts of food by mouth, but this alone would be insufficient to meet the body’s nutrient and energy demands. PEG feeding may also be used to supplement an inadequate diet due to severe loss of appetite or where calorie intake is insufficient to sustain appropriate growth.Back to top