Parents of boys, 4, living with one of rarest conditions in the world hope for gene therapy cure
Families from our region are in a race against time to try and find a cure for one of the rarest genetic conditions in the world.
There are only 3 children in the UK living with CRELD1 and there is currently no cure.
The condition causes a huge range of symptoms from seizures, to development delay and heart issues.
It was only discovered thanks to the tenacity and desperation of one Hampshire family who reached out via Facebook to try and find answers.
What they discovered is now helping families around the world.
It has many symptoms, but the seizures are the most debilitating, and some children can have up to 200 of them a day.
But it also causes heart issues, developmental and cognitive delay, hearing loss, immature eye development, respiratory issues and immune dysfunction.
Adam and Jess Clatworthy's daughter Lola had her first seizure when she was three months old.
The family spent the next two years in and out of hospital asking questions that no-one could answer.
Multiple tests, including ECGs, EEGs, MRIs and genetic testing, both on the NHS and privately, didn't offer any new information either.
Adam reached out to support groups posting a video of Lola having a seizure hoping someone maybe able to help.
By pure chance, a mum in Canada responded to his Facebook post because she recognised the seizure symptoms in her own son. Her son had a very rare condition called CRELD1.
Jess Clatworthy
Without a diagnosis, and with no indication that Lola's condition was genetic, Adam and Jess had a third child, this time a little boy called Alfie.
Four days after Alfie was born, Lola passed away in her sleep from SUDEP, a tragic outcome for many children diagnosed with severe epilepsy.
Whilst grieving for Lola, they also realised that Alfie, although stronger than his sister, also had the same symptoms. He had his first seizure at three months old.
Adam Clatworthy
But this time Adam and Jess had more knowledge, and they contacted the family in Canada who had responded to the video of Lola
Jess and Adam have set up their own charity - Creld 1 Warriors - to explore repurposing drugs using AI and find a gene therapy.
Through their desperate search for answers, the Clatworthy family were brought together with the Powell family.
Sophie and Oli Powell's son Angus was diagnosed with CRELD1 at 3 years old, but recently the seizures have become very severe - and earlier this month he was rushed to hospital
Despite trying all the medications available - doctors decided the only option was to put Angus into an induced coma.
Oli and Sophie, from Chaddleworth, Berkshire, say that their son's development is already significantly delayed and the episodes can take months to recover from.
Sophie Powell
Though the family are uncertain of what the future holds, uniting with the Clatworthy family has given them support and reassurance.
Oli took on the epic challenge of running 7 marathons in 7 days.
Oli who served as an Army Officer in the military, raised more than £50,000 towards much-needed research into the condition.
Working together on the research the families have already made achievements.
Sophie and Oli were able to screen their unborn baby after Jess and Adam ensured Creld 1 is now a genetic condition that's screened for in the UK.
Meanwhile the CRELD1 paper means that when people have genetic testing, CRELD1 will now be one of the genes that is tested, thanks to the work by the charity
Both families want to encourage others to share their story.
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Wales Online
35 minutes ago
- Wales Online
Your legal rights explained if you aren't offered face-to-face GP appointment
Your legal rights explained if you aren't offered face-to-face GP appointment The GP Patient Survey, released by NHS England, has highlighted the difficulties patients experience when wanting an in-person GP appointment. What are my legal rights to an in-person GP appointment? (Image: Getty ) A medical negligence solicitor has weighed in on common concerns Brits have about consulting their GP, shedding light on patients' rights. This comes as the GP Patient Survey , released by NHS, highlighted the difficulties patients face when seeking in-person appointments with their GP. According to the survey, one in three participants found contacting their GP by phone to be fairly or very difficult. Over a quarter of patients had their GP appointment conducted remotely, and over two-fifths rarely get to speak to or see their preferred healthcare professional when they ask. Sophie McGarry, a solicitor at Patient Claim Line , has clarified patients' legal rights to in-person appointments. She has also provided guidance on what to do if you suspect you've been misdiagnosed during a phone or video GP appointment, reports the Mirror. Are patients legally entitled to an in-person appointment with their GP? As of now, GP patients are entitled to be offered face-to-face appointments if that is their preference. NHS GP says: "According to new NHS guidance, practices in England must offer face-to-face appointments if requested. GPs who fail to make the necessary arrangements for patients to make an appointment without having to spend hours on the phone or who are not available for face-to-face appointments are, in the strictest terms, breaking the law." NHS England has issued guidelines to GP practices, stating that they must ensure the availability of face-to-face appointments. Practices should respect patient preferences for in-person care unless there are valid clinical reasons not to, such as the patient exhibiting COVID symptoms. GP practices must ensure they are offering face-to-face appointments (Image: Getty ) Article continues below In England, NHS guidelines stipulate that GP practices should offer face-to-face appointments upon request. However, there is no strict legal entitlement to an in-person visit if the GP deems a remote consultation appropriate. Nevertheless, patients do have the right to see a healthcare professional within 48 hours if necessary. If you feel a face-to-face appointment is required, don't hesitate to request one and explain your reasons. If your request is denied, you can escalate the matter to the practice manager or lodge a formal complaint. Find out more about the choices available to you in the NHS on its website. NHS England says: "While the expanded use of video, online and telephone consultations can be maintained where patients find benefit from them, this should be done alongside a clear offer of appointments in person." You can read more about the choices available to you in the NHS on its website. What can be done if an in-person appointment isn't offered? In a letter dated 13 May 2021, NHS England advised GP Practices to provide clear advice on their websites about how to contact the GP and request assistance, and how to access face-to-face or walk-in services. Ms McGarry suggests checking your practice's website for information on how to access face-to-face or walk-in services. If this information is not readily available on the website, you could ask the practice to provide it. She also suggested that, should you meet with resistance from the practice, it might be useful to refer them to NHS England's directive, which mandates that such information be accessible on their website at the very least. It is important to request an in-person meeting at your GP Practice for an assessment, examination, or any tests, making clear the reasons you believe a face-to-face consultation is imperative. You should communicate your preference for an in-person appointment, citing the NHS England guidelines that state all GP Practices must offer face-to-face appointments, and your preference for such should be honoured. Information on the options available to NHS patients can be found in the NHS Choice Framework. She advised: "If the GPs or receptionists continue to refuse to examine you in person, you could escalate the matter to the Practice Manager and ask them to explain why your wish and request for a face-to-face examination are being refused." Before booking an appointment, your GP surgery may ask what you need help with (Image: Getty ) A statement on the website reads: "Your practice must make every effort to meet your preferences to see the doctor, nurse or other healthcare professional you've asked for when you need an appointment, although there are some occasions when this might not be possible." It adds: "If you're referred for consultant-led treatment, or to a mental health professional, you can decide which provider you would like to receive care from as an outpatient and choose the clinical team who will be in charge of your care within that provider organisation." How can you book, change or cancel an appointment? When you feel the need for an appointment with your GP surgery, reach out to them: using a form on your GP surgery's website (many surgeries also have a form you can access if you use the NHS App or log into your account on the NHS website) by phone in person, by going into the surgery and talking to the receptionist Your GP surgery might inquire about the nature of your health issue before arranging an appointment. This helps them determine the urgency of your situation and enables them to select the most appropriate healthcare professional for your needs. Are in-person appointments 'better'? Ms McGarry emphasises the importance of face-to-face consultations, saying: "Telephone and remote assessments have their place for certain minor issues, but overall, I believe in-person appointments are safer, and you are less likely to be misdiagnosed than if you had a remote assessment." She explains the limitations of phone consultations: "If a GP is assessing someone by telephone, there is no opportunity for them to conduct any tests or examinations. If a GP is assessing someone in person, even if they just want to perform the examinations as a precautionary measure, this is more likely to identify an abnormality than a telephone appointment." Ms McGarry also points out the benefits of physical appointments: "An in-person appointment also lends itself to any incidental findings which would not be spotted during a telephone assessment. During a remote assessment, a GP is completely reliant on asking the right questions and the patient providing the right answers." Clear advice should be provided and maintained on all practice websites She adds that discussing sensitive matters can be easier in person: "People are also discussing difficult and sensitive personal issues. It may be easier for them to open up to a GP in an in-person appointment, where they are receiving face-to-face, hands-on, human care, which is much more personable, rather than speaking to a voice asking questions on the phone." Finally, she touches on the emotional aspect of healthcare: "Remote appointments can leave patients feeling like there is a disconnect between them and their GP, and like there is less 'care'. In stressful and emotional situations, patients will find comfort in the GP's physical presence and human touch. "During an in-person appointment, patients are in the room with their GP, solely focusing on the consultation and discussing their symptoms. Telephone GP appointments can catch patients whilst they are at work, driving, or doing the shopping, so the patient may not be able to give the appointment their full, undivided attention." What are the potential pitfalls of remote assessments? NHS England has highlighted several potential pitfalls of remote assessments without proper training, support, and process development, which could lead to staff struggling to deliver optimal patient care. These issues include: delayed or missed diagnoses over or under investigation of patients increasing the burden on clinicians to make judgements remotely reduction in the therapeutic relationship between patients and clinicians increase in the transactional aspect of care over personalisation, where patients experience limited interactions remotely or feel they are unable to see their doctor face-to-face missed opportunities to pick up on subtle cues during a face-to-face consultation digital exclusion of certain patient groups increasing complexity for reception staff when booking in patients to different consultation types Barriers to technology or simple blockers, such as a poor phone signal, can become problematic for patients being asked to consult remotely Are there any people who are more difficult to assess remotely? The solicitor went on to highlight the challenges of remote medical assessments, particularly for vulnerable groups such as children, the elderly, and those with mental health issues or communication difficulties. She said: "Generally speaking, children, the elderly and those with mental health issues or communication difficulties, can be more difficult to assess remotely. Children can have difficulties expressing themselves and their symptoms so this may require more careful assessment. "The elderly may be hard of hearing and struggle to hear on the phone, and therefore may be less likely or able to give a full account of their symptoms. They may also be less technologically skilled and be unable to share photographs to evidence issues. I believe older people value the face-to-face and human touch more. GPs may be more likely to find incidental findings, conditions and symptoms in older people during an in-person appointment. "Some people do not feel comfortable speaking on the phone and may find it difficult to express themselves or may benefit from an in-person appointment to feel able to open up about their mental health symptoms. However, it's important to remember that every demographic is vulnerable to health issues, which can be difficult to assess remotely." Additionally, patients have the right to choose their preferred hospital or service if referred by a GP for a physical or mental health condition, including some private hospitals that provide services to the NHS without incurring additional costs. You also have the option to select a clinical team led by a consultant or specified healthcare professional, provided that they offer the treatment you need. Did you know? If a GP needs to refer you for a physical or mental health condition, in most cases, you have the legal right to choose the hospital or service you'd like to go to. This will include many private hospitals if they provide services to the NHS and it does not cost the NHS any more than a referral to a standard NHS hospital. You can also choose a clinical team led by a consultant or named healthcare professional, as long as that team provides the treatment you require. Find out more about choosing a hospital or consultant and choosing a mental health service. You can book your appointment via the NHS e-Referral service. It can be done while you're at the GP surgery, or online, using the shortlist of hospitals or services provided in your appointment request letter. The shortlist is selected by your GP, so make sure you tell them about your preferences during the appointment. You have the legal right to ask for your appointment to be moved to a different provider if you're likely to wait longer than the maximum waiting time specified for your treatment. The hospital or integrated care board (ICB) will have to investigate and offer you a range of suitable alternative hospitals or clinics that would be able to see you sooner. Read the guide to waiting times for more information. Are conditions trickier to diagnose when appointments are remote? Ms McGarry says any condition that requires visual assessment or physical touch is more difficult to assess and diagnose correctly when an appointment is carried out remotely. This can include infections, chest pain, and abdominal pain. It is important for a patient to be able to show the GP exactly where the pain is and for the GP to palpate the area to establish exactly where the pain is. Assessment of a lump or changes to the skin The solicitor says it is important to visualise and feel the lump to ascertain where it is located, its size, whether it is hard or soft, and whether it is painful when touched. Then, the solicitor says it is important to compare the visualisation and feel of the affected side of the body with the unaffected side of the body. All guidance for early detection of cancers revolves around knowing your body, feeling your body and noticing changes, not to look at photographs. The GPs need to see and feel a lump to decipher whether or not it is suspicious and requires further investigation / onward referral, and on what basis that referral should be made, either routine or an urgent two-week suspected cancer pathway. Visual or physical internal assessments Ms McGarry said: "An example is a digital rectal examination to assist in diagnosing prostate cancer, or vaginal examinations with a speculum to visualise cervical abnormalities, assisting in the diagnosis of cervical cancer. GPs need to see and feel the prostate or cervix to decipher whether or not there are suspicious features which require further investigation / onward referral. They need to consider on what basis the referral should be made, either routine or an urgent two week suspected cancer pathway." Do any conditions require intimate examinations? NHS England says: "It is not advisable to encourage patients to send clinical images of intimate regions or reveal or self-examine intimate areas during a remote consultation. The GMC is clear that all patients should be offered a chaperone. Patients who require an intimate examination should, therefore, be encouraged to attend for a face-to-face assessment." Limb ischaemia requires assessment of peripheral pulses to determine whether they are weak or absent. Limb ischemia refers to a reduced blood supply to the limbs, potentially affecting the arms or legs. Other conditions that require intimate examination can include: Any condition requiring the assessment of temperature or blood pressure. Visual assessment of eyes, ears or mouth. Assessment of any orifice or skin abnormalities. What if you feel you've been misdiagnosed over the phone or in a video consultation? Ms McGarry adds: "If you believe that you have been misdiagnosed over the telephone or in a video consultation at the time of your assessment, you can ask your GP to arrange an in-person appointment for further assessment, examination or testing and explain why you feel a face-to-face appointment is necessary. Article continues below "If that particular GP will not arrange an in-person appointment with you, you can call the surgery to make a further appointment and request an in-person appointment for a second opinion and further assessment, examination or testing and explain why you feel a face-to-face appointment is necessary. "For example, you could advise that you are very concerned that the lump you have located is suspicious and you feel a physical appointment is necessary so that the GP can see and feel a lump to decipher whether or not it is suspicious and requires further investigation / onward referral and on what basis that referral should be made. If the GPs continue to refuse to examine you in person, you could ask for the matter to be escalated to the Practice Manager." If your condition is urgent or deteriorating after a telephone or video consultation, you should take appropriate action by attending a walk-in centre, urgent care centre or A&E, depending on the severity of your condition and your level of concern.
North Wales Chronicle
36 minutes ago
- North Wales Chronicle
British women running on empty, new research reveals
A national study of 2,006 UK adults by Optibac to mark the launch of their new Optibac Women's Wellbeing supplement has revealed the full scale of the pressures facing women across the UK. The number of men and women in work is closer than ever, with a majority of men (73%) and women (71%) in paid work. Yet, it's the unpaid load that paints a different picture. The majority of women work full time, yet 14% still spend up to 20 hours per week on domestic tasks and household responsibilities such as cooking, cleaning, shopping and admin versus only 9% of men. Nearly of of the women surveyed said they covered the bulk of 'invisible labour' (Image: Credit MI / Optibac) Nearly half (49%) of British women say the bulk of 'invisible labour' - things like planning meals, managing the family schedule (e.g. children's activities and clubs, school admin, family trips) and remembering birthdays - falls to them all of the time. Just 1 in 3 (36%) men say the same. With this cumulative mental and physical load, it's perhaps no surprise that nearly a third (32%) of women admit to feeling constantly stressed or on the verge of not coping. Despite doing more, women are sleeping less, with on average British women getting just six hours of sleep per night (29%), compared to the average man who averages 7 hours of sleep (30%). Worryingly, the NHS advises women to get at least 7 hours' sleep per night, yet the data shows on average, women are losing a full night's sleep per week. Data uncovers sleep disruptors for British men and women Sleep habits British Women British Men Experiencing fatigue and tiredness 59% 44% Frequent wakings, difficulty falling asleep and waking too early 50% 35% Hormonal symptoms like night sweats and insomnia 29% 10% The research also found women are shouldering a higher burden of health concerns, with more than half (52%) reporting experiencing anxiety, while two in five (41%) struggle with brain fog and difficulty concentrating. Digestive issues, including bloating, irregularity and IBS, are reported by 29%, with 22% citing skin issues and breakouts and 1 in 5 (21%) reporting hormonal imbalances. Despite this, women are more likely to dismiss their own health concerns, 69% say they've downplayed symptoms due to feeling too busy, compared to just 60% of men. And worryingly, almost half (49%) of women believe men are more likely to be taken seriously when raising a health issue, yet 69% of men don't believe that's true. Supermodel, TV star and Women's Wellbeing advocate, Jodie Kidd said: 'These statistics help scratch the surface of what it's really like to be a woman today with so many things to juggle. "As a mum, fiancée, daughter, sister, carer, business owner and more - there just aren't enough hours in the day to do it all. 'And often, it's those invisible tasks - the school admin, the planning, the taking care of everyone around you - that are the hardest work of all. It's another layer of mental load.' The Women's Wellbeing report further reveals that more than half (55%) of women say they feel guilty when they do take time for themselves, while nearly 2 in 5 (39%) men say they 'never' feel guilty. With a combination of work, home and family, and societal pressures, it's perhaps no surprise that more than half (58%) of British women fantasise about quitting or pausing work and family responsibilities due to burnout compared to 45% of men. Jodie continues: 'It feels like an important time to be talking about the hidden toll on women's health and the findings of Optibac's report, after all, we're only getting busier.' 'And this is why I'm excited about this new supplement Women's Wellbeing, and the difference it can make to women's lives.' Kate Hennessy, Science & Innovation at Optibac, said: 'Our research reveals a stark reality and while it's fantastic to see women winning in the workplace, in 2025 they are under immense pressure, often expected to juggle careers, family, and home life while making it all look effortless.' Recommended reading: The 9 symptoms that could mean you are suffering from Vitamin D deficiency Struggling to get to sleep? These 10 unusual methods could maybe work for you Are you suffering from Burnout? Check out these 5 'tell-tale' signs 'As a result, many are running on empty, with little time or energy to care for themselves.' 'That's why we developed Women's Wellbeing - one supplement to support energy, mind, immunity, skin, hormones, and the gut microbiome. "It's a multitasking combination of friendly bacteria plus vitamins for the stresses of daily life.'
Daily Record
an hour ago
- Daily Record
What your rights are if you aren't given in-person doctor appointment
GP practices provide appointments with various health professionals, which can be in-person, via phone, or online A medical negligence expert has addressed some common questions that many people in the UK have regarding visits to their GP, including a clear explanation of their rights. This advice comes in light of the GP Patient Survey released by NHS, which has shed light on the challenges patients face when trying to secure an in-person appointment with their GP. The survey results revealed that one in three participants (34.7%) found it somewhat or very challenging to reach their GP by phone. Additionally, over a quarter (27.7%) of patients had their appointments conducted remotely. More than two in five individuals (42.5%) reported that they never or almost never get to consult with their preferred healthcare provider when they request an appointment. In response to the survey results, Sophie McGarry, a solicitor at Patient Claim Line, has outlined your legal rights regarding in-person GP appointments. She has also provided guidance on what steps to take if you believe you have been misdiagnosed during a telephone or video consultation with your GP. Do patients have the legal right to an in-person GP appointment? GP patients can now request in-person appointments if that's what they want. NHS GP says: "According to new NHS guidance, practices in England must offer face-to-face appointments if requested. GPs who fail to make the necessary arrangements for patients to make an appointment without having to spend hours on the phone or who are not available for face-to-face appointments are, in the strictest terms, breaking the law." NHS England has provided guidance to practices stating that GP offices need to make sure they offer face-to-face appointments, and they should honour patients' wishes for in-person care unless there are valid clinical reasons against it, such as if the patient shows COVID symptoms. In England, NHS guidelines say that GP practices should provide face-to-face appointments if you ask for one, but there's no strict legal right to an in-person visit if the GP thinks a remote consultation is suitable. That said, you do have the right to see a healthcare professional within 48 hours if it's necessary. If you believe you need a face-to-face appointment, feel free to ask for it and share your reasons. If they turn down your request, you can take it up with the practice manager or file a formal complaint. NHS England says: "While the expanded use of video, online and telephone consultations can be maintained where patients find benefit from them, this should be done alongside a clear offer of appointments in person." You can read more about the choices available to you in the NHS on its website. What to do if an in-person appointment isn't offered? In a letter to GP Practices, dated May 13, 2021, NHS England states, at a minimum, that clear advice should be provided and maintained on all practice websites regarding: How to contact the GP and ask for help. How face-to-face or walk-in services can be accessed. Ms McGarry says, firstly, you could check your practice's website to see if there is any information about how to access face-to-face or walk-in services. If you are unable to locate this on the practice's website, you could ask the practice to provide you with this information. She also says that if you encounter resistance from the practice, you could refer them to NHS England's letter, which states that this information should be available on its website at a minimum. Ask your GP Practice to arrange an in-person appointment for an assessment, examination, or testing and explain why you feel a face-to-face appointment is necessary. Explain that it is your preference to have a face-to-face appointment, and you can quote from the NHS England guidance that GP Practices must all ensure they are offering face-to-face appointments, and practices should respect preferences for face-to-face care. She added: "If the GPs or receptionists continue to refuse to examine you in person, you could escalate the matter to the Practice Manager and ask them to explain why your wish and request for a face-to-face examination are being refused." You can view what choices are currently available to NHS patients in the NHS Choice Framework. How to book, change or cancel an appointment If you think you need an appointment at your GP surgery, you can contact them: using a form on your GP surgery's website (many surgeries also have a form you can access if you use the NHS App or log into your account on the NHS website) by phone in person, by going into the surgery and talking to the receptionist Before booking an appointment, your GP surgery may ask what you need help with. This will help them decide how soon you need to be seen and help them choose the most suitable doctor, nurse or health professional to help you. Are in-person appointments 'better'? Ms McGarry says: "Telephone and remote assessments have their place for certain minor issues, but overall, I believe in-person appointments are safer, and you are less likely to be misdiagnosed than if you had a remote assessment. "If a GP is assessing someone by telephone, there is no opportunity for them to conduct any tests or examinations. If a GP is assessing someone in person, even if they just want to perform the examinations as a precautionary measure, this is more likely to identify an abnormality than a telephone appointment. "An in-person appointment also lends itself to any incidental findings which would not be spotted during a telephone assessment. During a remote assessment, a GP is completely reliant on asking the right questions and the patient providing the right answers." She continued: "People are also discussing difficult and sensitive personal issues. It may be easier for them to open up to a GP in an in-person appointment, where they are receiving face-to-face, hands-on, human care, which is much more personable, rather than speaking to a voice asking questions on the phone. "Remote appointments can leave patients feeling like there is a disconnect between them and their GP, and like there is less 'care'. In stressful and emotional situations, patients will find comfort in the GP's physical presence and human touch. "During an in-person appointment, patients are in the room with their GP, solely focusing on the consultation and discussing their symptoms. Telephone GP appointments can catch patients whilst they are at work, driving, or doing the shopping, so the patient may not be able to give the appointment their full, undivided attention." What are the potential pitfalls of remote assessments? As outlined by NHS England, without adequate training, support, and process development, staff may struggle to optimise patient care through remote means. In these circumstances, remote consulting could result in: delayed or missed diagnoses over or under investigation of patients increasing the burden on clinicians to make judgements remotely reduction in the therapeutic relationship between patients and clinicians increase in the transactional aspect of care over personalisation, where patients experience limited interactions remotely or feel they are unable to see their doctor face-to-face missed opportunities to pick up on subtle cues during a face-to-face consultation digital exclusion of certain patient groups increasing complexity for reception staff when booking in patients to different consultation types Barriers to technology or simple blockers, such as a poor phone signal, can become problematic for patients being asked to consult remotely Are there any people who are more difficult to assess remotely? The solicitor said: "Generally speaking, children, the elderly and those with mental health issues or communication difficulties, can be more difficult to assess remotely. Children can have difficulties expressing themselves and their symptoms so this may require more careful assessment. "The elderly may be hard of hearing and struggle to hear on the phone, and therefore may be less likely or able to give a full account of their symptoms. They may also be less technologically skilled and be unable to share photographs to evidence issues. "I believe older people value the face-to-face and human touch more. GPs may be more likely to find incidental findings, conditions and symptoms in older people during an in-person appointment. "Some people do not feel comfortable speaking on the phone and may find it difficult to express themselves or may benefit from an in-person appointment to feel able to open up about their mental health symptoms. However, it's important to remember that every demographic is vulnerable to health issues, which can be difficult to assess remotely." Did you know? If a GP needs to refer you for a physical or mental health condition, in most cases, you have the legal right to choose the hospital or service you'd like to go to. This will include many private hospitals if they provide services to the NHS and it does not cost the NHS any more than a referral to a standard NHS hospital. You can also choose a clinical team led by a consultant or named healthcare professional, as long as that team provides the treatment you require. Find out more about choosing a hospital or consultant and choosing a mental health service. You can book your appointment via the NHS e-Referral service. It can be done while you're at the GP surgery, or online, using the shortlist of hospitals or services provided in your appointment request letter. The shortlist is selected by your GP, so make sure you tell them about your preferences during the appointment. You have the legal right to ask for your appointment to be moved to a different provider if you're likely to wait longer than the maximum waiting time specified for your treatment. The hospital or integrated care board (ICB) will have to investigate and offer you a range of suitable alternative hospitals or clinics that would be able to see you sooner. Read the guide to waiting times for more information. Are conditions trickier to diagnose when appointments are remote? Ms McGarry says any condition that requires visual assessment or physical touch is more difficult to assess and diagnose correctly when an appointment is carried out remotely. This can include infections, chest pain, and abdominal pain. It is important for a patient to be able to show the GP exactly where the pain is and for the GP to palpate the area to establish exactly where the pain is. Assessment of a lump or changes to the skin The solicitor says it is important to visualise and feel the lump to ascertain where it is located, its size, whether it is hard or soft, and whether it is painful when touched. Then, the solicitor says it is important to compare the visualisation and feel of the affected side of the body with the unaffected side of the body. All guidance for early detection of cancers revolves around knowing your body, feeling your body and noticing changes, not to look at photographs. The GPs need to see and feel a lump to decipher whether or not it is suspicious and requires further investigation / onward referral, and on what basis that referral should be made, either routine or an urgent two-week suspected cancer pathway. Visual or physical internal assessments Ms McGarry said: "An example is a digital rectal examination to assist in diagnosing prostate cancer, or vaginal examinations with a speculum to visualise cervical abnormalities, assisting in the diagnosis of cervical cancer. GPs need to see and feel the prostate or cervix to decipher whether or not there are suspicious features which require further investigation / onward referral. They need to consider on what basis the referral should be made, either routine or an urgent two week suspected cancer pathway." Do any conditions require intimate examinations? NHS England says: "It is not advisable to encourage patients to send clinical images of intimate regions or reveal or self-examine intimate areas during a remote consultation. The GMC is clear that all patients should be offered a chaperone. Patients who require an intimate examination should, therefore, be encouraged to attend for a face-to-face assessment." Limb ischaemia requires assessment of peripheral pulses to determine whether they are weak or absent. Limb ischemia refers to a reduced blood supply to the limbs, potentially affecting the arms or legs. Other conditions that require intimate examination can include: Any condition requiring the assessment of temperature or blood pressure. Visual assessment of eyes, ears or mouth. Assessment of any orifice or skin abnormalities. What if you feel you've been misdiagnosed over the phone or in a video consultation? Ms McGarry adds: "If you believe that you have been misdiagnosed over the telephone or in a video consultation at the time of your assessment, you can ask your GP to arrange an in-person appointment for further assessment, examination or testing and explain why you feel a face-to-face appointment is necessary. "If that particular GP will not arrange an in-person appointment with you, you can call the surgery to make a further appointment and request an in-person appointment for a second opinion and further assessment, examination or testing and explain why you feel a face-to-face appointment is necessary. "For example, you could advise that you are very concerned that the lump you have located is suspicious and you feel a physical appointment is necessary so that the GP can see and feel a lump to decipher whether or not it is suspicious and requires further investigation / onward referral and on what basis that referral should be made. If the GPs continue to refuse to examine you in person, you could ask for the matter to be escalated to the Practice Manager." If your condition is urgent or deteriorating after a telephone or video consultation, you should take appropriate action by attending a walk-in centre, urgent care centre or A&E, depending on the severity of your condition and your level of concern.
