 Rare Revolution is delighted to welcome guest blogger Jodie Harris who is proud to be raising awareness for PTEN What is PTEN? A bunch of meaningless letters to most people but for me and many others it is a different way of life that no one could ever anticipate. On the 17th of July 2019, after finding a lump in my breast that felt a bit ‘odd’, I was diagnosed with stage 2 grade 3 breast cancer at the age of 24. This has led my life in a completely different direction compared to how I thought that I would be spending my twenties. The doctors class it as being caught early but because PTEN is the cancer suppressor gene, my tumour is growing fast and has already spread to one lymph node under my arm. So what now? I’ve already been through my IVF injections and an egg collection as chemotherapy may affect my fertility. To follow is 6 rounds of chemo, a double mastectomy, through choice, radiotherapy and potentially 5 years of hormone therapy. That sounds like a lot for someone my age to deal with but it is the stark truth for anyone with this syndrome. You can sit and tell yourself that it will not happen to you but if and when it does you have to quickly learn how to adapt. I’m not going to lie - it isn’t easy! There are definitely highs and lows but it’s all about how you deal with them. Let’s get the negatives out of the way first of all. After my first session of chemo I suffered two seizures. Completely unrelated to the chemo treatment I found out that I have a cavernoma in my brain which is an unusual collection of blood vessels which can haemorrhage. This is what happened in my case and the bleed then caused the seizures. This leads to another negative - I’m not allowed to drive for at least a year! I just got a new car and now I can’t even use it! It is such a minor issue but for a girl who is so used to independence I’m finding it quite hard. Next, chemo side effects are no joke. In hindsight I’ve had it quite easy as I haven’t felt sick or anything like that but in terms of joint pain and tiredness it is nothing like I expected it to be. When my doctor told me the side effects my first thought was “well everyone surely experiences that in their day to day life, how hard can it be?” Turns out I was very naïve. Although I feel I have had it easy with not experiencing every symptom, it doesn’t make the ones I have had any easier to deal with. I’m now learning to listen to my body and figure out what it can handle.  I’m done complaining now, there are lots of positives in my life that have stemmed from going through cancer that need mentioning Firstly and most importantly I have a great support system behind me and my family have been there every step of the way with me. For that and so many other things I can never thank them enough. There are also so many people that I have connected with in the PTEN community and through them I have gained so much education and inspiration from hearing all of their different stories. Going through a life changing experience like I am right now has also made me a little braver I think! I want to make a difference and I am now gaining the confidence to do this. I have just been made a member of the PTEN International Family Council, a position which I am honoured to have and hope to use to spread more awareness and education of this syndrome. I am going to start a petition in order to lower breast screening ages as I don’t want any woman to go through what I am going through at such a young age. I am also thinking about writing a book! I am currently writing a blog but I have been told I should turn it in to a book so this is something I would definitely like to explore! All in all, being in a situation like I am (having the PTEN mutation and cancer) is scary but I am far from alone. There is a community behind me of fellow sufferers fighting their way through each day and yet there is so much more to be done. There is still more awareness and education needed and I am truly confident that we will get there. I am proud to be a PTEN warrior!
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Noelle Kei, beloved friend of RARE Revolution's, Nicola Miller, talks about the gifts of time and faith and how this powerful rare mama is now facing her own race, having being diagnosed with diffuse systemic scleroderma and having stem cell treatment
Can you explain the process for medical insurance in funding such a novel therapy, and how you managed these financial pressures and burden? My insurance company paid for all of my pre-transplant work, up to and including a round of chemotherapy and the placement of my port. A few weeks before I was admitted to the hospital my insurance company denied my transplant, on the grounds that it was not a covered benefit for my diagnosis in my plan brochure. If I had leukaemia or another covered condition, then they would pay for it. It was devastating. My haematologist, along with his nurse and my transplant nurse (assigned by my insurance company to assist with approval of treatments) worked tirelessly to get my transplant covered. One day whilst sitting at City of Hope I received a call to tell me that my transplant had been approved and that they made an addendum to my policy giving an exemption for scleroderma to be covered. A short while later I received a follow up call only to be told that a mistake had been made, and I was still not approved for the transplant. This was another devastating blow. After rapid intervention and appeals we finally got confirmation that the insurance would cover the costs. For all of the testing prior to transplant, a month long stay in the hospital with a transplant and all the post op care; my insurance company was billed more than a million dollars. The endless EOB’s (explanation of benefits), several re-billings coupled with the fact that my insurance was using a third-party company to pay and manage the claims only made things more confusing. I had thought that what I was charged in 2018 was my final copay due. It wasn’t until a year after my transplant that I received my final bill from the hospital. That copay and co-insurance amount, coupled with the beginning of a new year of out of pocket expenses added to my hospital bill; totalling thousands of dollars. The hospital has been very helpful in working out a payment plan with me, but nonetheless this bill along with many other medical expenses certainly adds a layer of stress to me in my recovery and to my husband. What after-care and emotional support are you receiving post treatment? I have had a wonderful team of doctors that have supported me throughout, including the difficult recovery post-transplant. My case has had its unique complications and I have always felt that my doctors have gone to great lengths to help me tackle any of the symptoms I have. They have always shown great concern not just for myself but for my family as well. I went into this knowing that HSCT would not be a cure for me but had hoped it would halt the disease progression. It’s looking more and more like it has simply slowed the progression which I am still grateful for. Before my transplant I was given two years to live. While I have bought myself more time my future is uncertain, and it’s hard to predict how long I have staved off the worst of this hideous disease. Each day is a gift and I’m grateful to still be here with my husband and children. My husband has shouldered so much throughout this ordeal. From juggling the responsibilities of a job that often takes him away from home, to taking over household duties while being a caretaker to me. He truly is my hero and I’m thankful for him each day.
Between counselling with ecclesiastical leaders of our faith or with professional counsellors when needed our family has been greatly supported. Going through such an arduous treatment doesn’t just affect the patient. It effects the entire family unit. We have been blessed with a community of many that have helped to lift not just me but my entire family. Has your faith helped you and the family during this time? It has tremendously. I don’t think we would have been able to endure what we have without the faith and knowledge that we have. When I first heard I had a life-limiting illness it was very difficult to deal with. I felt panic with the thought I would no longer be here for my husband and my children. Especially having a son with his own rare diagnosis and the unique measures needed to care for him. It was especially difficult as I found myself somewhat awake in between each episode where my heart stopped three times in one day. I prayed for peace that if it was my time to go I would be ok. And I prayed that my family would be taken care of. When life has got overwhelming and my burdens too big I know that my Heavenly Father and my Saviour Jesus Christ will help carry me and my family through whatever we are going through. I have had so many people not just of my faith but many different ones praying not just for myself but my family as well. We have certainly felt those prayers. There were so many different things that just fell into place from when I got sick to the time of my transplant and I don’t think these were just chance. At times I have felt like I have had not only earthly angels looking out for me but heavenly angels as well. What has been and is, the biggest challenge of managing your health whilst also raising a child with rare and complex health needs? I think asking for and accepting others offers of help. We have had a lot on our plate juggling my rare disease along with our youngest child’s rare conditions and the health of other family members. When you add that to just the everyday tasks of running a household and making sure everyone is taken care of and gets to where they need to be it can be overwhelming. It was hard to accept help, but we soon realised that’s there’s no way we can do everything on our own especially with me being so sick. We haven’t been able to travel as much as a family and celebrations have been paired down because I wasn’t in a position to help. But it’s brought us closer together as a family and helped us realise that it doesn’t really matter how we spend our time together as long as we are together. And for that I am grateful for each day is a gift. Is there anything you would like the health care professionals to know about your rare journey so far or things that they could have done to make things easily for you and your family along the way? Listen to your patients. They know their body best. Let them help partner in their own healthcare. I am lucky that my doctors have listened to me and let me help guide my course of treatment. Because of that (coupled with many tender mercies) I was able to go from diagnosis to transplant in five months. Many patients spend longer than that just trying to get insurance to approve the transplant. I know everyone’s complications are so individual, but I think perhaps more could be done to prepare patients and their families for what to expect during and post-transplant. I would encourage clinicians to make more emphasise on the importance of educating the patients caretaker and families and supporting them in the aftercare. What resources and signposting have you found helpful that you would like to share with others? https://www.scleroderma.org https://selfmanagescleroderma.com https://sclero.org https://sclerodermainfo.org Glossary of terms Systemic scleroderma is an autoimmune disorder that affects the skin and internal organs. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. The condition is characterised by the build-up of scar tissue (fibrosis) in the skin and other organs. The condition is also called systemic sclerosis because the fibrosis can affect organs other than the skin. Fibrosis is due to the excess production of a tough protein called collagen, which normally strengthens and supports connective tissues throughout the body. https://ghr.nlm.nih.gov/condition/systemic-scleroderma Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of systemic scleroderma (systemic sclerosis) characterised by skin hardening (fibrosis) and problems in many organs of the body. The disease can occur at any age but mainly affects people between 40 and 50 years of age. Symptoms include Raynaud’s phenomenon; skin fibrosis beginning on the fingers and face that rapidly becomes generalized; spider veins (telangiectasias) on the thorax, face, lips, tongue, and fingers; gastroesophageal reflux; and difficulty eating (dysphagia) along with weight loss, vomiting, diarrhoea or constipation. Dry mouth and dental involvement can occur. Joint pain (arthralgias), muscular pain, weakness, cramps, and destruction of the tips of the fingers or toes (acroosteolysis) are frequent. Severe problems involving the lung (fibrosis or pulmonary hypertension) and kidney problems may also occur. The exact cause of the condition is unknown. There is currently no cure. Treatment depends of the symptoms, but may include medication and surgery. https://rarediseases.info.nih.gov/diseases/9751/diffuse-cutaneous-systemic-sclerosis Haematopoietic stem cell transplantation (HSCT), also known as blood and marrow transplantation (BMT), is used to treat wide spectrum of haematological, and increasingly, non-haematological disorders. Autologous transplantation uses the patient's own stem cells, which are harvested prior to high-dose therapy. https://www.england.nhs.uk/wp-content/uploads/2018/07/Haematopoietic-stem-cell-transplantation-All-Ages.pdf Copay is a fixed amount for a covered service, paid by a patient to the provider of service before receiving the service. It may be defined in an insurance policy and paid by an insured person each time a medical service is accessed.
Everyone's talking mental health, but are we really listening? and Mental health first aid Torie Robinson, Epilepsy Sparks
RARE Event  Evaluating the Key Challenges to Advance Commercialisation & Patient Access Holiday Inn Kensington Forum, London, UK Workshop: 17 October 2019 Conference: 15 - 16 October 2019 www.orphandrugs.co.uk/rrm As the co-chairs of the 9th Annual Conference on Orphan Drugs & Rare Diseases, SMi are very pleased to invite you to attend this event, which will be taking place on 15th and 16th October in London. This conference will bring together a broad spectrum of experts from across the orphan drug world. The two-day compact agenda will offer a series of presentations, through which you will gain key insights into current trends and innovations in orphan drug development, using real world case studies to illustrate challenges and opportunities. The rare and ultra-rare disease landscape is constantly changing as new diagnostic and therapeutic technologies emerge and partnerships are developed to address patient access and funding issues. At the conference, speakers from patient organisations, pharmaceutical R&D companies, health technology assessment groups, and others will lay out the current landscape and address how the orphan drug space will develop as the century continues. Delegates will gain invaluable insights on major topics including:
Following the conference there will be a half-day workshop where delegates will deep dive into strategies for accelerating patient access to orphan drugs, addressing issues, opportunities and barriers, that are met when developing a product for patients with rare diseases. To view the full details of the 2-day conference agenda, half-day workshop and the expert speaker line-up, please view the brochure here www.orphandrugs.co.uk/rrm HOW TO REGISTER For more details and to register visit: www.orphandrugs.co.uk/rrm Email the completed booking form from the brochure and email it to the events team at: events@smi-online.co.uk If you are interested in joining SMi as a sponsor/exhibitor, there are still a few sponsor packages available to suit your business needs, please contact Alia Malick, Director on +44 (0) 207 827 6168 today or email amalick@smi-online.co.uk Mike Page one of the co-chair's of the conference, looks forward to personally welcoming you and having fruitful discussions at this must-attend event in London in October. Co-Chairs for 2019 Conference:
#SMiOrphanDrugs Please share the event details with your colleagues who may also benefit from attending the conference! www.orphandrugs.co.uk/rrm How social support improves quality of life for adults with rare genetic skin conditions: My story.3/9/2019
No-one understands my condition, so no-one knows how to help BackgroundStudy Aims The aim of this study is to explore the relationship between quality of life and social support for adults living with rare genetic skin conditions. Case study research: telling your story Each rare genetic condition has a range of physical features: many conditions can have a devastating impact on everyday life. Each person living with the effects of a rare genetic condition has a story to tell about their personal journey through the health and social care system, from diagnosis to treatment. One case study can tell an individual story which as has the power to touch hearts, changed minds and influence policy. A case study is a research method involving an up-close, in-depth, and detailed examination of an individual, a group of people or subject under investigation. By using a case study approach, the personal views of the participants are explored and any similarities or themes are highlighted in this study. The social impact of living with a rare genetic condition The social impact of living with a rare disease is often overlooked, and the psycho-social complexities of rare diseases can be misunderstood. The social effects are far reaching and can include a significant financial burden, an impact on family life, on coping, it may also result in stigma and social isolation. Most of the focus on the effects of rare diseases, is dominated by the medical aspects of the conditions, with relatively little attention paid to the social impact on the individual, carers and families. The medical model of health is largely concerned with physical or biological aspects of disease and illness. By comparison, the social model of health considers non-medical factors which contribute to health outcomes. Literature review - Initial research findings This study began with a literature review which highlighted one key outcome (1) that ‘informational support’ which is provided, and expressed using good communication, had the strongest correlation with perceived quality of life. Informational support is the provision of advice, guidance, suggestions, or useful information to someone. This type of information has the potential to help others problem-solve (2). Emotional Support is the offering of empathy, concern, affection, love, trust, acceptance, intimacy, encouragement, or caring. It is the warmth and nurturance provided by sources of Social Support. It is also referred to as ‘Esteem Support’ or ‘Appraisal Support’ Instrumental Support is the provision of financial assistance, material goods, or services. This form of social support encompasses the concrete, direct ways people assist others. Also known as Tangible Support. Companionship support is the type of support that gives someone a sense of social belonging. This can be seen as the presence of companions to engage in shared social activities. The findings from the literature provided a context for the next stage of the study, which was to determine what kind of social support adults with rare genetic skin conditions required. Once a diagnosis of EDS is handed to you, that is more or less where it stops in terms of support On-line survey – initial results This stage of the study included thirty-one participants who shared their experiences by completing an on-line survey. Eight participants were then selected to take part in an in-depth telephone interview. The group were characterised by rare conditions affecting the skin and connective tissue. Those participants who completed the on-line survey were adults over the age of 18 years, with diagnosed conditions including Atopic Eczema, Brooke Spiegler Syndrome, Cutaneous Mastocytosis, CYLD Cutaneous Syndrome, Ehlers-Danlos Syndrome, Epidermolysis Bullosa, Incontinenia Pigmenti, Hypermobility Spectrum Disorder, Lamellar Ichthyosis, Neurofibromatosis 1, Ichthyosis Bullosa of Siemens. Graph 1  Social support The focus of the on-line survey was to discover what social support the participants were receiving and who provides that support. The participants were invited to rate their perception of the overall quality of the social support they receive. Initial analysis of the participants’ responses indicated that there is a relationship between social support and quality of life. The participants were asked to consider support from family members, neighbours, support groups, religious groups and friends. The responses are highlighted in Graph 2, indicating that 23% of the group felt that their social support was ‘poor’. A comment from one of the participants gave some insight into why some of the group rated the social support as ‘poor’. The lack of recognition and support by official bodies is highlighted by one participant living with epidermolysis bullosa. More recognition and support from official bodies e.g. councils Graph 2  Graph 3 highlights the participants’ response to who provides them with social support, highlighted a lack of support from social care professionals. One common theme among the participants was the important role the family had in providing social support, particularly with regard to emotional support. One participant shared her experience of the emotional support she needs, due to the psychological effects of looking different. There is a distinct lack of social sympathy for my sort of disfigurement  Initial key findings
Conclusion The call for integrated support for people with rare genetic conditions has been widely promoted. The need for a bio-psycho-social approach to the management of conditions is paramount. There is a lack of high quality qualitative or mixed methods research into the lived experience of those living with the effects of rare conditions. The rare disease community are experts in their own experience; their stories and perspectives have to be taken into consideration in order to address the their needs and provide effective social support. Acknowledgments
A very big thank you to the organisations who have supported and promoted this research study Rare revolution Genetic Alliance UK EHLERS DANLOS SUPPORT UK Teddington Trust Findacure PRESS RELEASE
July 24, 2019: The Albinism Fellowship is celebrating after receiving the news they will receive a grant from Genetic Disorders UK, the national charity that organises the annual fundraising day, Jeans for Genes Day. This grant, from funds raised on the day, will be used to fund regional meetings for people with albinism.
Genetic Disorders UK’s Jeans for Genes Day is an annual fundraising event when school children and office workers wear their jeans in exchange for a donation to the charity. Although individually genetic disorders are rare, together they affect one in 25 children. This means that more than 30,000 babies each year are born in the UK with a genetic condition. Sadly, genetic disorders and their associated health problems mean that they are the biggest cause of death of children aged 14 years and under. Funds from Jeans for Genes Day are granted to specialised charities to provide care and support for children affected by genetic disorders. This year, the charity is encouraging supporters to pick a day that is best for them to hold their Jeans for Genes Day between Monday 16 and Friday 20 September. Laura Pattison, Campaign Director at Jeans for Genes Day said: “We are delighted to be helping the Albinism Fellowship support children - and families - with albinism. Our grant programme is open to all UK support groups and registered charities who work to improve the lives of children and families affected by genetic disorders. In 2019, 22 charities will benefit from the funds raised by the public on Jeans for Genes Day.” Further information
With a wealth of knowledge and experience in market access and reimbursement, Saira Sultan wanted to do more to support patients and patient groups in navigating this complicated landscape for rare and ultra-rare diseases and the orphan and ultra-orphan drugs needed to treat them. To this end, Saira founded the Haystack Project three years ago with the aim of enabling rare and ultra-rare disease patient advocacy organisations to coordinate and focus efforts that highlight and address systemic reimbursement obstacles to patient access. Their core mission is to influence the evolution of health care payment and delivery systems with an eye toward spurring innovation and quality in care, and ensuring access to effective, accessible treatment options for all Americans living with ultra-rare conditions Advances in research and the emergence of regenerative medicines, gene therapies and other personalised targeted treatment plans comes high treatment costs and ensuring these treatments will be accepted by payers and reach patients is a pressing concern. Working at governmental policy level, Haystack Project strives to ensure policy for access and reimbursement is fit for purpose and considers the unique challenges for treating rare and ultra-orphan rare diseases such as how patients define value vs. payers and how payment systems based on averages don't work for ultra-rare numbers. Haystack Project is now a 501(c)(3) with a Board of Directors seasoned in reimbursement policy, and Saira now serves Haystack as the organisation’s senior policy consultant. Cyndi Goss, Chairman of Haystack's Board noted, "Saira's ability to unify divergent groups around a solution and a message is critical to our efforts, but the real strength of Haystack lies in the patient organisations that come together every month, and several times in between, to share their experiences and learn about the policies they may know little about on paper but see play out in their patients' lives every day" Time for a dedicated Rare Cancer Policy CoalitionWith the National Cancer Institute defining a rare cancer as fewer than 15 out of 100,000 incidence per year, Saira felt that a new initiative was required to tackle the unmet need in rare cancers. Rare cancers are often associated with poorer outcomes, late diagnosis and ineffective treatment options mean higher mortality rates for certain types of rare cancer. A lack of research in this area also results in knowledge gaps and little interest from drug developers, but despite these challenges new therapies do come to market and so it is crucial that these life-saving treatments are accepted by payers and reach patients. Similarly, the metrics and models used to assess “value” of new treatments are a poor fit in evaluating new, and potentially costly, cancer treatments. The advocacy community can and should play a pivotal role in determining what a potentially life-saving treatment is worth. The Rare Cancer Policy Coalition (RCPC), created under the auspices of Haystack Project, focuses on rare and ultra-rare cancers. RCPC brings together cancer patient organisations to provide them with a powerful and collaborative voice. RCPC provides participants a platform for focusing specifically on systemic reimbursement barriers and emerging landscape changes that impact new product development and treatment access for rare cancer patients. It is the only rare cancer coalition developed just to focus attention on reimbursement, access and value issues across the rare cancer community. Working within the Haystack Project enables RCPC participants and rare and ultra-rare patient advocates to leverage synergies and common goals to optimise advocacy in disease states where unmet need is high and treatment inadequacies can be catastrophic. Haystack Project CEO, James Caro, whom worked with Saira in previous roles, said, "Saira has consistently proven that working with the leaders of advocacy organisations and their patients enriches every policy effort. The RCPC is a natural development since Saira has been steeped in oncology policy almost since the beginning of her career." Working together with researchers, physicians, patients and industry is the most powerful way I know to make the case for rare patients’ needs “Working together with researchers, physicians, patients and industry is the most powerful way I know to make the case for rare patients’ needs. Systemic barriers to treatment for really rare conditions must be eliminated. Our reimbursement system is the product of a time when we didn’t know if the Orphan Drug Act would work. Well, we now know it has worked and we haven’t adjusted for it on the payer side. Without those changes, we systematically discriminate against ultra-rare patients. This work reminds me why I’ve loved this field for over 25 years.” About
Saira is President and CEO of Connect 4 Strategies. She earned her law degree from the University of Viriginia and has worked in the U.S. Congress, Medtronic, Pfizer and Sanofi before starting Connect 4. The board of directors are listed at www.haystackproject.org Contact To find out more about the Haystack Project or the Rare Cancer Policy Coalition please contact Saira at Saira.Sultan@haystackproject.com And visit https://haystackproject.org/ and https://haystackproject.org/rare-cancer-policy-coalition |
