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.”
Two Organizations Fighting for Access to Today’s and Tomorrow’s Treatments – The Haystack Project and the Rare Cancer Policy Coalition (RCPC)
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 Coalition
With 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.”
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
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
Evaluating the Key Challenges to Advance Commercialization & Patient Access
Conference: 15th - 16th October 2019
Workshop: 17th October 2019
Location: Holiday Inn Kensington Forum, London UK
SAVE £200 AND REGISTER YOUR PLACE ONLINE HERE - EXPIRES SOON
It's imperative for scientific researchers and orphan drugs/rare diseases professionals to stay on top of the latest advancements, technologies and processes related to orphan drugs and rare diseases. For this reason and the success of the last few years conference and workshops, we have gathered experts representing top organisations to share their insights with you at The 9th Annual Orphan Drugs & Rare Diseases Conference taking place on 15th and 16th October 2019 in London, UK.
SMi Pharma had the opportunity to speak with three of our featured speakers and co-chair to discuss some of the challenges they face in the industry and their strategies for overcoming them. The following are excerpts from those Q&A sessions. Visit the download centre to read the full interviews.
We asked Eddie Pease: What do you see as the greatest research challenge to overcome in the field at the moment?
"The main challenge in my opinion is working out the probability of success – will the return of investment be reached? Are the drugs efficient and do we need to take any essential steps/adjustments? It is important that we get a better view of clinical and commercial success in this field and with this information, we can combine it with science and ultimately get drugs to patients quicker and with less cost"
Donatello Crocetta, what is your role within the Rare Diseases field and why are you supporting the Orphan Drugs and Rare Diseases conference for 2019?
"I have been working for many years at Global Medical Affairs in Rare disease field and I believe that it is critical to share best practices in this small community to allow more patients to get access to Diagnosis and advanced treatments."
Rick Thompson can you tell us about the invite letter includes?
"Patient centricity and engagement will also be at the heart of the event. Rare disease patients are now widely recognized as the true experts in their field, and I am heartened to see a patient focus throughout this year’s program. In my role at Findacure, we dedicate our time and resources to helping patient associations form, grow and professionalize, with the aim of delivering a strong patient voice and need into the heart of the orphan drug industry. It is my hope that SMi’s 9th Annual Conference on Orphan Drugs and Rare Diseases will help to inspire more collaborative projects in the rare disease field, which place patients at their heart."
To read the full speaker interviews and co-chairs invite letter please visit the download centre at: www.orphandrugs.co.uk today!
Download the brochure today to see what you could gain from attending and also take a look at our hand-picked expert presentations from the likes of Alexion Pharmaceuticals, Bioconal Emas, Finadcure, Takeda, Minoryx, Rare Life Solutions, Chiesi Farmaceutici and many more.
Reserve your secured place today to benefit from our £200 special early bird saving available when you book by 30th August 2019 online at www.orphandrugs.co.uk
SMi look forward to seeing you in October 2019!
Rare dermatological diseases patient organisations leading the way in community building and skills development
Last month, over 120 leaders of patient groups that support people living with skin diseases came together in Milan for two unique events hosted by the International Alliance of Dermatology Patient Organizations (also known as GlobalSkin): the RareDERM Forum and the GlobalSkin 2019 Conference.
The RareDERM Forum, the first event of its kind, brought together nearly 40 rare and uncommon dermatological disease patient group leaders from 13 countries. Participants benefitted from formal learning sessions and connecting with other patient leaders and dermatology stakeholders.
A primary objective of this two-day Forum was to begin building a cohesive community of rare dermatology disease patient organisations and supporting stakeholders to ensure the lives of these patients are positively and measurably impacted through improved care and treatment. Working in small groups and then as a larger plenary group, participants began developing a strategy that defines challenges and needs; will build a cohesive community to grow knowledge and skills; will help stimulate research, foster connectivity; and deliver advocacy. Several advisory committees were formed within the community and reports on their progress will be shared later this year.
Following this ground-breaking event, most RareDERM patient leaders also attended the three-day GlobalSkin 2019 Conference, which is hosted every second year, and is specifically designed for dermatology patient leaders with a focus on advocacy, science and research, and building organizational capacity resulting in strong, resilient organizations. It attracted over 120 delegates from 35 countries representing a wide cross-section of serious skin diseases. Participants learned from each other and outside experts during stimulating plenaries, engaging workshops, and small group mentorship opportunities through a living library.
To learn more about the RareDERM initiative, please visit the GlobalSkin website. Groups and organisations supporting people living with dermatological diseases are invited to join the global movement for skin by signing up for a no-cost GlobalSkin membership here.
The International Alliance of Dermatology Patient Organizations (also known as GlobalSkin) is a unique global alliance, committed to improving the lives of skin patients worldwide. Together, with our network of over 150 patient organizations, we nurture relationships with members, partners and all involved in healthcare ─ building dialogue with decision-makers around the globe to promote patient-centred healthcare. For more information visit
New research reveals impact of ‘hidden’ health conditions and calls for better care for patients with rare disease, PKU
For the first time, patient groups – supported by funding from BioMarin - from across six countries in Europe have come together to create a coalition with the shared goal of improving health services for PKU patients. The Live Unlimited PKU campaign has launched on the 28th June, International PKU Day and brings together patient organisations from Turkey, Spain, France, Sweden and Italy to tackle public misconceptions of the disease.
The campaign aims to raise awareness of the potential severity of the disease and calls for improved standards of adult care, including consistent provision of metabolic specialists, dieticians and psychological support for every adult with PKU in Europe – aligned with the European Guidelines from 2017.iv
Phenylketonuria (PKU) is a rare, lifelong metabolic condition which affects around 1 in 10,000 people in Europe.ii The condition limits a person’s ability to break down protein, with potentially devastating effects on the brain if left unmanaged.iii In Europe, the condition is screened for during the new born heel-prick test, but just 9 per cent of the public have heard of the condition.iv
There is currently no cure for PKU, so either a heavily restricted diet – with almost no natural protein - and/or medical treatment may be required for life.v Despite the neurological effects of the condition and difficulties following a low-protein diet, just 12% of adults with PKU have access to the multidisciplinary tools and support they need, with many adults having to go to children’s wards to receive any specialist care.vi
PKU can have a serious and long-lasting effect on patients’ mental health and quality of life, with a recent study showing that as many as 52% of adults with PKU lived with anxiety or depression. Other issues reported by patients include ‘brain fog’, sleep issues and lapses in concentration.vii
These findings were in line with polling results conducted as part of the campaign, which demonstrated that PKU patients are more likely to find certain life milestones stressful than people without a hidden health condition. Key findings build a Pan-European picture of the impact PKU has on the lives of patients when compared to those without a hidden health condition, including:
Every patient is entitled to the best possible care regardless of the rarity of their disease. The Live Unlimited PKU message resonates with us as healthcare professionals, with patients and hopefully, with the general public and decision makers. Raising awareness of this condition and the burden it has on patients’ lives on a daily basis is extremely important.
The Live Unlimited PKU campaign has been co-created by many patients, and six patient support organisations - with funding and support from the biopharmaceutical company BioMarin - in order to drive policy change and help put in place the right care for adults living with PKU across Europe.
The campaign includes a suite of visual imagery and videos featuring the personal stories of patients across Europe. There are campaign videos which highlight the lives and challenges of PKU patients in their respective countries and many more case-studies available on the campaign website (www.liveunlimitedPKU.com). The one-year campaign will run until International PKU Day 2020, with many patient groups and individuals helping to raise awareness of PKU until this date. Further events and initiatives will continue throughout the year.
Five patients from across Europe share their experiences of living with PKU in a series of videos. The full video series can be viewed here.
About Live Unlimited PKU
The Live Unlimited PKU campaign launched in June 2019 to raise awareness of the gaps in care for adult patients living with the rare genetic condition, phenylketonuria (PKU). The campaign has been developed alongside the six patient groups and their memberships: AMMeC and Cometa A.S.M.M.E (Padua) (Italy), Les Feux Follets (France), Svenska PKU-föreningen (Sweden), PKU Aile Derneği (Turkey), and FEEMH (Spain), funded and developed by BioMarin Europe Ltd. The campaign seeks to call for consistent provision of adult metabolic specialists, dieticians and psychological support for every adult with PKU in Europe.
About phenylketonuria (PKU)
Phenylketonuria (PKU) is a rare, lifelong metabolic condition which limits a person’s ability to break down protein and can lead to cumulative toxic effects on the brain.iv With PKU, the foods you eat directly impact the way your brain functions.
People with PKU have a problem with the phenylalanine hydroxylase (PAH) enzyme, and so can’t fully break down an amino acid called Phenylalanine (Phe), which is found in all protein-containing foods (e.g. nuts, meat, eggs, dairy) and sweeteners such as aspartame.iv If too much protein is consumed, high levels of Phe build-up in a person’s blood and disrupt the balance of neurotransmitters - or even cause physical damage to the brain itself. This can result in neurological symptoms such as problems with memory and attention, depression and anxiety.[viii] The condition is screened for during the new born heel-prick test, and affects around 1 in 10,000 people in Europe.iv,v PKU is an inherited autosomal recessive disease. This means that if both parents are carriers of the PKU gene, their baby has a 1 in 4 chance of suffering from PKU.[ix] The condition is tested for in almost all European countries during the new born heel prick test, but general awareness of the condition remains low. Until fairly recently, doctors thought that PKU was a condition that was outgrown once the brain fully developed as a teenager. However, we now know that high blood Phe levels continue to result in damage at any age, and so the condition should be managed for life.[x]
Please find the campaign website, including all patient stories, here: www.liveunlimitedPKU.com
[ii] ESPKU. PKU: Closing the Gaps in Care An ESPKU benchmark report on the management of phenylketonuria within EU healthcare economies. Available at: https://www.espku.org/wp-content/uploads/2015/06/PKU_report_FINAL_v2_nomarks.pdf
[iii] Wegberg AMJ, MacDonald A, Ahring K, et al. The complete European guidelines on phenylketonuria: diagnosis and treatment. Orphanet J Rare Dis. 2017;12(1):162. Published 2017 Oct 12. doi:10.1186/s13023-017-0685-2.
[iv] Pitt JJ. Newborn screening. Clin Biochem Rev. 2010;31:57–68. Last accessed April 2019
[v] Al Hafid N, Christodoulou J. Phenylketonuria: a review of current and future treatments. Transl Pediatr. 2015;4(4):304–317. doi:10.3978/j.issn.2224-4336.2015.10.07
[vi] Blau et Al. Management of phenylketonuria in Europe: Survey results from 19 countries. Molecular Genetics and Metabolism 99 (2010) 109–115
[vii] Ford, S. et Al. Living with Phenylketonuria: Lessons from the PKU community. Molecular Genetics and Metabolism Report. 2018
[viii] Bilder DA et Al. Systematic Review and Meta-Analysis of Neuropsychiatric Symptoms and Executive Functioning in Adults With Phenylketonuria. Dev Neuropsychol. 2016 May-Jun;41(4):245-260.
[ix] NORD. 2019. Phenylketonuria. Available at: https://rarediseases.org/rare-diseases/phenylketonuria/. Last accessed April 2019
[x] Berry et Al. Newborn screening 50 years later: access issues faced by adults with PKU. Genetics in Medicine volume 15, pages591–599 (2013)
PhD research study: Quality of life and social support for adults living with EB and other rare skin conditions
Navigating Quality of Life and Social Support
Sondra Butterworth began her working life as a general nurse. During a career break to have her two children, she decided to study for a degree in Psychology and went on to gain a Master's degree in Psychology at Manchester Metropolitan University. It was during that time she gained an interest in Community Psychology and the empowerment of people living with disabilities.
Sondra is currently a Health and Social Care PhD student at the University of Chester UK and works for the charity DEBRA UK. This is where Sondra became passionate about the social support and quality of life impact on people affected by Epidermolysis Bullosa (EB), going on to produce the literature review along with Dr. Kate Martin, Consultant Clinical Psychologist EB Service and Dermatology, Solihull Hospital, supported by DEBRA UK. (Read the abstract below.)
The next stage of the research includes an on-line survey which is aimed at adults living with EB and other rare genetic skin conditions.
Taking part in the survey
Quality of life and social support
About World PI Week
World PI Week is a global movement to raise awareness of primary immunodeficiency and related challenges; promote quality of life for people with primary immunodeficiency, early diagnosis, availability and access to treatment and care worldwide; and stimulate communication and advocacy around primary immunodeficiency.
Primary immunodeficiencies are rare diseases which occur when a person’s immune system is absent or does not function properly. When a defect in the immune system is inherited (carried through the genes), it is called primary immunodeficiency. There are over 320 forms of Primary Immunodeficiency (PI or PID), ranging widely in severity.
Primary Immunodeficiency often presents in the form of “common” infections, sometimes leading physicians to treat the infections while missing the underlying cause, allowing the infections to reoccur, and leaving the patient vulnerable to vital organ damage, physical disability, and even death.
For more information, please visit www.worldpiweek.org, follow us on Twitter @WorldPIWeek.
Bénédicte Faure, campaign manager: email@example.com
EspeRare enters into partnership with Dermelix Biotherapeutics to develop DMX-101, an in utero treatment for X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)
- DMX-101 has the potential to become the first ever in utero administered drug to correct a genetic disease before birth
- EspeRare and Dermelix aim to initiate the pivotal trial in Europe and then in the US in the second half of 2019
- Both partners have signed an Ethics and Social Responsibility Charter under which they commit to continuously engage with the patient community during the development of the therapy
Geneva, Switzerland – 2 April, 2019 – EspeRare, a not-for-profit organization dedicated to accelerating the development of rare diseases treatments, today announced that it has entered into an agreement with Dermelix Biotherapeutics for the co-development of its lead programme, DMX-101. DMX-101 is a novel in utero protein replacement therapy for the treatment of X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED), a rare pediatric genetic disease.
Under the terms of the agreement, EspeRare will sponsor the development of DMX-101 (previously ER-004) in Europe, where it was accepted under the EMA’s PRIME (Priority Medicines) scheme and benefits from Orphan Drug Designation. Dermelix will sponsor the development of DMX-101 outside of Europe and will be responsible for its commercialization worldwide.
XLHED is a rare genetic disorder affecting ectodermal structures including sweat glands, respiratory glands, skin, hair and teeth. Clinical manifestations of XLHED are severe and can include life-threatening episodes of hyperthermia, heat intolerance, and an increased risk of serious respiratory tract infections. There are currently no approved therapies for treatment of XLHED and the current standard of care is only palliative.
DMX-101 is a protein replacement therapy designed as a substitute for endogenous EDA, a protein missing in XLHED. It is administered during late foetal development through a single-course treatment delivered into the amniotic fluid. This approach has already demonstrated significant benefits in a prenatal study, the results of which were recently published in the New England Journal of Medicine1 and featured in Nature Medicine’s 2018 Research Highlights2.
In the second half of 2019, EspeRare and Dermelix anticipate the start of patient enrollment into a pivotal study for DMX-101, first in Europe and then in the US, with the aim of moving the treatment towards market approval. In the US, DMX-101 benefits from Orphan Drug Designation and Fast Track Designation by the FDA.
“Patients with rare diseases so often lack the treatment options they need. This partnership with Dermelix represents an amazing opportunity to bring an innovative therapy to patients and to potentially change their lives radically. Beyond XLHED, we are committed to paving the way for other prenatal treatments to correct genetic diseases before birth.”
Dr. Nick France, Chief Medical Officer of Dermelix, commented: “It is both tremendously exciting and humbling to be able to participate in such a groundbreaking program. The ability to correct a severe disease before birth represents a huge step forward in therapeutic paradigms. We look forward to a productive collaboration with EspeRare and working hard for families with XLHED.”
In line with EspeRare’s model and in order to reflect EspeRare and Dermelix’ common values and patient-centric approach, the agreement also includes an Ethics and Social Responsibility Charter under which both partners have committed to fully and transparently engage the patient community. Through a Patient Advisory Council, the partners will streamline information transfer in order to provide valuable inputs for the development of DMX-101.
- N Engl J Med 2018; 378: 1604-1610
- Nature Medicine 2018; 24: 702
XLHED is a severe, chronically debilitating and life-threatening rare disease affecting approximately 4/100,000 live male births every year. XLHED is caused by genetic mutations in the EDA gene, a gene that encodes for an important ectodermal developmental protein, EDA. The absence of functional EDA results in abnormal development of the skin, sweat glands, sebaceous glands, hair, oral cavity, and respiratory mucosal glands resulting in serious life-threatening clinical manifestations from birth including hyperthermia, craniofacial anomalies and recurrent respiratory infections that impair quality of life in patients and their families.
For more information, please visit https://bit.ly/2KbMqGa
EspeRare is a Swiss not-for-profit organization that is committed to improve the lives of children with life-threatening rare diseases. EspeRare addresses the unmet medical needs of these children by uncovering the potential of existing treatments. EspeRare’s innovative model combines pharmaceutical know-how with philanthropic, public and private investments to develop and bring to life these discontinued therapies. With its unique patient-centered approach to drug development, EspeRare engages the patient community at each step of the process, with the intent of giving children and their families fair access to these therapies and a new hope for the future. For more information, please visit https://esperare.org/en/node/13
DMX-101 is a fully humanized EDA molecule consisting of the human IgG1 Fc sequence linked to the human EDA TNF binding domain. Preclinically, DMX-101 has been shown to bind to the receptor EDAR resulting in activation of the NFϰB signaling pathway, which triggers the transcription of genes involved in the normal development of multiple tissue types. DMX-101 is the first and only treatment specifically targeting XLHED. Administered during the third trimester of pregnancy, it has the potential to become a “single course” treatment, significantly improving symptoms of the disease throughout patients’ lives. This approach has already demonstrated significant potential in in a case series of three patients treated in utero with DMX-101 during the third trimester of pregnancy. The treatment normalized sweat gland function and associated thermoregulation, and improvement in dentition and respiratory function were observed. These results were recently published in the New England Journal of Medicine1 and featured in Nature Medicine’s 2018 Research Highlights2.
For more information, please visit https://esperare.org/en/dmx-101
About Dermelix Biotherapeutics
Dermelix is a privately-held, clinical-stage biopharmaceutical company focused on the development of innovative therapies for rare and debilitating dermatologic conditions with high unmet medical need. For more information, please visit https://www.dermelix.com
For English-speaking and International Media:
Instinctif Partners for EspeRare
Sue Charles / Dr Christelle Kerouedan / Genevieve Wilson
T: +44 (0) 20 7457 2020
The march has been organised by a group of pioneering researchers and medics who have made a breakthrough discovery that the ‘patients were in fact right all along’. A recent paper published on PubMed set out the results from a 15 year research project, costing over one billion pounds, which concluded that at no time in history has civilisation experienced a pandemic of Munchhausen syndrome or Munchhausen by proxy (previously factitious disorder) – an illness in which a person fabricates illness for themselves or a dependent and puts them through unnecessary medical treatment. The study went on further to conclude that it found 99.87% of patients presenting in the consultation room were credible and educated individuals, who were highly informed and able to articulate their symptoms accurately.
The study states that these problem patients were in fact found to be affected by one or more of over 7,000 rare diseases which it estimated accounts for some 350 million patients worldwide.
Dr. A (who preferred to remain anonymous), told us:
“The results of this study are astounding. It turns out our patients were right all along. Fancy thank – who knew!”
The organisers hope to see millions take to the streets and are already setting their sights on planning the 2020 march. “With a century of attitude to overturn there is much work to do, but this study and march are an important first step. Next we will be recalling the following posters which are known to adorn many a GP waiting room walls – PLEASE DON’T CONFUSE YOUR GOOGLE SEARCH WITH MY MEDICAL DEGREE.
Instead they will be replaced with the following Medical Association approved poster.
I PROMISE NOT TO UNDERMINE YOUR LIFETIME OF LIVING WITH YOUR CONDITION BASED ON MY ONE HOUR MEDICAL SCHOOL LECTURE ON IT.
Doctors and patients alike all agree – these are exciting times!
Take the new Rare Barometer Voices survey on rare disease patients’ experience of treatments and make your voice heard
Eurodis, the non-governmental patient-driven alliance of patient organisations is asking people to share their experience of rare disease treatments via their new Rare Barometer Voices survey.
Is there a treatment for your rare disease? Are you able to access it when and where you need it? Has this treatment resulted in a positive or negative experience for you?
Through asking questions such as these we will be able to better measure and understand the unmet treatment needs of people living with a rare disease. The new global Rare Barometer Voices survey will generate facts and figures which can be used to advocate for positive change with regards to access to, research on and administration of treatments for the rare disease community
This global survey is open to anyone from any country in the world who is living with a rare disease, as well their family members and carers. The survey is available in 23 different languages and all responses are anonymous.
It takes 10 minutes to complete the survey online and the more people who respond and share their experiences, the more powerful our voice will be!
If you are not already registered to participate in the Rare Barometer Voices program, you will be asked to complete a short registration form before you begin the survey. The survey closes on 30 April.
How will the results of the survey be used?
The survey responses will be used to develop insights into the experience of people living with a rare disease in relation to treatments. We will be able to generate an overview of rare disease patients’ experience of treatments at a global level as well as breakdown the results by geography, disease group, gender and age.
The results will be shared with patient organisations, policy makers and the general public. The findings will be used by Eurodis in their advocacy work to drive real change for people living with rare diseases. The key insights will also be shared with all respondents via email and social media and the full report and associated infographic will be made available on the Rare Barometer Voices website.
Why Rare Barometer Voices?
Rare Barometer Voices is the EURORDIS-Rare Diseases Europe survey initiative that brings together over 8,000 rare disease patients, family members and carers who share their experiences and opinions on the issues that matter to the rare disease community. Rare Barometer Voices was created to systematically collect patients’ opinions on transversal topics and introduce them into the policy and decision-making process. The objective of the programme is to transform patients’ and families’ opinions and experiences into facts and figures that can be shared with a wider public and policymakers.
Eurodis would like to thank you in advance for your participation. For more information, visit Eurodis
The UK’s first drug trial for Rett Syndrome
After the warm welcome from Rick Thompson, CEO of Findacure, we heard from Reverse Rett and Rett UK. Rachael Bloom Stevenson, CEO of Reverse Rett talked about Reverse Rett’s involvement in the first UK clinical trial for Rett Syndrome in 2017, which was launched at King’s College Hospital in London under Professor Paramala Santosh. Becky Jenner, CEO of Rett UK and parent to Rosie, spoke about her daughter’s experience of participating on the trial and the benefits that they personally have experienced from the trial.
Repurposing nitisinone in alkaptonuria
Professor Lakshminarayan Ranganath, Director of the National Alkaptonuria Centre (NAC), is a consultant at the Royal Liverpool Hospital, he talked about repurposing nitisinone in alkaptonuria patients.
Alkaptonuria (AKU) is an iconic autosomal recessive condition, caused by a faulty enzyme (homogentisate dioxygenase) in the tyrosine degradation pathway that results in a build up of homogentisic acid (HGA) in the body. This affects multiple systems in the body including the spine, joints, heart, ligaments, eyes and kidneys.
Nitisinone has been used in a related disorder, hereditary tyrosinaemia 1, as the standard of care for more than 20 years. Data collected from the NAC shows a beneficial effect of nitisinone in AKU.
Pharnext on Pleotherapy
Pharnext is an advanced-clinical-stage biopharmaceutical company. Rodolphe Hajj, Chief Pharmacology Officer and Xavier Paoli, Chief Commercial Officer at Pharnext, gave a joint talk about Pleotherapy™, a platform that systemises the identification and development of new synergistic combinations of repositioned drugs for diseases with high unmet medical needs. These new therapeutic entities are called PLEODRUG™ and they are expected to feature high levels of efficacy and safety due to being formulated with new, optimal, lower doses of their individual components, and they target simultaneously several disease pathways.
We had the pleasure of hearing from Logan Williams, winner of The Student Voice essay competition. Logan is a final year medical student at The University of Auckland. The title of his essay Repurposing: a rare opportunity: a brief insight into how implicit bias towards biomedicine impacts the care received by patients with a rare illness. His essay focused on his experience of treating a five-year-old boy with worster drought syndrome and how he became inadvertently caught in the trap of focusing on the boy’s diagnosis rather than the patient.
After speaking to the boy’s mother, Logan searched to understand the origin of biases towards biomedicine, with himself and the medical system, believing it is imperative that patients and families are given a voice.
Dr Pan Pantziarka spoke about his work as part of ReDo (Repurposing Drug in Oncology) and an AMRC led repurposing round table group, which aimed to facilitate the use of off-patent repurposed medicines within the NHS.
Idebenone: how repurposing this drug is helping Duchenne muscular dystrophy
Catherine Lawrence, Senior Medical Advisor UK at Santhera and Janet Bloor, parent and Duchenne Advocate, and Vice Chair at RACC, jointly discussed advocacy for Duchenne, the development of the drug Idebenone and the subsequent clinical trial.
Duchenne muscular dystrophy is a rare genetic muscle wasting life-limiting disease. Santhera was the first pharmaceutical company to address the hugely unmet needs of older non-ambulatory boys, and has been trialling Idebenone, originally developed for Alzheimer’s, as a respiratory drug for Duchenne.
Janet talked about how her son (who is now 25) and has been on this trial for 18 months. Janet is a strong advocate of having a registry for your disease that is interconnected on a global scale.
A life with PNH: from isolation to treatment
The last speaker of the day was Suzanne Morris a PNH Patient Representative. She was diagnosed as a child in the 1970s when there was very little help or support. It was incredibly moving to here Suzanne speak of living her life in secret for decades. After her diagnosis and in the following years she talked of the difficulty of living with PNH in a time when there was a lot of prejudice in society against blood diseases. Suzanne also discussed the lack of focus on the mental side of conditions and how this is not taken in to consideration. This led to a discussion about compulsory counselling and the benefits that this could potentially give to patients and their families.
Suzanne featured in our RARE Blood issue read it here.
Jill’s Early Life
Jill Viles was a normal baby and hit all expected early developmental milestones, but at four years old, Jill began stumbling and tripping. She also began experiencing a burning sensation in her legs, accompanied by loss of fat on her limbs and loss of muscle. Jill was referred to a specialist clinic for
diagnosis, but could only be told that she had a rare form of muscular dystrophy (MD), and no one could pin point the exact cause.
Jill’s brother experienced the same symptoms, though to a lesser extent, but strangely, Jill’s other two siblings, whilst experiencing the same fat loss, also experienced an increase in muscle mass in some parts of their bodies.
Throughout Jill’s life she was left with questions—what was the underlying cause of her muscular dystrophy? Why were the symptoms so different amongst her siblings? Why was she wheel-chair bound, while her sister was
complimented on her “toned arms”?
Confirming the Diagnosis
It was like finding a picture of family
Congenica Joins the Quest for Answers
Craig shared Jill’s story with Congenica’s clinical team, who persuaded company leadership to donate whole genome sequencing and analysis services not only for Jill, but also her siblings, to help get to the bottom of what was causing their phenotypes.
using a whole-genome sequence secondary analysis pipeline.
The results were loaded into Sapientia for analysis and variants
were reviewed by Congenica’s Clinical Team.
Investigating with Sapientia
A patient story of diaganosis and discovery
muscular phenotypes, including POMT1, POMT2, LMNA, and LAMA2. They applied population-
frequency data to filter out common variants and return only variants that are either absent
or extremely rare frequency within the general population. In addition to this, the team applied an
additional series of filters related to variant consequence.
The team found the likely causative variant was a heterozygous missense variant, LMNA
NM_170707 c.1580G>C. With this data on hand, they then applied the ACMG Guidelines and created
a fully-auditable decision trail within Sapientia. Ultimately, they reconfirmed the lamin A/C
mutation in Jill and her three siblings.
Investigating with Sapientia
By chance, another potential avenue of exploration was uncovered when a Congenica team member attended a scientific conference in the US and saw a presentation by J. Zieba et al. The talk was on a mutation in a gene involved in the TGF-β signalling pathway, which is involved in skeletal muscle growth and development. During the talk, a photo was shown of a Belgian Blue - a type of cattle known for its hypermusculature or “double muscling.”
The team applied a gene panel to examine the many genes involved in the TGF- β pathway, searching for variants and once again looking for commonality between the two groups of siblings. The analysis uncovered a mutation in SMAD7 that was common to Jill and her brother, while absent from her the brother and sister who displayed excess muscle growth. A literature search showed that several other studies have suggested that SMAD7 enhances skeletal muscle differentiation and is required for the formation of muscular tissue3,4,5,6,7. Upon review, the Congenica team determined there was sufficient evidence pointing to the SMAD7 mutation, and a potential modifying gene had been found.
by the team in their analysis. The amino acid is conserved down to zebrafish. The ExAC
database from the Broad Institute indicates a missense constraint score of 3.87, suggesting that
missense variance is not well tolerated in this gene.
You don’t see companies doing stuff like this. Congenica’s intervention led
to the breakthroughs we are pursuing, which we wouldn’t have seen otherwise.
wouldn’t have seen otherwise.”
under-expression of the gene in different tissues. Additionally, she is collaborating
with her colleague, Dr. Benjamin Darbro, and Jill to form a cohort study to further
examine the implications of these findings.
What the Future Holds
Dr Wallrath’s research continues, and so does Jill’s. Today, Jill spends her days as a patient advocate,
educator and a mother, facilitating EDMD research and helping patients around the world. Her story is one of curiosity and strength, and she continues to help others to find each of their own. “She is really a major force,” said Dr Wallrath, “There are a few individuals that can make a difference, and she is one of them. You can learn more about Jill and donate to her cause on her GoFundMe Page:
There are a few individuals that can make a difference, and she is one of them
2. Congenica On Demand Webinar: Discovering the Missing Link Between my Rare Disease and an Olympic Athlete. Available at: https://www.congenica.com/webinar-discovering- missing-link-rare-disease-athlete/
3. Zhu et al. 2004. Myostatin signalling through SMAD2, SMAD3 and SMAD4 is regulated by the inhibitory SMAD7 by a negative feedbackmechanism. Cytokine 26:262–272.
4. Kollias et al. 2006. SMAD7 promotes and enhances skeletal muscle differentiation. Mol Cell Biol 26(16): 6248-6260.
5. Cohen et al. 2015. Genetic disruption of SMAD7 impairs skeletal muscle growth and regeneration. J Physiol. 593(Pt 11): 2479–2497.
6. Hua et al. 2016. SMAD7, an antagonist of TGF-beta signalling, is a candidate of prenatal skeletal muscle development and weaning weightin pigs. Mol Biol Rep. 43(4):241-51.
7. Winbanks et al 2016. SMAD7 gene delivery prevents muscle wasting associated with cancer cachexia in mice. Sci Transl Med. 8(348): 348ra98.
Despite AKU being first identified more than 100 years ago, patients still do not have a licensed therapy to treat the disease effectively. We hope that SONIA 2 will change this and provide the data needed for the European Medicines Agency to grant nitisinone a marketing authorisation for AKU.
Prof. Lakshminarayan Ranganath, DevelopAKUre’s Chief Investigator
A ground-breaking clinical trial of a drug to treat the ultra-rare disease alkaptonuria (AKU) came to an end in January, with results expected in late 2019.
The drug, called nitisinone, prevents the build-up of an acid that attaches to joints and bones and turns them black and brittle, leading to severe pain and osteoarthritis.
The clinical trial, called SONIA 2 (Suitability Of Nitisinone In Alkaptonuria 2), studied 138 AKU patients for five years to see whether the drug slows or even halts the progress of the disease. The last patient had their last visit on 18 January, marking the end of the clinical stage of SONIA 2.
Twelve organisations under the name DevelopAKUre, implemented the SONIA 2 trial. It included hospitals, universities, patient groups, a small business, a biotech and a pharma company from seven countries of the European Union and was financed by a £5 million grant from the European Commission.
Nitisinone is already used off-label at the National AKU Centre run by the Royal Liverpool and Broadgreen University Hospitals NHS Trust for English and Scottish patients. Published data from the National AKU Centre shows that nitisinone slows down the progress of the disease.
However, for nitisinone to receive a license from the European Medicines Agency it needs to be studied successfully through a randomised control trial on many patients, hence the importance of SONIA 2.
AKU, or black bone disease, was the first identified inherited disease. A genetic mutation causes a build-up of a toxic acid that pigments and eventually destroys patients’ bones, cartilage and tissue, turning them black and brittle. Many life-changing disabilities result. Patients develop early-onset osteoarthritis, which can destroy every joint in the body.
One patient said that "it feels as if your bones are wrapped in barbed wire". Heart disease can also start when tissue hardens around the heart. Because of all this, patients can suffer from chronic pain, depression and isolation. AKU affects approximately 1 in 500,000 people, apart from in Slovakia where it is more common and affects 1 in 19,000 people.
The SONIA 2 trial took place in three clinical trial centres: the Royal Liverpool and Broadgreen University Hospitals NHS Trust in the UK, the Hôpital Necker-Enfants Malades in Paris, France, and the National Institute for Rheumatic Diseases in Piešťany, Slovakia. It followed a four-week dose finding study called SONIA 1 in 2013.
DevelopAKUre is an EU-wide consortium consisting of the following organisations: the AKU Society (UK), the University of Liverpool (UK), the University of Siena (Italy), the Biomedical Research Centre (Slovakia), the Royal Liverpool and Broadgreen University Hospitals NHS Trust (UK), Nordic Biosciences (Denmark), SOBI (Swedish Orphan Biovitrum, Sweden), PSR (The Netherlands), ALCAP (France), the National Institute of Rheumatic Diseases (Slovakia), Hôpital Necker (France), and the Institut Necker (France).
The AKU Society was founded in 2003, when there was no licensed treatment for AKU. The society has pioneered an international clinical trial into a drug called nitisinone, which reduces the harmful effects of the disease. It also offers support to AKU patients and their families. Patients receive home visits and get the latest information online. Specialised patient workshops, held twice a year, are a source of advice and support for patients in and outside the UK. Patient Ann Kerrigan said that ‘the peer to peer support has really made a difference for me, helping me feel less isolated.’
A new National Specialist Service is available on the NHS bringing medical specialists and families together with Cockayne Syndrome and Trichothiodystrophy (CS/TTD)
The new centrally funded National Specialist Service for patients who have the life-limiting genetic disorders known as Cockayne Syndrome and Trichothiodystrophy (CS/TTD), started in Feb 2019. This service is closely linked and allied with the already well established and highly regarded Xeroderma Pigmentosum Service (XP) and consolidates the provision of a comprehensive DNA Repair Service nationally.
The objective of the service is to provide a high quality, multidisciplinary patient focused service to those with DNA repair disorders. It aims to jointly manage all patients in the UK who wish to attend in partnership with their local consultants and care teams facilitated by a nurse-led outreach network.
Monthly clinics are held at the recently opened Rare Disease Centre at St Thomas’. Patients can be seen and assessed by all relevant specialists on the day to develop a bespoke management care plan which is shared with their local teams.
This unique clinical service will establish a forum for translational research opportunities that would not otherwise exist and provide a vital mechanism for seamless transitional care for patients moving from paediatric into adult services as appropriate.
Maria Piggin talks to Rare Revolution about PNH and PNH Support, a community of people living with PNH (and their family members) in England, Wales and Northern Ireland.
PNH Support is a Charitable Incorporated Organisation (CIO). The organisation was established in 2015 by patients who realised there was a need for an independent, patient led, legal platform through which they could engage with their many stakeholders. These stakeholders include the NHS, the PNH National Service, homecare providers, pharmaceutical companies developing new treatments, the National Institute for Health and Social Care Excellence (NICE) and other patient organisations both locally and internationally.
I was diagnosed with the ultra- rare bone marrow failure disorder PNH in my early twenties in my home country, New Zealand. My diagnosis came after a holiday to Bali where I got food poisoning, after which my recovery was unusually long and significantly, featured blood in my urine. This is a symptom after which the disease is named but which not all patients experience.
It took approximately four years to receive a diagnosis following investigations in New Zealand by consultants from different disciplines. A haematologist who had undertaken some training at University College London Hospital finally diagnosed me after refusing to give up. At that time in the late '90s, there was no treatment and no way to access other patients whom I could meet.
In hindsight, a multidisciplinary approach by the medical profession would have been very beneficial to the speed of my diagnosis, and this premise holds true today.
PNH is where blood cells are vulnerable to be attacked by a part of the body’s immune system called ‘the complement’ due to the absence of two glycosylphosphatidylinositol (GPI)-anchored proteins, CD55 and CD59 as a result of somatic mutations in the 'PIGA' gene. The process by which the red blood cells are destroyed, is called haemolysis and is responsible for many of the symptoms of the disease, some life threatening. Haemolytic PNH affects between approximately 1 and 9 people in every one million of the population. PNH affects both men and women, all races and all ages. Most patients are diagnosed when they are in their 30's or 40’s but PNH can develop at any age. PNH is an acquired disease, it cannot be inherited, and it is not contagious.
Moving to London
After my diagnosis in 1997, I got on with my life, essentially ignoring the fact that that I had PNH.
This included moving to London in 2001 to travel and work (with the benefit of an English ancestry visa). I embraced all the opportunities that London offered including working very long hours in law firms and travelling as much as I could.
I was slightly bemused when I would attend some outpatient appointments to find an audience of three consultants from around the world asking me whether the colour of my urine was "more of a merlot or a pinot noir colour?" It seemed we were all learning from each other!
In 2009, a treatment for PNH was licensed in the UK which is delivered by two weekly infusion into the vein and works by blocking the complement part of the immune system which attacks our deficient red blood cells. This was life changing for patients and allowed life expectancy to return to that of a healthy person.
In 2012 having become dependent on regular transfusions of red blood cells, I qualified for this treatment (which in my case) took away practically all my symptoms as well as the constant threat of blood clots.
However, the decision to start this treatment (which took me 18 months to make) was not without personal toll. Unfortunately, PNH patients in New Zealand (and a number of other countries) do not currently have access to this treatment due to its cost and once a patient starts taking it, they cannot stop without increasing the risks inherent to the disease. My decision to start treatment effectively exiled me from my homeland and my immediate family for the foreseeable future. This is in no way a complaint as I know there are hundreds of PNH patients around the world who would give anything to take my place, I am just explaining the wider context.
As a result of treatment, I can run for a bus without getting out of breath. I am not woken in the night with stomach pain, I don't have to wait until lunchtime to eat my breakfast because it gets stuck in my esophagus, I no longer fear getting the flu or food poisoning in case it sends me into hospital with a hemolytic crisis. My colleagues will no longer be able to mistake my jaundiced face after a week as an inpatient, for a ski tan!
Change in direction
Unsurprisingly, this transformation in my quality of life changed my priorities. It inspired me to do something valuable with my newfound health which many PNH patients around the world are literally dying to have. I changed my career path and now support and facilitate publicly funded researchers at Imperial College London, to involve patients and the public in their research (which they are mandated to do). I am also Chair of PNH Support in my spare time.
I established PNH Support in 2015 as a membership organisation for those living with PNH (and their families) in England, Wales and Northern Ireland. Scotland has its own group called PNH Scotland.
Although PNH patients in the UK are in the privileged position of having access to treatment, I recognised there was a need for our community to have an independent platform from which to legitimately engage with the relevant stakeholders in our world.
Of equal importance was the need for a platform through which we could provide peer-to-peer support to each other. We currently have approximately 100 members made up of patients, family members and carers and our closed Facebook group has an even larger membership and provides a place where patients and their carers can troubleshoot, brainstorm, empathise and support each other.
One thing is very clear, nothing replaces being able to talk to someone who has had similar experiences to you. We hold regular regional meetings as well as a biennial national patient and family conference. The charity is run by volunteers and relies on donations and grants to function.
In 2015, I completed a course delivered by the European Patients Academy for Therapeutic Innovation (EUPATI), on the medicines research and development process. This armed me with the knowledge and a European network of peers, to be able to engage the relevant stakeholders in seeking the involvement of patients in as many stages of the medicines research and development process as possible. It continues to be a long road, requiring much culture change, but pharmaceutical companies are starting to realise the value patients can bring to developing the right therapy for the relevant unmet need. It is essential to collaborate with patients throughout the process (and as early as possible), rather than seeing patients merely as ‘end users’ of their products.
I am now very active in European patient advocacy and am one of six patient representatives on EuroBloodNet (the European Reference Network) for rare haematological disorders. I am also a member of the European Haematology Association (EHA) task force for the fair pricing of drugs. In 2018, I was invited to give the patients’ perspective in a session on ‘real world evidence’ at the EHA Congress in Stockholm. Together with other PNH patient organisations from around Europe and the world, PNH Support is in the process of forming a PNH Global Alliance in order to collaborate on common priorities and challenges for the benefit of all our patient communities.
Blogs and news are for information only and do not form the basis of medical advice. Patients should always seek the guidance of their medical team before making changes to their treatment. Views expressed are not necessarily the view of Rare Revolution team or NRG Collective Ltd.
What is parahemophilia?
It is commonly known as Factor V deficiency (FDV) and is a clotting (or coagulation) disorder where a specific protein is missing from the blood so that injured blood vessels cannot heal in the usual way.
The Factor V protein is a catalyst, accelerating the process by which prothrombin is converted to thrombin, the initial step in clot formation. FDV is usually inherited in an autosomal recessive fashion, meaning both parents must carry the gene to pass it on to their children; it affects men and women equally.
The signs and symptoms of the condition
It can begin at any age, however, in the most severe cases it is apparent in childhood. It commonly causes nosebleeds; easy bruising; bleeding under the skin; bleeding gums and prolonged excessive bleeding for example after surgery. Women can have prolonged menstrual bleeding (menorrhagia). Bleeding into joint spaces (hemarthrosis) can also occur, although it is rare. Severely affected individuals have an increased risk of bleeding inside the skull (intracranial hemorrhage), in the lungs (pulmonary hemorrhage), or in the gastrointestinal tract, which can be life-threatening.
Great Ormond Street Hospital for Children
NIH U.S National Library of Medicine
My life with parahemophilia
When I was 8 months old, I fell from the bed which resulted in a cut on my lower lip, causing profuse bleeding. At that time, doctors were not yet aware about hemophilia and its treatment. When my bleeding did not stop, I was brought to the KEM Hospital in Mumbai.
My childhood was never normal. I was not allowed to play outdoors with my friends. When I was four-and-a-half years old, I fell down the stairs and had a bleed on the brain. I was on the verge of death. Doctors in my city refused to handle my case and again, I was taken to the KEM Hospital in Mumbai. The brain bleed affected me, I started to have seizures and I stammered when I talked. I was then referred to a neurologist and for six years placed on medication.
My schooling was carried out under the care of my teachers and principal, after my father gave them guidance and instructions about hemophilia. My principal used to hold my hand and make me sit beside her during lunch break, so that I didn’t run and go and play with friends.
My involvement with the hemophilia community - helping to educate and raise awareness
My father became President of the Hemophilia Society Ahmedabad Chapter in 1999. He continues to serve and work with the hemophilia community. I joined the executive committee of this society in 2002. Many challenging circumstances have come into my life, but my work with the bleeding disorders community makes me feel more confident and independent.
The organisations within the bleeding disorder community are making important strides in addressing women and bleeding disorders. My mission is to find other women who are struggling with hemophilia or other bleeding disorders in my community. I want to educate and acknowledge them with respect, making sure they know “women can be the bleeders too.” I want to show women how magnificent they are, and to inspire them to step up and grab the life they’ve dreamed about with both hands.
A few months ago, I had an allergic reaction to my treatment of fresh frozen plasma, a plasma protein allergy. My hematologist said there is no remedy. I would be lying if I said that I am not worried, grinding my teeth, and flying into rages. Recently on 14th November, I got acute pain due to an ovarian cyst, but I was afraid of having an FFP transfusion, so I took oral medication. This was not a major pain, but I am afraid what to do in case of a major episode. This is my medical condition.
Dealing with any chronic illness can be anxiety-inducing and isolating when others don’t understand. It is very discouraging when we people with such deficiencies can no longer live a ‘normal’ life, but we ‘look normal’ to the world. Due to hemophilia I face many personal problems in my life, but I face them with strength and I am focused on making my future bright.
Since 2013 I have been working voluntarily for the Hemophilia Federation (India) in communications, heading the women’s group. The federation is affiliated to the World Federation of Hemophilia who are based in Montreal, Quebec.
I was the girl who was not allowed to travel alone. Even though there is no factor 5 concentrate available and there is only FFP treatment, I have travelled solo to the UK, US and the Philippines, attending meetings and congresses on hemophilia.
There is a lot going on right now in life. But we (rare factors deficient) must make our self-care a priority. In order to be useful, and in order to create the world we want to live in, we must look after ourselves. My hope for the future is to be an example to other female bleeders, to strive and help others.
Let's shine a light on patients with rare bleeding disorders and demonstrate the needs and concerns.
Great Ormond Street Hospital for Children
NIH U.S National Library of Medicine
Hemophilia Federation India
The Hemophilia Society (UK)
National Hemophilia Foundation (US)
World Federation of Hemophilia
Blogs and news are for information only and do not form the basis of medical advice. Patients should always seek the guidance of their medical team before making changes to their treatment. Views expressed are not necessarily the view of Rare Revolution team or NRG Collective Ltd.
As the newest member of the Rare Revolution team I have just attended my first conference, the Festival of Genomics at the Business Design Centre in London.
I have to confess when I was first asked if I could attend, my immediate reaction was “Yes!”, quickly followed by grabbing my phone to search online and find out what exactly a festival of genomics is all about.
As a newbie to the world of ‘rare’ I can see I have a lot to learn, grappling with unpronounceable medical terms and breaking them down to understand what it all means is an exciting new challenge. Attending this conference gave me my first opportunity to get out there and start hearing from, and meeting people involved in the healthcare industry and finding out what they are doing.
The morning started with a well-attended and insightful keynote speech from Professor Dame Sue Hill, Chief Scientific Officer, NHS England. The topic was: The NHS Lays the Foundation to Enhance Their Long-Term Strategy. Some of the areas Dame Sue Hill discussed were harnessing technology to address gaps in care quality, inequalities and sustainability; improving outcomes through personalised medicine; the transition to future care; challenges in delivery; the evolution of NHS genomic testing and the ongoing development of NHS genomics.
I also attended a panelled discussion on The Role Patients Play in Controlling Their Own Health and Care. The Moderator was Dr Anna Middleton, Chair, Association of Genetic Counsellors and Nurses.
The panellists were:
- Dr Lorraine Cowley, Principal Genetic Counsellor, Institute of Human Genetics, Newcastle Upon Tyne Hospitals, NHS Foundation Trust
- Dr Ana Beleza, Consultant in Clinical Genetics and Genomics, Guys and St Thomas’ NHS Foundation Trust
- Dr Jillian Hastings Ward, Chair of the Participant Panel, 100,000 Genomes Project.
The discussion centred on genomics testing and the ethical implications for patients, their families and how data is used and shared. The panellists talked about the importance of empowering patients, that they know how their data is used, and that they understand the risks and benefits of testing.
One of the panellists, Dr Jillian Hastings Ward, was enrolled along with her husband and son in the 100,000 Genomes Project. For the first few months of their son Sam’s life he appeared to be in good health, however his parents noticed he wasn’t making visual contact and they found out that he was blind. They also learnt that he wasn’t progressing intellectually.
After his diagnosis they were told about a pioneering scheme, the 100,000 Genomes Project. The sequencing of 100,000 genomes of individuals affected by rare disorders or cancers. The family took part and their DNA was sampled, each of their genomes, their entire complement of genes were then sequenced. They found that Sam had a fault in the gene Grin-1, which is a rare mutation that causes moderate to severe intellectual disability, low muscle tone, and in some cases seizures.
Hearing from someone in the medical profession with their own personal experience of a rare condition it struck me that so many people in the UK and in deed across the world have been touched in some way by a rare condition. A conference like this brings people together to share their experiences, and through collaboration, knowledge and experience we can empower individuals, making them feel less isolated, in the knowledge that there are others out there, who although do not necessarily have the same condition, are going through similar experiences and frustrations. It also helps to build a healthcare service that better services the patient and advances the care and treatment available to us all.
Rare Revolution Editor