Take the new Rare Barometer Voices survey on rare disease patients’ experience of treatments and make your voice heard
Who can respond to the Rare Barometer Voices survey?
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
Last week I attended Findacure’s Drug Repurposing for Rare Diseases Conference at the RCN HQ in London. There were a wide of range speakers from patient representatives, medical professionals, a medical student, patient groups to pharma companies. This range of perspectives and some really inspiring collaborations highlighted what can be achieved by sharing and learning from the unique expertise and skills of each of these groups.
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.
Winner of The Student Voice essay
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.
Incentivising the repurposing of off-patent medicines
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.
After years of searching for a diagnosis, Jill Viles was diagnosed with Emery-Dreifuss Muscular Dystrophy (EDMD), a rare form of muscular dystrophy that affected her and some of her family. However, whilst Jill experienced muscle wasting from a young age, some of her siblings - who were also diagnosed with EDMD - experienced some increased musculature. A search for the cause of this difference in phenotypes led Jill to Congenica, whose clinical scientists found a shared mutation in SMAD7, a modifier gene involved in the TGF-β signalling pathway that may be the cause of the differing phenotypes (or ‘symptom’). This information is now been used by researchers in the University of Iowa to further research the underlying causes of EDMD.
Jill’s Early Life
Confirming the Diagnosis
Jill spent hours of her free time at university reading all the medical journals she could find on muscular dystrophy. One such article spoke of two brothers who had been diagnosed with Emery-Dreifuss Muscular Dystrophy, or EDMD - a rare form of MD characterised by muscle weakness and wasting, stiff joints, and heart-rhythm irregularities. Recognising the same symptoms she had experienced throughout her own life, Jill hypothesised that this may be the very same disease that she also suffered from. “It was like finding a picture of family” she later said, “and you just know they’re family.” Jill shared this hypothesis with her family. This led her father to visit a clinician for previously overlooked heart issues - another symptom of EDMD. Whilst reticent at first, the clinician agreed to fit a heart rate monitor for a day. At times, his pulse dropped below 30 bpm. He was immediately fitted with a pacemaker, saving his life.
It was like finding a picture of family
Jill later reached out to Italian researchers who were conducting a genetic study of EDMD who, after four years, finally gave her some genetic answers - she and her siblings had a mutation in the LMNA (or ‘Lamin A’) gene, a protein-coding gene linked to diseases that affect muscle and fat, including EDMD. This finally confirmed the cause of Jill’s condition, but it still did not explain her siblings’ differing symptoms; but years had passed, and Jill continued with her life. She got married and had a son – who did not share her condition – and the questions were left unanswered.
Congenica Joins the Quest for Answers
Years later, after hearing of Jill’s story on This American Life, Craig Taylor, VP of Business Development at Congenica, realised that his company may be able to help Jill in her quest.
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.
Samples from Jill and her siblings were processed
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.
Congenica’s expert team were able to explore Jill’s case in depth by using their diagnostic decision support platform, Sapientia. Sapientia provides a web-based platform for accessing genetic analysis tools, scientific literature and genetic variant databases. Like Jill, Congenica’s experts thought there might be an underlying genetic explanation for the different phenotypes seen within Jill’s family and aimed to sequence the genomes of Jill and her family members to discern if a second disorder was responsible for the different muscular phenotypes seen in the family. The Congenica team knew that finding causal variants can be challenging in families because siblings naturally share a large proportion of genetic variance, so knowing where to focus the search would be challenging.
Investigating with Sapientia
First, the team reconfirmed that Jill and her siblings had the LMNA mutation linked to EDMD. The diagram below shows this confirmation in Sapientia, with Jill and all 3 of her siblings sharing the same G -> C mutation in the gene.
A patient story of diaganosis and discovery
Next, the team explored variants that are present in Jill and her brother who do not display hypermusculature, but not present in her brother and sister who do, and vice versa, looking specifically at genes associated with neuromuscular conditions, including EDMD. But they did not identify any variants that would suggest a second disorder.
To confirm Jill’s diagnosis, the team applied a gene panel that sorted out genes linked to specific
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
The team member couldn’t help but draw parallels between the vast differences in musculature shown by Jill and her siblings. She questioned whether a similar mutation might be at play in humans and urged the team back home to explore mutations in the TGF-β pathway.
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.
The SMAD7 variant was also absent from a large population dataset (gnomAD) used as a reference
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.
The potential role of SMAD7 as a modifier gene continues to be explored as time goes on.Specifically, Dr. Lori Wallrath of University of Iowa is trying to discern whether the presence of this mutation is a situation unique to Jill’s family or if there are mutations in this gene present in others with EDMD, particularly those at the severe end of the spectrum.
You don’t see companies doing stuff like this. Congenica’s intervention led
Dr. Wallrath was inspired to reach out to Jill after hearing of Congenica’s gesture. She remarked, “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.”
Dr. Wallrath has developed Drosophila and mouse models to study over- and
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
If you would like to hear more from Jill herself, you can view our webinar, where Jill tells her story in her own words, and Congenica’s clinical scientists explain how they came to meet Jill, and find the potential modifier for her condition: https://www.congenica.com/webinar-discovering-missing-link-rare-disease-athlete/
1. Epstein D. The DIY Scientist, the Olympian, and the Mutated Gene: How a woman whose muscles disappeared discovered she shared a disease with a muscle-bound Olympic medalist. ProPublica. Originally published: January 15, 2016.
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.
The end of a five year clinical trial for AKU
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.
About alkaptonuria (AKU)
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.
About SONIA 2
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).
About the AKU Society
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)
Dr Shehla Mohammad MD, FRCP Clinical Lead for National CS/TTD has worked with Amy and Friends in conjunction with Guy’s and Thomas’ Hospital and NHS England to establish a multidisciplinary clinic for children and young people with 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 and her PNH diagnosis
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.
Not only has the prognosis for PNH patients changed dramatically since I was diagnosed but so has my personal trajectory. My motivation in driving forward patient advocacy in the UK and Europe for PNH patients, is to facilitate therapies being brought to market which will hopefully one day benefit (and be accessible to) as many PNH patients globally who need them. My wish is for all those who continue to suffer to have the same opportunity for a quality of life as has been my privilege.
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
Despite the challenges I have always been determined to complete my education. I graduated with a bachelor’s degree in Commerce and another bachelor’s degree in Education for Teaching. I also received diploma certificates in computer applications. I have worked as a teacher for seven years in a renowned school in my city. Currently I work with an IT firm as a quality assurance officer and content writer.
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.
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.
At the conference
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:
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.
The Albinism Fellowship is a charity that represents people with albinism living in the UK and Republic of Ireland. This year the charity celebrates its 40th anniversary.
Four years ago the Fellowship recognised it wasn’t doing enough to engage with people from black and Asian communities who have albinism. They began a new project and mission to improve support for their diverse community to become more inclusive.
How the Albinism Fellowship has been increasing black, Asian and ethnic minority ‘BAME’ diversity
The Fellowship’s Trustees recognised that the challenges faced by this section of the albinism community can sometimes be more intense than those faced by white people who have albinism; for instance, they have found these groups are increasingly likely to face prejudice, stigma and a lack of understanding from within their own communities.
This led the charity to focus efforts on following-up with contacts from black and Asian families. Trustees of the charity made efforts to meet face-to-face with people wherever possible and to really encourage them to come along to events.
There are now two parents of black and Asian children with albinism on the board of trustees, which has helped the charity to plan and be more inclusive to all members of the community. For example, it resulted in a family BBQ date to be planned around Ramadan, a time when many of the families would be fasting.
The Fellowship also used a large-one off donation to fund bursaries allowing families to attend the Fellowship’s residential conference in Derbyshire in 2017. This meant more black and Asian families were able to participate than ever before.
Another change was to the Albinism Fellowship’s basic information leaflet on albinism, which included incorporating new images from a diverse range of ethnic groups.
Grant funding from Breaking Down Barriers (BDB)
The charity is proud to have successfully applied for a £5,000 grant from BDB. BDB aims to strengthen the ability of patient organisations and support groups to develop supportive and inclusive services for individuals and families affected by genetic disorders, and to ensure that appropriate and accessible information is available. If you are interested in joining Breaking Down Barriers, or would like more information, visit the their website here.
The BDB funds will continue to help with the work and mission to improve the support provided for the Fellowships diverse community. It will go towards improving the Albinism Fellowship's website, to include a much better visual representation of the diversity of families and groups within the albinism community.
Adult & Family Weekend Conference 2019
Looking ahead to October 2019, when the Albinism Fellowship will be holding their next family and adults with albinism conference, the BDB grants will allow more people from the BAME community to attend. The Trustees are planning at least one session at the conference to be specifically aimed at black and Asian families. This will be run by two members, one from a South Asian background and the other an African background, both of whom have children with albinism.
Continuing to break down barriers
To increase awareness about albinism for people from black and Asian communities, as part of Jeans for Genes Day in September 2018, fellow member Precious and her family, from London, carried out a number of media interviews to explain what it is like to live with albinism. The Albinism Fellowship were incredibly grateful for the great work they did in helping to raise awareness.
An exciting future plan includes commissioning a short information and publicity video to raise awareness about the issues people in the BAME community with albinism face, and the support that the Fellowship can offer them. When the film is complete, the charity aims to use its large Facebook community and other social links to share the video and get the message out there of the support they can offer.
If you would like to know more about the Albinism Fellowship then please visit their website here.
Katrina Brooks aka Katty created her website Kattysterritory.com
about herself and living with Lupus
What is Lupus?
It's been ten years since Katty's diagnosis of the condition that makes the immune system misbehave and can affect any part of the body, it can be life threatening. Lupus is considered as a more common rare disease, but it is quite rare for children to be diagnosed with it.
Like many less known conditions Lupus can be hard to treat, and because many of the symptoms cannot be physically seen, often young people like Katty with Lupus (and other invisible illnesses), feel like they are ignored and disbelieved due to the lack of physical signs of being unwell. It can be really hard coping with any long-term illness, but one of her aims is to raise awareness and share her experiences so that she can help other people.
Living with Lupus as a child and young person
Creating her website has given her an outlet to describe her experiences and living on her terms with Lupus, it has also given her a platform in advocating and raising awareness for young people living with long-term health conditions.
Katty talks about when you have any long-term illness needing your family, doctors, school, and other agencies to work with you to make sure you remain well. But even more importantly is making sure that you have a voice, and any decisions involve
you. Sometimes this is easier said than done, particularly when you are a child!
Often as a child growing up she found her voice wasn’t heard. Everyone focused on making her better, whilst Katty understood that it was for her benefit, at times it didn't feel like that. As she became a teenager she began to feel more in control because questions were directed to her. Katty felt more confident to say 'no' to things she wasn't happy about with encouragement from the people closest to her.
To share her experiences, Katty is also involved in Great Ormond Street Hospital's young peoples forum (YPF), which helps to influence and shape the services they provide. Katty is actively involved in various Patient Participation and involvement projects, in an aim to represent a young patient perspective in developing and delivering NHS services. Katty writes articles for Lupus UK, the national organisation for patients and families affected by Lupus. She admits that this work can be tiring as she has chronic fatigue, but knowing she can make a difference makes her continue.
For more information
Visit Kattyterritory.com to find out more
Katty was featured in issue 008 of Rare Revolution, read the article here
Rare Revolution Editor