Sharon Burstin of Melbourne, Australia was diagnosed with Refsum Disease at the age of 51 after genetic testing to work out the cause of her RP ( Retinitis Pigmentosa ) which she was diagnosed with approximately 40 years earlier.

Sharon had so many of the symptoms of Refsum, but nobody ever put the pieces of the puzzle together. Since birth, Sharon has had unusual length fingers and toes, no sense of smell, poor balance, pupils that refuse to dilate and more recently some hearing loss and severe arthritis in her right knee which became so painful that she needed a total knee replacement.

Sharon is extremely passionate about increasing awareness of Refsum Disease amongst ophthalmologists and the medical world at large with the hope of ensuring early diagnosis so that the correct dietary and lifestyle choices can be made to slow down the progression of vision loss and other symptoms.

Kristie, a Cornell University graduate and Global Head of AML Operations at TD Bank, embodies resilience and leadership. With over 25 years of experience, she excels in spearheading multi-million dollar initiatives and guiding extensive teams. Beyond her corporate role, Kristie is a devoted wife, mother of four, and a passionate athlete, known for her love of open water swimming and her achievements as an Ironman competitor.

In 2017, Kristie's journey took an unexpected turn when she was diagnosed with Refsum Disease after two years of medical uncertainty. This revelation ignited her resolve to advocate for improved therapies and ultimately a cure. Building on her Ironman spirit, Kristie launched a new race—the race to find a cure. In 2019, she founded the Global DARE Foundation, dedicated to accelerating research for this rare disorder. Kristie's story exemplifies resilience, determination, and the belief that anything is possible.

Bei Kerstin wurde im September 2022 das Refsum Syndrom entdeckt.
Die typischen Symptome von Refsum traten bei ihr in verschiedenen Lebensabschnitten ein.

Die Zehenfehlstellung war seit Geburt, Retina Pigmentosa wurde mit Mitte 20 diagnostiziert, Schwerhörigkeit mit Mitte 30 und mit Anfang 40 kamen neurologische Probleme wie Gleichgewichtsprobleme und Stabilitätsprobleme mit hinzu sowie der Verlust des Geruchssinns. Trotz der vielen Eindeutigen Symptome wurde Refsum erst mit 49 Jahren diagnostiziert.

2015 wurde fälschlicherweise eine andere neurologische Erkrankung diagnostiziert.
Sie hat auch noch ein Refsum untypisches Symptom der Niereninsuffizenz der Stufe 3 von 4.
Mit bekannt werden hat Kerstin sofort Global DARE kontaktiert, um sich selbst über die Krankheit zu informieren.

Da es in Deutschland kein Ärztenetzwerk für das Refsum Syndrom gibt, will sie ein Netzwerk für Betroffene aufbauen. Wenn es mehrere Patienten bei einem Arzt bzw. Uniklinik gibt, stärkt das die Kompetenz der Ärzte im Umgang mit dieser Erkrankung. Weiterhin soll das Netzwerk helfen betroffene in Deutschland mit den aktuellen Therapiemöglichkeiten und Abrechnungsmöglichkeiten mit der gesetzlichen Krankenkasse zu informieren.

Neben ihren Gesundheitsherausforderungen arbeitet Kerstin noch für die größte europäischen Einzelgewerkschaft für Arbeitnehmer und organisiert dort Fortbildungen für betriebliche Interessenvertreter im Bereich von Unter- und Oberfranken.

English:

Kerstin received her Refsum Disease diagnosis in September 2022. The typical Refsum symptoms presented at various stages in her life.

She was born with shortened toes, Retinitis Pigmentosa was diagnosed in her mid-20s, hearing loss in her mid-30s and in her early 40s neurological problems such as balance and unsteadiness, as well as loss of sense of smell presented. Additionally, she has renal insufficiency stage 3, an atypical symptom of Refsum.

Despite the many classic symptoms, Refsum was not correctly diagnosed until she was 49 years old. In 2015, she was even misdiagnosed with another neurological disorder. After receiving her diagnosis, Kerstin was immediately in contact with the Global DARE Foundation to learn more about the disease.

Since there is no doctors' network for Refsum Disease in Germany, she aspires to build a network for those impacted. If there are several patients under the care of a single doctor or university hospital, this strengthens the competence of the doctor in managing the disease. Furthermore, the network should help to inform those impacted in Germany with the current therapy options and reimbursement opportunities through the statutory health insurance.

In addition to her health challenges, Kerstin works for the largest European trade union for employees and organizes continued training for company stakeholders in the south of Germany.

Susie Breuer of Sydney, Australia was diagnosed late with Refsum at the age of 43 after developing full blown symptoms of Refsum after weight loss. The symptoms which led to diagnosis including poor balance with weakened muscle in her legs to the extent she was not able to stand without the aid of a pick-up frame and peripheral neuropathy particularly in her feet. At that time Susie was hospitalized for about 2 months and it took about 18 months for her phytanic acid levels to reduce to allow some improvement in her neuropathic symptoms and to be able to walk with a walking stick.

In hindsight Susie had classic signs of Refsum since childhood, including Retinitis Pigmentosa, no sense of smell and shortened 4th short and in her 20s she started to commence hearing loss. Unfortunately the doctors considered each symptoms separately and did not consider whether some of Susie’s symptoms may collectively be a feature of a genetic condition.

Susie obtained a Bachelor of Economics and Law and Masters in Law and has been working as a solicitor for about 20 years.

Susie volunteered to be a DARE Ambassador for Australia because raising awareness about Refsum in the medical profession and the community is an important pathway to early diagnosis for other patients. This means that patients can adopt the Refsum diet early and exercise other precautions such as monitor weight loss to prevent deterioration of symptoms and maximize quality of life."

Alan grew up in Forest Hills, NY and attended the State University of New York at Buffalo to study history and anthropology. His first job out of college was in sales at the DataEase company in Trumbull, Connecticut, where he sold database software to companies all over the United States. Alan moved from DataEase to QMS and eventually, he was hired by his biggest customer, Xerox Corporation, which would turn out to be Alan’s last job. In 2003, Alan was declared legally blind due to Retinitis Pigmentosa, and stopped working because he could no longer drive to visit his customers. Shortly thereafter Alan started to advocate for the Blind and found himself involved in policy decisions. He joined the VSB as a board member, where he worked to help people understand the needs of the blind. In 2016 Alan discovered that Refsum Disease was the cause of his vision and hearing loss. Alan will now bring his long time advocacy and board experience as a Country Ambassador and Director of Global DARE Foundation.

Mark Liquorish lives in the UK and was diagnosed with Refsum 40 years ago. Because Refsum disease is an inherited condition, his diagnosis triggered further investigation of the family which revealed his parents were second cousins and abrother who also had Refsum. Mark spent his career working in health care as a nurse and a Manager for the NHS. Now retired, despite his disabilities he is still able to support the community and is a Rotarian and Board member of a successful educational establishment.
Mark is strongly committed to improving the quality of lives of patients with Refsum disease. He is passionate about helping to raise the profile with clinicians and allied health professionals to ensure early diagnosis and treatment for patients. He wants to ensure the DARE message helps people, regardless of their country of residence, get an improved quality of life and also access to good universal medical care.

Michel Veys of Aalter, Belgium was diagnosed with Refsum Disease at the age of 36 although the first symptoms appeared at the young age of 10. Unfortunately, like many people with a rare disease, it took several years for a proper diagnosis to be made and by then many of the more debilitating signs of Refsum Disease were already present.

Following completion of his formal education, Michel worked as an administrative assistant in the local hospital and retirement home. After 25 years of service his advanced Refsum symptoms forced him in to early retirement in 2017. Since then, Michel has dedicated countless hours of volunteer time for the Family Association Services in his community.

He recently accepted the DARE Foundation Ambassadorship for Belgium, in order to contribute to the mission for a better quality of life for people impacted with Refsum Disease.

Susan Kuranoff of Switzerland is a graduate of McGill University, Montreal. Over 20 years ago she was diagnosed with Refsum Disease after a relatively short journey to an accurate diagnosis. She is one of 2 children impacted in her family. Despite partial disability, she enjoys a career in clinical trial management at Novartis Pharma. With the purpose of uniting Refsum patients and their families from far flung places around the world, Susan founded the first online Refsum community on Yahoo! Groups to enable those impacted with the condition to learn about the disease, seek support and connect with others.

In addition to her role as Vice President of the Foundation, Susan is a passionate part of the Ambassador program with the goal of raising awareness, increasing knowledge and connecting patients, mainly in Switzerland and other German speaking countries, for the benefit of all those impacted by Refsum Disease.

Bob was born in 1948 in country New South Wales and moved to Queensland aged 5. He grew up in a family with a profoundly sick Sister and other unwell family members. He learned to support others and developed a strong sense to fight the injustices and inadequacies of the medical and community systems. He was educated at tertiary level and was an active sportsman.

Bob nursed his 11-year son Brendan whilst dying from ALD. He saw a rare disease health system that was not so much broken as never built. To this end he founded the Leukodystrophy Resource & Research Organisation Inc. (LRRO) to create a functional caring scaffold from which the absolute needs of the Australasian Leukodystrophy families could be understood, solutions developed, refined, and enacted. His work has expanded across the world and he is an active member of the global leukodystrophy community.