One family's history of the rare condition Fabry disease through the generations

ShireIn recognition of International Fabry Awareness month, Shire has released the trailer for Our Fabry Family Tree, a short film series featuring a family who were unknowingly affected by Fabry disease for generations before genetic analysis shed light on a diagnosis of the rare condition.

Made with members of the family, the MPS Society, healthcare professionals at The Royal Free Hospital in London, UK, along with renowned genealogist, Dr. Nick Barratt, best known for his work on television’s Who Do You Think You Are?, Our Fabry Family Tree traces the family's story of Fabry disease using a combination of Pedigree Analysis (a specific form of genetic family mapping) and traditional ancestral research.

Our Fabry Family Tree follows Nicola, a Fabry patient, telling the story of her path to diagnosis, as well as the stories of her family members living with Fabry disease. It also traces the Fabry gene and explores how the condition affected previous generations of her family.

"I feel that having Fabry disease does not stop me from living my life." said Nicola. "However, for me a really important step was understanding my family history and the impact of Fabry disease on it."

Rare diseases like Fabry disease are often severe and the impact on families is profound, affecting life choices like where to work, having children and psychological wellbeing.(1-4) The gene responsible for Fabry disease, also known as Anderson-Fabry disease, can be passed on for several generations, thereby potentially affecting many close and distant relatives of a Fabry patient.(4,6)

Understanding family history and conducting Pedigree Analysis, or genetic testing, is one of the first and most significant steps in resolving under- or mis-diagnosed Fabry disease.(6) Misdiagnosis of Fabry disease is common, particularly where there is no known case within a family, and there is often a substantial delay (up to 20 years or more) in diagnosis.(1,7-8)

"The diagnosis of a hereditary condition like Fabry disease can have a huge impact on patients' lives and family relationships. It is important we improve early diagnosis to help patients and their families manage this disease to improve their quality of life. Pedigree Analysis is a tool to support identification of patients who are at risk of developing the complications of the disease and is vital in helping patients better understand the disease" said, Christine Lavery, Chief Executive, MPS Society and President, Fabry International Network.

"I found it fascinating tracing Nicola's family history and have seen how valuable it has been for her to further understand her medical history and connection to other family members. I think more people should have the opportunity to trace their family history, especially if they are affected by hereditary conditions as it really helps people to manage future decisions" said, Nick Barratt, genealogist.

About Shire
Shire enables people with life-altering conditions to lead better lives. Our strategy is to focus on developing and marketing innovative speciality medicines to meet significant unmet patient needs.

We focus on providing treatments in Rare Diseases, Neuroscience, Gastrointestinal, and Internal Medicine and we are developing treatments for symptomatic conditions treated by specialist physicians in other targeted therapeutic areas, such as Ophthalmics.

About Fabry Disease
Fabry disease is an X-linked inherited genetic disease and part of a group of rare diseases known as lysosomal storage disorders (LSDs).(9-11) It is caused by the deficiency, absence or incomplete functioning of an enzyme called alpha-galactosidase A.(5,9) Over time this can result in the accumulation of a waste substance called globotriaosylceramide (Gb-3) in cells, causing progressive damage to tissues and major organs.(5,7,11-13) Fabry disease equally affects all ethnic groups, and has an estimated birth prevalence of approximately 1:40,000 - 117,000 in the general population.(7,11,14) Historically, it has been considered to affect only men, but heterozygous females may experience all the signs and symptoms of Fabry disease.(11,13,15-21)

Shire's Commitment to Fabry Disease
Shire is committed to helping raise awareness of Fabry disease, including implementing initiatives to support an improved diagnosis journey for everyone affected by this rare condition. It’s our responsibility to help establish long-term solutions to improve the diagnosis pathway, including working in partnership with treating physicians, specialists, patient advocacy organizations and countries' health systems.

About Pedigree Analysis
In partnership with the patient and medical community, Shire initiated a Pedigree Analysis Call to Action aimed at raising awareness among healthcare professionals and people diagnosed with rare diseases of the importance of a family history evaluation. Under the initiative, Shire also offers information for healthcare professionals on genetic testing.

1. Mehta A, et al. Fabry disease: a review of current management strategies. QJM. 2010;103:641-59.
2. Baehner et al. Enzyme replacement therapy in heterozygous females with Fabry disease: Results of a phase IIIB study.J Inherit Metab Dis 2003;26:617-627.
3. Gold KF, et al. Quality of life of patients with Fabry disease. Qual Life Res 2002;11:317-327
4. Germain DP. Fabry disease. Orphanet Journal of Rare Diseases 2010;5:30
5. Brady RO, et al. Enzymatic Defect in Fabry's Disease - Ceramidetrihexosidase Deficiency. N Engl J Med 1967;276:1163-7.
6. Laney DA, et al. Diagnosis of Fabry disease via analysis of family history. J Genet Couns. 2008;17:79-83.
7. Mehta A, et al. Natural course of Fabry disease: changing pattern of causes of death in FOS - Fabry Outcome Survey. J Med Genet. 2009;46:548-52.
8. Beck M. Demographics of FOS - the Fabry Outcome Survey. In: Mehta A, et al, eds. Fabry disease: perspectives from 5 years of FOS. Oxford: Oxford PharmaGenesis, 2006; chapter 16.
9. Fuller M, et al, Epidemiology of lysosomal storage diseases: an overview in Mehta A, et al eds. Fabry Disease: perspectives from 5 years of FOS. Oxford: Oxford PharmaGenesis, 2006; Chapter 2.
10. Vellodi, A., Lysosomal storage disorders British Journal of Haematology, Volume 128, Issue 4, pages 413-431, February 2005.
11. Desnick RJ, et al. Eng CM. α-Galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular basis of inherited disease. 8th edn. New York: McGraw-Hill. 2001;p.3733-74.
12. Kampmann C, et al. Onset and progression of the Anderson-Fabry disease related cardiomyopathy. Int J Cardiol. 2008;130:367-73.
13. Zarate YA, Hopkin RJ. Fabry's disease. Lancet. 2008;372:1427-5
14. Meikle PJ, et al. Prevalence of lysosomal storage disorders. JAMA. 1999;281:249-54.
15. Hoffman B, Mayatepek E. Fabry disease – often seen, rarely diagnosed. Dtsch Arztebl Int. 2009;106:440-7.
16. Spada M, et al. High incidence of later-onset fabry disease revealed by newborn screening. Am J Hum Genet 2006;79:31-40.
17. Whybra C, et al. Anderson–Fabry disease: clinical manifestations of disease in female heterozygotes. J Inherit Metab Dis. 2001;24:715-24
18. Lidove O, et al. Effects of enzyme replacement therapy in Fabry disease-a comprehensive review of the medical literature. Genet Med. 2010;12:668-79.
19. Ries M, et al. Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease. Pediatrics. 2006;118:924-32.
20. Wang RY, et al. Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life. Genet Med. 2007;9(1):34-45.
21. Deegan PB, et al. Natural history of Fabry disease in females in the Fabry Outcome Survey. J Med Genet. 2006;43(4):347-52.

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