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Welcome to Rare2Aware

Bringing hope to people with rare diseases

There is a place for everyone in our rare disease community: Rare2Aware brings together patients – those seeking diagnosis, newly diagnosed or living with their disease for a long time – their family members, caregivers, healthcare professionals, and advocates.

Be a champion for people with rare diseases, help raise awareness through Rare2Aware and learn more about these rare diseases. Every day we all face and overcome incredible challenges. We think it’s time we told the world what we all achieve.

 

Welcome to Rare2Aware

Bringing hope to people with rare diseases

 

There is a place for everyone in our rare disease community: Rare2Aware brings together patients – those seeking diagnosis, newly diagnosed or living with their disease for a long time – their family members, caregivers, healthcare professionals, and advocates.

Be a champion for people with rare diseases, help raise awareness through Rare2Aware and learn more about these rare diseases. Every day we all face and overcome incredible challenges. We think it’s time we told the world what we all achieve.

 

Join the rare disease community

Get involved with Rare2Aware.

Share your stories. Be part of the conversation. Contact us via social media.

Learn about some of these rare diseases

Worldwide, an estimated 350 million people live with one of more than 7,000 recognised rare diseases.1 Most of these diseases are genetic and start at birth or in childhood.2

Fabry disease

Fabry disease is a progressive genetic disorder that affects multiple organ systems and leads to major organ failure.3 It is caused because a particular enzyme, which is in charge of breaking up the body’s waste substances, is missing or doesn’t work as it should.4

Gaucher disease

Gaucher disease is a rare genetic disorder caused by the lack or complete absence of an enzyme used to break down waste lipids from cell membranes. These lipids accumulate in cells and specific organs and cause e.g. bruising, anaemia, fatigue and enlargement of the liver and spleen. It is an inherited disease, and so Gaucher patients often find that someone else in their family has the disease or is a carrier.5

Hereditary angioedema (HAE)

Hereditary angioedema, or HAE, is a rare genetic condition that causes spontaneous and unpredictable swelling attacks in different parts of the body. It can be extremely uncomfortable and even life threatening.6

Hunter syndrome (MPS II)

Hunter syndrome, also known as mucopolysaccharidosis type II (MPS II), is a rare genetic disease that primarily affects boys. It can affect any part of the body and causes a number of signs and symptoms.5

Hypoparathyroidism

Chronic hyoparathyroidism is a rare disease characterised by low levels of serum calcium and little or no parathyroid hormone (PTH) in the body. Patients with chronic hypoparathyroidism may experience a variety of symptoms caused by hypocalcemia and can potentially suffer from long term complications.8

Short Bowel Syndrome (SBS)

Short Bowel Syndrome (SBS) is a rare, gastrointestinal disorder caused by the loss of all or some of the small intestine.9 SBS prevents absorption of adequate amounts of fluids and nutrients resulting in malnutrition, diarrhoea and dehydration.10

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About Rare2Aware

Rare2Aware is an online initiative, which was conceived, developed and funded by Shire, now part of Takeda, the global biotechnology leader serving patients with rare diseases and specialised conditions. The content of this initiative is intended for a general audience outside the United States.

The information provided on this site is available to the public for information purposes only; it should not be used for diagnosing or treating a health problem or disease. It is not intended to substitute consultation with a healthcare provider. Please consult your healthcare provider for advice.

To get in touch with us, contact us via Facebook, Twitter or Instagram. 

References

  1. Groft, S. Posada de la Paz, M. Taruscio, D. (2017). Rare Diseases Epidemiology. 2nd Edition. Vol. 1031. DOI: 10.1007/978-3-319-67144-42.
  2. Rodes, J. (2005). Rare Diseases: Understanding this Public Health Priority. EURODIS.3.
  3. Mehta, A. Clarke, JTR. Giugliani, R. et al. (2009). Natural course of Fabry disease: changing pattern of causes of death in FOS – Fabry Outcome Survey. Journal of Medical Genetics. 46 (8): 548-552.
  4. Germain, D. (2010). Fabry disease. Orphanet Journal of Rare Diseases. 5: 30.
  5. Grabowski, GA. (2008). Phenotype, diagnosis, and treatment of Gaucher’s disease. Lancet. 372 (9645): 1263-71.
  6. Genetics Home Reference. Hereditary angioedema. Available at: https://ghr.nlm.nih.gov/condition/hereditary-angioedema [Accessed 17 Jan. 2019].
  7. Wraith, J. Scarpa, M. Beck, M. et al. (2007). Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. European Journal of Pediatrics. 167 (3): 267-277.
  8. Bollerslev, J. Rejnmark, L. Marcocci, C. et al. (2015). European Society of Endocrinology Clinical Guideline: Treatment of chronic hypoparathyroidism in adults. European Journal of Endocrinology. 173 (2). G1-G20.
  9. Kelly, DG. Tappenden, KA. Winkler, MF. et al. (2014). Short bowel syndrome: highlights of patient management, quality of life, and survival. The Journal of Parenteral and Enteral Nutrition. 38: 427–437.
  10. Jeppesen, P. (2014). Spectrum of Short Bowel Syndrome in Adults. Journal of Parenteral and Enteral Nutrition. 38 (1_suppl): 8S-13S.

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