Women's day 2019

On International Women’s Day we would like to recognise and bring awareness to those females whose lives are affected by rare disease(s)Some rare diseases are seen only in women such as Turner syndrome and Rett syndromeOther rare diseasedisproportionately affect more women than men e.g Lupus, Hashimoto’s Thyroiditis and Lymphangioleiomyomatosis (LAM). In addition to those disorders affecting women directly, there are those that introduce the challenge of maternal inheritance such as X-linked Hypophosphatemia (XLH). As with any Rare Disorder, not alone is the patient affected but also her family, her friends and her care providers.

Lupus is a rare, autoimmune disease characterized by immune system malfunctions, provoking the immune cells to attack the cells of the body and destroys them. The most common form can affect many parts of the body, including the skin, joints, lungs and kidneys. Nine out of ten lupus patients are women, around 90% of cases concern women of childbearing age (15-40 years old).

 We are very grateful to and would like to recognise the efforts and attention given each day by doctors, nurses and clinical research teams taking care of rare disease patients and their families. Furthermore, we would like to acknowledge those women involved in ‘bench to bedside’ research, whose aims are to understand the biology of rare diseases, and to discover new and improved treatments.  And last but not least we recognise the invaluable support offered to the patient and her family via patient organisations.

Understanding the impact of rare diseases on women and the ‘many hats’ that they wear will serve to provide better support services for patients and their families with the aim to improve the lives of them and those around them.

At Medialis we are prioritising the lived experiences of patients with rare diseases, with projects including

  • Investigating disease burden and Quality of Life in an upcoming project to begin recruitment in May 2019.

  • Co-organising a Patient Information Day for XLH patients and families in Birmingham (see invitation below), to promote the exchange of information between medical doctors, nurses, researchers and

 

 

 For the XLH PID invitation see link below:

We are looking forward to seeing you on the day

https://www.medialis.co.uk/about-medialis/non-profit/patient-information-day-xlh/

 

 

Image 1: XLH Inheritance pattern.

https://ghr.nlm.nih.gov/condition/hereditary-hypophosphatemic-rickets. NIH