Diagnosis: MPSI Scheie

Country: UK

What makes this individual special, unique and a role model for others:

Joanna has had more than her fair share of adversity. At the age of 10, after several surgeries, she was diagnosed with MPSI Scheie disease. In 2003 Joanna lost her older brother in the Iraq war. During her school years, Joanna’s MPS caused her significant joint problems, and her liver and spleen steadily increased in size. At that time she was refused treatment for MPSI. She articulately addressed regulators and politicians on the impact of her disease which resulted in Joanna and other UK MPSI sufferers getting Aldurazyme.

Throughout these personal difficulties, Joanna showed considerable courage and never gave up her dream to go to university and live independently. Whilst disappointed at not achieving her goal at 18 to study to become a doctor, she secured a place at university to study radiography and is now enjoying her 2nd year as a radiographer and is looking towards promotion.

Joanna has just learnt that she has been accepted to study Medicine at the University of Warwick.

Proudest accomplishment:

Joanna’s proudest accomplishments are:

  • Campaigning for and securing funded ERT for UK MPSI Hurler Scheie and Scheie patients
  • Graduating from university
  • Finding her soul mate and marrying him in August 2008 surrounded by her family and friends
  • Living independently with her husband in their own home
  • Working as a radiographer, a job she loves
  • Managing home treatment for Aldurazyme

Joanna also feels proud that, as a more mentally and physically able MPS sufferer, she has taken on a role as a spokesperson for all those suffering from MPS diseases and their families, particularly those that feel they cannot or don't have a voice.

Words of wisdom about living with MPS:

Joanna says:

“MPS is a disease and it can be a burden and hellish to live with sometimes, but it can also be something that makes us who and what we are. MPS has brought me together with the MPS Society - who in my eyes are an extension of my family and who have always been there since my diagnosis.

My MPS makes me unique, it gives me my "MPS hands", my "always red cheeks", and lots of other things that make me me.

I have reached the point in my life where I am well enough to be holding a job and a household together – in my teenage years I never thought I’d get there! But by campaigning for and then persevering with the treatment, and always striving to life the life I wanted despite my MPS, I have got where I am today.”

Ayşe Nihan Uğuz