Homocystinuria Patient and Caregiver Survey

Experiences of diagnosis and beyond. The aim of the survey was to better understand the quality of care and treatment, access to information and quality of life outcomes for individuals affected by Homocystinuria and their families.

Demographics Majority of respondents were from Continental Europe and Australia (54% combined); Minority of respondents (24%) were affected adults; the remainder were caregivers (76%)

Age and type of diagnosis? Over 50% Have CBS Nearly 30% between 5 & 9

Diagnosis

Diagnosis cont.

High Level of Satisfaction Diagnosis cont. 80% Reported Difficulty High Level of Satisfaction

Access to information B A

Treatments Participants identified, to varying degrees: Arguing with their child about taking formula; Difficulty taking formula; Difficulty eating out or doing something unplanned due to formula.

Diet 25% of respondents felt sad either most of the time or always when diet was restricted; Only 10% of respondents did not find it challenging to weigh/estimate protein in food; Only 11% identified that it was never time consuming to prepare low protein meals; The majority wanted to eat things others could eat. 42% of respondents did not have access to low protein foods.

Majority Express Difficulty Patient impacts Majority Express Difficulty

Clinician perspective Moving on from the patients we more recently asked the clinicians what, in their opinion, were unmet needs. Respondents were all collaborating partners with E-HOD. 18 respondents Clinician perspective

Clinician Response A E C D F B A: Clinical guidelines are necessary; B: Need for alternative treatments; C: Greater information and awareness; D: ‘Red flags’ are being communicated; E: Information for patient community; F: Diagnostic gap. A E C D F B

The current situation is unacceptable and requires immediate attention: Medical awareness/education is lacking; Treatment options are necessary; Information and support for the patient community is desired. How do we create change?