Journey to Diagnosis Report – out now!

Journey to Diagnosis Report

Let’s set the scene, the joy of having your first born turns to despair as you know something just isn’t quite right. They have an un-controllable hunger, they are gaining weight at a rapid rate and the wobbly eyes and shying away from the light, which you thought was normal for a new-born may mean they will lose their sight. Getting passed from pillar to post with no real answers leaves you anxious for what the future holds. As you wait for years with no answers your child’s health continues to deteriorate with no solutions or treatments to help or support you.

What could an early diagnosis mean for this family?

An early diagnosis could lead to appropriate treatment and management of their child’s symptoms, as well as personalised support and improved outcomes for the whole family.

This story is common amongst families living with AS and this is why a quicker diagnosis with the right support, is what we should all be striving for.

ASUK commissioned this report to gain a better understanding of the journey to diagnosis and identify recommendations to improve patient and family experiences and health outcomes.

Despite the identification of the ALMS1 gene, the advancements in genomic technology and the availability of genetic testing throughout the UK, developments still need to be made to improve the diagnostic odyssey. People with AS often face a difficult and unpredictable journey to diagnosis, moving from clinician to clinician, seeking the much-needed specialist advice from those who understand the nature of the condition best. Although AS, has a unique set of features it is difficult for clinicians to instantly recognise.
There are a few rare conditions that have similar characteristics to AS and have early onset symptoms such as nystagmus, photophobia, obesity, and cardiomyopathy. Awareness of AS amongst clinicians is limited and symptoms are often dealt with independently of one another.

The age of onset of certain AS symptoms can vary from patient to patient which can further complicate the path to diagnosis. It is also unreasonable to expect every clinician to know about and recognise every one of the over 8,000 rare conditions.

The report highlights gaps in knowledge and areas requiring further development to enable patients and their families to receive a timely diagnosis and the support they need.
We understand the limitations of this research study. The report is patient centred, concentrating on people’s lived experiences and information, which is a crucial place to start. Our next step is to gather wider perspectives, including healthcare professionals to look in more detail at healthcare data and gather their feedback and experiences to see if and how our findings and recommendations can be implemented to see real change.

We also plan to carry out a consultation exercise with the 70 + rare condition organisations that we work with as part of the BDB Network. We will support them to consult with their communities and gather evidence that will allow us to understand the journey to diagnosis within the wider rare disease community.

This report is not the end – these findings will provide a basis for future developments in the hope that we can support a faster and more supportive diagnosis, not only for people impacted by AS, but potentially for others living with rare conditions.

You can download the report HERE

The report will also be formally published on the Orphanet Journal of Rare Diseases, targeting research/clinical professionals.

Thank you to the families who took part in this research and kindly shared their stories and journeys to diagnosis.

Get in touch

Please get in touch with ASUK Operations Manager, Catherine Lewis if you would like further information.

Catherine Lewis
ASUK Operations Manager
Email: Catherine.lewis@alstrom.org.uk
Tel: 07970 071675