Think Ammonia! Results of the MSUK hyperammonaemia survey

THINK AMMONIA! RESULTS OF THE MSUK HYPERAMMONAEMIA SURVEY

THE BACKGROUND Through our remit of supporting individuals living with Inherited Metabolic Disorders (IMDs), we offer assistance to a number of communities at risk of hyperammonaemia.

Due to this position, we have received reports dating back a number of years regarding patients who have experienced serious adverse events including disability and death due to hyperammonaemia not being diagnosed and treated quickly enough. This importance of rapid, accurate ammonia testing in these cases has once again been reiterated through the high-profile case of Rohan Godhania.

Change must be made to ensure individuals at risk of hyperammonaemia are protected from these severe negative consequences.

THE SURVEY As an organisation, we always endeavour to ensure our community’s voices are heard so that we can make change. That’s why we launched our “Hyperammonaemia survey” in 2023 which aimed to understand the impact of hyperammonaemia on our communities.

The insight gained through this work will help to guide the Metabolic Support UK “Think Ammonia!” campaign which aims to improve outcomes for hyperammonaemia.

THE RESPONDENTS 34 people responded: 85% Parents/Carers 15% living with IMDs The ages of people living with IMDs was diverse: This ranged from 0-6 months to 51+ years with the biggest age group being 19-30 years, making up 28% of respondents.

8 IMDs were represented:

CPS 1 Deficiency 3%

HHH Syndrome 3%

ARG 1 Deficiency 7%

OTC Deficiency 36%

Citrullinaemia 7%

ASA 38%

WHEN PRESENTING WITH SYMPTOMS OF HYPERAMMONAEMIA We asked our communities about their experience of presenting with symptoms of hyperammonaemia.

Awareness 92% felt that the staff they encountered didn’t have adequate awareness of the signs of hyperammonaemia.

55% of respondents didn’t feel that staff were aware of the correct process of sending ammonia samples to be tested.

Communication 71% were not given any information about high ammonia or inherited metabolic disorders before referral to a metabolic centre.

43% didn’t feel listened to.

39%% didn’t feel like there was a good level of communication between the health professionals and them.

35% didn’t feel like they were kept informed and didn’t understand what was happening.

THE RESULTS OF NOT TESTING Failure to test blood ammonia levels rapidly and correctly can lead to severe consequences including seizures, comas, brain damage and even death.

Our communities showed this impact: 65% of respondents said that there have been any long-term physical effects that have occurred due to a delayed recognition of high ammonia.

92% of these long-term effects have been identified as Neurological symptoms.

“My daughter was born in 2012 and very sadly nothing has changed in all this time. Newborns, children and adults are dying or have disabilities due to raised ammonia not being recognised. This needs to change.”

EXPERIENCE WITH AN EXISTING IMD DIAGNOSIS We asked what is in place for people with an IMD diagnosis when presenting with hyperammonaemia.

Our respondents said: When attending A&E, 91% took documentation which explained the need for urgent ammonia testing. 86% of those who took their documentation presented Emergency plan/regimen/BIMDG guidelines.

65% of respondents contacted their metabolic team ahead of attending A&E. 55% found this helpful.

55% have an Open Access Agreement, which was accepted in 88% of cases.

Individuals with a confirmed diagnosis still felt more could be done.

Our respondents said: 62% responded that there were challenges or delays in the process of testing ammonia levels and reaching accurate ammonia level results.

48% didn’t feel that staff understood the urgency of testing and appropriate treatment.

33% had to wait between 3 – 5 hours for appropriate treatment.

THE THINK AMMONIA! CAMPAIGN The "Think Ammonia!" campaign from Metabolic Support UK aims to improve outcomes for individuals experiencing hyperammonaemia.

What have we been doing?

We’ve analysed the data from our hyperammonaemia survey, brought together a working group of senior NHS staff, held a hyperammonaemia roundtable and sent out freedom of information requests to NHS sites to find out their processes for hyperammonaemia.

What are we doing next?

We'll be working to improve outcomes for hyperammonaemia over 2024. This will include educating healthcare professionals, working to improve the guidelines used in healthcare settings, increasing awareness amongst the public, producing resources for people with a confirmed diagnosis and developing an e-module on hyperammonaemia.

What do we need from you?

We’re open to exploring any opportunity to drive this campaign forward and are actively seeking out partnerships.

Interested? Email: Jonathan Gibson (Policy and Public Affairs Officer) via jonathan@metabolicsupportuk.org

Metabolic Support UK is a charity registered in England and Wales (1089588) in Scotland (SCO44634) and a Company Limited by Guarantee (04267454).