Rare Disease Day on 28 February is the globally-coordinated movement on rare diseases, working towards equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with a rare disease.
Since its creation in 2008, Rare Disease Day has played a critical part in building an international rare disease community that is multi-disease, global, and diverse– but united in purpose. More information is on https:/
The metabolic disease team at RNOH will be hosting a webinar with an update on the unit's services, an overview of what they do, and who is in their team. Please access via this link from 17.30 on Feb 28.
17:35 - 18:00 Rare Disease Management in the UK – where are we now? Professor Richard Keen
18:00 - 18:25 Metabolic Bone Services at RNOH – Dr Judith Bubbear and CNS Martyn Dudley
18:25 - 18:45 Pain in Rare Bone Disease (subject and speaker subject to change)
18:45 - 19:00 Q&A
The RNOH offers an extensive range of metabolic services ranging from the research and treatment of osteoporosis for men and women to the management of rare and complex metabolic disorders in adults and children. In addition, the Trust has purchased a mobile forearm peripheral bone density scanner and is providing a mobile densitostic service to GP's.
- Investigation and management of osteoporosis and metabolic bone diseases
- In-patient facilities for treatment and rehabilitation
- Day-case facility for administration of intravenous therapies
- Direct access bone densitometry service
- Peripheral bone densitometry service to local Primary Care Organisations
- Clinical Nurse Specialist monitoring clinics
- Telephone advisory service
- Dietician support
- Patient education programme
- Clinical education programme
From Wednesday 4th May 2022, the RNOH Sport, Exercise and Musculoskeletal Medicine service committed to using ‘PATHPOINT’, an electronic referral and pathway management system, for all Consultant-led referrals from secondary and tertiary care organisations.
General Practitioners should continue to refer to RNOH using the UK Electronic Referral System (ERS)- please see below.
PATHPOINT offers significant benefits to referrers:
- Secure, streamlined, electronic referral forms
- Receive updates and notifications in real time
- Increased visibility of all referrals and triage outcomes
To submit a referral to Rheumatology please access the 'PATHPOINT' link (within your Secure hospital network) and follow the steps below:
- Register with your personal NHS email address for a PATHPOINT account to manage your referral/s
- Login to your account with your credentials by clicking the 'PATHPOINT' link
- Input your referring organisation, and patient PID details
- Click the drop down list of referral pathway forms and select "Rheumatology" and click "Go to referral form" to launch the form
- Fill in all fields of the Tertiary Rheumatology Unit referral form and click "Save Rheumatology "
NB: You will receive notification emails to your NHS email account from PATHPOINT from the Metabolic Bone Unit with updates about the status of your referral if further information is required.
To give your feedback, or for any further questions, please email the relevant contact below:
PATHPOINT Technical Support: support
Feedback to RNOH Project Team: rnoh.
For further information on the PATHPOINT system, please click here
Referrals are accepted from GPs and consultants. If you are a GP referring to the RNOH please use the NHS e-Referral Service system, e-RS.
Key Contacts (Stanmore and Bolsover)
Patient Helpline: (Clinical Nurse Specialists)
Tel: 0203 947 0184
Metabolic Unit Admin Team
Follow up and infusion appointment queries:
Tel: 0203 947 0056 (option 2)
New referral appointments and general queries:
Tel: 0203 947 0056 (option 3)
DXA appointments and queries:
Tel: 0208 909 5476 - 0203 947 0040
- Dr Judith Bubbear - Osteoporosis and Metabolic bone diseases including CRMO/SAPHO....
- Professor Richard Keen - Osteoporosis and metabolic bone disease. Fibrous dysplasia. Fibrodysplasia Ossificans Progressiva. Hyophosphatasia. Osteogenesis Imperfecta....