in Research

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We’ve been talking to the National Congenital Anomaly and Rare Disease Registration Service  (NCARDRS) about piloting a new self-registration service with them for r(20) patients/patient families. We do hope that many of you will participate to help inform with a view to ultimately improving health services for those living with r(20) in England. If this is successful, then we may reach out to the public health services running similar programs in the devolved nations and perhaps into Europe and beyond?

Why are we doing this?

We found out that our national rare disease registration service holds no record of anyone with r(20) syndrome and we were shocked, but not surprised. A relatively new service in England (and similar services operate in Scotland, Wales and Northern Ireland) GPs and doctors are asked to report patients diagnosed with a rare disease before the age of 5. Herein lies the problem, many r(20) patients aren’t diagnosed until after their 5th birthday. We want to get r(20) patients on the map, so that our national health service recognises that they exist and need care.

What’s in it for you?

Collecting information helps NCARDRS/Public Health England better understand rare diseases like ours to help make sure that people living with these conditions receive the best possible individual care. The national register is also used for research and planning.

Who is eligible?

The service is available to all our families who are registered and/or treated in England – as they are part of Public Health England.

How will I contact NCARDRS?

 

To start the process you will need to send an initial e-mail to the NCARDRS team e-mail address (phe.ncardrsrd@nhs.net) requesting to register in relation to this pilot. You will receive a reply with instructions on what to do next.

Safe transfer of information is extremely important to the NCARDRS team.  General e-mail is not a secure method of data transfer – messages sent in this way will not be encrypted and may be at risk of interception.  Because you will be sending your personal information to NCARDRS they want to give you an option to transfer your information securely, and to do this they use an encrypted e-mail system called Egress switch.

In future NCARDRS are hoping to be able to offer an online registration system for patients to register with them. The development of this is in discussion and so as an interim solution they have agreement that they can collect patient information for registration via e-mail.

 

What information will you be asked to provide?

If the patient is reporting themselves NCARDRS will ask for the following information:

    • Name
    • Date of birth
    • Sex
    • Address
    • Rare disease
    • Treating Clinician
    • Specialist centre / hospital
    • Confirmation that they agree to NCARDRS holding their data
    • Confirmation that they are the patient
    • Confirmation that they understand NCARDRS will contact their clinician for further information.

If the patient is the person’s child, NCARDRS will ask for the following information.

    • Patient’s name
    • Patient’s date of birth
    • Patient’s sex
    • Patient’s address
    • Rare disease
    • Patient’s treating Clinician
    • Specialist centre / hospital
    • The name of the person who is registering the child.
    • Confirmation that they are the patient’s parent
    • Confirmation that they agree to NCARDRS holding their child’s data
    • Confirmation that they understand NCARDRS will contact their child’s clinician for further information.

Want more information before you decide?

The NCARDRS patient leaflet is available at the following website link:  https://www.gov.uk/government/publications/national-congenital-anomaly-and-rare-disease-registration-service-introductory-leaflet

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