The odyssey started with this email:
My son NAME, aged 9, attends SCHOOL NAME. He has been clinically and genetically diagnosed with familial cold autoinflammatory syndrome type 2 at Great Ormond Street Hospital (GOSH) in London – he has a R1016X mutation of the NLRP12 gene. He is the only child in the UK with the disease. His mother has also been clinically and genetically diagnosed with the same disease and has the same symptoms and she is the only adult in the UK with the disease.
There are now 27 known diagnosed cases globally and I am the only person in the world who is in contact with 13 of the diagnosed patients or diagnosed patients’ parents through closed Facebook groups which are recognised not only by GOSH but also the Royal Free Hospital in London and the National Institutes of Health in Maryland. Indeed, posters from these groups are to be seen in not only the hospitals mentioned but also other hospitals around the world and are used regularly in rare disease conferences globally. I also contribute to research in the UK, Europe and the US and write on the condition (including autoinflammatory conditions and rare diseases) and its effects on the patients and their families in various publications around the world including GOSH website, GOSH staff magazine, Eurordis, European Medical Journal, Sunday Express, Daily Mirror, Daily Telegraph, Daily Mail, the Scotsman, Holyrood Magazine etc. I also run the website for the condition and speak at relevant conferences and submit posters to relevant conferences. I am also an active member of the Rare Disease Cross Party group in Scottish Parliament, Eurordis, Rare Disease UK and Genetic Alliance UK.
My son is treated by the RHSC in Edinburgh, taking advice from Professor NAME at UCL and GOSH. For the past 18 months, he has been receiving infusions of the biologic drug Tocilizumab. He currently receives three-weekly infusions of Tocilizumab at RHSC. His mother is currently on the same drug but the delivery method for adults is self-administered weekly subcutaneous injections. He was previously tried on another biologic called Anakinra and before that prednisolone and prior to that, colchicine. He also takes regular analgesics (Codeine, Paracetamol and Ibuprofen). One of the side-effects of tocilizumab is that it leaves NAME immunocompromised.
Having a parent in the household with the same disease allows us, as parents, to completely understand and communicate about the effects of the disease on daily life.
Since starting tocilizumab his attendance at school has increased from around 50% at stages to around 75%-80% at stages although this is variable. The drug is not a cure but a treatment. It means that most of the time the flares are not as severe as they were before tocilizumab and not as lengthy. He is still missing too much school and requires additional support. A lot of his life, he spends in pain and we are awaiting CAMHS and specialist physiotherapy input on living with pain as recommended by GOSH.
I have been informed of a piece of technology which would allow NAME to attend school more regularly and I am requesting that the local authority fund this as an additional support need for NAME. I was informed of the technology by one of the founders of the Cambridge Rare Disease Network at who’s conference I have been invited to speak later this year together with submitting a poster. I have over the past two weeks been in contact with the product developers in Norway, both marketing and technical departments, as my background includes over 14 years in senior positions in application development and information architecture in the United States. As rare carers, we understand the personality of our family member’s aetiology. We find solutions like this, not because they were discovered in a laboratory, but because they were sought out, over time, by tired, overworked but extremely resourceful parents and patients.
The technology is AV1, the world’s first telepresence robot specifically developed for children and young adults with long-term illness. With AV1, the child can participate in class, and maintain contact with their school friends, from the comfort of their own home (or even hospital bed). AV1 is controlled by the child through an accompanying app. The app lets the pupil attend classes, take part in lessons and talk to everyone in the classroom. AV1 can be picked up and placed anywhere. The unit has a camera, speaker, and microphone together with two motors, a battery, WiFi, and 4G connection to enable the student to keep in touch with their teacher and classmates and to participate in class without being physically present. All features are controlled through the app on the user’s smartphone or tablet. The unit is currently in use in Norway and Netherlands.
NAME would be able to see the whole classroom by swiping right and left in the app, and the AV1 would rotate 360 degrees. He would be enabled to view the whole classroom and talk to all classmates, irrespective of where they sit. Should he wish to raise his hand to speak during class, he can signal this by activating the blinking light on AV1’s head. Should he be experiencing more severe pain, he can change the light on top of AV1’s head to solid blue. This will signify to the teacher and class that he wishes to participate passively.
Security and privacy are built into the AV1. Only one child or young adult can use AV1 at a time through a secure password login.
AV1 can only be used in real-time and it is not possible to record or save any data including screenshots on the tablet. All streamed data is thoroughly encrypted, and it is impossible for any external party to access the video/audio sent between the user and the robot. All video/audio is sent through a closed tunnel between the robot and the tablet/phone. To participate and interact, NAME would have to be present either in front of the robot or in front of the tablet/phone.
AV1 communicates through two different types of channels. The first is for signalling. All signalling goes through the developer’s servers. It is used for metadata such as the battery level and the availability of the robot on the internet, which is made available to the authorised users’ app, plus the customer support department if there is a need to track down a problem for the user. When the user wishes to use AV1 and clicks “Connect” the app uses the signalling channel to initiate a direct media channel between the robot and the app itself. This is the second type of channel. The media traffic does not go through the developer’s servers if it can be avoided as performance and bandwidth are critical for audio and video streaming. Media traffic can be sent through the developer’s servers in such cases where especially restrictive firewalls make direct communication impossible (it will send it end-to-end encrypted through a simple relay server).
All traffic is encrypted. Media traffic (audio/video) is always end-to-end encrypted whether it goes directly from the robot to the app or through a relay, and the stream cannot be observed by the developers or anyone other than the user. All signalling is encrypted using strong encryption keys and the HTTPS protocol. All media traffic uses either SRTP (with DTLS for the key exchange) or DTLS (mainly for metadata p2p, movements, etc.).
All my research into the unit has been favourable as has my communication with the developers. I believe it is the ideal solution to allow NAME to have a greater attendance record at the school. I also believe it could be a great asset to other children/youth with similar problems attending school.
If it is required, I can supply a fully referenced paper on why I, with my experience, feel that this is so far, the best solution for NAME now.
There are 300,000 people in Scotland affected by rare diseases fragmented over 6-8,000 diseases per the Scottish Government’s figures. This could be used by the City of Edinburgh Council as a trial to pave the way for supporting children with chronic and lifelong multisystem diseases, requiring multidisciplinary care pathways and innovative care solutions, in a cost-effective way.
This unit would allow the Council to be fully compliant with the Education (Additional Support for Learning) (Scotland) Act 2004 (as amended) and the Standards in Scotland’s Schools Act 2000 with regards to NAME’s specific and unique needs.