Medical home for people with a rare condition
Rare conditions are often a combination of not so rare congenital anomalies and diseases that may manifest at different ages.
Some characteristic features may not be recognized as a specific feature of a rare condition.
Once the diagnosis is established a multidisciplinary collaboration between medical specialist, general care providers close by home and patient and family helps to ease the life of a person with a rare condition and its family.
Here you find documents and reports on activities that may be relevant.
Conclusion Lack of appropriate school education has a major impact on adults with SDS. The developmental disorder, recurrent illness and hospitalisation can all have had effect on school education. Therefore we suggest the ICF to be associated with a rare disease coding capturing the ICD registrations. To ensure no one is left behind.
Poster by Sahan Perera and Liesbeth Siderius
EAP Congress 18-21 May Padova, Italy
Conclusion: A digital model integrating data from health professionals and home based records improves care and health outcomes for children and adolescents. Utilizing standard coding and Fast Healthcare Interoperability Resources architecture allows for seamless sharing of information between systems, leading to more efficient and accurate data collection for better informed healthcare decisions for children and adolescents.
Poster IPA conference february 2023.
Understanding the positive / neutral and negative aspects of living with a rare condition may help parents and communities to support growing up towards a fulfilled life. Incorporating the ICF in personal digital health records promotes health and well being at all ages Sustainable Development.
In 2021 voerde stichting Rare Care World het project 'Een persoonlijke gezondheidsomgeving (PGO) voor iedereen' uit. Het verslag daarvan is nu toegevoegd aan deze website.
Samenvatting:
Een Persoonlijke gezondheidsomgeving (PGO) gespecificeerd op de ‘eigen’ aandoening, geeft mensen met een chronische aandoening, beperking of psychische problemen en hun naasten meer regie op het dagelijks leven. Inzicht in eigen gezondheidsdata geeft de mogelijkheid adequaat te reageren op resultaten van laboratoriumuitslagen; volgen van de effecten van medicatie of hulpmiddelen op het optimaal meedoen in de samenleving.
Het project heeft voor mensen met Shwachman Diamond Syndrome, Thalassemie en Sikkelcelziekte, een PGO toegespitst op de eigen situatie gerealiseerd in ‘MijnPGO’. Het is aangetoond de aanpak schaalbaar is tot alle (zeldzame) chronische en beperkende aandoeningen.
ePoster at the RCPCH Conference Singapore, March 6-7 2021
In this paper, we describe the analysis of rare disease papers using natural language processing, machine learning, and visualization techniques to determine the topic areas described in the papers about Shwachman disease and Thalassemia disease.
IT coding for information exchange on Medication and Vaccination
