Table 3.

Key sections and variables of the CSRI-Ra supported by key themes and example quotes.

CSRI-Ra section	CSRI-Ra key variables	Key themes	Example quotes
Background information	Date of questionnaire completion, gender, date of birth, ethnicity, marital status, rare disease, genetic change, year of diagnosis, number of other family member(s) with rare disease *Carer’s (proxy-completed) version: background information of the carer (the person who complete the questionnaire) will also be asked	Rare disease characteristics Patient’s demographics Carer’s demographics	“My brother has the same rare disease as I do” “I am not brave enough to get married. I wouldn’t even dare to think about that.” [Rare disease patient] “It is very important to have both the patient-completed and carer-completed versions as rare diseases can be very heterogeneous. They can affect both children and adults, some conditions are very severe while some can be very mild where patients can function normally and go to school or work”
Household and carer support	Type of residence, living situation (alone, with parents, etc.), home modifications, in-home care by paid and/or unpaid carer(s), number of paid carer(s) hired, number of working hours reduced or days absent for unpaid carer(s), impact on unpaid carer(s)’ employment, household income	Impact on daily living at home Paid care Informal care Financial burden	“My parents helped to take care of my son [rare disease patient]. They are his main carers, as we both need to work” “We need to hire domestic helpers. In fact it is very difficult to hire domestic helpers. They need to know all the professional caring skills, and it is often really difficult for the domestic helpers too. Therefore it is not uncommon to see them quitting, and we basically have to keep hiring new domestic helpers. (…) In fact this is such a heavy burden for a lot of the families, such as that in our case. It’s the financial and psychological burden that the patient and the carers face…” “A lot of modifications were made at home, such as having a hoist… and our toilet was specially designed for the disabled; we have many handrails…”
Community support	Social security support received by patient and family member(s) of the same household, type and cost of transportation utilised to get to healthcare and community service/resource providers, centre services provided by non-governmental organisations, patient support group	Community support Transportation	“In fact expenditure on transportation is really high… yes for us it would be great if we can take bus and minibus, but for other wheelchair-bounded patients, they will need to use rehabus or taxi. (…) This also impacts their living style. Some prefer to stay home all the time due to very high transportation fee, and they may even skip hospital follow-up because of this” “Patient support groups are extremely important for patients and carers. They get to socialise with each other, and they can support and teach each other new knowledge about management skills and updates of the disease, etc. It is something invaluable that we should raise more awareness about”
Healthcare service and resource utilisation	A&E visits, hospital inpatient days, outpatient attendances, day care attendances, allied health visits, surgeries/medical procedures/treatment, “Community Medical Service” program provided by the Hospital Authority, alternative medicine, medications, medical devices/consumables, healthcare/community services utilised by other family members, out-of-pocket healthcare expenditure	Patient’s healthcare needs to maintain physical and psychological health Out-of-pocket expenditure	“My husband’s rare disease requires extremely high expenditure on surgery and related resources. At his fourth surgery, he had to stay in the intensive care unit for 49 days, and the entire inpatient experience for that single admission lasted for more than 80 days” “Public and private healthcare services target different parts of the disease, even when it is the same service… for example PT OT ST [physiotherapy, occupational therapy, speech therapy]… and especially when there is a very long waiting list for public healthcare services provided by the Hospital Authority, we would rather pay out-of-pocket and pay more to use private services” “In fact my brother has already undergone the surgery for his rare disease condition. He still requires a lot of different medical devices to maintain his daily living. For example, he requires 2 to 3 ventilators, and each of them costs approximately 100 thousand Hong Kong dollars, and we still need to pay for the maintenance fee, not to mention the costs of other consumables… These pose a huge burden to us patients and carers who are among the grassroots of the society…”
Education and employment	Education level, education/employment status, type of school, visits to healthcare and social care professionals at school, whether the rare disease has affected learning/work, related problems at school/work, frequency of problems, days of school/work absent, source of income, working days and hours, impact on employment, education/employment status before diagnosis *Carer’s (proxy-completed) version: employment status of the carer (the person who complete the questionnaire) will also be asked	Opportunities and productivity loss Problems encountered at school/work	“Some rare disease patients get really low conduct marks in mainstream school as they are always absent from classes for medical follow-up.” “We both [patient and patient’s wife] retired early… because of the medical report… How would you make your life choices when you know that there’s a chance that you guys will be parted forever…? at the age of mid 40 s…? (teared) (…) We have both obtained Master’s degree, (…) we have studied for so many years, and we are now only at our mid 40 s… you could probably imagine how significant was the “lost” to us” We have saved all our annual leaves for our son since he will probably need spontaneous surgeries. Sometimes I will also take half day off to bring him to medical follow-ups, such as occupational therapy and physiotherapy. I basically go to every single session with him”

This table is based on the patient’s version of the CSRI-Ra. The patient’s and carer’s versions are almost identical, with minor differences in section orders.

A&E accident and emergency, CSRI-Ra Client Service Receipt Inventory for RAre genetic disease population.