The ELPA@home Turkey – LAL-D took place in Istanbul on June 1 and 2, 2023. Organised by ELPA in synergy with its Turkish member HEPYAŞAM, the meeting aimed at learning about the situation of LAL-D in Turkey to look for ways to find patients. Participants heard from physicians, Gastro paediatric doctors, GPs, Hepatologists, Mr Eduardo Lopez from the AELALD Spain association, the activities of the Rare Disease Department of the Ministry of Health, the Rare Diseases Patient Association and the Liver patient association. Participants defined the barriers and possible solutions to find the patients. An action plan was developed and will be implemented by the Liver Association and the Association of Rare Diseases with the collaboration of all the present stakeholders. A Declaration was signed with the participants’ commitment to work together on the action plan. Here is a summary of the future steps:
- Inform the community about LAL-D disease.
- Make this information systematically through social media and classical media.
- Cooperate with municipalities to organise awareness meetings in regions where consanguineous marriages are common.
- Cooperate with doctor associations asking for lists of doctors who will meet with gastro, paediatrics and metabolism associations.
- Ask to be an observer in the studies of the Ministry of Health on rare diseases, trying to increase the focus on LAL-D.
- Participation of HEPYASAM in the rare diseases network.
- Establish contact with rare disease units established in some universities.
- Advocate to include LAL-D in newborn screening studies.
- Convey the message that babies diagnosed with the disease also have the right to a healthy life and access to treatment.
Participants agreed to have a virtual meeting at the beginning of September 2023 to follow up on the plan’s implementation.