San Paolo Hospital, ASST Santi Paolo e Carlo

Milan, ITALY

Area of expertise and the Healthcare Provider’s contribution to care for patients within the MetabERN Network

The Healthcare Provider takes care of patients with metabolic inherited diseases from the neonatal age (when PKU is concerned) all through to adult age. We provide our patients with services for all problematics that might be secondary to their disease.
We follow our patients through all stages of their life, following their psychomotor and neurocognitive development, through neurophysiological and neuropsychological tests during the different phases of development and also at an adult age.
We keep following our patients through the years, seeing how they grow and how their metabolic disorder has a different impact on their lives at different stages in life.
In our Hospital a multidisciplinary team of specialists exists, that monitors and cares for all the complications that might overcome during the life of our patients as a consequence to organ damage.
Our Clinic is a nutritional referral centre, that defines and participates in National studies and guidelines for nutrition in childhood. We therefore evaluate accurately the nutritional status of all our patients, not only regarding the specific needs of a metabolic patient but also undergoing research studies on their nutritional status, compared to the normal population.
We actively participate in European studies that evaluate the effects of nutrition on the neurocognitive development.
As our patients are not only children, but many have grown into adults we are now facing an increasing number of requests regarding pregnancies.
We follow our PKU patients from the programming of a pregnancy, and therefore the consequent possible changes in diets and lifestyle, through to the birth of the child. We follow them not only by keeping under control their biochemical values, but also following (with our obstetricians and gynecologists) the pregnancy itself. During and after the pregnancy we also care for the health the future baby/newborn, following the growth and development through the years.
In our patients affected by galactosaemia we work together with our expert consultants providing them with care for their possible precious menopause, or amennorea supporting them with the best terapies available for them and evaluating accurately residual fertility, so to give the precocious possibility to undergo criopreservation of ovarian tissue or ovules.

SPECIFIC TREATMENTS AND INTERVENTIONS PROVIDED BY THE HCPs

The Healthcare Provider is a regional referral centre for the extended neonatal screening, which screens for over 40 metabolic diseases. It provides both lab and instrumental diagnostic tools, in support of new diagnosis and follow-up of patients.
Within the Healthcare Provider routine blood exams, plasmatic aminoacid dosage, genetic and molecular analysis (for phenylketonuria) are active and available everyday of the week.
All services not available within the Hospital are provided by other centres, that are in direct contact with the Healthcare Provider and at no added cost to the patient.
The consulents working within the multidisciplinary team are always available on call for specialistic evaluation and also have outpatients services active, with preferential access to patients affected by rare inherited metabolic disorders.
A psychological and social support team is available, for both new patients and well-known patients.
In our routine practice we supply medical and pharmaceutical assistance, we infuse our patients for ERT and supply acute care when needed. We have outpatients service for follow-up and specific therapies and also supply our patients with dyalitic support, where needed.
Our Clinic is a referral centre for nutrition, with dieticians working within the multidisciplinary team. Two of our nutritions are dedicated entirely to working with and for our metabolic patients, keeping in contact for any requirement through e-mail and telephone. They participate in the management of patients both during hospitalization and during follow-up sessions in outpatient department.
When rehabilitation is needed the Healthcare Provider is available for providing the service directly, in the hospital, or (where possible) through territorial assistance.
An emergency room with direct access is available 24/7 with the possibility of multidisciplinary consults. Patients affected by rare diseases also benefit of a preferential reserved access to the emergency room.
Within the Healthcare Provider an assistance program for disabled patients (unique in Italy) – D.A.M.A. (Disable Advanced Medical Assistance) – is active and available, providing preferential and reserved access to many services to patients with special needs.

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    GRAZIELLA SILVIA CEFALO

    San Paolo Hospital Milan, Italy