the second child in Italy to have received gene therapy in December 2020. Management from the diagnosis is essential. The NeMO clinical center model
Joseph born with the SMA type 1, the most severe form of spinal muscular atrophy, a rare genetic disease that causes the progressive degeneration of motor neurons, compromising the ability to walk, swallow, breathe, leading to death, at least until a few years ago. In December 2020, at the age of 5 months, he was the second child in Italy to receive, at the NeMO (NeuroMuscolar Omnicentre) clinical center in Milan, gene therapy – approved in Italy a month earlier – capable of correcting the genetic defect at the root of his disease. His mother Michela says: Today Giuseppe is two and a half years old, a joy to see r
can stand upright maintaining an upright position, even with the support of braces. He wouldn’t be alive if it hadn’t been taken care of already starting from the diagnosis, in September 2020, by the doctors and the team of the NeMO Clinical Center: thanks to them I didn’t have to say goodbye to my son.
The importance of newborn screening
Michela remembers moved when they called her to inform her that gene therapy had been approved and that Giuseppe would have to go to the hospital to carry out the necessary checks before treatment. Even today I cry for joy – she says -. I was told that Joseph’s life expectancy was two and a half years; today my son is a lively child, very active verbally and, even if it is not known whether he will be able to walk (doctors don’t go too far), he has found his own adaptation “strategies”, for example, if he wants to play with his 5-year-old little sister he asks for a wheelchair.
Michela has a gripe: I see children with the same disease as Giuseppe but who took the test at birth and are walking today. It would be important that it
was done to all children who are born to be able to intervene immediately, since today there are treatments for Sma.
Giuseppe continues to be monitored, he does physiotherapy at home three times a week and speech therapy sessions. was taking care of the whole family, who was also able to count on psychological support. it was fundamental not to have been left alone in this very tiring journey – says the mother -. The NeMO operators took me by the hand accompanying me to discover my son’s illness and to react; they made me understand that it’s not normal but it’s not the end of the world either. happened, we roll up our sleeves and try to get as far as possible. It seems strange to say it, but for me NeMO does not mean hospital but “home”, because I’m sure I can count on the people who work there, who listen to me, who they fight our own battle – underlines Michela – . Going to one place and doing everything means being taken care of at 360 degrees.
Moreover, the NeMo project for the treatment, assistance and research on neuromuscular and neurodegenerative diseases born fifteen years ago in Milan (first site, at the Niguarda Hospital) on the initiative of the patients themselves who live with a neuromuscular disease, with the aim of creating a model of care built around the specific needs of those suffering from complex pathologies, such as Sma, ALS-Amyotrophic lateral sclerosis, muscular dystrophies. Today a network of 7 expert centres on the national territory and a point of reference for almost 20 thousand families.
Elisabetta Roma, pulmonologist at the NeMO Clinical Center in Milan where she has been working since 2009 says: The project was born from the need to patients with complex pathologies of care pathways – highly specialized – designed around their needs and to those of the family, and of t
Find the specialists working together in one place without having to wander between surgeries and hospitals.
Multidisciplinary care approach
The treatment approach of the NeMO Centers multidisciplinary. Dr. Roma explains: In each department there is a team of professionalsspecialist doctors (neurologist, pulmonologist, neuropsychiatrist, etc.), nurses, physiotherapists (developmental, motor, respiratory, occupational therapists), nutritionist, speech therapist. They work together throughout the treatment and rehabilitation process, taking charge of the patient (and family)
according to your needs, starting from the diagnosis up to palliative care, when it is necessary to alleviate the ailments that cannot be cured. The patient continues to be also followed at home. For example, at the NeMO Center in Milan, the figure of the nurse coach – reports the pulmonologist -. In practice, a nurse who follows the training of the caregiver while the patient is hospitalized, together with the respiratory physiotherapist, the occupational therapist and other professionals, in order to teach the use of the aids once he returns home. Furthermore,
il nurse coach acts as a point of union between the clinical centre, the general practitioner and home care in the area.
March 19, 2023 (change March 19, 2023 | 07:57)