Rare disease, rare life

Rare disease, rare life

This feature aims to investigate and document what are the needs and the everyday life of the people suffering from rare diseases. Discovering that behind every case of a rare disease lurks a real life rare , made of force , stubbornness , suffering, but also of great joy and discovery.
“As a drop of water falling into a pond creates ripples that spread over the entire surface , so my rare disease called CIDP , propagates the will to live , courage, love , positivity and willingness in every moment of my life “.  “A person suffering from a rare disease , is as the seed of a plant that travels for miles by the wind and falls unexpectedly on a land which is almost totally unprepared to receive it. Nevertheless the seed is strong and can not wait to grow up and become a tree. The land of the family feeds him and learn to know , to accept , to support it and to devote themselves to its growth with all the patience and dedication that are necessary. “ One of the subjects of the work is Giovanna Vignola, who starred in the movie “The Great Beauty” by Paolo Sorrentino (nominees for Best Foreign Language Film at Accademy Award), in the role of Dadina and who suffers from achondroplasia. This story has been made to celebrate the world day dedicated to rare diseases by 28 February.The threshold of incidence of rare diseases is the the 0,05%, according to EU Currently rare diseases are estimated between 8 and 9000 , this means that although each rare disease have a lower incidence of 0.05 % of the population , the incidence of all rare diseases and dramatically higher : about 500 thousand patients throughout Italy .

by Aldo Soligno

This feature aims to investigate and document what are the needs and the everyday life of the people suffering from rare diseases. Discovering that behind every case of a rare disease lurks a real life rare , made of force , stubbornness , suffering, but also of great joy and discovery.
“As a drop of water falling into a pond creates ripples that spread over the entire surface , so my rare disease called CIDP , propagates the will to live , courage, love , positivity and willingness in every moment of my life “.  “A person suffering from a rare disease , is as the seed of a plant that travels for miles by the wind and falls unexpectedly on a land which is almost totally unprepared to receive it. Nevertheless the seed is strong and can not wait to grow up and become a tree. The land of the family feeds him and learn to know , to accept , to support it and to devote themselves to its growth with all the patience and dedication that are necessary. “ One of the subjects of the work is Giovanna Vignola, who starred in the movie “The Great Beauty” by Paolo Sorrentino (nominees for Best Foreign Language Film at Accademy Award), in the role of Dadina and who suffers from achondroplasia. This story has been made to celebrate the world day dedicated to rare diseases by 28 February.The threshold of incidence of rare diseases is the the 0,05%, according to EU Currently rare diseases are estimated between 8 and 9000 , this means that although each rare disease have a lower incidence of 0.05 % of the population , the incidence of all rare diseases and dramatically higher : about 500 thousand patients throughout Italy .

Grottaglie. Italy. Roberta 3 years old. Roberta is affected by SMA, Spinal Muscular Atrophy (Spinal Muscular Atrophy is a disease of the nerve cells of the anterior horns of the spinal cord. From these cells (motor neurons) leave the direct nerves to the muscles, especially those closest to the trunk. SMA therefore, limits or prevents activities such as crawl, walk, check the neck and head and swallowing) Florence. Italy. Davide, 15 years old. David is suffering from Williams-Beuren syndrome. Williams-Beuren syndrome is characterized by supravalvular aortic stenosis (caused by a deficiency of elastin), mental retardation associated with an extremely sociable and extroverted with strangers. Williams Beuren syndrome also involves difficulties in the perception of depth of field. Despite this, David is able to play both football rowing. Grottaglie. Italy. Serena, 7 years old. Serena suffers from CDKL5 with a neurodegenerative disorder and drug resistant mutation not described in the medical literature. Her name, however, perfectly reflects her character: she is a quiet little girl, with infinite gentleness, she has a very strong character because since she was born she has faced many hard tests. She does not speak but her voice when she emits some sporadic warble is a sweetheart. Milan. Italy. Luca, 3 years old. Luca is suffering from epidermolysis bullosa. Every day has to undergo painful dressings because of the fragility of his skin. Luca is one of the very few children with this syndrome who attends the nursery. Perugia. Italy. Giovanna Vignola She was born in Salsomaggiore Terme and she is affected by achondroplasia. She has starred in the role of Dadina in the film The Great Beauty by Paolo Sorrentino. Florence. Italy. Davide, 15 years old. David is suffering from Williams-Beuren syndrome. Williams-Beuren syndrome is characterized by supravalvular aortic stenosis (caused by a deficiency of elastin), mental retardation associated with an extremely sociable and extroverted with strangers. Williams Beuren syndrome also involves difficulties in the perception of depth of field. Despite this, David is able to play both football rowing. Acquaviva delle fonti. Italy. Valeria, 27 years old. Valeria is in care since nine years because she was diagnosed with CIDP. The CIDP (chronic inflammatory demyelinating polyneuropathy) is a rare disorder of the peripheral nerves caused by damage to the myelin sheath that insulates nerves. Perugia. Italy. Giovanna Vignola She was born in Salsomaggiore Terme and she is affected by achondroplasia. She has starred in the role of Dadina in the film The Great Beauty by Paolo Sorrentino. Perugia. Italy. Giovanna Vignola She was born in Salsomaggiore Terme and she is affected by achondroplasia. She has starred in the role of Dadina in the film The Great Beauty by Paolo Sorrentino. Grottaglie. Italy. Roberta 3 years old. Roberta is affected by SMA, Spinal Muscular Atrophy (Spinal Muscular Atrophy is a disease of the nerve cells of the anterior horns of the spinal cord. From these cells (motor neurons) leave the direct nerves to the muscles, especially those closest to the trunk. SMA therefore, limits or prevents activities such as crawl, walk, check the neck and head and swallowing) Florence. Italy. Davide, 15 years old. David is suffering from Williams-Beuren syndrome. Williams-Beuren syndrome is characterized by supravalvular aortic stenosis (caused by a deficiency of elastin), mental retardation associated with an extremely sociable and extroverted with strangers. Williams Beuren syndrome also involves difficulties in the perception of depth of field. Despite this, David is able to play both football rowing. Grottaglie. Italy. Serena, 7 years old. Serena suffers from CDKL5 with a neurodegenerative disorder and drug resistant mutation not described in the medical literature. Her name, however, perfectly reflects her character: she is a quiet little girl, with infinite gentleness, she has a very strong character because since she was born she has faced many hard tests. She does not speak but her voice when she emits some sporadic warble is a sweetheart. Milan. Italy. Luca, 3 years old. Luca is suffering from epidermolysis bullosa. Every day has to undergo painful dressings because of the fragility of his skin. Luca is one of the very few children with this syndrome who attends the nursery. Perugia. Italy. Giovanna Vignola She was born in Salsomaggiore Terme and she is affected by achondroplasia. She has starred in the role of Dadina in the film The Great Beauty by Paolo Sorrentino. Acquaviva delle fonti. Italy. Valeria, 27 years old. Valeria is in care since nine years because she was diagnosed with CIDP. The CIDP (chronic inflammatory demyelinating polyneuropathy) is a rare disorder of the peripheral nerves caused by damage to the myelin sheath that insulates nerves. Grottaglie. Italy. Roberta 3 years old. Roberta is affected by SMA, Spinal Muscular Atrophy (Spinal Muscular Atrophy is a disease of the nerve cells of the anterior horns of the spinal cord. From these cells (motor neurons) leave the direct nerves to the muscles, especially those closest to the trunk. SMA therefore, limits or prevents activities such as crawl, walk, check the neck and head and swallowing) Florence. Italy. Davide, 15 years old. David is suffering from Williams-Beuren syndrome. Williams-Beuren syndrome is characterized by supravalvular aortic stenosis (caused by a deficiency of elastin), mental retardation associated with an extremely sociable and extroverted with strangers. Williams Beuren syndrome also involves difficulties in the perception of depth of field. Despite this, David is able to play both football rowing. Perugia. Italy. Giovanna Vignola She was born in Salsomaggiore Terme and she is affected by achondroplasia. She has starred in the role of Dadina in the film The Great Beauty by Paolo Sorrentino. Grottaglie. Italy. Roberta 3 years old. Roberta is affected by SMA, Spinal Muscular Atrophy (Spinal Muscular Atrophy is a disease of the nerve cells of the anterior horns of the spinal cord. From these cells (motor neurons) leave the direct nerves to the muscles, especially those closest to the trunk. SMA therefore, limits or prevents activities such as crawl, walk, check the neck and head and swallowing) Acquaviva delle fonti. Italy. Valeria, 27 years old. Valeria is in care since nine years because she was diagnosed with CIDP. The CIDP (chronic inflammatory demyelinating polyneuropathy) is a rare disorder of the peripheral nerves caused by damage to the myelin sheath that insulates nerves. Grottaglie. Italy. Roberta 3 years old. Roberta is affected by SMA, Spinal Muscular Atrophy (Spinal Muscular Atrophy is a disease of the nerve cells of the anterior horns of the spinal cord. From these cells (motor neurons) leave the direct nerves to the muscles, especially those closest to the trunk. SMA therefore, limits or prevents activities such as crawl, walk, check the neck and head and swallowing) Florence. Italy. Davide, 15 years old. David is suffering from Williams-Beuren syndrome. Williams-Beuren syndrome is characterized by supravalvular aortic stenosis (caused by a deficiency of elastin), mental retardation associated with an extremely sociable and extroverted with strangers. Williams Beuren syndrome also involves difficulties in the perception of depth of field. Despite this, David is able to play both football rowing. Grottaglie. Italy. Roberta 3 years old. Roberta is affected by SMA, Spinal Muscular Atrophy (Spinal Muscular Atrophy is a disease of the nerve cells of the anterior horns of the spinal cord. From these cells (motor neurons) leave the direct nerves to the muscles, especially those closest to the trunk. SMA therefore, limits or prevents activities such as crawl, walk, check the neck and head and swallowing) Perugia. Italy. Giovanna Vignola She was born in Salsomaggiore Terme and she is affected by achondroplasia. She has starred in the role of Dadina in the film The Great Beauty by Paolo Sorrentino. Grottaglie. Italy. Serena, 7 years old. Serena suffers from CDKL5 with a neurodegenerative disorder and drug resistant mutation not described in the medical literature. Her name, however, perfectly reflects her character: she is a quiet little girl, with infinite gentleness, she has a very strong character because since she was born she has faced many hard tests. She does not speak but her voice when she emits some sporadic warble is a sweetheart. Grottaglie. Italy. Roberta 3 years old. Roberta is affected by SMA, Spinal Muscular Atrophy (Spinal Muscular Atrophy is a disease of the nerve cells of the anterior horns of the spinal cord. From these cells (motor neurons) leave the direct nerves to the muscles, especially those closest to the trunk. SMA therefore, limits or prevents activities such as crawl, walk, check the neck and head and swallowing) Florence. Italy. Davide, 15 years old. David is suffering from Williams-Beuren syndrome. Williams-Beuren syndrome is characterized by supravalvular aortic stenosis (caused by a deficiency of elastin), mental retardation associated with an extremely sociable and extroverted with strangers. Williams Beuren syndrome also involves difficulties in the perception of depth of field. Despite this, David is able to play both football rowing. Grottaglie. Italy. Roberta 3 years old. Roberta is affected by SMA, Spinal Muscular Atrophy (Spinal Muscular Atrophy is a disease of the nerve cells of the anterior horns of the spinal cord. From these cells (motor neurons) leave the direct nerves to the muscles, especially those closest to the trunk. SMA therefore, limits or prevents activities such as crawl, walk, check the neck and head and swallowing) Perugia. Italy. Giovanna Vignola She was born in Salsomaggiore Terme and she is affected by achondroplasia. She has starred in the role of Dadina in the film The Great Beauty by Paolo Sorrentino. Grottaglie. Italy. Roberta 3 years old. Roberta is affected by SMA, Spinal Muscular Atrophy (Spinal Muscular Atrophy is a disease of the nerve cells of the anterior horns of the spinal cord. From these cells (motor neurons) leave the direct nerves to the muscles, especially those closest to the trunk. SMA therefore, limits or prevents activities such as crawl, walk, check the neck and head and swallowing)