This is a story of bravery and hope. At this moment in time there are only 14 recorded cases in the world, although it is suspected that there could be as many as 40.
In the quaint little town of Dénia, a baby boy, a member of the Sánchez-Fornés family, whose name is Luca, faces an extraordinary challenge.
Luca suffers from IFAP-1, also known as IFAP/BRESHECK Syndrome, an extremely rare x-linked genetic disorder. This syndrome, characterised by the triad of Ichthyosis Follicularis, Alopecia, an absence of hair follicles and Photophobia, is caused by mutations in the MBTPS2 gene and mainly affects males. Since its first diagnosis in 1909, only 40 cases have been recorded up until 2011. Lucas is a new case of this disorder, which has palliative treatment, but unfortunately not much more is known about this syndrome.
Luca and his family’s background and journey.
Luca was born in Dénia, Costa Blanca, Spain and since day one has proven to be a unique little boy. Together with his parents, Roberto and Cristina and his big brother Jorge, Luca has begun a long journey full of challenges and discoveries.
The Sanchéz Fornés family, with deep roots in Dénia and charro zamarano origens, has devoted all their time to looking for solutions and treatments in order to improve Luca’s quality of life. For instance, they have visited the Pedriatic Institute of Rare Illnesses (IPER), part of Sant Joan de Déu Hospital in Barcelona which is progressing in the treatment and in the investigation of rare conditions. Being a renowned university hospital, Sant Joan de Déu attends to patients with complex disorders from Catalonia, Spain and other parts of the world. In this medical centre they have experience of dealing with more than 1200 rare conditions. Three quarter of these affect at least 4 infants, considered to be extremely rare. Roberto has also been in touch with the ONCE FOUNDATION and with FEDER ,which have provided the family with enormous support on their complicated journey in search of solutions, not just for Luca but also for other children who may suffer an illness similar to that of Luca.
IFAP-1 Syndrome, A multi dimensional challenge.
The IFAP-1 syndrome is presented with a triad of symptoms: intellectual disability, corneal opacifications, kidney dysplasia, along with skeletal malformations, particularly of the vertebrae. Patients, like Luca, may be born with a condition known as Collodian Baby and have to face recurring respiratory and skin infections. Due to its strong link to X chromosome, this syndrome mainly affects males, although some rare cases have been found in females.
Treatment and handling of this syndrome
The treatment of IFAP-1 Syndrome is focused on how to handle the symptoms. Oral doses of vitamin A and ointments are fundamental, and therapy using topical acitretin has resulted in significant improvements. An accurate diagnosis is essential, focusing on early dermatological and ophthalmological assessments in order to prevent the rapid development of the illness and irreparable eye damage.
Luca’s family have shown unwavering determination and courage. They have travelled in Spain and abroad, contacting specialists in order to find the best options to treat this syndrome. Special sunglasses, tailor-made in Europe, have brought great relief and comfort, helping Luca to deal with his severe photophobia. Moreover, exophthalmic drops, not for everybody’s budget, along with a series of exclusive medicine, are helping Luca to cope with his day to day. Luca never stops playing with what is nearby him and the closest to him is his big brother Jorge. Luca’s big brother is playing a crucial role as his loyal shield and carer at all times. Despite the fact that Jorge is still a young child, he always keeps an eye on his little brother, making sure he is safe at all times and making sure that the light is not too bright...protecting Luca’s very sensitive eyes.
Mum Cris, an angel if ever there were one, born in Pedreguer, devotes all her time and energy to her little boy. Thanks to her courage and determination, Cris just gets on with things the same as she thinks any other parent would do. A condition like Luca’s often helps to bring families together, but it is also true that it is an enormous strain, physically and mentally for the family members involved. Robert tells us about the frequent sleepless nights, his never-ending doubts and fears, chatting on the phone to his close friends, going camping in their motorhome, which is the best therapy to escape from the daily turmoil.
Roberto is a travel agent and owner of a multi adventure company in Dénia. Cristina is an English teacher. On several occasions they have both had to stop and take a deep breath in order to deal with the challenges of a problem which is much more complicated than meets the eye. When seeking help, the situation in this country is not ideal. The possibility to be able to rely on state and health aid, unconditionally, should be a premise and should be regulated by law.
An appeal to our society and hope for creating an association
The Sánchez Fornés family are not only fighting for Luca. They are also looking to contact other families affected by the IFAP Syndrome-1. Their goal is to create an association which could encourage investigation and provide support for those who are facing this rare disorder. Luca’s story is an example of love , perseverance and hope, which has inspired us all.
With their commitment and efforts, Roberto, Cristina and Jorge not only hope that Luca’s quality of life will improve, but they also wish to help other families who are in a similar situation. During their journey, they have quickly learned that, although things can be tough and so uncertain, the community and mutual support can make all the difference.
This newspaper would like to make an appeal for help and comprehension for these types of illnesses. It is not just a question of financial support, but also moral, too.
Luca, Cristina, Roberto and Jorge continue to wait to hear of more cases like that of little Luca in order to be able to help others, sharing their experiences. If you should know of a similar case, please do not hesitate to write to [email protected]. We will put you in contact with the Sánchez Fornés family- This is their Instagram.
https://www.instagram.com/soylucasindromeifap?igsh=MWE4OHU5eDA4dXk2eg%3D%3D&utm_source=qr
