Dislocated knees and elbows, flaccid muscles, deformed spine, very weak hearing, maxillofacial skeletal malformations, breathing problems: this is how Larsen syndrome manifests itself. Emma, a 13-year-old girl who lives in Concorezzo, near Monza, and practices competitive swimming, has been affected since birth. In recent days, in the Italian Paralympic Swimming Championships in Brescia, she managed to obtain surprising results, breaking two important records as they have not been beaten for several years: the first in the 100m freestyle, never surpassed since 2015, and the second in the 100m breaststroke, untouched since 2007. A story of this young swimmer who demonstrates how a serious disability can be transformed into a driving force, capable of overcoming insurmountable obstacles.
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What is Larsen syndrome
It is a rare and complex disease caused by mutations in the FLNB gene which encodes filamin B, a protein that regulates skeletal development. In Europe, its incidence is estimated at less than 1/100,000 births. Those affected may present with congenital dislocations of large joints, such as the hips, knees and elbows, foot deformities, scoliosis, cervical spine kyphosis, short and broad spatula-shaped distal phalanges, craniofacial dysmorphism including cleft palate (a fissure or split in the palate), prominent forehead, sinking of the bridge of the nose, ocular hypertelorism (great distance between the eyes), and hearing loss (difficulty hearing sounds and understanding words well). There is no cure for it, but its symptoms can be treated and monitored. Physiotherapy, for example, can benefit the joints and spine, while surgery can reconstruct the cleft palate.
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Emma’s strength
“My daughter was born with her knees completely turned backwards – Enrico, Emma’s father tells us – She was operated on to bring them back into place when she was only 30 days old, but they still weren’t able to position themselves correctly”. In addition to the problems with her knees and left elbow, Emma also suffered from severe hypoacusia, corrected with hearing aids, and at her birth she had severe breathing difficulties: her retracted jaw blocked her glottis. “From the time she was born, in September, until December, she remained on a respirator just to keep the glottis open, and underwent seven maxillofacial surgeries. Then, finally, she was able to breathe on her own – explains father Enrico – We stayed in the hospital for almost seven months and then another six months in the community. We are back home after more than a year.”
In all of this, Emma has always shown herself to be very strong. “The doctors kept telling us that she responded well and that she underwent the various operations without batting an eye – continues Enrico – This stubbornness remained with her even afterwards: Emma knows what she wants and tries to get it, and if she doesn’t succeed, she tries to find a way to overcome the obstacle and achieve the goal”.
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The adventure of swimming
This determination of his has always shown even in swimming, which he has been practicing since he was 5 years old, obtaining great benefits in strengthening the muscles and for the spine. “The therapeutic results were immediately important – Enrico says – so much so that we were advised to suspend the physiotherapy in the clinic to continue only the one in the water”.
So Emma becomes passionate about swimming and decides with her parents to practice it also at a competitive level. In fact, since September 2021 you have been part of a group of Polha Varese, an amateur multi-sports association for the disabled. “Obviously, it wasn’t easy at first. She wasn’t very strong in terms of muscles and in the first competitions she was very tired – continues her father – But then, from one hour and a half training a week we moved to two and finally three a week. In short, for her a great physical effort which, however, paid off in a big way, because it helped her to improve, to start the season that culminated with the records in the best possible way, and above all to increase her self-esteem ”.
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In swimming Emma has found her dimension. “If I only think back to the difficulties of past years, when we were told that the child would probably remain bedridden forever, seeing her sitting today, eating and drinking, standing with the help of braces, walking short distances with a rear walker, and swimming like that, it seems truly incredible to me – Enrico underlines with a smile – Emma, now, often goes away alone for away matches, she has learned to pack her bag for the trip, to organize her study rhythms for school, to be increasingly aware of the fact that he manages to do many things independently”.
I record battuti
This self-confidence has certainly helped her to achieve sporting successes as well. “In the 100m freestyle race she got off to a good start right away – says the father – When we saw her overtake the second and first athlete, we immediately thought she would make it. But the biggest surprise was seeing the race time on the scoreboard. She had surpassed the previous record, 2:13.36, with a time of 2:11.83. A script that was then repeated also in the 100m breaststroke, where she won with a time of 3:01.58 beating the record 3:04.44”.
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And now, what will be the next competitive goal? “He will always try to maintain this level and improve – concludes Enrico – But if he continues like this, I believe, and we hope so, that in a couple of years the goal to reach could be to participate in the European youth championships”.