She chose to wear a little black dress with stars and white clouds because she knows she will be photographed for a newspaper. And so, flirtatious, with picturesque braids, Alma (7) waits sitting in the living room armchair next to Pequi, the adopted puppy, and her brother Amadeo, the little whirlwind of 17 months. Scene supervised by Sol Rizzo, his mother, and Diego Andriani, the father, who attends to household issues.
Alma was born in 2015 with Osteogenesis Imperfecta (OI), known as "the disease of the glass bones", a rare pathology characterized by extreme bone fragility "that in severe cases is discovered during pregnancy through an ultrasound. And if the sonographer is seasoned, he could warn her from the 14th week of gestation, detecting curved and short lower limbs and fractures, "says Cristina Tau, pediatrician, specialist in bone metabolism
"We found out in the seventh month of pregnancy and it was a bucket of ice water. Everything was going well and in a 4D ultrasound in which we wanted to see the little face I was struck by the size of the femurs, smaller, compared to the rest of the body, "recalls Sol, with an unconcealable gesture of anguish.
"I'm happy with my glass bones," says Alma, between her parents Diego and Sol, and her little brother Amadeo.Photo: Fernando de la Orden
Maternal instinct, intuition of a new mother, you know what, but Sol had made a noise about that image and she let the ecographer know who, offended, almost took her out carping. "Those mothers who search the internet, they think they know and say anything," said the specialist.
Sol let it pass, he would return the next day in case the inconvenience was technical, of the device, but before the ecographer, out of all protocol, experienced "a shaking in the belly trying to get Almita to move and change position. It was invasive, I felt violated." Too many hot flashes.
The next day, together with her husband, they returned to the Diagnostic Center and Carlos Canetti himself, owner of the institution, carried out a new ultrasound to clear up doubts. "Already when I saw Canetti I thought 'mm, something is not right' and, as I supposed, it was found that between the limbs and the rest of the body there was six weeks difference in their development."
The images detected that in the belly Alma had curved and short bones. "I remember it was a Friday, September 18, 2015 and the shock we had deepened when we remembered that our obstetrician was not in the country."
Alma has her adopted puppy Pequi.Photo: Fernando de la Orden
It is not to sit idly by Sol, who despite the shock was not daunted and began to investigate on the internet all weekend. "I saw medical papers, definitions, until I found on youtube an ultrasound of a fractured baby and following the images of a video I noticed a certain resemblance and discovered a disease unknown to me: Osteogenesis Imperfecta (OI). I told Diego, my husband, I told him that Alma had broken bones and he said: 'It can't be! How is a baby going to fracture his belly?'"
Restless, almost obsessed, Sol came to the diagnosis before the doctors. His dedication of that weekend in 2015 was confirmed on nothing less than Spring Day. "In a new consultation with an obstetrician of a friend, he first told me about skeletal dysplasia and when I went to the point and asked him if it was osteogenesis imperfecta, he opened his eyes surprised, he thought I was a doctor and ended up recognizing that I took a weight off his shoulders. "
Specialist of the disease, Tau says that "it is hereditary and is characterized not only by bone fractures, but also by deformations. The presentation is very varied, from mild to severe, it is a rare disease due to its frequency, the incidence is 1 in 10 thousand in mild cases and 1 in 100 thousand in severe cases. Alma's is type 3. Severe.
With different events that will be held to disseminate and raise awareness, this Saturday is celebrated the Day of Osteogenesis Imperfecta.
What factor causes it? "A genetic alteration of the collagen molecule, which is the main protein of the bone matrix. This protein, being mutated, does not allow mineral containment and the bones fracture and deform," says Tau, former President of the Argentine Association of Osteology and Mineral Metabolism.
The doctor makes it known that "there is currently no cure, however there is a medical treatment with intravenous bisphosphonates, which strengthen the skeleton, reduce the number of fractures, improve the quality of life of patientswith excellent results, provided that it is started very early. " And he makes it clear that "without treatment, patients like Alma would have between 3 and 6 fractures per year. With treatment, one, maybe two."
Tau, who has been monitoring Alma for several years, emphasizes that "it is very gratifying for the professional to witness the evolution of these children in medical and orthopedic treatment. Patients like this little girl should always perform kinesiology, they are advised to swim and physical activity according to their possibilities."
Tau emphasizes that it is important to disseminate and know about a disease of which little and nothing is known, so what better than to raise awareness this Saturday, when the Day of Osteogenesis Imperfecta is celebrated worldwide and different events will be held to publicize details about the disease.
"I'm happy with my bones"
The chorizo house on Santo Tomé Street, in Montecastro, works like any other day. Diego is in charge of entertaining the active Amadeo, Pequi goes up and down a comfortable puff, while Alma manipulates a cell phone with games and looks sideways at the camera that registers her.
In November 2022, after a complex operation, Alma had two nails replaced in her femurs after one of them bent and broke. "It was one of those traumatic moments that we had to endure, but it came through with all our support," recalls Sol, and the end of the year holidays come to mind with her daughter in bed.
Alma is 7 years old and suffers from Osteogenesis Imperpecta, to a severe degree, which affects not only her bones, but also her size. Photo: Fernando de la Orden
Sweet, friendly, mature to express herself, Alma leaves aside the initial shyness, and is encouraged to dance before the cameras of Clarín. He walks with a slight difficulty, it is true, but he is in full recovery. In distances of more than two or three blocks he travels in a wheelchair, which he also uses at school when he must cover a longer route.
Alma says she doesn't like to be called Almita, at most Almi. And he has no problem talking about his illness, which he carries with a surprising adulthood. "What bothers me most about what I have is being the shortest in my grade and looking even smaller, but I'm really not."
Think of a little friend and frown. "I don't like him to joke about my height... Nor that he asks me why I am so short. What do I say? Which is because I have a diseaseand she walks away as if she were contagious," he explains as if he were reading a story that ends with a happy ending. "Friends don't carry me and she apologized."
Sitting in the armchair, caressing Pequi, Alma smiles, transmits peace. A little away, Sol looks at her with eyes of love, pride and self-denial. "It's not easy to be behind, because she can't run, jump, play with her brother physically, because the risk of breaking a bone is latent. But at the same time she is a 7-year-old girl, who knows what she has, takes care of herself, but she is still a girl who likes to play."
"I like to play, jump and dance but I know that for now I can't, I have to take care of myself," says Alma (7). Photo: Fernando de la Orden
Play, the verb that Alma regrets the most and, also, her family. "Almost all the birthdays are in baseball players and now I can't go. Before the operation yes, but I went in with my mom, who took care of me so that no one pushed me, but now I have to be very careful... It makes me sad that my friends do not celebrate in another way or that mothers do not think of me to participate in the birthdays ... How? Making board games, I love them."
They are all known to Alma, who due to her premature illness has developed intellectually. Due to family influence, since she was two years old she loves to sing and dance, and since she was a child she repeated that she wanted to "heal her legs to one day be able to do it alone. Now, mmm, I can't, although I try to dance a little, more with my hands than with my legs," excites the girl who sometimes uses a walker when she intensifies some movement.
In 2020 and 2021 Alma gave herself the pleasure of practicing dance by taking private lessons. She was able to fulfill that long-awaited dream, "but I felt a little angry, because I knew I couldn't jump or make turns, nor group classes because sometimes the little kids, unintentionally, could hurt me ... That's why when I get well, there's the possibility of taking classes with older people, who would take care of me."
While Sol searches for a song by Shakira, Carol G, or Jenna Ortega's dance in "Merlina" on her phone, Alma slips: "I dare to show you a little how I dance, do you want to see?" He leaves the couch and walks to the center of the living room and gives orders to his mother to keep the cell phone close so she can follow the choreography.
It starts with a touching concentration. He opens his arms, makes circles in the air, extends them, then raises them and lowers them again contouring his little body and without taking his eyes off the phone screen. All with great neatness, to the rhythm of the adagio that sounds and with the fresh technique of having learned dances. He looks at his mother, seeks approval, and then observes, with authority, this chronicler. Shy, she returns to the couch. But it stops again.
Now you can hear the promoted song by Shakira and Bizarrap. "Shhh", Alma asks for attention and at the right moment, following the images on youtube, she prints rhythm with those little arms that vibrate to the beat of the voice of the Colombian. She turns her head, clutches her braids, gestures as if playing the piano and greets the "audience" smiling playing with her dress.
Night falls in this picturesque family home where the routine is imposed and was postponed by the visit of Clarín. "Anyway," Alma resumes, in case there were any doubts, "I'm happy with my crystal bones, uh, I'm fine. The only bad thing is that I'm small but I don't care, I don't care what others say... Yes, know that I am the same age as them, only I am a little shorter. But I'm fine and I'm recovering."
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