Vivienne Weil was an unusually quiet child.
"He never cried loud enough to bother us," recalled Natalia Weil of her daughter, born in 2011.
Although Vivienne stammered vigorously in her early months, her vocalization diminished around the time of her first birthday. So did the quality of his voice, which went from normal to roca to little more than a whisper. Even Vivienne was a late talker: she didn't start talking until she was 2 years old.
His Maryland suburban pediatrician initially suspected that the respiratory infection was the cause of the child's hoarseness and advised patience. But after the problem persists, the doctor diagnosed acid reflux and prescribed a drug to treat reflux problems caused by the voice.
But Vivienne's problem turned out to be much more serious – and unusual – than excess gastric acid. The day he learned what was wrong ranks among the worst of Weil's life.
"I had never heard of it," Weil, now 33, told his daughter's diagnosis. "Most people don't."
Reduced to a whisper
Initially, Natalia, a statistician, and her husband, Jason, a photographer, were reassured by the pediatrician, who blamed a respiratory infection for her daughter's voice problem. His explanation seemed logical: young children get an average of seven or eight colds at year.
Weil said the couple thought that Vivienne's voice would return to normal and did not want to overreact.
"We were parents for the first time and we were worried," said Weil, "but we thought that maybe we were too worried and had to wait. We decided to give him time. We didn't know how many children had to speak at the age of 1 or 2 years … We just did what the doctors told us. "
But Vivienne's paternal grandmother became increasingly worried. Since Vivienne spoke slowly, her grandmother wondered if she could have a developmental delay or a language problem and suggested an assessment by a speech therapist.
During a visit in September 2013, the pediatrician prescribed a liquid antacid for 2 ½ years of age. The doctor also approved a referral to an otolaryngologist specialist.
An ENT who saw Vivienne shortly after diagnosed her with dysphonia – an altered voice that may result from a problem with her vocal cords. He sent her to a pediatric otolaryngologist for a more complete evaluation.
The pediatric specialist listened to breathe and speak and then planned a laryngoscopy. The test involves a visual inspection of the back of the throat. In some cases, doctors use a thin, flexible tube connected to a tiny fiber-optic camera that is screwed onto the nose and the bottom of the throat to allow inspection of the upper airway.
The procedure, recalled Weil, was traumatic for Vivienne and her parents. The child, terrified by what was happening, started screaming and had to be held by several nurses so that the doctor could perform the test.
His results were definitive and explained the reason for Vivienne's prolonged lack of voice. He suffered from a rare disease called recurrent respiratory papillomatosis, caused by two strains of the human papilloma virus (HPV), a sexually transmitted infection that can be acquired at birth or before birth. The disease is incurable; it can be treated surgically to remove tumors that temporarily restore the voice. The goal of treatment is to lengthen the interval between surgical procedures, preventing permanent damage to the delicate vocal cords.
A painful answer
The HPV is omnipresent; almost all sexually active adults have been exposed to it. Most people clear the infection from their bodies without ever knowing they have it. But in some cases two strains, HPV 6 and 11, can cause genital warts: benign tumors, sometimes cauliflower-shaped known as papillomas. These warts can occur months or sometimes years after exposure.
In some cases, mothers with genital warts can pass the virus during childbirth, resulting in the development of papillomas in the child's airways, particularly in the larynx. (Two other strains considered "high risk" – HPV 16 and 18 – can cause uterus neck cancer. HPV can also cause oral, anal and penile cancer.)
The Centers for Disease Control and Prevention estimates that 2 in 100,000 children have a RRP, which can be prevented with a vaccine called Gardasil. Federal health officials recommend administering the vaccine, licensed in 2006, to children 11 or 12 years old before they are sexually active.
The pediatric ENT told the Weils that it was a good thing that they had not waited longer to seek treatment. Vivienne's tumors had become so large that they threatened her airways.
"I was speechless," recalls Weil, who was pregnant with her second daughter at the time. "I thought, & # 39; I gave this to my baby. & # 39; I remember sitting in that small room and thinking, & # 39; Will have to deal with this forever & # 39;"
Weil said he had no idea that he had ever had genital warts or that he had been exposed to HPV. In the car, on his way back to their home in Maryland, he said, crying as he ran into his phone, frantically trying to know the disease, terrified that his second son could contract it too.
Shortly before Vivienne's first intervention in November 2013, Weil sought answers from his obstetrician. How, he asked, could the HPV have been lost?
The doctor replied that the Pap tests performed in 2009 and 2011 were normal. Health officials do not recommend that women under 30 – Weil was 25 when Vivienne was born – usually receive an HPV test because the virus is so common.
"It is possible that you had the virus and then your immune system eliminated it, so your test was negative in December 2011" – 10 months after Vivienne was born, the doctor wrote.
Nor is it clear that a caesarean section would prevent the disease. Experts say some cases appear to have been contracted in utero.
Because of her age, Weil was not included in the initial vaccine targeting efforts, which focused on preadolescent girls. (Federal health officials recently approved the latest version of the vaccine, Gardasil 9, which protects from nine HPV strains, for adults up to 45 years.)
Vivienne's first operation, performed under general anesthesia, involved debridement, a procedure that essentially eliminates tumors.
Weil said he remembers entering the recovery room with her husband to hear Vivienne "crying noisily. It was great," he recalled. "For us it was the best sound in the world."
But as is almost always the case, Vivienne's voice faded into a whisper after a few months as the tumors grew back. For the next few years it has undergone simultaneous debridement of both vocal cords every four to six months.
In March 2018, after his eleventh operation, his voice did not return. No physical explanation was found and the doctors suggested that the cause could derive from the weakness of the vocal cords or psychological factors. In the following six months, Vivienne underwent hypnosis and saw useless speech therapists.
In desperation, Weil published a video of his daughter on Instagram. He hoped someone – maybe another parent – could have some advice.
In a few days, a California woman whose daughter has the disease suggested she try a different treatment. Instead of debridement, he advised finding a doctor who uses a potassium titanyl phosphate (KTP) laser. Some specialists believe that the use of laser is superior, because it removes more tumors by minimizing damage to the vocal cords.
"I've done a lot of research," Weil said. He found Simon Best, an otolaryngologist and researcher at Johns Hopkins who studies the disease and is an expert in laser treatment.
Weil said he tried unsuccessfully to make an appointment with Best, but was told that he is not a pediatric otolaryngologist and therefore does not treat children.
Undeterred, she looked for a medical database, brought up her e-mail address and sent him a message describing her daughter's case.
The best thing was to see that Vivienne and Weil's insurer approved the offline visit.
& # 39; Happy, babbly little girl & # 39;
The best, an associate professor of otolaryngology, estimates that in his 13-year career he has treated about 100 people, mostly adults, who have RRP. (An adult specialist treats patients of all ages with the disease.) Some developed the disease as a child. In others, it emerged between 30 and 40 years, about a decade after HPV exposure.
"He has a horrible propensity to keep coming back," said Best. One of his patients had undergone 300 operations at the age of 20. "You can imagine what it can do to improve the quality of the voice."
Best treats only one vocal cord at a time to prevent weaving, which occurs when the vocal cords grow together and can damage the voice.
"I was pleasantly surprised that there was not a great deal of scarring," said Best of Vivienne, who first saw her in September 2018.
The first laser intervention on the right vocal cord of the second grader took place in November 2018; his voice returned, but remained hoarse. A second operation on the left vocal cord in January 2019 had excellent results. A few days ago Vivienne underwent a successful procedure repeated on her right.
"This is the best I've ever played," his mother said, adding that even the noise of his daughters' quarrels delighted her.
In recent months, he said, Vivienne has blossomed, making new friends and becoming a "happy and muggle girl".
"He says that having a voice is even better than he thought it would be," Weil said. A year earlier, he had told his mother that several classmates had ruled out of their "cheerleader" game.
The best thing is that a vocal problem that lasts more than a month should require the examination of "someone who can visualize the larynx".
"It is difficult to predict how many surgeries are needed in Vivienne," he said. It is unlikely that they are only three because recidivism is the rule. "Everyone has a unique clinical course," Best said.
"The previous RRP is detected, the better," Best noted, before the disease could do extensive damage. "It is often overlooked for quite long periods of time – months or years. And it does not enter the realm of diagnostic consideration in children until there are serious enough effects."
The otolaryngologist remains a strong supporter of the HPV vaccine, which can prevent the disease. Weil said he plans to immunize his daughters and get the vaccine alone, which could protect her against other HPV strains.
According to the CDC, only half of American adolescents have been completely immunized. In contrast, Australia, which has promoted free immunization in schools for more than a decade, has dramatically reduced cases of cervical cancer and genital warts.
"Even if RRP is a rare disease, only from a psychosocial point of view, you can imagine what effect this disease has on families," says Best. "The mothers of these children have a great burden to bear".
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