Prader-Willi syndrome is a rare genetic disorder that causes obesity, intellectual disability and short stature
Summary
A 2-year-old girl has been diagnosed with Prader-Willi syndrome, a rare genetic condition that causes insatiable hunger and requires dietary adaptation, multidisciplinary treatment and difficulty accessing medical support.
Just a month ago, the family of 2-year-old Melinda Paulo Lima Machado discovered the reason why the little girl never feels full after eating: Prader-Willi syndrome (PWS). Faced with the diagnosis that explains the “insatiable hunger” of their daughter, who already weighs 15 kg, the parents are now committed to understanding the rare condition, guaranteeing a better quality of life for the little girl and seeking hormonal treatments essential for her development.
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In an interview with EarthPhotographer Darlene Paulo, 34, Melinha’s mother, said her daughter was born with markings that immediately caught attention. “She was born tender, she didn’t cry at birth, and even in the maternity ward she had a lot of difficulty breastfeeding. In the end she came out of there drinking milk from a cup,” he recalled.
According to Darlene, Melinda also had delays in motor development. It took him a while to sit up and, until he was one year old, he still couldn’t crawl. “Shortly before he turned 1, we already realized that he would have a physical delay. On medical prescription, we contacted the health service to start developmental physiotherapy. Since it was very difficult to receive treatment, we initially had to pay for private sessions. He progressed well, but was already showing a greater delay,” she reported.
Based on persistent signs of developmental delay, the family decided to investigate the cause. After many difficulties with the health plan, they managed to carry out a genetic test, which confirmed the signs already observed: hypotonia, exacerbated hunger, metabolic changes and overweight.
Prader-Willi syndrome is a genetic disease caused by the deletion of part of chromosome 15 inherited from the father. According to Rede D’Or São Luiz, the condition causes obesity, intellectual disability and short stature. The syndrome affects the hypothalamus, a small region of the brain responsible for the adequate production of hormones (such as growth hormones, thyroid hormones and oxytocin), as well as the regulation of mood, sleep, libido and the control of feelings of hunger and satiety.
It is a rare disease, affecting fewer than one person in every 15,000 births. The main disorder is the so-called “insatiable hunger”, which leads those who suffer from it to eat compulsively. The main cause of the syndrome is a random, rather than hereditary, genetic error that occurs during the formation of gametes. The condition is considered the main genetic cause of childhood obesity. In carriers, the copy of the maternal chromosome is maintained, while that of the paternal chromosome is deleted.
Adapt routines and challenges
According to Darlene, the real changes in the family routine only began after Melinda’s diagnosis. Since then, the child’s diet has undergone a transformation and the family is still adapting. “It’s worked for now, considering insatiable hunger tends to get much worse after age 4,” he said. Currently, the girl’s calorie intake has been reduced and she undergoes physical therapy weekly, which has helped her control her weight.
The photographer, originally from Acre, said the family had already investigated the girl’s physical retardation even before the diagnosis. However, they faced great difficulties in accessing specialists, especially through the health plan network. “Some specialties required prior authorization for reimbursement, which significantly delayed both diagnosis and initiation of treatment,” he explained.
Faced with these limitations, the family decided to move to Florianópolis, Santa Catarina, in search of better medical support. Despite the change, it is still “difficult to obtain some specialties.” Therefore, the family organized a lottery to create a financial reserve, to be used in case of emergency, requests private services, tests and medicines that cannot be delayed.
There is no cure for Prader-Willi syndrome, just as there is still no treatment capable of repairing the genetic alteration that causes it. Treatment must be conducted by a multidisciplinary team, composed of paediatricians, endocrinologists, neurologists, physiotherapists, speech therapists, pedagogists and occupational therapists, with the aim of improving the patient’s quality of life and alleviating symptoms.
The use of growth hormone is considered essential for improving the child’s muscle tone and physical development. However, the cost of treatment is high. According to Darlene, the family hasn’t even received the prescription yet.
“Since it is a hormone and a controlled drug, to obtain this prescription it is necessary to carry out a series of tests which we are finalizing. Only then will we begin the battle to obtain the hormone,” he said.
“Lack of interest and protocol”
Darlene also talks about the reality faced by families of children affected by rare diseases in Brazil. According to her, both the Unified Health System (SUS) and private plans fail to provide adequate reception and monitoring. “The truth is that there is a lack of interest, not only in treating Prader-Willi, but also in other genetic syndromes and rare diseases,” he said.
For the photographer, the absence of specific diagnosis and treatment protocols makes access to specialists difficult and delays the start of interventions. “What currently exists, even in the private medical network, makes the routine of families extremely difficult.”
Once the diagnosis was confirmed, the family’s routine had to be completely changed. “Her daily life is regulated, like that of any child, but in Melinda’s case it is even more rigid. We have total control over our schedules and live with constant tension due to hunger between meals, in addition to behavioral changes,” she explains.
But the challenges go beyond diet. The syndrome also involves physical limitations and behavioral changes that affect the quality and length of healthy life of sufferers.
The mother also says the family’s adjustment has been constant and not always easy. “The one who suffers the most is his brother, who is 9 years old. He has to accept the changes and contribute to the process. But we are learning together,” he says.
Faced with so many obstacles, Darlene leaves a welcome message for other parents now diagnosed with PWS. “We are not alone. There is understanding between parents. Even though we are few, we are united to fight for our children’s demands, together with the Brazilian Association of Prader-Willi, which offers tests and brings information and hope for a better future.”
Source: Terra
Rose James is a Gossipify movie and series reviewer known for her in-depth analysis and unique perspective on the latest releases. With a background in film studies, she provides engaging and informative reviews, and keeps readers up to date with industry trends and emerging talents.
