Today, World Rare Disease Day is celebrated, in which the 75 percent of patients are children. Understanding each disease and knowing how the day-to-day life of these little fighters takes place helps us to become more aware of the problem and to give our support to the families that are going through it.
From Babies and More, today we want to name Legg-Calvé-Perthes disease, a rare disease that this time has the name of Gonzalo, a three-year-old boy who has been struggling with the consequences of this disease for months. We have talked to Ana, her mother, who has told us how it all started and how the diagnosis has affected the family.
It all started with a simple limp ...
Gonzalo had had a completely normal development and similar to that of children his age. His mother tells us that they never saw in him any sign of alarm until in May of last year, days after his third birthday, he left the nursery with a slight limp.
"We consulted him with his pediatrician and, at first glance, everything made us suspect that it was a synovitis. Nothing made us doubt since he had just passed the typical spring cold and had taken an antibiotic, and synovitis can appear after these two factors. "
"In addition, the previous Christmas had had a similar episode and in emergencies they gave us the same diagnosis. A few days after taking Dalsy the limp had remitted. So we thought it would be the same."
"But the days went by and the limp didn't remit. The poor man was resting at home, in his bed, or sitting on the high chair, but we did not notice any improvement. So after a week I decided to make an appointment with a child traumatologist "
An early diagnosis ... and bleak
Ana's concern to see that her son did not improve with rest and anti-inflammatory led him to request a new medical opinion just a week after being diagnosed with synovitis, but he never imagined that from that moment on their lives would take a radical turn.
"It was Friday, June 2, and I remember it as if it had just happened. That day, the world, my world, stood up to these four words: Your son is sick.""The consultation was very cold. The doctor sent him an X-ray and when I brought him the results of the plaque again, he said: "I was afraid of it. This is not a synovitis, it is a Perthes syndrome, from the book."
"I was terrified. I looked at him dead in fear but in reality my head had just disconnected, and my heart was going to two thousand an hour. The doctor asked me if I worked, and in answering that he did tell me:
"This child is going to require almost absolute rest for the next 2 or 3 years. He will not be able to move, and we will have to put some irons that immobilize his legs from the chest to the ankles, but don't worry that in 4 or 5 years he will be more recovered. "
That sentence pronounced with so little tact plunged Ana into a deep state of anxiety and nerves and, as she says, "He felt as if they were throwing a bucket of ice water on him".
"The pain in my soul that I felt at that time was terrible. I was drowning in the idea of thinking that my son would not be able to move during the next few years and that he was going to have to be bedridden with irons from foot to chest. I just managed to look at him and cry ... I didn't know what to say " - Ana remembers excitedly.
Perthes syndrome. Three words, a diagnosis and a desolate family.
What is Perthes syndrome?
As they explain from the Association of Families with Perthes (ASFAPE), it is a vascular disease that affects the head of the femur. When not enough blood flow to the bone, it is necrotic and fragmented, and then regenerates again.
"The bone is like a plant, which if it does not water, it dies" - Ana does not metaphorically explain.
The disease, which affects exclusively during the infant stage it has a higher prevalence in men, and although it can manifest between the ages of three and twelve, most cases occur around six or eight years of age.
Legg-Calvé-Perthes disease is classified as a rare disease, has a registered incidence of between 1 per 10,000 children and in 19% of cases several affected are diagnosed within the same family, although there are not enough studies to determine If it is a genetic disease.
The main symptoms include lameness, stiffness in the hip, movement restrictions and pain in the knee, groin and thigh. The early diagnosis of the disease is essential to achieve greater chances of recovery, and In 80% of cases the prognosis is good.
The light at the end of the tunnel
After that first bleak diagnosis, Ana and her husband they decided to seek a new opinion and then they found a doctor with great empathy, who told them about the disease in a detailed and hopeful way.
"He told us that it was a long and heavy disease, but fortunately he had a cure, and that our son's prognosis was very good because of his young age and his condition ".
So, after one stage of acceptance of the diagnosis and many tears, Gonzalo's parents decided to seek help in the ASFAPE Association, where they found information, emotional support and, above all, understanding.
"ASFAPE was the light in the tunnel. In the association we are up to date with any news, and above all you feel very understood because all of us who are part of it go through the same. Elena, its president is tireless and together with other partners she does not stop organizing talks, congresses, meetings, all for continuing to investigate and inform families. "
"Ignorance of the disease and what it means for your child's life involves a lot of fear and frustration. That is why it is important to avoid looking for the right help."
How is a day in Gonzalo's life?
Ana tells us that, despite everything, they feel very lucky because Gonzalo's diagnosis was early and this has avoided drastic measures, such as immobilization of his legs, the use of a wheelchair or even the passage through the operating room.
"After diagnosis, your balls, his skate and his motorcycle disappeared from home. We change all that for short walks that will not tire you too much. In addition, we made a cushion as it helped keep your legs as wide as possible while watching TV, or sitting "
"Most days my child can live a more or less normal life, given that can't run or jump. What is worse is the drastic changes in temperature; They affect him a lot and cause him pain. Nor can you overdo walking and you have to be careful with the positions because you soon resent "
"When you have a bad day you can quickly notice: he starts to limp and doesn't feel like doing anything because he feels so much pain. In those cases the treatment is rest and anti-inflammatory "
Too at school Gonzalo's habits are different from those of the rest of his classmates, and professors and caregivers turn to him continuously watching over his state of health.
"It is essential that the school is up to date from the beginning. He spends many hours there and it is important that they watch that he does not run or jump, and that he is well. In the courtyard he has been named" watchman ", and they have put a yellow vest, accompanies the teacher in the guard and helps him to control that everything runs normally during recess time, he is delighted with his position, although sometimes He wants to play with the rest of the children and doesn't understand why he can't do it"
This is how Gonzalo should sit in class, to help combat the effects of this disease How does the diagnosis of this disease affect the family?
The children are especially active and they have an energy and a vitality that involves everything. They love to run, jump, chase a ball, ride a skateboarder, climb a tree ... It seems they never get tired and are always willing to embark on adventures.
Therefore, it is not difficult to imagine what can involve the diagnosis of Perthes syndrome in the life of a child and in his family.
"We are always waiting for you not to run, don't jump, don't hurt yourself ... Can't have a normal life, like that of any other child his age. Its limitations are ours, although we try to make it live in the best possible way ".
"It is difficult for a three-year-old child to understand why he cannot do the same as others. Why he cannot go behind the ball, jump in a puddle or run with his friends"
However, Ana does not want to think about the negative of this disease, and then looks for the positive part of the hard test that life is facing:
"Thank God, Gonzalo's prognosis is good. We cross out stages in each review, which is usually every four or six months. Doctors always tell us that it is a disease that physically affects children and psychologically parents, and they are very right. In completing the phases it will take several years and logically it becomes hard"
But we cannot forget that, unfortunately, as Ana tells me, very little is known today about this disease, its origin or the possible future consequences. Therefore, this mother keeps thinking about all the children who have a worse prognosis than Gonzalo, who do not conceive their day to day without a wheelchair or who have undergone several surgical interventions.
"From ASFAPE, we are aware of the reviews of all these brave little ones, their achievements or the setbacks of their recoveries. Because they may not be able to run today, but tomorrow they can fly"Pixabay Photos
In Babies and More Rare is the disease, not the child: World Rare Disease Day 2018
