Angel is a nine year old boy with achondroplasia and things very clear. A few days ago, his older sister interviewed him for a school job and his answers left everyone surprised by the maturity and naturalness with which he talks about his condition. In a nutshell, it gives us all a lesson in greatness.
You may not be aware of it, but thanks to him, many people will be able to learn more about the achondroplasia, a genetic disorder of strange name that affects bone growth and occurs in one in 25,000 newborns.
Small but very big
In just two minutes, this kid speaks boldly and makes it very clear that the greatness of a person has nothing to do with his height. He is a normal child, like any child of his age, with a particularity that he has completely assumed as part of him.
"I would not like not to have achondroplasia"What is achondroplasia?
Achondroplasia is a term little known to most, but this genetic condition is the main cause of dwarfism (in 70 percent of cases). It occurs in all races and in both sexes and it is estimated that there are some 250,000 achondroplastic people worldwide. In Spain, it is estimated that there are between 950 and 1050.
It is produced by a genetic mutation that affects bone growth and is characterized because all long bones are symmetrically shortened, the length of the spine being abnormal, which causes a disharmonic growth of the body.
The most characteristic features are visible at birth: short stature, short legs and arms, short neck, large head, prominent forehead and dental crowding, among others. This body disproportion, in addition to hypotonia (decreased muscle tone) has an impact on the acquisition of motor skills of achondroplastic children is slower than in children who were not born with this condition.
Achondroplasia is not just a height problem. The mutation affects all bones. Major complications come from issues not always related to height. The most commons are:
- Hearing loss
- Spinal compression problems
- Hydrocephalus
- Sleep apnea
- Maxillofacial malformations that cause swallowing and speech problems
- Obesity
- Joint degeneration
- Babies with achondroplasia have a higher mortality than babies without achondroplasia
According to the ALPE Foundation that provides support and assistance to families of children with any form of dwarfism, there is only a slight decrease in life expectancy compared to the general population, especially due to cardiovascular disease.
Inheritance is autosomal dominant, and in 80% of cases it is due to a mutation in children with parents of average height.
Unfortunately, as with other conditions that cause disability, history has not treated achondroplasia with the dignity it deserves. It is important fight the social stigma that surrounds it, since today it is a disability that still causes laughter and this is "the only thing that hurts to have a different child".
Having a child with achondroplasia
The video you see above was shared on Facebook by Blanca Toledo, mother of Angel, who have we interviewed to learn more about its history.
They knew that Angel had achondroplasia at the last routine ultrasound of his last pregnancy. In most cases, it is diagnosed in the third trimester of pregnancy by detecting in the baby an abnormal growth of the bones and a cranial diameter greater than normal.
"Dwarfism compatible with achondroplasia" was the devastating diagnosis. "The worst moment in the entire history of Angel was from the diagnosis until his birth. You think about many things, you think that life will change and you will not be able to do it," recalls Blanca.
The birth
His mother remembers the day of his birth as "One of the most peaceful days I remember in my life". "The unknowns had been cleared and I was already there to start the journey together."
"Now I had a child who required our ingenuity and know how to make the most of his potential. Actually this is so with each of my children, but it seems that with him we can not leave any loose ends," said Blanca a few years ago in a presentation for the ALPE Foundation.
The firsts years
Due to the delay in motor skills, Angel took his first steps much later than other babies. He started walking at 2 years and 7 months.
Then came the incorporation to the school (he attends classes in the same center as his sisters) where from the first moment they have been interested in treating him normally considering their particularities.
"He is a very sociable and affectionate child, which makes him loved and appreciated by his classmates"
"He is a very sociable and affectionate child, which makes him loved and appreciated by his classmates. When he started school, the whole center knew him and the elders greeted him all the time. For him it was curious that everyone told him it was a crack and it was great. On the one hand it has always been very reinforced by its popularity in school and on the other it has an overestimate that you have to work. "
How was your development?
"His cognitive development has been better than that of his peers, he learned to read alone and has always liked to learn. However, the delay in motor skills, fine and thick makes the performance of jobs always more tired than for his comrades. His lyrics are improving, but let's say he's a bit of a bungling in his drawings and presentation. "
"He currently goes to swimming and physiotherapy, but in the past he has done many activities aimed at improving your muscle tone, maintain posture and improve fine motor skills (early stimulation, speech therapy, aquatic therapy, karate, osteopathy, ozone therapy, acupressure, etc.) "
The support of his sisters
The arrival in the family of a baby with achondroplasia affects the whole family, and in this there were also two older sisters, who are now 13 and 11 years old. When facing the education of their daughtersBlanca and her husband made it clear:
"The sisters were 4 and 2 years old when Angel was born. The fact that they have always been happy with the situation means that they have never experienced it as a dramatic situation. Angel has been a beloved child from the first minute and the subject has always been discussed naturally, in general we have taken every opportunity to normalize your achondroplasia".*
"Angel has been a beloved child from the first minute and the subject has always been talked about naturally."
"In general, lin relation to the three is similar, children understand quite intuitively what help needs Angel may have and in most of the time I don't notice a difference in treatment. At school, teachers are always surprised at how Angel's classmates know him, help him in what he needs and go from him to what he doesn't. "
What would you say to parents who receive the diagnosis of an achondroplastic child?
"I would tell you this next child they will love him (Sounds silly, but my husband's biggest fear was to reject him) same or more than any other they had, that they are going to forget that it is one way or another. "
"Today this video has made a couple, 32 weeks pregnant (who thought they were aborting) now with a delicious baby in their arms."
"Angel asks me many times how he would be if he were not achondroplastic, and I always answer that it would not be him, that he is the complete pack. At the beginning you only think that the baby has achondroplasia and everything revolves around that theme, but time makes that subject be replaced by everyday, natural, joys and sadness issues normal and identical to those of another child.
"I would say that it is not going to be the cruel focus of people's teasing. Society is changing, among all we are sensitizing people and every time we are all more tolerant, I have seen Angel enter children's play sites full of children, they all look at him clearly, but after two minutes he is playing with one or the other. I would tell them that they will discover what they are capable of and that it will fill them with pride... Anyway, I would tell you many things. "
We thank Blanca that she has allowed us to use the images of Angel's interview and that she has responded so sensitively to the questions we have asked her.
Photos | Courtesy Blanca Toledo
More information | ALPE Foundation
In Babies and more | One in 33 babies is born with a congenital defect: Guide to prevention
