Irina is a 20-month-old girl who suffers from an ultra-rare disease (according to the WHO ultra-rare diseases affect less than 5 people out of 100,000 inhabitants). It is called congenital insensitivity to pain with anhidrosis and is characterized by the fact that the person who suffers from it does not feel physical pain. Neither hot nor cold. In addition, he sweats very little or not at all .
The impossibility of feeling pain and perceiving temperature lead to those affected inadvertently injuring themselves, often seriously injuring themselves . To make matters worse, the wounds that can be made on the skin take time to heal and bone fractures to heal. As a consequence of the latter, chronic bone infections known as osteomyelitis and a pathology called Charcot joints can occur.
When a person cannot sweat, they are unable to regulate their body temperature. High fever and seizures occur. CIPA, which stands for congenital insensitivity to pain with anhidrosis, can also lead to intellectual disability, behavioral problems, tooth decay, urinary and fecal incontinence.
CIPA is caused by mutations in a gene called NTRK1 . “Irina’s disease is an autosomal recessive genetic mutation. His father and I are carriers of a gene that, when combined, can lead to the disease. Even so, there is only a 25% chance that this disease will occur. We have a 9-year-old girl who we know is not going to have the disease but, nevertheless, she may be a carrier. We are in studies to find out if she carries the gene or not”, tells us Elisabet Rodríguez, mother of the little girl.
The signs and symptoms of this disease usually appear at birth or in childhood. Irina’s mother realized that something was already happening in the pregnancy. “My maternal instinct told me that something was wrong during the pregnancy. When he was born, I already confirmed that something was happening. She was very soft, very hypotonic. He didn’t do what any baby does: he didn’t look for the breast, he didn’t cry… At two weeks after birth, the symptoms of the disease began, which, at that time, we didn’t know about. He had a constant fever. Now we know it’s hyperthermia.” Irina didn’t get her fever down even if she gave her medicine.
Elisabet continues her story: “Two weeks [after birth] the fever spikes began, then the rejection of food began, until she stopped eating completely, she ate absolutely nothing.” Irina had to have a nasogastric tube put in so she could eat. “Now, after a lot of therapy and a lot of work, he does ask for food, but he doesn’t eat. She puts it in her mouth, sucks on it but doesn’t get to eat in order to survive.” The girl now wears a gastric button, a silicone tube placed through the skin of her abdomen that transports her food directly to her stomach.
We ask Irina’s mother if there is a treatment for the disease. “What we have to work with her is that she understands that she has this disease, that she does not feel pain, and what are the things that are going to harm her so that she avoids them. She will never feel pain, the genetic mutation will not be cured ”. The girl has already learned to notify her parents when she falls, however “she points to a part of the body that has nothing to do with the blow that has been given but already relates that this action is going to harm her”, Rodriguez says.
There is no treatment. You have to work on prevention
Irina’s treatment is prevention. “Teach him that he has to keep his fingers out of the door, that he can’t touch something hot because it will burn his hand and he won’t find out. When it comes to showering, she will never be able to shower alone because if she puts the water on too hot she will burn and she will not feel it”. As we have mentioned, at the moment Irina is fed through a gastric button. His mother tells us that when he can do it by mouth, the food will have to be served warm since again he will not be able to tell if it is too hot and his esophagus could burn. “There are many things from day to day that she has to learn little by little to know that they are going to hurt her.”
Little Irina goes around the house with helmets and knee pads and is constantly watched. “We have thermometers in various parts of the house to control the ambient temperature. If we see that it goes above 23 degrees, we are more aware of Irina in case she has hyperthermia, put her in the water, turn on the air conditioning to acclimatize the house to her condition… If it’s hot we can’t go outside except to go to therapy , that we go in the car with the air conditioning. We go to therapy and come back.”
The prognosis of the disease
“ Most, if not all, need a wheelchair in the future. All the blows that are given as children, in the long run, generates osteomyelitis or bone deformation. [] In the long term, it can be expected that fractures, osteomyelitis or Charcot’s joint will be generated, which are recurrent bone deformations, which need surgery, cleaning the bone, even limb amputations, depending on the severity”.
In addition, Irina’s mother tells us that “the orthopedic doctor is filing her teeth so that the bites she does are not so strong. In extreme cases, their teeth are extracted to prevent fingers and lips from being amputated.”
Despite this, Irina’s mother is optimistic and believes that her daughter will be able to be more independent in the future.
world rare disease day
Today, the last day of February, is World Rare Disease Day. The objective of its celebration is to raise awareness and help people who suffer from these rare diseases so that they receive the appropriate diagnosis and treatment. In this way, a better life can be guaranteed.
World Rare Disease Day is celebrated on the last day of February, which may be the 28th or 29th, depending on whether it is a leap year or not. The choice of the day symbolizes the rarity of these pathologies.
Rare diseases, also known as common diseases, affect a small part of the population and usually have a genetic component.
It is estimated that about 8% of the world’s population suffers from a rare disease.
