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As many as 180 different symptoms. Everyone in a different configuration and intensity. Diagnosis? Although more frequent than it might seem, in order to confirm it, one has to wander all over Poland and seek help from many doctors – often to no avail.
- 22q11.2 deletion syndrome (aka Di George’s syndrome, VCFS, CATCH-22) is a genetic defect caused by the loss of a small fragment of DNA in the 22nd chromosome
- It is a rare disease. According to estimates, one in 2–4 thousand children is born with it. children, that is in Poland – nearly 200-100 per year
- In 90 percent. of cases, the defect develops de novo, which means that the parents are not carriers of the defective chromosome
- On February 28 we are leaving the World Rare Disease Day
- You can find more similar stories on the Onet homepage
Down syndrome or 22q11.2 microdeletion?
– Jeremiah was very small already during pregnancy, he was diagnosed with a heart defect prenatally. Even before birth, we knew he had polydactyly, or extra toes. However, no one thought that it could be a microdeletion syndrome – says Marcin Kunica, the father of an eight-year-old boy.
In the 12th week of pregnancy, a routine USG examination was performed and the translucency of the neck was checked – the result was normal. Only the image of the fetus in the mid-examination (week 20) worried the gynecologist, who ordered a genetic test for Down’s syndrome due to a detected heart defect. The result was negative.
In the 36th week, Bogna – Jeremiasz’s mother – stopped feeling the fetal movements and, anxiously, went to the hospital in Karowa in Warsaw, where she was connected to a CTG apparatus. After a while, the line showing the work of the fetal heart began to emit a terrible squeak. The decision was made immediately – the emperor.
– Jeremiah was born asphyxiated, with no signs of life. He obtained 10 out of 0 points in the APGAR scale. There was no poisoning, no signals had let us know about it. We were not yet diagnosed then. First there were more urgent matters.
In Jeremiah’s case, three heart defects were detected: a significant ventricular septal defect (VSD), a ventricular septal defect (ASD), and a patent botal’s duct (PDA). Heart defects are the most common clinical features observed in the 22q11 deletion syndrome. He suffers from them 76-82 percent sick and are the leading cause of death. The most common are tetralogy of Fallot (TOF), interrupted aortic arch (IAA), ventricular septal defect (VSD), common arterial trunk (TAC), vascular ring, and others.
Jeremiah is deaf, he has growth and eating disorders. Until the end of his life, he will have to be under the care of many specialist clinics.
- I waited 15 years for the diagnosis. I am one of 50 people in Poland with Pompe disease
What is 22q11.2 deletion syndrome?
22q11.2 deletion syndrome (aka Di George’s syndrome, VCFS, CATCH-22) is a genetic defect caused by loss of a small piece of DNA in the 22nd chromosome. In 90 percent. In cases, the defect develops de novo, which means that the parents are not carriers of the defective chromosome, and the child experiences a spontaneous deletion during chromosomal changes after fertilization. If one of the parents has DiGeorge syndrome, the child has a 50 percent risk of the disease.
This syndrome is a rare disease. According to estimates one in 2–4 thousand children is born with it. children, that is in Poland – nearly 200-100 per year. Nevertheless, it is still virtually unknown – also among doctors.
The 22q11.2 syndrome can present with a cleft palate, facial dysmorphism (low-set ears, wide-set, small and amygdala eyes, drooping eye wrinkle, retracted mandible), low weight gain, intellectual disability, heart, vision and hearing defects, underdevelopment thymus. This genetic defect it can cause 180 different symptoms, with different sets for each personwhich makes diagnosis even more difficult, especially for doctors who have never heard of 22q11.2 syndrome, and these are the majority.
It is the type and severity of symptoms that determine the prognosis and quality of life of patients. The only chance for an independent life in the future is appropriate therapeutic care – the more effective the earlier it is. Some adults with 22q11.2 need the help of a family or an assistant of a disabled person.
From doctor to doctor – solving the puzzle
– I have a five-year-old boy who has not been diagnosed either prenatally or postpartum because he has no heart defect. 22q11.2 deletion syndrome was diagnosed in him when he was 2,5 years old. We tried to put the pieces of this puzzle together. Feeding problems, psychomotor retardation, unbending thumbs – all kinds of things stacked up. We visited doctors of many specialties – both publicly and privately. Some said that the son is healthy, and we are looking for something that is not there. Others argued that there was clearly something wrong. As parents, we were totally confused at one point – says Elżbieta Paczesna, president of the 22q11 Polska Association in an interview with Medonet.
Also read: Stages of a child’s development
– Finally, the physiotherapist recommended us to visit a geneticist. We waited for her eight months. The diagnosis confirmed our belief that parental intuition did not disappoint. For us, the DiGeorge team was really black magic. On the one hand, we were terrified, on the other hand, we were happy that it was at least named, that we had a starting point, ‘he explains.
With time, everything started to come together. The symptoms, so far ignored by doctors, turned out to be related to the deletion syndrome.
– We already know that the first symptoms began to appear immediately after delivery. First of all, lack of appetite. The son did not want to eat at all, it was difficult for him to open his mouth because he has a very small jaw. He was unable to suck through the gothic palate and the flaccid muscles. It turned out to have submucosal cleft palatewhich basically makes it impossible to drink breast milk. The son slept a lot, more than a healthy newborn. He only cried when he tried to feed. Single feeding took up to 2,5 hours. Food poured down his nose. We poured it in a drop. This is what happens with the cleft – explains Elżbieta Paczesna.
Children with 22q11.2 deletion syndrome have problems with appetite, sometimes they have to be fed with probes or PEG. Some eat only pulp, even when they are just a few years old. This is due not only to the cleft, but also to the laxity of the larynx, muscles and tongue. Immunity disorders are also included in the deletion syndrome. Children with this defect are more likely to get sick and develop infections more severely than their peers.
At any age, some symptoms may subside, but there may also appear new ones that have not occurred before in other organs or systems.
– At the age of 10–12, mental disorders are very common, such as depression, anxiety, a tendency to schizophrenia, and social phobias. The majority of children are diagnosed by psychiatrists – says Elżbieta Paczesna.
Symptoms of schizophrenia are revealed in 30% of respondents. patients, and psychotic disorders in about 60 percent. people with this defect.
– Often children with deletion syndrome have problems with establishing contact with their peers, they do not keep up with healthy developing children. They are not aware that in order to be noticed in a group, one has to take the initiative. They find it very difficult to break down barriers. And that they are also gullible, delicate, unable to read emotions or perceive ironyin their early teens they are rejected even from the group in which they previously felt good and safe.
In addition, children with 22q11.2 deletion syndrome have problems at school, even if they are intellectually normal. Hindered abstract thinking makes them unable to cope with math, reading comprehension, and understanding commands. They suffer from impaired visual perception that affects their ability to move around corridors. Many children switch to individual education because they are not able to meet the requirements set by the school.
Invisible to the system
Difficulties arise for people with 22q11.2 deletion syndrome, while the health care system completely ignores this group of patients. Contrary to appearances, it is not about expensive drug therapies. The biggest pain is that there are no medical centers in Poland where such persons could obtain comprehensive assistance. Finding a doctor who knows how to deal with patients who have had microdeletions – both in the diagnosis and treatment phase – is almost a miracle.
– First, we fought for a life – whatever. After that, we were hospitalized many times on the occasion of various infections. But 90 percent doctors had never even heard of this syndrome, had no idea what its typical features were. In Poland, parents themselves obtain information about the 22q11 syndrome, which they share in a support group. Patients with the 22q11 defect require regular care of doctors of many specialties, there are a lot of tests that should be repeated every year – points out Marcin Kunica.
– Parents are passing the so-called diagnostic odyssey. They travel to the other end of Poland to check the child because there are no specialists in their area or the specialists do not know how to diagnose the defect. Doctors do not communicate with each other. Everyone is in a different center and everyone tests the child in terms of their field. There is no person who would have such extensive knowledge to guide a parent from start to finish, explains Elżbieta Paczesna.
The Institute of Mother and Child is preparing a project to create the q22 Coordinated Care Center, where specialists from various centers will come for consultations. Stowarzyszenie 22q11 Poland together with the institute fights primarily for the organization of care so that it does not end at the age of 18.
– Let me give you a real-life example: a high school child takes drugs for psychiatric disorders, the treatment gives good results, but at the age of 18, this is interrupted because the patient is already in the basket of adult services and has to wait two years for a psychiatrist for adults. After discontinuing medication, she does not take the final exams, locks herself in a room, is unable to cope with her fears, says the president of the association.
– We want the care to be extended, to take place all the time by trusted doctors who know and guide the child from an early age. This guarantees the continuity of therapy and observation, which is crucial for maintaining independence. Years without therapy are lost, you will not regain it – he adds.
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You haven’t been able to find the cause of your ailments for a long time? Do you want to tell us your story? Write to the address [email protected] #Together we can do more