Terrible diagnosis - Canavan disease
Brief description of the disease*
Canavan's disease, also known as Canavan's disease — van Bogert, spongy infant degeneration, spongy degeneration of the white matter of the brain, Canven-van Bogarth-Bertrand disease, degeneration of the CNS spongy, is a hereditary disease characterized by progressive lesion of nerve cells the brain. It belongs to the group of genetically determined leukodystrophies. When leukodystrophy occurs the destruction of the myelin sheath of nerve fibers.
The development of Canavan disease is caused by a defect in the ASPA gene located on the short arm of the 17th chromosome (locus 17p13.2) and responsible for the synthesis of the enzyme asparto-acylase, which ensures the degradation of toxic N-acetylaspartate. This leads to disruption of the formation of the myelin sheath of the nerve fibers of the brain.
Symptoms of Canavan disease usually appear in children aged 3 to 6 months. Symptoms include: delayed development of the child, enlarged head (macrocephaly), loss of muscle tone (hypotonia), serious problems with feeding the child, convulsions, hyperkinesia, symptoms of cranial nerve damage, adynamia.
*Based on materials from Wikipedia
The story of how Olga Shkrinda
was diagnosed - a girl with Canavan's disease
The story of Ekaterina Protasova - Olga's mother
"By the 4th month, Olga never really started to hold her head, and in general there was an impression that her development had stopped ... She eats well, grows, smiles, but doesn’t hold her head properly, doesn’t try to take the toys in her hands and seems to be watching them worse...
We ran to the neurologist in the clinic, the neurologist said that everything is fine, but recommended that we do an ultrasound of the head again. We went to the diagnostic center, where the doctor told us that there are small changes, but this is not a problem. We went to DGB them. Rauffusa, and did an ultrasound with another very experienced doctor, he looked at it for a long time and said that he suspected hereditary accumulation disease and sent us to geneticists. In the genetic center, we passed many different tests, talked with the doctor for a long time. In parallel, we went to several different neurologists, but no one could say that with our daughter.
By 5 months, I noticed that Olga's eyes twitched strangely. I sent a video to a neurologist, who we recently had at the reception, she said that it could be seizures, and we got together and went to the emergency room of Children's hospital No.1. With suspected convulsions, we were hospitalized. At the hospital, Olga did a lot of different tests, ultrasound, ECG, EEG, MRI, but did not make a diagnosis ... MRI suspected leukodystrophy and recommended DNA testing for all known genetic diseases. Such an analysis is expensive and makes it three or four months in Moscow ..
Being in the neurology department, I saw many different children and mothers. I read all the information available on the Internet on child neurology. I was shocked, I never thought it would happen. I knew that there are different genetic and congenital diseases, but I thought that they are very, very rare and only those who have any diseases in the family or some predisposing factors. For example, alcohol and smoking during pregnancy ... I never thought that rare genetic diseases are much more common simply because they are so many different, and often in the family everything is healthy, including all relatives to great-great-grandparents and great-grandmothers, and strictly observe all recommendations of the doctor leading the pregnancy. Well, because they take tests for various diseases both during pregnancy and in the maternity hospital of a baby from the heel ... I was wrong.
While Olga and I were in the hospital, the husband took the results of the analyzes from the genetic center; he was not told any diagnosis. After discharge, we went to another genetics in Turner. There, after looking at all our results and conclusions, the doctor gave us a presumptive diagnosis - Canavan's disease, and helped to pass the analysis for this diagnosis in a laboratory in St. Petersburg so that we could do it quickly. And then a month and a half later we received an answer - two mutations of the ASPA gene were found in Olga, the diagnosis was confirmed..."