The story about Sergei

Written by schestakova1985, published 24 days ago.

The story about Sergei

Here is our medical history. My son Sergei was born on 20.10.2011 with a weight of 1960 and a height of 48 at 34 weeks by caesarean section because of poor indications of placental blood flow. During the ultrasound a stop in development at week 28 was diagnosed. He was born with hypotrophy of the 2nd level, hypoxia of the nervous system. Two weeks later we had intestinal enterocolitis, antibiotic treatment.
Sergei had developmental delay and expressed muscle hypotension, frequent posseting, constipations and rejection of maternal milk due to lactase deficiency.
At the age of 6 months there was an episode with blue fingernails and a nasolabial triangle, hospitalized in a hospital. Sergei had vomiting and diarrhea only two times in life up to 3 years, the doctors considered the virus.
At the age of two years, a blood test showed an increase of Alat eightfold increase of ASAT, there was no therapy. The kidneys are enlarged, there are small cysts, a protein in the urine. Magnetic resonance tomography revealed the anomaly of Dandy Walker, signs of cerebellar atrophy. Severe arrhythmia of the heart.
Against the background of fever, eyelid myoclonias appeared. After recovery all is normalized. EEG is normal.
At the age of 3 years he was examined in the laboratory of hereditary metabolic diseases by the method of direct automatic sequencing, a complete analysis of the PMM2 gene (glycosylation disorders of type 1a) was carried out. Exons 1-8 of the gene were studied. In exon 5, a single nucleotide substitution was observed with 422G> A (p.Arg141His) in the heterozygous state. This change is described in the international database on human mutations as pathogenic (CM971228). In exon 7, a single nucleotide substitution was observed with 548T> C (p. Phe183Ser) in the heterozygous state. This change is described in the international database on human mutations as pathogenic (CM000826).
Diagnosis glycosylation disorders Type 1a is highly confirmed with PMM2. Growth and weight stopped, then endocrine disorders were also found. Sergei has poor appetite. Now he is 5.5 years old, his height is 98cm and weight of 13kg. At the moment Sergei is able to crawl, to sit uncertainly, to stand at the buttress, to walk holding hands. He has no balance and coordination, is staggering and falling all the time. Strabismus, astigmatism. There are compulsive movements of the hands when rejoicing. He says mom, dad, ball, dog, cat (in Russian). He communicates with gestures, which he made up himself, he copies the actions of other people, characters in cartoons. He does not eat by himself, only with the help of grown-up, drinks from a bottle.
I'm very concerned about the question of feeding of Sergei, treating of endocrinology and treating the liver, support of cardiovascular system. Unfortunately, there is no cdg community in Russia. I dream to wake up one day and find out that there is a medicine that will save my child forever.

Written by schestakova1985, published 24 days ago.

One comment for «The story about Sergei»

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  • SandraRC | published 23 days ago | Originally written in Russian

    Привет shestakova1985,

    Только быстрая личная нота, чтобы сказала вам привет и добро пожаловала вас в сообществе ВНГ. Спасибо что поделились своей историей здесь. Меня зовут Сандра и я работаю в качестве менеджера сообществах.

    В разделе сообщества Встретитесь вы можете общатся с другими, поделиться своими дилеммами, задавать вопросы другим участникам сообщества... Также, посетите и другие разделы чтобы прочитали истории о жизни с ВНГ и другие интересные и полезные информации о ВНГ. Можно посмотреть локации других на карте а также и означить себя в разделе Участники.

    Вы уже связались с обществом редких заболевания в России? Если нет, в дополнении использовании RareConnect платформы, я рекомендую Вам тоже вступить в контакте с ними:
    http://www.rare-diseases.ru/

    Надеюсь, что вы здесь найдете ответы для некоторых из ваших вопросов.

    Хорошего дня

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