Born: 2012 

Country: Poland 

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Journey to diagnosis​
 

Paweł is a joyful, passionate eleven-year-old boy.

 

He was born prematurely at 36 weeks gestation. From birth he had a slight decrease in muscle tone and was unnaturally thin. At 6 weeks of age, he underwent severe pyelonephritis, which resulted in scarring of the kidney. It turned out that he had a double pelvicalyceal system on the left side, a valve of the posterior urethra, which caused reflux of urine to the left kidney.
 

Initially, he developed properly, he reached milestones on time, although at its lower limit. The only thing that bothered us at the time was the lack of speech.

 

We performed neurological diagnostics on him; it turned out that he had a very abnormal EEG record in his sleep, to the point that we were even threatened with the risk of status epilepticus. We did the resonance twice - each time it was correct, it had only widened Virchow-Robin spaces. We consulted many doctors, gave him different medications, he was on the Atkins diet for over a year, but the record only slightly improved, and there were other side effects (irritability, aggression, attention deficit disorder), so together with the doctors we decided to stop taking the drugs.

 

In the meantime, we performed a genetic test - microarrays, but the result was correct. He is under the care of a nephrologist and an endocrinologist all the time, because he is growing very poorly and is underweight (all the time he was not in the centile chart), despite his enormous appetite.

 

We are particularly concerned about his short stature. We ruled out celiac disease, parasites, we tested the growth hormone - its discharge was found to be normal.

 

We did the trio's WES study a year ago and it showed a change in the CUL3 gene, which we believe explains the poor weight gain and short stature.

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Current challenges

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We're still trying to stabilize the EEG. We are very concerned about our son's short stature. In the near future, we plan to expand endocrinological diagnostics.​

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Reflections & hopes for the future

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Paweł has some reduced cognitive functions. Psychological tests show that the result of his intelligence is within the norm, but at the lower end of it. In addition, our son has reduced concentration and poor working memory. Despite this, he manages to study. He is in the fourth grade of primary school. We believe that if we can find the cause of the abnormal EEG recording, we will solve the problems with concentration.

(Last updated: In 2023; age 11)