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  • Care4ASH1L

Our unconditional love to our son – from Germany

Hello we are from Germany. Our son was born in 2014.

Diagnosis of autism: He is our first child and was very demanding from the start. As a baby he only screamed and would not allow body contact. He is often easily prone to irritation. He struggles to handle deviations from routines He manifested feeding difficulties, over-stretched and constantly fluttered his arms and legs. I went to a Scream Therapist with him regularly. The differences & challenges improved as he got older, but he always stood out among his peers. When he was crawling, he was extremely jumpy and punched, scratched and, due to overstimulation, also bit. At the time, we did not know that there was a diagnosis that deals with the behavioral problems. Only after our place in the daycare/kindergarten was terminated due to his behavioral issues, a development test was made by the pediatrician and over time the first abnormal EEG was written. Initially, a developmental delay was diagnosed. We then started behavior therapy and systemic parenting counseling there. The therapist suspected autism for the first time. When I dealt with the topic in more detail, it was clear to me that everything fits our son and I made an appointment with a doctor for diagnostics. In November 2018, he was diagnosed with Autism Spectrum Disorder and ADHD. From then on, he was prescribed occupational therapy. Autism therapy started in June 2019. Discovery of ASH1L: Partial epilepsy was diagnosed when the conspicuous EEGs were joined by nocturnal seizures with paralysis on one side. And the pediatrician drew our attention to the possibility of a human genetic examination due to the frequent diagnoses. During the investigation in December 2019, the gene mutation in the ASH1L gene came out. Strengths and weaknesses: Our son loves to move around and an expert with the mountain bike. He loves nature and spends a lot of time in the fresh air. His dexterity at craftsmanship is unrivaled and possesses a penchant for agriculture. His cognition levels are age-appropriate and on par with his peers. His main weakness is social-emotional behavior. He has a low tolerance for change & gets easily frustrated and cannot regulate his behavior. He cannot withstand stimuli such as noise, light, sensory stimuli and crowds. He often reacts with screams, snorting and profanity.

We love our son more than anything and will support him on his way.


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