{"id":5,"date":"2019-02-20T21:54:08","date_gmt":"2019-02-20T20:54:08","guid":{"rendered":"http:\/\/mcpacl.com\/?p=5"},"modified":"2021-01-18T22:10:41","modified_gmt":"2021-01-18T21:10:41","slug":"was-ist-syngap","status":"publish","type":"post","link":"https:\/\/mcpacl.com\/en\/2019\/02\/20\/was-ist-syngap\/","title":{"rendered":"What is SYNGAP?"},"content":{"rendered":"\n

Here you can find information about the SYNGAP Syndrome and what we experience about it. (Mutation: c.490C> T;p.Arg164*heterozygot) In the SYNGAP1 gen (de novo) \u2013 de novo means a new unknown Mutation. In the whole world, it exists more peoples with Mutation the SYNGAP1 gene. (Look the links at the bottom)<\/p>\n\n\n\n

We have a son that has a Mutation in the SYNGAP1 gene.<\/p>\n\n\n\n

Two peoples with genes without Mutations or other problems can become kids with a Mutation.<\/p>\n\n\n\n

My wife has a Mutation in the MED12 gene, which can be inherited. You can read more about this in the MED12 article on this blog.<\/p>\n\n\n\n

Our son, who has a Mutation in the SYNGAP1 gene has that not inherited from the mother or the father. They have told us (Doctors etc.) that in this situation it has not with inheritance to do. But it is coded in his gene, so he was like this from the beginning.<\/p>\n\n\n\n

Our son has many extra challenges because of his Mutation. At the age of four, he has no speech-language with spoken words. He hears, make some sounds, and communicates with body language. He does some words with Sign language, and we try to communicate with hands. We learn this together with the kindergarten and therapists.<\/p>\n\n\n\n

If he experiences many new things, maybe he gets not tired the next day, but the following week we can see the signs of tiredness and that he is more aggressive than usual. We think he needs relative much time for his self to process new impressions. One week after new big things happened comes the reaction often after a week or two. Then he gets tired and then more aggressive and impatient. Then he needs to be guided to a quiet place where he can recover. He uses aggression to communicate that nobody understands me. An adult should lead him to a quiet place where he can play without disruptions. He loves to paint, watch movies, play tablet or just playing. He loves to play with an adult when he is not too tired.<\/p>\n\n\n\n

When he is aggressive, he can hit or scratch other kids (weaker or stronger), or bite. Then he is often not being understood. He also gets hits and scratches back from the other kids. And it can be a challenge if nobody always watches him. Some days it can be better, but there is another reason why he ever must be observed.<\/p>\n\n\n\n

He has epilepsy, and for that reason, he always needs a babysitter. It dangerous for him to be in water alone or being alone without an adult.<\/p>\n\n\n\n

He also has a lousy balance and needs protection in his knees. We have some soft material in his pants, so he does not get too much hurtled. He can walk and run, but not jump; he has weaker muscles than usual; he can handle a run bike. Luckily, he sleeps very well during the night.<\/p>\n\n\n\n

Most of the time he is a glad, funny and kind boy. And very charming. We love our boy that is a gift from God.<\/p>\n\n\n\n

\"\"
Our son with Syngap<\/figcaption><\/figure>\n\n\n\n

More information:<\/p>\n\n\n\n

https:\/\/www.syngapglobal.net<\/a>
http:\/\/www.syngap.de<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"

Here you can find information about the SYNGAP Syndrome and what we experience about it. (Mutation: c.490C> T;p.Arg164*heterozygot) In the SYNGAP1 gen (de novo) \u2013 de novo means a new unknown Mutation. In the whole world, it exists more peoples with Mutation the SYNGAP1 gene. (Look the links at the bottom) We have a son that has a Mutation in the SYNGAP1 gene. Two peoples with genes without Mutations or other problems can become kids with a Mutation. My wife…<\/p>\n

Read More Read More<\/span><\/a><\/p>\n

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