Spontanious mutation

Today we officially got Frejas diagnosis!

Since she is only the 15th known case in Sweden the child neurologist seemed releaved we had already seeked information on our own. We talkad about which of the symptoms Freja has especially her constopated stomace and her hand tics.

We were worried about the hereditary consequences for our big girls but neither me nor David are carriers so this is a spontanious mutation. So thats good news! However the neurologist said we should wait and see cause in 20 years that awnser might be different depending on the research done!

We got some new medicine for her tummy and he also told us that if her drewling gets worse there is help to be had! 

All in all it’s a positive thing to finally have the diagnosis! It’s positive for us personally and positive in what help we now can get. At the same time it doesn’t change anything that much - Freja is still Freja and what help she needs and will need is individual and the institution doesn’t seem to know much more then we do since there are so few known cases!


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