( I'm going to start with a disclaimer). This is my personal experiences as a mother and caregiver to someone diagnosed with ADCY5. Everyones experience is unique. I am not a doctor. I can not give any professional nor medical advice.
When first meeting Violet you may not notice her movements right away. You may not see her with a walker, wheelchair, or even AFO's. Other times you may see the movements right away. You might see her and she may appear tired or even sleepy, and she's in her wheelchair. When she has her walker she has a great sense of independence, and you may see her flying by.
Violet absolutely has a condition, but see does not let that slow her down. I didn't think i noticed any particular movements or muscle weakness until about six months, but I remember holding her for the first time something in the way see opened her eyes. Starting from day one she nursed very well, she hit all her milestones, There was no real cause for concern. When she started setting up on her own there where certain jerks or spastic type movements, they would be so fast you'd have to truly watch her closely to catch it. We told our doctor at the time and he jumped on it right away with early intervention, he also wanted to rule out possible sizers. which she was cleared of any type of sizer activity. The early intervention was a little more tricky because the movement were so subtle at this point that it was truly hard to tell. About six months go by we are still trying to figure out the movements, what is the root of it all. We do another screening for early intervention and i say lets be on the safe side and get her in something to of set whatever maybe going on here. We get into therapy, speech, and occupational therapy. At this time therapy was truly life, and by that I mean this was a very foundation for our family I don't know where we'd be today with out that base. They really pushed and encourage me and Violet to see a way through in the beginning. We went to so many doctors visits but just could not figure things out and finally one of our wonderful therapist mentions genetic testing. We did a partial genetic test it came back clear, nothing was found. We actually moved to Alabama and started setting Violet up for therapy, docters, and specialist. We went through Violets history but they said that they'd run a full genetics test. With that test that when we found that the ADCY5 gene was broken. That gene was the gene that caused her symptoms. We finally had a diagnosis. There's no cure, she will always need therapy to help her with balancing, muscle memory, and speech. But I'm greatful that we caught it early. ADCY5 is usual found in ages 2-11 years old. I can see why it was very subtle in the beginning and when the child is continuing to progress its very hard to classify.
ADCY5 with Violet is a balance. She so independent but yet needs help. I've learned to finally except her condition. It not easy realizing that your child is different