The story of Dawn

My son was born about two week early. They at first thought he had downs. I said no he doesn’t look it. They assumed because he had the line go straight through on both hands. Which is a sign of downs. Tested and was negative. Failed every single hearing test when born. Had to see a dr for that after he was born. Just fluid. Around three months we noticed he was only turning his head one way. Took him to the dr and he was diagnosed with torticillis. Had to get a helmet and tons of therapy to untighten his neck. Well he sat up and on time. He never really crawled the normal way. He army crawled. When my brother came back from deployment even the soldiers said that he did way better than they did. When it came time to walk he wasn’t walking. So during therapy for his neck they also worked on that. He started walking closer to two. Also during that time he wasn’t talking much. We evaluated through the school and he gualified for speech services. They also tested his hearing and they told us he failed. Couldn’t hear. I flipped out. Took him to hearing dr and he just had fluid. Got tunes in and that seemed to help. At 3 was diagnosed with adhd. This is also when they started to do genetic testing. They knew something was wrong but didn’t know what. About 4-5 yrs he also started to have seizures. I knew they were simple complex. They did mris they never showed anything. Finally was sent to see a neurologist. They did an eeg. Dad of course was kicked out because of snoring. But it showed what I knew. Seizure activity. After his first seizure is when his talking went down hill. He started starting, blocks. I thought they were related to his seizures becauee his speech got better the longer he went with out one. Dr did start him on medicine. While taking affect he had about five seizures in a month. The more he had the worse he got. During this I learned to never ask him to go get sharp objects. Around 5 as well he stopped walking. Took him to the emergency room. They thought he was just constipated. But that medicine didn’t work. They sent us to ortho. He was diagnosed with perthes disease. He started walking again, but with a limp and really couldn’t run. It also limited his activities because we were worried about his hip healing up correctly so he didn’t have to have surgery. Every three yrs we did genetic testing and every three yrs. They found nothing. Going to a genetic dr we were helped out with his behavior, adhd, his schooling as much as they could. Donny never really did like school from the beginning they were teaching at a faster pace and he never caught on. His teachers were awesome. They lightened his work load. He qualified for speech and some extra services. He stayed main stream up until 7th grade. He hated EVERY second it as well. He acted out because he was frustrated and knew it would get him out of class. I finally told his behavioral teacher something had to happen. Donny was expected to do algebra and didn’t even know how to add 2 numbers together. So she pushed for him to get retested. During that time I stopped helping him do homework at home after school. It was stressing us both out. He failed his testing like I knew he would. He was placed out of main streamed into a class called acp. I class where they work at his level (2nd grade at that time) and at his speed. He has flourished in this program and I haven’t been happier. Through out Donnys life he has been short ant skinny. Which is another symptom of kbg. He is 14 now. 8 months ago he just hit 4ft. Now is about 4 1/2. Ft. Now is 75lbs. So weights around a 8-9 ur old. When ever someone ask how old he is they are surprised . Well just recently donny switched to a different neurologist. She asked many questions. More than what a neurologist would ask or even care about. She asked about a diagnosis and of course we didn’t have one yet. She told us about a clinic. Cdc I believe. Where all the dr come to our room and evaluate him. Best clinic ever. The genetics dr came in. Asked questions about him. Well she saw his teeth I believe she knew what we were looking at. She only ordered one test instead of the whole bunch she planned on doing. She didn’t tell us incase she was wrong. I went home that day and googled his symptoms. All the genetic disorders that came up. KBG was the one that fit him best. He even looked like the kids. They told us that it could take up to a couple of months to get the results. Happiest moment in my life was December of 2021. Finally after 10yrs and looking and searching Finally came to an end. Now we are lucky as some kids have it way worse than Donny. Can’t hear, can’t talk, having feeding tubes. That is our story. I wouldn’t change this kid for the world.