Maddox was born April of 2017. He was a healthy, red headed, almost 9 pound baby boy. At my 20 week anatomy scan we discovered Maddox had bilateral clubfeet, but aside from that he was perfectly healthy. At 2 weeks old he started treatment to correct his clubfeet and at 2.5 years old now, you would never know. His orthopedic surgeon has told us he was low muscle tone so he tends to drool a lot and needs supportive braces in his shoes, but he doesn’t let it slow him down!
I started noticing delays with Maddox around 8 months old. He was behind in many milestones so after some conversations with his pediatrician he started PT. Shortly after his first birthday he was still fairly behind in milestones (didn’t walk until 21 months) so he was referred to genetics and neurology. The genetic doctor suggested genome sequencing which resulted in finding out his KCNB1 diagnosis in April of 2019 and MTHFR mutation. He does struggle with some digestive issues and an allergy to wheat, but he has a great appetite.
As of now we haven’t seen any signs of seizures. He’s had numerous appointments with his neurologist and she sees no reason for further testing unless something significant changes.
While Maddox is now 2.5 and non verbal (but vocal), he’s progressing in all other areas of development tremendously. He uses a handful of signs to communicate and continues to try to form words. He’s running, feeding himself, climbing, understanding simple directions and attending a private preschool which he loves. He has a smile that lights up a room and such a big heart. He’s INCREDIBLY active and you’d usually find him standing on the kitchen table trying to grab the chandler. Music is one of his favorite things along with playing outside, following his big sister around, loving on our dog and playing with cars. He continues to surprise every day with his progress.
I started noticing delays with Maddox around 8 months old. He was behind in many milestones so after some conversations with his pediatrician he started PT. Shortly after his first birthday he was still fairly behind in milestones (didn’t walk until 21 months) so he was referred to genetics and neurology. The genetic doctor suggested genome sequencing which resulted in finding out his KCNB1 diagnosis in April of 2019 and MTHFR mutation. He does struggle with some digestive issues and an allergy to wheat, but he has a great appetite.
As of now we haven’t seen any signs of seizures. He’s had numerous appointments with his neurologist and she sees no reason for further testing unless something significant changes.
While Maddox is now 2.5 and non verbal (but vocal), he’s progressing in all other areas of development tremendously. He uses a handful of signs to communicate and continues to try to form words. He’s running, feeding himself, climbing, understanding simple directions and attending a private preschool which he loves. He has a smile that lights up a room and such a big heart. He’s INCREDIBLY active and you’d usually find him standing on the kitchen table trying to grab the chandler. Music is one of his favorite things along with playing outside, following his big sister around, loving on our dog and playing with cars. He continues to surprise every day with his progress.
