Q: Why can’t he walk? Why is he in a wheelchair? Will he ever walk?
A: Nothing is wrong with Braxton’s legs. In fact he loves to kick them when he lays on his back or to swim in water. But the parts of his brain that helps Braxton to coordinate his motor movements did not form properly. He also has been on medications that slow his brain down. These have been used to prevent seizures, but it has made learning hard. Now Braxton is on less medications and his brain is making new connections, but his body is so much bigger than a babies when a baby first learns to stand and walk. We use special equipment to help him build muscles and lately Braxton has been wanting to walk with our help, so we hope one day he will be more mobile, but for now he uses his wheelchair.
Q: What does he have?
A: This question usually is a stumbling block for me. Braxton doesn’t have an easy to say disease or disorder. He has a whole collection of abnormalities in his brain. The quick answer is he has cerebral palsy. The longer answer is he has dandy walker malformation, agenesis of corpus collosum, microcephaly, polymicrogyra, and cortical visual impairment. He has these abnormalities because he has a super duper rare gene mutation on his TUBa1a gene. There isn’t a lot known about this gene, but we do know its job is to make the brain become its different parts early on in pregnancy. Braxton’s specific mutation of this gene hasn’t been seen before, and until a couple months ago he was the only kid in Canada with any mutation of the TUBa1a gene! But more and more kids are getting tested for this mutation now and I have been connecting to more families with kids who have this genetic mutation. Neither Brock nor I have this gene mutation, so it’s very unlikely any other kids we have will be affected. Braxton’s brain won’t get worse, but it won’t become normal either. He isn’t contagious, but we do have to be careful that he doesn’t get sick because sometimes he’s on medications that suppress his immune system, and even on his best day he has a much harder time fighting off bugs than other kids.
Q: What is that on his stomach? Why is there a tube hanging out of his shirt? Does he eat?
A: Braxton is fed though a G-tube (gastrostomy tube). When he was about 8 months old he lost his ability to swallow his milk without aspirating. So he has a surgery that put a tube right into his stomach that we feed him through. Braxton has a special ketogenic diet to control his seizures. I blend up meats, fruits, vegetable, and oils, and a pump slowly pushes his blends into his stomach. He eats 4 times a day, it takes 2 hours to complete a meal. Braxton can eat while he sleeps or while we are our and about, but he has to stay pretty still while he eats, since he throws up really easily. He also gets all of his mediations and water through his g-tube. He might be able to eat with his mouth again one day. Right now he can get tastes, but he is pretty scared to eat with his mouth because he has choked so many times.
Q: Can he see? Can he hear? Is he awake?
Braxton has a hard time seeing. He only opens his eyes half way and can only see things clearly if they are really close. When Braxton was born he had cataracts and had to get the lenses cut out of both eyes. So he didn’t use his eyes when he was a baby before he had the surgery and therefore learned to use his hearing instead of his vision to understand the world. He needs glasses or contacts to see well since he doesn’t have lenses in his eyes. Braxton can see lights and colours and enjoys watching tv, but he probably won’t look at your face. Because he doesn’t look at you and often closes his eyes when he is listening, he often looks like he is asleep. Most of the time he isn’t asleep. He’s almost 4 and so he now rarely naps during the day, most of the time when we are out and about he is awake. When Braxton was a baby it used to really annoy me when people couldn’t tell if he was awake or asleep, but know I understand it’s hard for people to tell if my floppy closed eye boy is cuddling and listening or sneaking in a nap at church, and I no longer get offended. As for his hearing, oh he can hear amazing, probably better than you and me. He recognizes voices and sounds in the house, like the garage door opening means dada is home. So go ahead and talk to him like a 4 year old, his understanding of language is really great!