ONCE UPON A GENE - EPISODE 014 - A Fellow CTNNB1 Mama
Tara Bryant is a special warrior mom who has a young son with CTNNB1 and she's sharing her heartfelt story with us. I connect with her as a mom, going through the same things with CTNNB1, we're both hair stylists and I love the real stuff she shares- stuff we're all living through and not necessarily talking about all the time.
EPISODE HIGHLIGHTS
Tell us about your son Titus.
Titus is three and a half, he is rambunctious and very driven. He has come such a long way and we're so proud of him. With CTNNB1 comes a lot of challenges, but we do our best each day to get through them and continue on.
Is Titus in developmental preschool?
We planned on starting a program two days per week for four hours, but we took him for the assessment and they weren't equipped to accommodate Titus. We knew that wasn't the right fit and that he wasn't going to get the help he really needed in that program. That's when we got the autistic diagnosis and we started the full 40 hours per week in ABA therapy. Right now he's not learning his ABC's or how to tie his shoes or count. He's learning to be verbal, to request things through signing and to pull up his own pants in preparation for potty training, so he's learning differently than other kids his age in preschool. Right now, the skills Titus is learning are more important.
Did any of the healthcare professionals that were helping you ever steer you in the direction that Titus had some developmental disabilities?
Not at all. Coming into this, I didn't know what was offered or what was available. I just went into it blind. Everyone kept saying Titus was behind, that he was so small for so long that he just needed time to catch up. Eventually, I thought enough is enough, I spoke to his physical therapist and she thought maybe he had a mild form of cerebral palsy and that we should see a neurologist. The pediatrician gave us a referral, we went through the CT scans which came back normal. They said there was no proof of cerebral palsy, but he had all the traits and they didn't diagnose him. I wasn't okay with that and we went onto another neurologist. By this time, Titus needed glasses because his eyes were crossing. We met with the other neurologist and he said he didn't think genetic tests would do any good. Thankfully, a genetic specialist who read his tests and reviewed the symptoms he was having, validated that something was wrong and felt it was important to find out sooner rather than later what it was.
You got an exome sequence test and they told you Titus has CTNNB1 Syndrome. How did you take that news?
We were chasing a diagnosis in hopes to get answers for how to help our son who was struggling in so many ways, thinking that we'd find out what it is and have answers from there. When we received the diagnosis from the specialist, we were more lost than we were before. The specialist directed us to a Facebook group of other parents with children who had CTNNB1. When I found the group, we were there when so many others were getting their diagnosis too. I hoped everyone had the answers to all the questions I had and they didn't. I realized that every parent on there knew exactly how I was feeling. My husband dealt with the diagnosis very differently. Even he didn't know or understand everything I was feeling. I have found that talking to people about how I was really truly feeling helped. I have a great clientele base who have become friends over the years and they all keep track of Titus. They are so thoughtful of my feelings, asking how I'm doing and it's easy to talk to them. I have a huge support group that I can talk to and I finally found the more I say it out loud, the easier it is. You have to first completely break down and be real and be raw before you can really start accepting the diagnosis, where your life is and where it's going.
With having an older sibling, a typically developing little girl, how have you found that it has changed her?
At home, it's a challenge because Titus has certain things that set him off. Crying is one of them. When she falls and hurts herself, I have to hurry her into her room so she doesn't cry in front of her brother and cause him to cry, bite himself and bite her. I feel guilty because I'm not able to comfort her. I have to comfort her brother, then go comfort her after I've gotten Titus into a safe, soft spot so he doesn't physically harm himself or anyone else. My daughter is ten now, so she's old enough to understand and she wears all the shirts to school and she's really knowledgeable about CTNNB1. She's happy to tell anyone what she knows and goes above and beyond to make sure they're treated equally and she's become such an advocate herself in her own way.
What is Titus doing now that he wasn't doing a year ago? How fast is he progression?
We started getting Botox about a year ago in Titus' hamstring area and calf muscles. He's a toe walker and before Botox, it was so hard to get him to walk with his heels down. He learned to fight it, but the gait was way off to where it was going to cause problems with his hips. We started the Botox and from there, he was able to stand up by himself and walk for a lot longer distance and he was able to climb on everything. It gave him a lot more movement in his knees and hips. He was walking prior, but when he fell over, he would have to crawl to somewhere to pull himself up. We were very thankful that the Botox helped in the way it did. He's also picked up a lot of sign language through speech and ABA therapy. He will say words, probably about ten, but says them infrequently. He communicates through his pecs book and we just got him fitted for his AAC device.
What are you doing for you to take care of yourself?
Just recently is when I decided that I need to start taking better care of me and not just being Titus' mom and revolving everything I do around him. Before Titus, I always trained in the gym and I recently just started doing that again. I go super early in the morning so it doesn't take any time away from my typical day. Every now and then I go to dinner with a girlfriend. I'm making a point to have mother-daughter dates with my daughter because I know she misses out on a lot that she wants to do because Titus is limited in what he can do and I'm trying to get that quality time in with her.
What do you know now that you wish you could have told Tara in the beginning of this journey?
I wish I would have fought a lot harder in the beginning when the doctors and specialists fought me on things and I just stood by and thought they knew best.
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