Author name: tbrsadm

The TBRS Community is excited to announce a call for proposals to study Tatton Brown Rahman Syndrome in a model system. We have partnered with the Rare Disease Models and Mechanisms Network (RDMM) to award $25,000 to a Canadian lab to investigate the mechanisms of TBRS or to identify potential therapeutic targets. The application deadline is February 28. Researchers can apply through the RDMM, which will select the recipient.

Each month a wonderful group of young adults and teens who are diagnosed with TBRS gather for our Social Group via Zoom. With the help of a volunteer facilitator we have a blast with activities that are usually requested by our group members. You may find us doing anything from dancing and joke telling to karaoke and rock painting. We have even had a few younger kids join us for some of these activities. The group is ever evolving and always a fun time. There is no pressure to chat if you are feeling shy, and you don’t have to participate in the activity if you would rather just talk. Zoom makes it possible to have participants from all around the globe. Please reach out to [email protected] if you are interested in joining us. If you or a loved one are diagnosed with TBRS and you haven’t joined our private Facebook Group, please do!

The TBRS Community offers a monthly Parent and Caregiver Support Group via Zoom, so families from all around the world can participate. We create a safe place to share thoughts, feelings, concerns, and emotions without judgment. The meeting seems to take a different shape every time we gather—sometimes we focus on sharing resources or experiences, but we always seek to make everyone feel comfortable and supported. Any parents or caregivers of someone diagnosed with TBRS are welcome. Please contact [email protected] if you are interested in learning more. If you or a loved one are diagnosed with TBRS and you haven’t joined our private Facebook Group, please join us!

Katherine McMahon was one of our founding board members. She devoted her life to advocacy and service on behalf of people with disabilities. She followed the stories of each person affected by TBRS like they were her own family. She cheered for our accomplishments and cried with us during difficult times. We lost Kathy to cancer in September of 2019.

The TBRS Community established The Katherine McMahon Memorial award to keep Kathy’s spirit alive. We asked for nominations from our community to honor a person who embodies Kathy’s kindness, generosity, and “can do” attitude.

Ashley Hatton was nominated for the award, and the committee unanimously voted yes! Ashley is a bright light in our community. She is an artist and shares her joy by sending her artwork with messages of encouragement to her “TBRS friends” to brighten their days. She spearheaded The TBRS Challenge—a now annual fundraiser that raised $11,500 and inspired our community to get moving toward healthier lifestyles. She posts motivational videos in our Facebook Group, is a positive presence at every TBRS Social Group, and our community wouldn’t be the same without her. Thank you for being you, Ashley. We were so honored to present you with this award. Kathy would be so pleased.

On Wednesday, January 20th, I had the pleasure of sitting down (virtually) with TBRS artist Megan and her mom Melissa to talk about her journey and the artwork she is sharing with our community. The conversation, like her artwork, was inspirational. Here are the words they had to share:

Zoe: Thank you guys so much for meeting. . . . Megan and Melissa, when did you guys learn about the TBRS diagnosis? How did you find out?

Melissa: Actually, Megan found out, we had some genetic testing done . . . but Megan was searching through the internet (and Megan correct me if I’m wrong on that) and she found something, right?

Megan: My doctor said that I had an overgrowth condition but they weren’t exactly sure which one. So, I just searched that up and I went and looked at all the different faces and I said, ‘Hey! Some of those people sort of look like me!’ That’s when we learned about it and then I was diagnosed with that.

Melissa: So we went back to the genetic testing results, and one of the gene sequences in there was flagged. And I think it’s one of the gene sequences that’s for the Tatton Brown Syndrome, so that’s how we figured it out.

Zoe: That’s awesome. Megan, way to be a self advocate, that’s really cool, that’s impressive.

Melissa: Yeah, she’s great at research.

Zoe: That’s wonderful. So then, did you do something similar to find The TBRS community?

Megan: Yes, I was . . . looking at the pictures and then I saw that . . . it said Facebook underneath of that, so I clicked on that. And that’s when found The TBRS Community and then that’s where I found all of my friends that are like me.

Zoe: And that’s the social group. So you like the social group?

Megan: Yes . . . I was one of the people that started the . . . Zoom meetings for us, the people with TBRS. I put that idea out there.

Zoe: That’s awesome. Thank you so much for doing that.

Melissa: Going around the world, right? Because you’re getting together virtually.

Zoe: Yeah. My son is three, but I know he will be very excited when he’s old enough to join the community. That’s great to have such an advocate like that. And so, do you keep in touch outside of the social groups? Or do you guys just really meet during the social Zooms?

Megan: I talk with some people sometimes.

Zoe: That’s so wonderful that you found those connections.

Megan: Yeah.

Zoe: Melissa, how have you liked becoming part of The TBRS Community?

Melissa: It’s kind of nice, actually, the idea that we’re not alone. You know? For such a long time it’s, ‘Megan’s unique. She’s really special. We can’t figure it out.’ And then everything would just stop. Nobody wanted to take the time to figure out what made Megan tick. Just that she was special and unique and, you know, so it’s nice to have a fit.

Zoe: Yeah, most definitely.

Melissa: And it does fit. Right?

Megan: When I was in school, I was always bigger than everyone else. I would go trick-or-treating and the lady said, ‘You’re too old to trick-or-treat.’ And I was 10. They thought that because I was so tall.

Zoe: That’s frustrating.

Melissa: It really is.

Zoe: Kids should be able to trick-or-treat as long as they want to.

Melissa: I figure if you’re in costume, you get candy. That’s my rule.

Zoe: Yeah. No kidding.

Megan: I’m 6’3” now. But even when I was born, I was humongous. [laughter] And I still am.

Zoe: It is an interesting challenge. That is hard to relate to if you are not in the community. So it’s great to find the community. I would love to get into your artwork. . . . Did you volunteer for the cards or were you excited when you got to put your artwork into the TBRS cards?

Megan: Yeah, that was fun. That was exciting.

Zoe: That was exciting?

Megan: Yeah. I liked doing that.

Zoe: Was it hard to pick which picture?

Megan: Not really. I have so many pictures, that any of them are fine to be used I guess.

Zoe: That’s great. So how long have you been doing art?

Melissa: Since birth.

Megan: Yeah.

Melissa: We’re a very crafty family, right, Megan?

Megan: Yeah. My siblings always did art all the time. So I grew up with art. And when I was little, sometimes I had a hard time with writing and stuff like that, so I would use my finger painting and I would paint with my hands. And—like this one [shows artwork that is hanging on wall behind her]—this is painted with my hands.

Zoe: That’s incredible, that’s really amazing.

Melissa: We did a lot. Megan could get a lot of her feelings out sometimes through her art when she couldn’t express herself. Some of the paintings were really bright and vibrant. And some of them were very dark, and spooky scary. It just depended what her mood was like, and her art showed it.

Megan: It was my first language.

Melissa: Yeah.

Zoe: That’s wonderful that you have that way to express yourself.

Megan: I didn’t talk until I was almost 5, so that was a good language for me.

Zoe: . . . So I was looking at the art you’ve posted to the Facebook group, and you use such bright colors. And are so good with the bright colors. It made me curious about what your favorite aspects of painting are.

Megan: When I paint, my favorite thing is that you can do anything you want on it. I can put as many colors and as many layers as I want to. And you can take layers off and stuff. There’s no mistakes.

Melissa: No rules, Right?

Megan: Yeah.

Melissa: No mistakes. No rules.

Zoe: Yeah.

Megan: So, that was always nice for me, because I have lots of struggles in some areas, but when it came to art you could do anything that you wanted. There’s no right or wrong for it.

Zoe: Well, I know that as community members, and other people that are involved in the community, we sure appreciate you sharing those bright colors and that expression. And bringing joy through that to the group.

Megan: I post those because sometimes people have bad days, and sometimes if you see something bright and colorful they may have a better day. Just like a smile can change someone’s day.

Melissa: That’s right.

Zoe: I would completely agree with that. I was actually having a pretty bad day prior to this conversation, so I completely feel that. . . I was wondering [what are] your highlights from the TBRS community? Some of the hard parts and the highlights that you would go over. Does that make sense? That’s not a well-worded question, so let me know if you want me to clarify that. [laughter]

Megan: Like the hard parts of TBRS?

Zoe: Yeah, what do you find are the hard parts? You talked about the being tall, and the Halloween, is there anything that stands out?

Megan: So, there’s a lot of people, they don’t always understand or know that it may take longer for me to understand. That’s sometimes a struggle with TBRS.

Zoe: That’s understandable.

Melissa: Yeah, because outwardly you’re not that different, right? So, you know, people assume that they are just a big kid, but able to be like every other kid. And that’s the hard part is we didn’t know what it was for such a long time, everyone just ruled out behavior issues are because of this, and her other issues are because of that. Nobody was looking deeper into what was really going on with Megan.

Zoe: Yeah.

Megan: They thought I was deaf.

Zoe: That’s so frustrating. I can’t imagine . . . what that would be like.

Melissa: She ended up in ministry care because I couldn’t look after her any more, the schools didn’t want her because of the aggression, so it snowballed into something it didn’t need to be if we would have had some support when she was younger.

Zoe: To echo what I’m hearing is there is a lot of just the unknown and being understood. And, like, not having that. So I imagine the diagnosis came as a big relief to be able to do that.

Melissa: Yeah, for sure.

Megan: Now I don’t feel as alone. There’s people that understand me now, and I like that.

Zoe: That makes me happy. That is wonderful to hear.

Megan: And the best part I think about having TBRS is that I can help future people with TBRS. Like help mapping it out, sort of. And so then it’s easier for people to get help with it in the future.

Melissa: So people don’t go down the same path we went down. Right, Megan?

Megan: Yeah, they can get the help that they need instead of struggling day-to-day with not knowing what will happen. And not knowing, why do I have seizures, like yesterday. And why am I so tall? Why do I have a curve in my back? All this sort of stuff. So now it’s good to know that’s why. And it can help future people too.

Zoe: That’s really wonderful to hear. I know I appreciate that on a personal level. So my son was diagnosed at two-and-a-half years of age. So we get to skip a lot of that unknown. And I am very grateful for the people that came before that allowed us to get that understanding. So, thank you for that.

Megan: I wasn’t diagnosed until I just turned 18.

Zoe: That must have been very hard. So that’s sort of the negative. What’s the biggest positive you have found either with the diagnosis or with the TBRS community? What’s the biggest highlight?

Megan: I haven’t met anybody with it, but I’ve met them through the internet. And it feels so good, it feels like a family that I don’t know—but I do know. Because we, some of us we look similar, we act similar, we talk similar, we like similar stuff. And that is great.

Melissa: I like knowing there are other people out there that are just like Megan, instead of Megan being special and different and we don’t know—we do know now.

Zoe: I look forward to the day I can meet you guys in person and the world is not quite so controlled. And I am glad for this community, so it’s wonderful to hear that.

Many thanks to Megan and her Mom, Melissa, for this interview and sharing their story. If you would like to join the Teen/Adult TBRS Social Group, please reach out to [email protected] or request to join our private Facebook Group for more details. If you would like to tell your story to the community, please email [email protected] to be added to our newsletter feature list.

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