Rare Leader: Allaina Wellman, President, 17q12 Foundation

The Basics
Name: Allaina Wellman

Title: President

Organization: 17q12 Foundation

Social Media Links:

Disease focus: 17q12 deletion syndrome is caused by a missing piece of chromosome 17 (microdeletion) that is present from the moment the child is conceived. There are many different microdeletions that can occur on chromosome 17, but 17q12 deletion syndrome is caused by a deletion of a specific ~1.4Mb region on the long arm (“q arm”) of chromosome 17 at position 12 (one-two). The most common test used to identify the deletion is called a chromosomal microarray (CMA). The deletion is too small to be detected with a karyotype. Based on current research, about 1 in 14,500 people in the general population have the deletion syndrome. It is more common in populations with developmental disorders (developmental delay, autism, intellectual disability) and schizophrenia. It is most common in individuals with kidney/urinary tract abnormalities. It is important to remember that no two people with the deletion will have the same combination and/or severity of symptoms, even people within the same family.

Headquarters: Virtual

How did you become involved in rare disease: My son Liam was diagnosed when he was about two-and-a-half with this genetic condition. He’s my second child and I noticed pretty early on that he was not meeting his milestones the way that he should have been. My husband is in the army and he was deployed at the time. The doctors assumed that I was in there because I needed attention. It took a while, but once he saw a neurologist, the neurologist performed some of the more standard tests and an MRI. As a last resort, the neurologist decided to do a genetic test. While we were waiting for the results—it must have taken six or eight months to get them back—we’d already moved to another duty station. When they told us, I said, “Okay, what is that?” And they said, “We don’t know.” At that point, Geisinger was running what they called family meetings. There was one about four months after Liam was diagnosed. And that was also the meeting when Geisinger decided they weren’t going to continue being the hub for the research and information. They were going to hand it over to the families. Sherie Scott, Mark Dempsey, and Liz Fourie were all at that meeting and we decided that we would see if we could make a go at it and get it off the ground.

Previous career: Worked as an administrative assistant for an engineering firm and as a preschool teacher

Education: Associate of arts in education/teaching of individuals in early childhood special education programs, Fayetteville Technical Community College

The Organization
Organization’s mission: Our mission is to have research done for families and educate our families on what they can expect with the duplication or the deletion. It’s scary not knowing. Sometimes the answer is scary, but at least you know what you’re looking at. It was scary for us when Liam was diagnosed and we didn’t have an answer. We didn’t know what to expect, or if it was going to impact him, how it would impact him as an adult. As a group, we want to be able to provide data and a community for families.

Organization’s strategy: Our strategy is to join families together and give them accurate information. The first thing you do when your child is diagnosed with something is to Google it. Our strategy is to make ourselves findable so families can find their community. And if nothing else, they have a community where they can talk to each other while we wait for the research because the anecdotes of “Oh, my child is doing such and such” is comforting and enlightening to other parents.

Funding strategy: We do a lot of fundraisers. We do fundraisers with Bonfire, they even custom design shirts for us every year for our awareness day, which is July 12. We also encourage our families to fundraise with local business or even through Facebook. We also apply for grants. We were recently nominated for Global Gene’s Champion of Hope award and awarded a grant through the Chan Zuckerberg initiative. The grant is with the Silicon Valley Community Foundation, which will allow us to get our registry off the ground a lot sooner. Right now, we are in the contractual phase of that.

What’s changing at your organization in the next year: The registry has always been a funding issue. We are getting the registry off the ground with that grant that we were awarded. We can follow through with the registry and institute the policies to keep that information safe. It’s important for us that our families own their data. As my son would tell you, Spiderman says that ‘with great power comes great responsibility.’ With that ownership it’s a burden to have to care for data in a cyberworld.

Management Style
Management philosophy: My grandmother told me ages ago to treat everyone with kindness and leave everyone with their dignity. Even if you have a disagreement, or you don’t see eye-to-eye, it doesn’t have to be a negative. I like having people around that have other ideas. I like when other people have thoughts to bring to the table, because I’m certainly not smartest person in the room. I like to be able to organize all of the smart people.

Guiding principles for running an effective organization: My guiding principles are to put our family units first. If you have a strong and secure family at home, you’re more able to be present at your position, and you’re stronger and can accomplish more if you’re not worried and thinking about issues or concerns with your family.

Best way to keep your organization relevant: I believe the best way to keep our foundation relevant is to gather as much high-quality data as possible to better understand the impacts the syndromes have and to provide a good foundation for researchers to build upon. I want to utilize this research and data to better educate providers and families about these syndromes and help work towards treatments that improve the quality of life. And the trickle-down effect of having that information, starting with doctors and therapists, and then teachers and therapists that work in schools, because most often when our children are in school or at therapy, even their therapists that work with them may not understand or have any idea about this condition.

Why people like working with you: I hope people like working with me because I work hard and I set goals for us to achieve that are attainable.

Mentor: My grandmother is my mentor. She helped raise me. She always pressed forward to learn and grow with grace and compassion. She has never allowed anything to keep her down or discourage her from success. She worked on Capitol Hill for years. She was a single mom way back in the day when that was not a normal thing. She never quits. She would do anything for her kids and her grandkids. That’s how I look at it with my kids. I would do anything, even things that are outside my wheelhouse, I will learn how to do them so they can get done.

On the Job
What inspires you: I’m inspired by all of the kids our foundation represents. They work so hard to overcome the things that affect them with their disorder. It’s amazing to see how many accomplishments these kids have. Not to brag, but my son actually won first place at the Special Olympics in our parish here in Louisiana for the 100-meter dash. I have never been so proud. To see a kid who walked late and had so much physical therapy to be able to run his own race. Knowing that these kids work so much harder than their peers, watching them be able to succeed or come up with a way to do it on their own and maybe an unconventional way, is just inspiring and makes me want to work hard.

What makes you hopeful: My son makes me hopeful. He’s always growing, learning, and overcoming, no matter how much harder he has to work. He is always there with a smile and a hug and the world is just a fascinating, beautiful place to him. I love seeing the world the way he does.

Best organization decision: Reigning ourselves in and not rushing to the finish line. It’s hard to be patient but making sure that every step of the way that we’re checking and that we’re rechecking and making sure that we’re doing things in with a long-term view. We’re here for the long race, not the short one. We want to make sure that this is something that has staying power. I would say being patient is probably the best decision we’ve made.

Hardest lesson learned: Even though what we’re doing is for the good of so many people, not everyone will be happy for you or agree with your choices. We’ve had some pushback on some decision we’ve made and it’s been hard for some of us on the board. We want the best for everybody. We take it personally when someone thinks that we’re not succeeding for them. That’s hard because you want everyone to see your vision the way you see it in the long-term. You want everybody’s kid to be able to benefit. It was hard to have individuals who were not always supportive.

Toughest organization decision: The hardest thing we’ve had to do was be strict with our support group. We have a private support group page. There are a lot of pages out there that are public or they allow membership into that support group without verifying the disease. We were seeing a lot of people who were in certain support groups that weren’t affected by that disease, which can skew the information. When we created our support group, we had a very strict policy of confirming whether or not they had the correct duplication or deletion. Telling people that they had found the wrong group was excruciating. It was so difficult. We always work hard to try and help them find where they belong—the group they’re actually looking for. With years of looking at genetic reports, we’ve managed to figure out what we’re looking at. But it’s still hard when families come to us and we have to tell them that we’re not what they were looking for. It’s always heartbreaking.

Biggest missed opportunity: With COVID, we didn’t get to do the family meetings and conference. Everybody was isolated. We’ve worked hard to find solutions outside of that without being able to do conferences where families could come together, their kids could play together, and we could have speakers. We do Zoom meetings where myself and the other board members break up into groups and we have families who come into the Zoom meeting and we can talk about what’s going on with the foundation, or what’s going on with their kids, if they have questions, or if they want to compare notes, or my kid is doing this I just want to know if anybody else’s kid is doing that. We’ve had a lot of positive feedback. We’ve come up with some interesting workarounds. It’s sad that we have missed out on those conferences, but I like the option that we went with.

Like best about the job: I love meeting all the people and I love seeing how our kids are similar or dissimilar. I just think it’s interesting that you can have two kids from completely different backgrounds in two different states, two different family structures, and they’re both doing the same quirky behavior. It makes my heart feel better to know that your kid’s not alone.

Like least about the job: It’s got to be when families find us when they don’t have the condition. I usually am the one that has to talk to them. It’s the burden of being the boss. I hesitate to say that, but usually when something hard has to go down, I’m the one that does it. Talking to them, comforting them, and explaining to them that when they thought they found the answer and it wasn’t right, is hard.

Pet peeve: I’m a pretty patient person. I don’t have any work-related pet peeves, but I do hate when people leave water running in the sink.

First choice for a new career: If I were to start all over, I’d probably be in genetics. I’ve discovered a fascination with going through this process. It’s just extremely interesting to me. Talking to families and explaining the minuteness of it is extremely interesting to me.

Personal Taste
Most influential book: The most influential books and helpful books were definitely my textbooks from my early childhood education. I used them so much with my first child who’s neurotypical. And then again, so much with my second. There’s a lot of information about special needs. And when I started noticing he was missing milestones, it gave me access to information that I don’t know that most parents have access to right off, and it helped a lot.

Favorite movie: Oh, 100 percent it is Jurassic Park. My son and I love dinosaurs. We’re obsessed with dinosaurs. We will probably watch Jurassic Park three times a week.

Favorite music: ‘90s alternative rock

Favorite food: I’m a southern girl – brisket

Guilty pleasure: I love to read. I have so many books. We just moved into our forever house and I think we had probably 20 book boxes and my husband said, “I think you might need to cut down.” I said, “How do I pick?”

Favorite way to spend free time: I take in foster dogs on behalf of an animal rescue. We get them all fixed up for adoption. I currently have three of my personal dogs and I have three foster dogs. My daughter would probably pipe in at this point to tell you we also have 10 chickens. I love giving these dogs a safe place. Dogs are amazing. My son is obsessed with them. It’s such a unique thing for an animal that has been in a bad situation, or not well taken care of, and they’re still loving and they’re still forgiving and they’re willing to try in a new home and not carry that experience with them. We’ve had probably a dozen to 15 foster dogs in the last two years and we love having them.