The Basics
Name: Jennifer Martin

Title: President

Organization:  Helping Hands for GAND

Social Media Links:


Disease focus: GAND stands for GATAD2B-associated neurodevelopmental disorder. The GATAD2B gene is located on chromosome 1 (at 1q21.3) and is an important gene for normal cognitive development.  Most patients so far identified have had intellectual disability, low muscle tone, apraxia of speech, strabismus, macrocephaly, and distinct physical characteristics, including a high wide forehead with frontal bossing, prominent supraorbital rides, and posteriorly angulated ears. Many of these individuals have experienced feeding difficulties, particularly in infancy. Nearly 1 in 4 have epilepsy, and about 8 percent were born with aortic valve defects.

Headquarters: Huntsville, Alabama

How did you become involved in rare disease: When my fourth child struggled to hit his developmental milestones in infancy, we began a diagnostic odyssey to seek out the underlying cause. Four-and-a-half years, numerous tests, and another affected child later, we finally received a diagnosis of GAND. Actually, at the time, it wasn’t even called GAND, but mental retardation, autosomal dominant 18. Even the gene name, GATAD2B, didn’t exactly roll off the tongue, so coming up with a better name was an early priority. But first we had to make connections. The day we received the diagnosis, our geneticist told us there were 2 other people diagnosed in Europe and no way to contact them. This was a huge blow after years of searching for a community. I had long hoped that a diagnosis would lead not only to finding our tribe, but also to an organization that would be hosting conferences, investing in research, and sharing news and resources. I had not previously envisioned leading such a thing myself, but once we had a diagnosis, I just had to do something with it. With a fire lit under me, I started a Facebook group and launched a website. Within a few weeks, we had a small online community representing 13 known cases. That last case was a patient of a pediatric neurologist in California who was interested in making this disorder a focus of his research. In one of my first conversations with him, I asked for his help in crafting a better name for the disorder and his solidarity in using it consistently. Thus, the acronym GAND was born.

Previous career: Classical educator

 

Education: Majored in Vocal Performance at Middle Tennessee State University

The Organization
Organization’s mandate: The mission of Helping Hands for GAND is to support individuals and families affected by GATAD2B-associated neurodevelopmental disorder (GAND), to increase awareness, and to work toward research and treatment opportunities to enrich the lives of those with this rare genetic condition.

Organization’s strategy: We seek to engage our community in adopting our mission. After all, everything we do is with them in mind. We can better support GAND families when GAND families participate in our events and online groups and are able and willing to support one another. We can better raise awareness when GAND families get involved in awareness campaigns. We can better pursue research opportunities when GAND families are able to connect with researchers and eager to help us fundraise for new grants.

Funding strategy: Our amazing community enabled us to award our first research grants in 2019 for a total of $60,000. We are in the process of renewing our support for this collaborative project between two institutions studying human cellular and animal models of GAND. In both cases, we have insisted on receiving regular reports and funding no overhead costs. While our grants have covered only a portion of the project’s total expenses, our funds represent a significant sacrifice on the part of our small, rare community and their networks. While the bulk of our current funds are used to support the model studies, our organization is also developing a natural history study. We are hopeful that this patient registry will lead to an improved understanding of GAND, as well as new research opportunities.

What’s changing at your organization in the next year: We recently streamlined the way we gather information from new families, offering them a way to more easily share their preferences for connecting with newly diagnosed families in their area. This will significantly improve our ability to connect families quickly.

The launch of the GAND Patient Registry will be big news for our community! Helping Hands for GAND will be working to spread the word and educate families on the purpose of the registry and how they can participate in providing the scientific community with a more accurate picture of GAND.

We’re also gearing up for our largest in-person GAND Gathering & Scientific Conference ever in July 2022. After COVID-19 postponed our plans twice, our community is eager to come together to learn from researchers, support professionals, and one another.

Management Style
Management philosophy: Our board is entirely comprised of parent volunteers. We come from a variety of backgrounds, and each brings something unique to our organization. I strive to provide a clear vision and strong direction for Helping Hands for GAND, and my fellow directors are instrumental in helping me to carry it out. Because we are all parents of children with special needs juggling other personal and professional obligations, I find that we have different margins in different seasons. The workload is divided not just by the numbers, but by the varied strengths, skills, and availability for specific tasks or projects.

Guiding principles for running an effective organization: It’s paramount that everyone in the organization holds a firm commitment to our mission statement. Let’s face it, what we do is often tedious and thankless, and none of us are paid a dime. It’s the underlying mission that keeps us going. I have the privilege of welcoming new families into the GAND community, and every time I do, I think about what a difference it would have made to my own family if we had been connected to a community, received better information and literature, and learned of research opportunities, upcoming events, and ways to get involved from day one. Knowing that newly diagnosed families don’t have to go through what we went through is a source of great joy for me. I started Helping Hands for GAND mostly for my own children, but I’m still on the board largely for the sake of our community. They are counting on the mission of Helping Hands for GAND, and I feel a sense of responsibility in making sure that our organization stays focused on that.

Best way to keep your organization relevant: Do the next thing. Despite a long list of achievements, we can’t afford to rest on our laurels and declare our mission is accomplished. There’s always more that can be done, and when you’re talking about a rare disorder first described less than ten years ago, there are mountains upon mountains yet to climb. Our organization’s directors are parents first, so we research new endeavors and learn a lot from the broader rare disease community.

Why people like working with you: I’m a hard worker and a lifelong learner. I don’t see new challenges as obstacles, but opportunities to learn new things and develop new skills. People often ask me how I do everything I do with all that’s on my plate. I do it because it never occurred to me that I couldn’t.

Mentor: I don’t have a specific mentor, but I’m very grateful for the collective experience of the broader rare disease community leaders. When I first sought to launch a nonprofit charity for GAND, I started by looking at similar organizations in the rare disease community. I reached out to the founder of one organization who kindly talked me through her experience in starting her foundation. I’m in some online groups of nonprofit rare disease leaders who share lessons learned from their own experiences, which has been a great benefit to me.

On the Job
What inspires you: I watch my two children with GAND face tremendous obstacles every day, usually with a smile on their faces. While they sometimes need a little help with motivation, they don’t give up. They are a constant reminder of why I do what I do, and if their challenges aren’t an excuse for them to give up, then I certainly have no excuse.

What makes you hopeful: As access to testing improves, I’m hopeful that a greater number of previously undiagnosed cases will finally receive an explanation for their challenges. This will allow more families to connect with their community, gain a better understanding of their child’s condition, and participate in research. Despite all the professionals who told us early on that a diagnosis wouldn’t make a difference, a diagnosis absolutely does make a difference.

Best organization decision: Prioritizing a family gathering early on was extremely helpful in building rapport for our organization and solidifying a sense of community among GAND families. It also facilitated a better understanding of GAND for parents and a strong beginning for research since we were able to connect families with a researcher from that very first meeting.

Hardest lesson learned: Not every family in our community is going to share our vision, but that’s fairly rare. The slightly more common issue is families who approve of our programs but don’t take ownership in helping us achieve those goals. We are indeed here to serve them, but we can’t do it alone. That practical support has to come from somewhere, and we count on our rare community to help us spread the word and generate interest in our cause.

Toughest organization decision: Our board has wrestled with whether we should hire paid staff to help run our operations. I think it’s bound to happen eventually, but for now we have decided to remain 100 percent volunteer led. Both options have pros and cons, and rightly identifying when the lack of paid staff is truly holding you back is a difficult calculation to make.

Biggest missed opportunity: Having just hosted our first online conference, I wish we had offered such an event sooner. While the in-person meetings have so much to offer, the online platform enabled some families, particularly many international families, to participate in such an event for the first time.

Like best about the job: Connecting with newly diagnosed parents has always been my favorite part of the job. It is a constant reminder of why I do what I do, and I know it has an impact on parents who are often facing one of the most difficult days of their lives. Easing that burden, even just a little, is very meaningful to me.

Like least about the job: For every item I check off my to-do list, there are five new ones ready to take its place. There’s never a real sense of completion.

Pet peeve: I really don’t do this job for thanks or praise. I’m not bothered by silence from some, but those who complain with a sense of entitlement and no perspective can be rather draining. Thankfully, they are few and far between, but there’s really no excuse for that in what should be a supportive community that recognizes we are working toward a shared interest. I know we’re all dealing with some serious challenges, so I tend to think those individuals are just having a bad day. Overall, we have an outstandingly positive, encouraging community, for which I’m truly grateful.

First choice for a new career: I sincerely enjoy helping others and volunteering in my community. Whatever the future holds, I intend to continue serving wherever I can be of help.

Personal Taste
Most influential book: The Bible

Favorite movie: Inside Out

Favorite music
: The works of Ēriks Ešenvalds

Favorite food: Ice cream

Guilty pleasure: Take out

Favorite way to spend free time: Reading

 

 

 

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