Rare Disease Foundation CEO cites collaboration, data sharing as keys to progress

April 10, 2017 Erin Righetti

An interview with Monica Weldon, President of Bridge the Gap – SYNGAP Education and Research Foundation

Houston-based Monica Weldon is a mother, wife, former teacher and a rare disease advocate who founded Bridge the Gap – SYNGAP Education and Research Foundation. The Foundation reflects her passion to serve, educate and raise public awareness about SYNGAP, a neurological disorder that causes intellectual disability and severe developmental delays. She has five children. Her son, Beckett, a fraternal twin, has the rare genetic disorder.

 

A defining moment

Beckett began to show symptoms at four months old, and at 14 months she thought he began having seizures. Initial tests showed no abnormality, but Weldon, a former teacher with a science background and a naturally inquisitive nature, had intuition that the reasons behind her son’s condition were genetic. The only way to determine SYNGAP1 is through genome, whole exome DNA, or any type of genetic panel test. After consulting 19 specialists, Beckett was finally diagnosed at the age of five when a genetics clinic gave them their answer. Beckett was the first patient diagnosed at Texas Children’s Genetics Clinic in 2012, and was one of only six known diagnoses in North America. At the time, Weldon could find just one published paper on the association of SYNGAP1 mutations with nonsyndromic intellectual disability (NSID).

Mutations in the SYNGAP1 gene are thought to be a relatively common cause of SYNGAP1-related nonsyndromic intellectual disability (NSID), yet patients are predominantly undiagnosed or misdiagnosed. “If parents do not continue to push for genetic testing to investigate the root cause of symptoms, we’re not going to be able to increase the diagnosis rate. It would have been so much easier if we had just started out with a genetic test,” said Weldon.

One study published in Neuron in 2014 suggests that there are tens of thousands of undocumented individuals carrying these mutations.

“I have a feeling that number is going to go up. The thing about this disorder,” said Weldon, “is that unless a child has something else paired with it, they progress at about a 50% rate.”

 

A common thread

Diagnosis is difficult with standard tests. SYNGAP1 patients have a spectrum of different type seizures, some are hard to detect and are not found on a typical 30- to 60-minute epilepsy Electroencephalograph (EEG) reading. They need a 24-hour EEG to be able to find the seizure link. As the Weldon family embarked upon the journey toward understanding their son’s diagnosis, they reached out to other patients. Patients have reached out to the Weldons from all over the world. Weldon said, “We were surprised to find two sets of twins with SYNGAP1, one in Belgium, one in The Netherlands, and one family in Australia. The Australian family, Danny and Danielle Williams, the parents of two daughters with the SYNGAP1 mutation in Australia, introduced the Weldons to Dr. Ingrid E. Scheffer AO, a Physician Scientist and Epileptologist at the Florey Institute of Neuroscience and Mental Health. Scheffer linked SYNGAP1 to the epilepsy gene in 2013. Since then, at the First International SYNGAP1 Conference, it was reported that over 94% of patients have been found to have some form of epilepsy spectrum disorder. Scheffer is doing a study on SYNGAP1 children, and is looking at more specific aspects of the way seizures present in SYNGAP1 patients.

“If you don’t have a proactive doctor on board with finding the root cause, it can be very difficult to get an accurate diagnosis,” said Weldon.

Children with SYNGAP1 have delayed speech or are nonverbal, as speech is also a spectrum disorder. Patients also present global developmental delay, hypotonia or low muscle tone, coordination and balance problems, sensory perception issues, and OCD type tendencies, and an unknown number have been diagnosed with autism.  

Scheffer is doing a study on SYNGAP1 children, and is looking at the more specific aspect of how seizures present in SYNGAP1 patients. An informal survey done by the SYNGAP1 patient group found that “over 80% of our initial survey group had a diagnosis of autism. This is an autism gene, and is one of the top genes studied in the world that have been linked to autism,” said Weldon. “The word is getting out.”

 

Becoming an advocate

Weldon was part of the RARE Meet Up Team for Global Genes and has been part of their Patient Advocacy Summit. Her involvement with Global Genes, a leading rare disease advocacy organization, ultimately led to the creation of Bridge the Gap – SYNGAP Education and Research Foundation.

“Without Global Genes I wouldn’t be here,” said Weldon. “Theirs was the first rare disease conference I ever attended, and it helped me to understand the process of getting to where we are now, and it put me in contact with the right people, giving me critical toolkits and education I needed to be involved with patient advocacy. We all overlap in some way. It became important to put the puzzle pieces together with other disease groups. I saw the benefit of those groups and what it meant to the families. These groups also enabled industry and doctors to interact at a more personal level. From that perspective, it changes the dynamic when the patient is involved; caregivers and researchers become team players,” said Weldon.

“I believe patient advocacy is the road to get to treatments faster,” she said. “Global Genes has provided an avenue to allow small foundations like mine to learn from each other, to share lessons learned, and implement new ideas and network. I truly believe in what they’re doing. Without them I would not have understood how important it is for a disease to have an advocacy organization and the need to give rare diseases a platform to be successful. I remember leaving the hospital with the diagnosis and ‘Googling’ it and finding nothing, and feeling helpless. I never want another parent to experience that. The most important moment was knowing the unknown. I felt like I could make a difference for these families so they don’t feel alone.”

Weldon began speaking about her Foundation to help others be successful. “I have been super blessed with my board and my advisory board, as well as with the collaboration of our scientists. They work nights!” said Weldon.

The SYNGAP1 (MRD5) International Patient Registry is one of the programs they are working on. This registry would benefit not only patients but researchers and drug developers. Backed by a grant in partnership with NORD and the FDA Natural History Study, the project aims to gain a picture of the progression of the disorder at onset through a patient’s lifetime. “We anticipate getting more information from the study to get better data points for clinical trials, and to target or repurpose existing medications for best treatment options.”

In addition to the registry, Weldon’s five-year plan for the Foundation includes increasing fundraising to expand the project to several regional centers of excellence in the US and Europe. Current collaborators are the Kennedy Krieger Institute at Johns Hopkins University and Texas Children’s Hospital. “We’re so rare, we can’t get everyone to Texas Children’s so it’s better to have these remote sites to enable collaboration and data collection in sync with each other,” said Weldon.

 

Collaboration is critical

As part of that plan, Weldon sees collaboration with academia and biopharma to be an important step. “We’re not academia or pharma, we’re an organization that has a charter committee to oversee how SYNGAP1 data will be used, and to give us a say in how that data is shared with pharma companies and academia. It gives power to the patient and incentivizes pharma to work with us. Progress thrives on patient engagement,” said Weldon.

“We don’t have anything in the pipeline so we aren’t partnering directly with pharma yet. The first step is gaining the interest of pharma to want to research our disorder. I think one potential roadblock with pharma companies is data exclusivity. Right now as a foundation we’re trying to come up with different data sharing agreements to make the data available to everyone. The Foundation is currently working with Ambry Genetics and Fulgent Genetics to help increase diagnoses and data sharing. 

"It is incredibly important to partner with pharma and academia and to have an open relationship, to help each other, and to get them interested in the research for drug development. There needs to be more of these types of partnerships.” 

“I will be attending Cell & Gene Exchange in Washington, DC, this May with the goal of making connections with industry, and to learn about gene therapy and the possibilities, and to educate myself on every avenue of treatment,” said Weldon.

“I was told once ‘don’t put all your eggs in one basket;’ you want as many people as possible to be researching your disease. It’s important to make connections, to pique interest in people who want to research this disease. I believe our children are the cornerstone to seeing how this disease works and to helping others,” said Weldon.

The Foundation also acts to promote research by signing letters of support for grants researchers want to pursue. They hope to raise enough money for a predoctoral scholarship to seed new researchers to study SYNGAP1. “I believe in partnering with academia. You have to supply them with the information they need to help them to get grants. It’s important to be part of rare disease advocacy in general, through partnerships with NORD, Global Genes, EveryLife Foundation, RARE Disease Report, Alliance for a Stronger FDA, Rare Epilepsy Network (REN), and with any type of rare disease studies, said Weldon. “We try to push outside research and get our families involved. If those partnerships aren’t made, you are doing yourself an injustice. They promote you and you promote them to get word out,” said Weldon.

“We are planning our first family meet up in Baltimore,” said Weldon. “We’re hoping to foster relationships between doctors and families and educate them on the best way to treat their children. We also want to develop a treatment protocol for doctors so there is an established standard of care to reduce misdiagnosis, and promote correct diagnosis with a 24-hour EEG stat.”

Changing the dynamic

“When I taught school I found that to be able to change the dynamic of the classroom, it takes relationships, it means taking time out to see where someone is coming from. The same is true for pharma, doctors, researchers, academia, and legislators, to educate people on a personal relationship level. I’m talking about building relationships. Not necessarily personal, but you need that personal touch, and to be open to listening to each other and what the other person wants, and what they’re trying to tell you,” said Weldon.

“You listen to one another. That, I believe, is going to be the avenue to making progress. My doctors listen to us. I know people at several corporations that are willing to listen to ideas, to put their pedigree away for a second and be a person. To respect each other. And to take action. If you sit on something and sit on something, it isn’t going to get done,” said Weldon.

“The only way for people to move mountains is to have passion; you must have a calling,” said Weldon.

“The scariest moment of my life was to push that resign button after 23 years of teaching,” said Weldon. “Going into a world of ‘adults’ scared me, and I was initially intimidated by the highly respected PhDs and MAs. But what I had was enough to understand what they are talking about. I had a lot of support from the right people, such as NORD, Global Genes, the Genetic Alliance, and from the rare disease community in general. It’s like a family.”

 


Meet Weldon and leaders from other patient advocacy groups, industry, academia and government to network, exchange ideas and explore partnership opportunities at Cell & Gene Exchange, May 22–23, 2017 in Washington, DC.

About the Author

Erin Righetti

Editor-in-Chief, Insight

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