Jo Ashline, MS is a passionate advocate for children and adults with disabilities, as well as their parents, caregivers, and siblings. She is an award-winning writer living in California. SheJo received her B.S. in Child and Adolescent Development from and her M.S. in Child Development.
There is a saying that it takes a village to raise a child, and no parent on earth would dispute that sentiment. However, this saying is doubly resonant for a parent whose child has a rare disease. Villagers of the rare disease community are comprised of parents themselves, moms and dads in search of answers, support, and the holy grail: a cure for the disease affecting their children.
We’d like to introduce you to some amazing villagers from our SynGAP community, all of whom are parents whose lives were turned upside down when they received this life-altering diagnosis. Rather than succumbing to despair and accepting a bleak future for their sons and daughters, these moms and dads took matters into their own hands and ignited a global movement to unite the SynGAP community, raise awareness, improve access to support and resources, and fund and propel research. Our village is stronger thanks to each and every one of these individuals, and we are grateful for their continued commitment to our kids and dedicated collaboration with one another.
These are not all of the global #SyngapLeaders — there are more in Europe, Asia and Latin America that we will profile in an upcoming article — but this is the core team that collaborates night and day on Slack and other platforms to help Syngapians everywhere.
Solenne and her husband, who are French, moved to Canada in 2006 with their two daughters, ages five and two. In 2008, their son Come was born, and at the age of 3, he was diagnosed with SynGAP by Dr. Michaud of St. Justine Hospital in Montreal. He was the second SynGAP patient Dr. Michaud diagnosed.
In 2016, Solenne, along with her husband, sister Domitille Marchal Lemoine, and several family members and friends founded the Overcome SynGap1 Foundation, whose mission includes supporting families in Canada and France affected by this genetic variant, as well as raising funds for research. To date, Overcome SynGap1 has raised more than €70,000, which has funded a full-time SynGAP researcher at the Hospital Ste Justine since January 2017.
Solenne’s message to SynGAP families is centered on envisioning a brighter future. “Always keep hope and see the good side of life. With all the research happening right now and the momentum we’re building with all the families and the ones joining us every day, I am confident things will be moving even faster in the coming months and years to come. There is already so much more hope for a cure than when we started in 2016!”
As a military family stationed in North Carolina, Aaron and Monica Harding’s daily routine included taking their two girls to their after-school activities, doing homework, and sitting down for family meals. Aaron worked as a clinical laboratory scientist at the military hospital while Monica was a stay-at-home mom after the birth of their son Jaxon. At first, she enjoyed walks in the neighborhood and time with other families while caring for her youngest child. It wasn’t until Jaxon’s nine-month well-baby check that life took a radical turn for the Harding family.
Aaron recalls that in 2007 Jaxon’s developmental pediatrician wrote that one of the possible causes for his challenges could be genetic. Because they were seeking ABA services for their son’s autism diagnosis, Aaron and Monica were worried that further testing results could disqualify them for services and decided not to pursue further testing in 2008.
Though his symptoms appeared at a young age it wasn’t until December 2014, when Jaxon was eleven years old, that he would be diagnosed with SynGAP. Plenty of routine testing for Fragile X, mitochondrial disorder, etc. had been performed, but it was only Whole Exome Sequencing (WES) became available that the SynGAP mutation was found.
Currently, Aaron is the Deputy Managing Director for SynGAP Research Fund (SRF), advising on all things SynGAP and focusing on developing collaborating relationships with other patient groups (e.g., LGS and Dravet), autism and epilepsy organizations, as well as biotechnology companies. All of these relationships directly benefit the SynGAP patient community. Previously, he served in several leadership roles with another US foundation for over three years, including as Co-PI of the NORD/FDA data registry before resigning in August 2018.
Aaron knows what needs to be done to move toward a cure for patients with this rare disease. “There needs to be an urgency to fund research & fill the gaps that federal grants won’t. What is necessary, is to make SynGAP attractive in a competitive rare disease biotech market. Because the co-founders of SRF, Ashley and Mike , have personally invested into a cure, you can be assured that all fundraising goes directly to research — guaranteed! We must form a unified global community — SynGAP ONE!”
Before their daughters were born, Danielle was running marathons and her husband Danny was lecturing all over Europe as an osteopath, working in an obstetric hospital and in clinic. They were living in London at the time, but moved to Melbourne, Australia when Jaeli, their eldest, was one. Danielle had also worked in the disease prevention industry for over 20 years, focused on motivating populations to change their behavior around modifiable risk factors like physical inactivity.
After five years of searching for the ‘why,’ Jaeli (9) and Dali (7) were diagnosed with SynGAP in February 2016. Since receiving the diagnosis, Danielle and Danny have advocated for whole genome sequencing in Australia, contributed to published SynGAP research (co-authoring the Neurology paper on the largest SynGAP cohort), partnered with The Epilepsy Foundation to create SynGAP Research Australia, launched the #secret4syngap fundraising campaign raising SynGAP awareness through media coverage, lobbied the Australian government for funding, and funded a dedicated SynGAP researcher for two years.
In February 2018, the Australian government announced AUD$2 million of funding for genetic epilepsy. The first funded project was for SynGAP research, of which $500k was awarded to the Florey Institute, who commenced work in November 2018. Syngap Research in Australia has consistently grown from the generosity of its community and Danielle and Danny look forward to committing these funds to continuing the Syngap research effort beyond 2020. They are dedicated to enabling researchers to crack the SynGAP code.
Even though rare disease can be isolating, Danielle and her husband are grateful to have found the opportunity to connect with their community, both local and global. They are most proud of co-founding Syngap Global Network and locally the Genetic Epilepsy Team Australia (GETA) with a mission to help world-leading researchers cure Genetic Epilepsy.
Danielle wants families to know we are the closest we’ve ever been to finding a cure for repairing the SynGAP dysfunction responsible for the challenges we see in our children. “It’s especially comforting when you consider the advances in medical research over the last decade: Ten years ago only 5% of epilepsies had a known genetic explanation; now there are over 80 (more than 50%) due to the introduction of chromosomal microarray and next generation sequencing. Diagnosis is not the only research area benefitting from advances in technology. We are at the dawn of precision medicine. I do believe precision medicine will find a way to repair the production of SynGAP for our loved ones. Gene therapy has already provided viable therapeutic options for other conditions.”
She also encourages parents to be prepared. “We need to be ready to fast track those breakthroughs, so they convert into viable treatments for our kids as soon as possible. Researchers and biotechnology companies have advised us what we can do to fast track successful therapeutic approaches. We need to be investing our energy into participating in data registries like Simon’s Searchlight as well as Natural History Studies which will fast track the regulatory approval of treatments when they arise.”
Before her son Ty was born, Virginie was working full time as a product director for a software company. Her daughter was five years old, her son had just turned four, and the family had just moved back to the US after spending four years in the Netherlands. Life was relatively easy and it was time to add a little more chaos.
On November 30th, 2016, Ty was diagnosed with SynGAP at sixteen months old. Virginie will never forget that day. Soon after, she got involved with a US foundation, organized a Zumba-thon to raise money for research, attended conferences and connected with scientists and the incredible SynGAP community. In spring 2018 she left the foundation and co-founded the Syngap Global Network (SGN) in order to facilitate collaboration between the different SynGAP organizations and advocates around the world. The organization provides easy to understand content for the community, established Syngap Awareness Day on June 21 along with a Splash4Syngap campaign, but most importantly, they collaborate on a daily basis on awareness, support and research. In late 2018, when the SynGAP Research Fund (SRF) was launched Virginie became the Patient Engagement Leader. In this role she is building a team of SynGAP ambassadors (SynGAP parents) to provide support for families, giving them the tools they need to feel empowered in their SynGAP journey, as well as to connect them with scientists and raise awareness. She is also developing partnerships with other rare disease groups and firmly believes in collaboration and team effort, as we can all learn from each other.
Virginie wants other parents to know she gets it. “SynGAP sucks. What it does to our kids’ brains and lives is heartbreaking. Scientists are working hard every day to understand SynGAP better and find treatments. Many dedicated organization leaders and advocates are out there trying to speed things up and connect the dots. The best part besides our wonderful SynGAP warriors? The community! We will listen, support, cheer, cry, scream and help every step of the way. You are not alone!”
Verena Schmeder’s first introduction to rare disease and special needs parenting occurred well before SynGAP entered her life. She herself suffers from a rare disease called erythopoetic protoporphyria (EPP), and her oldest child was diagnosed with Asperger’s Syndrome and a high IQ ten years ago.
In 2004, she co-founded a patient support group for EPP. For more than 10 years she was the Vice President of the German EPP Association and used her experiences in marketing and public relations to increase awareness for the disease and to foster patient relations.
In 2013, her second son Jamie was born. Now six, he was two and a half years old when he was diagnosed with SynGAP. Verena decided to advocate for rare disease and use her skills to work for the global SynGAP community. From the moment she was told about this genetic disorder, it was clear her mission was to find other affected families, learn as much as she could about the diagnosis and help improve the lives of the global SynGAP family.
In 2016 Verena and her family founded the German SynGAP Family Support Group, called “SYNGAP Elternhilfe.” Currently there are 34 patients in Germany, which makes the country the fourth biggest SynGAP population in the world.
Verena and her family are involved in numerous groups within the special needs community, including developmental delay and epilepsy, in order to form a network of parents watching out for potential and diagnosed SynGAP patients. Observing a significant lack of information about SynGAP within the special needs community, Verena set out to help families with kids affected by developmental delay — the first symptom shown by SynGAP patients — to take steps toward a diagnosis, starting a social media group to offer a platform for discussion. This strategy helped to set many potential SynGAP patients on the right track to genetic testing.
In 2017 Verena and her son motivated a group of German clinicians from Schön Klinik in Vogtareuth/Germany (one of the best epilepsy centers) to write about a unique symptom seen in many SynGAP patients: seizures triggered by eating. In 2019 the scientific paper about SynGAP-related eating epilepsy was published, and included data from Jamie and seven other patients from the global SynGAP family.
To further educate the public about SynGAP and to give insight into life with a child with disabilities, Verena writes a Facebook blog, called “Minimann’s Leben mit Syngap Syndrom,” with over 2000 followers. There she gives a voice to her non-verbal son and tells the world about his adventures from his perspective.
Verena wants SynGAP families to know they aren’t alone. “If you want to learn from other families about this rare disease and connect with others in your area and globally, join our “SYNGAP global family support” group. If you want to advocate for SynGAP in your country, reach out to us — the Syngap Global Network — and join a fantastic group of international collaboration. You can learn from experienced, skilled and dedicated parents how to actively improve the lives of SynGAP patients by increasing awareness, setting up an association, and connecting to professionals as geneticists, clinicians and researchers.”
For Sébastien and his wife, the SynGAP diagnosis came nearly nine years after they had registered their daughter Rachel in several research campaigns. Rachel, who was ten at the time of diagnosis and who is now thirteen, was one of seventeen participants in a European-wide study several years earlier on intellectual disability and epilepsy. The study ultimately led to a published research paper by Dr. Mignot and a confirmed SynGAP diagnosis for Rachel. This came as a surprise to the Laverrieres, as the blood sample used in the study had been drawn a few years prior in Lyon, France and they assumed that sample would not be used again.
To manage Rachel’s care, which includes a full schedule of medical appointments, Sébastien’s wife quit her job and became the primary caregiver. Sébastien credits her with being instrumental in keeping their family life stable and providing their children with the best childhood possible. The family moved from France to Switzerland eight years ago to ensure Rachel receives the best possible care, and Sébastien works full time in cybersecurity as a data protection specialist.
Sébastien has been part of the SynGap Global Network since its inception and is active in creating and overseeing SGN social medial content, including helpful infographics and videos. He’s also collaborated with four other Swiss families to create the new Swiss Association.
Sebastian wants SynGap families to know it’s important to focus on the present. “Try as much as possible to forget the past, do not give the future too much importance, and focus on today. Today is what matters, what can you and your family do to have the best life possible and then, try to accept the challenge. The future will hopefully be bright and maybe in five, ten, twenty years, medical solutions will exist to help our kids, but don’t wait for it to live the best life possible. Do it right now by enjoying every moment and every small victory.”
Gonzalo Bermejo’s daughter Carlota, who is thirteen, was diagnosed with SynGAP two years ago at the age of eleven. As a Process Manager in the IT Department for a large international distribution company, Gonzalo is grateful for his flexible schedule, which allows him to care for his daughter.
Along with three other SynGAP families, Gonzalo is finishing the necessary paperwork to establish the Spanish SynGAP organisation: Syngap1 España. Gonzalo is also dedicated to bringing SynGAP families in Spain together, and has already organized two meetings, one in Madrid and the other in Seville.
As a certified Coach and passionate blogger on his website, Gonzalo helps families with special needs and shares his experiences. He is working on a book.
His message to other families: “It’s a difficult journey the one we have to make, but we are not alone. There is an incredible support and family group, take your time to accept the situation, there is no need to hurry up, this is a long-distance journey.”
Robert Punt is the father of a large family. Robert and his wife are proud to have 5 sons to raise. His 13 year old sons is diagnosed with autism. Also he has not one, but two children with Syngap, identical twin four-year-old boys named Nick and Lars. He and his wife call them the SynGAP twins.
The boys were diagnosed at one and a half year old and from that moment the family became busy getting the right help and resources for them. Luckily Robert works for a local government as a geo-specialist/data-analyst. This gives him the flexibility to help his wife with appointments for the twins.
In the search for the best help end resources Robert and his wife have to fight for each resource. Just because SynGAP isn’t well known. Every time they have to explain what the symptoms are and explain why they need the resources. This is why Robert wants to bring more awareness to families and the doctors. He hopes SynGAP will be well-known as Down Syndrome.
Robert is working on bringing about more awareness regarding SynGAP and to help with research efforts. Syngap1 Nederland is not yet formalized, but he is determined make it so.
His message to families is simple yet important: “Keep the courage. The roads you walk on are long, but you will get there.”
Hans is an infectious diseases physician who emphasizes outpatient care of patients with HIV as well as inpatient care of patients with all sorts of infections. He’s had an interest in translational research since his fellowship training in infectious diseases. His son Erich was born in 2015 while he was working at Drexel University College of Medicine and Hahnemann University Hospital.
His one-year check-up was a little late, and by that time Erich’s pediatrician could tell something was wrong. Soon they were being referred to developmental pediatrics, neurology, and genetics. Then it was metabolomics and neurogenetics. It took 10 months from that screening to the whole exome sequencing results, with the SynGAP diagnosis, to come back in the first week of March 2017.
Erich is now four years old and his older sister Anneka is seven.
Dr. Schlecht’s first efforts in SynGAP were for his son. He did a deep dive into his variant and reached out to others for help. The most immediate thing he could do to help him was find a nonsense read-through agent, so he reached out to PTC Therapeutics, the maker of ataluren, which is read-through agent that has some data in cystic fibrosis and Duchenne’s muscular dystrophy. Hans nagged the company for an IND to treat Erich, it was approved in November 2017 and Erich started the treatment in March of 2018 a few days after his third birthday.
While the family waited for ataluren approval, he broached the subject of trying azithromycin (the medication in a Z-pak) since there was some data of it promoting read-through. He felt these meds were safe and they were glad as parents to have the chance to try them. Unfortunately, it didn’t seem that medication either helped Erich, probably because his nonsense containing transcripts are getting chewed up by a process called nonsense-mediated decay (NMD). Hans reached out to a scientist on how to block NMD in a SYNGAP-gene specific way but it does not suit Erich’s variant.
Dr. Schlecht continues to read Science and Nature trying to keep up with the latest progress in gene therapy and regularly shares articles of interest with others in the SRF. To be ready for gene therapy, he thinks it’s key to have a biomarker(s) that can promptly look at the levels of SYNGAP expression. Since too much SynGAP is toxic, the FDA will be wary to allow gene therapy without some monitoring of SynGAP. He would love to have a blood test for SynGAP but even though we aren’t there yet, he believes we will be.
Dr. Schlecht has also spoken at two Global Genes conferences on his efforts for Erich so people who aren’t doctors with backgrounds in research can hopefully see a path or technique that may work for them. Because of the talks he’s heard at these conferences, he’s come up with an idea to use the HUGO Gene Nomenclature Committee number in ICD-10 and ICD-11 so that any pathogenic gene variant could be a part of the medical record as an ICD diagnosis. He spearheaded the submission by a group of 12 rare disease organizations to the CDC for ICD-10 codes and proposed the idea in the WHO’s ICD-11 Maintenance platform.
Lastly, he signed Erich up to be an NIH brain donor so science can learn whatever it can from him after his passing. It’s difficult to do this for your own child, but the power of autopsy studies can’t be underestimated.
Dr. Schlecht’s message to families is to focus on action. “Do what you can. For me it’s being a Science pest. Maybe you can fundraise for SRF. Build a website. Form a SYNGAP group. Keep a blog with tips for new parents. Listen to other folks asking for help and step up in the way you can.”
Amit Mandora and his wife were both working before their son Vivaan was born. In January of 2018, a little after turning two, he was diagnosed with SynGAP. There was no access to support groups or resources for SynGAP families in India. It is Amit’s belief his son may be the only registered SynGAP case in India.
Amit felt inspired him to create an online support group on Facebook called Syngap1 India. Though he hopes no one else in India has to bear the difficulty of knowing their child has this rare disease, Amit is committed to helping them in any way he can. He and his wife shared that they love their son more every single day and look for ways to ensure he gets better. Though managing his symptoms and therapies all while continuing to hold down their jobs keeps them occupied, not a minute goes by when they are home that they don’t want to plant a million kisses on Vivaan’s cheeks.
Amit wants parents to focus on loving their children while they wait for answers. “We know there is no cure yet. Don’t lose hope. Don’t lose patience. Be loving and caring to your kids; it will help them develop better until something concrete comes out. I am sure that we will have something to work with soon, to help our kids. The researchers are working on it: it’s just a matter of time.”
Mike & Ashley met in 2011 in Washington, DC, were married in 2012, and became parents to their first son Tony in 2014. The family moved to California in 2015; in early 2018, after many rounds of testing and much uncertainty, Tony was diagnosed with SynGAP by Stanford Neurology.
In 2018, shortly after Tony’s diagnosis (and the birth of his little, typically developing brother John), Mike and Ashley created the SynGAP Research Fund whose mission is to “improve the quality of life of SynGAP1 patients through the research and development of treatments, therapies, and support systems. In late 2018, SRF committed $800k to three institutions to fund multi-year research grants. SRF is supporting a precision medicine conference that is bringing ~140 epilepsy researchers together, with the aim of engaging more of these researchers in work on SynGAP, and is also hosting a roundtable at the American Epilepsy Society to raise awareness with neuroscientists. The foundation plans to launch a next round of grants next year.
Mike and Ashley are dedicated to connecting with SynGAP families globally and providing access to research, resources, and community. They launched the For Parents, by Parents here on Medium, which covers topics ranging from the newest advances in scientific research to personal SynGAP stories from parents to a current global count of the worldwide diagnosed population.
Ashley encourages families to embrace their expertise and share it with their medical providers. “While it is an odd feeling explaining a rare disease to an MD or a PhD, you need to get used to it. Go in with the latest paper and tell them they need to read up if they will have the privilege of caring for your rare child. You have spent many thousands more hours with your child than any clinician. You understand this disease with more detail and nuance than any of them ever will. So, share insights and data with them, and every other researcher. Please participate in the Simons Searchlight registry so that we can build a natural history study, which will benefit research, and help drive towards a cure.”
Mike knows science is changing fast. “It’s hard to predict what will happen but we there will be many more patients diagnosed in the coming years. We have to do all we can to make sure that our patient population is ‘shovel-ready’ for science to help them. That is what SRF is working on non-stop.”
Ashley & Mike introducing the Syngap Research Fund, 501(c)(3)