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Syngap Families Welcome Packet Welcome Syngap Families Welcome Packet Welcome We would like to extend you a warm welcome to the Syngap community. Getting a diagnosis is a big step! You finally have answers to the questions you have been asking. It could be that your child is young and you were not expecting the diagnosis… or you could have an older child and are just now finding answers after all these years. Feeling confused or overwhelmed is normal and expected. Please know that things are going to get better and we are here for you. So where do you go from here? Below are several steps we encourage you to take to learn more about Syngap. Given that Syngap is a rare neurological condition there is a great probability that your team of doctors have little or no knowledge about Syngap and how to treat it. You will soon become the Syngap specialist on your loved one’s care team and we are here to give you all the tools you need to be the best advocate. Where to start? Step 1: Basic understanding of Syngap and how it affects your loved one 1. Basic Introduction Syngap1 Syndrome is a rare genetic disorder caused by a mutation on the SYNGAP1 gene. It leads to several neurological issues in Syngap patients. Syngap1 was first diagnosed in 2009 by Dr Michaud at St Justine Hospital in Montreal. 2. Basic Genetics Syngap1 Syndrome is caused by a mutation on the SYNGAP1 gene (6p.21.32).The human body is made of trillions of cells. Each cell contains 23 pairs of chromosomes (46 total). Each chromosome contains thousands of genes. Most genes also come in pairs and we get one copy from each parent.The role of genes is to produce proteins. Proteins are used to regulate the body’s tissues and organs.A gene can stop working or no longer work properly when a mutation occurs. A mutation is a mistake that happens, similar to a typo, when the DNA is copied from cell to cell or due to environmental factors. A de novo mutation means the mutation is not inherited and happened very early in the process and non related to environmental factors. We could also call it “Bad luck” mutation. Most Syngap patients have denovo mutations.The main types of mutations found are Nonsense, Missense, Frameshift, Duplication and Deletion. For more information on these you can visit: https://ghr.nlm.nih.gov/primer/mutationsanddisorders/possiblemutations 3. Syngap1 Protein The SYNGAP1 gene is located on Chromosome 6 and is responsible for creating the Syngap1 protein. This protein acts as a regulator in the synapses - where neurons communicate with each other. A mutation of the SYNGAP1 gene leads to the gene not producing or producing less Syngap1 protein. Without the right amount of Syngap1 protein we see an increase in excitability in the synapses making it difficult for neurons to communicate effectively. This leads to many neurological issues seen in Syngap patients. 4. Symptoms Syngap1 is considered a spectrum disorder since all patients are not affected exactly the same way or with the same severity. It is not known what impacts the symptoms or their severity. The list below is a combination of most seen symptoms. Syngap patients do not always present all of these symptoms. Intellectual Disability (mild to severe) Hypotonia (low muscle tone) Global Development Delays Epilepsy (subtle eyelid flutters, brief jerks, staring seizures and drop seizures) Sensory Processing Disorder Gross and Fine motor skill delays Dyspraxia (coordination disorder) Speech delay/Apraxia (mild to severe) Autism Spectrum Disorder Sleep and Behavior disorder Visual Abnormalities 5. The Rarity of Syngap SYNGAP1 mutations are surprisingly common, with the incidence reported as 1-4/10,000 individuals, or approximately 1-2% of all Intellectual Disability (ID) cases, making it one of the most common genetic causes of ID, similar to more well known syndromes like Fragile X, Angelman and Rett Syndrome.We currently are aware of over 400 diagnosed Syngap patients in the world but we know there are thousands more undiagnosed patients out there. So little people are yet to be diagnosed for a few reasons:Families receive a diagnosis like autism, intellectual disability, or epilepsy and stop their diagnostic search thinking they have reached the conclusion Cost and access to genetic testing can be a barrier to getting a genetic explanation to all symptoms Syngap1 disorder was only discovered in 2009 so all genetic testing completed before 2009 would not have shown Syngap 1 6. Treatments and Cure There is currently no cure or specific treatment for Syngap1. However intense therapy can help Syngap patients improve their skills and reach milestones. The most common therapies available are Physical Therapy, Occupational Therapy, Speech Therapy, Developmental Therapy and Applied Behavioral Analysis (ABA) Therapy.Syngap patients respond well to alternative therapies, including hippotherapy, aqua therapy, music therapy, PROMPT Therapy, etc. Don’t worry if your child is taking longer than others. Syngap patients will continue to make progress and reach key milestones at their own pace. 7. Current and Ongoing Syngap Research Syngap research is happening around the world with labs located in the United States, Canada, Australia, India and Europe. If you have research specific questions, please reach out to us and we will be happy to give you an overview. 8. Super Syngapians As difficult as Syngap can be, Syngap patients (referred to as Syngapians by family members) all have their own joyful abilities. They are happy, loving and full of life with a contagious laughter. Most syngapians love water, music, animals and have their own super powers such as increased night vision, great sense of direction, a strong will, high pain tolerance and affectionate smiles. Step 2: Watch out for seizures Over 90% of people affected by Syngap develop seizures.If your Syngapian has not been diagnosed with seizures by a neurologist, here are a few examples of what to look for. https://www.youtube.com/watch?v=qxG0Rxo3Qvk Seizures can be hard to detect since some can be very short, lasting only a split second. Most Syngap seizures are atypical absence (eye rolling, staring spell) or atonic (drop to the ground, or head drop). Some syngapians have developed a more severe form of epilepsy called Lennox Gastaut Syndrome. We recommend that you make an appointment with a neurologist and schedule an EEG. Also have them refer to this important article on Syngap seizures: bit.ly/SRF_4PbyP_NeuroPaper Trying to get seizures under control should be the priority but there is not a ‘one size fits all’ when it comes to epilepsy treatment in our community. Some patients only need one medication, while some need a combination of medicines and/or may have to go on a special diet for better results (Keto or Modified Atkins). Please work closely with your neurologist to ensure the best results are achieved for your Syngapian’s seizure control. Step 3: Join our community and meet your new support system Our private Global Facebook community is the perfect place to get support from other families who understand what your day-to-day life is like. You can ask questions with no judgement and cheer for each other as progress is made. Participate as often or as little as you would like. This page is for families only. www.facebook.com/groups/SyngapGlobalFamilySupport If you live in the US please join our US family Facebook page. This group is for US Syngap1 families and caregivers who would like to exchange tips and resources on how to best care for their loved one in the US. We will discuss access to services by state, education tips, medication, therapies, treatments, support systems, family meetups, Syngap Research Fund's updates, and more. US Support group:https://www.facebook.com/groups/SyngapResearchFund/ If you would like to talk to another family, one on one, to share experiences and ask all of your questions in a more personal way, please contact us by emailing Virginie our Patient Engagement Coordinator at [email protected]. Step 4: Look for additional resources Individual State Resources/Services Each state offers different programs to support people with special needs and their families. If you need help finding resources in your state, we recommend that you contact your local chapter of Family Voices. They are dedicated to helping special needs families navigate the healthcare system to gain access to the best services. http://familyvoices.org/ Additional helpful resources Epilepsy Management: Epilepsy Foundation: https://www.epilepsy.com/ Danny Did Foundation: https://www.dannydid.org/about-us/ Child Neurology Foundation: https://www.childneurologyfoundation.org/ Autism Autism Speaks: https://www.autismspeaks.org Autism Society: https://www.autism-society.org/ Sensory Processing Disorder: Star Institute:https://www.spdstar.org/basic/understanding-sensory-processing-disorder Apraxia Apraxia Kids: https://www.apraxia-kids.org/ Rare Diseases: Global Genes: https://globalgenes.org/ NORD: https://rarediseases.org Step 4. Stay up to date on key Syngap news Visit our websites and social media pages to stay current on Syngap news. Updates are made often to ensure everyone is aware of progress through Medium articles, research information and other scientific findings, etc. Syngap Research Fund - US Based Organization Facebook: www.facebook.com/SyngapResearchFund Medium - Articles by parents for parents: https://medium.com/@syngapfund Website: https://syngapresearchfund.com Instagram www.instagram.com/syngapfund Twitter twitter.com/SyngapRF Syngap Global Network - Global collaboration between Syngap organizations and advocate groups around the world. Website: https://www.syngapglobal.net/ Facebook: www.facebook.com/SyngapGlobalNetwork Help Advance Research The best way for families to help advance research is by sharing information with scientists. Simons VIP Connect is the best place to share this precious data.
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