Welcome Pack for New SynGAP Families

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. Introduction

Syngap1 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 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.

  1. Intellectual Disability (mild to severe)
  2. Hypotonia (low muscle tone)
  3. Global Development Delays
  4. Epilepsy (subtle eyelid flutters, brief jerks, staring seizures and drop seizures)
  5. Sensory Processing Disorder
  6. Gross and Fine motor skill delays
  7. Dyspraxia (coordination disorder)
  8. Speech delay/Apraxia (mild to severe)
  9. Autism Spectrum Disorder
  10. Sleep and Behavior disorder
  11. 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, Angelmans and Rett Syndrome.

We currently are aware of over 1,238 diagnosed Syngap patients in the world but we know there are thousands more undiagnosed patients out there. So few people are yet to be diagnosed for a few reasons:

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.
To learn more about Syngap researchers and their work, we recommend that you watch our SRF research webinars series. If you have questions regarding the topics discussed please let us know.

8. Super Syngapians

“Syngapian” is often used by family members and the greater SYNGAP1 community as a term of affection for those affected by this disease. Some other communities use similar terms (Epilepsy/Epileptics), but we understand that it is up to individual parents/patients to call someone with SYNGAP1 whatever they deem appropriate.

SYNGAP1 impacts each patient’s life, but they are so much more than that, each with their own playful and joyful personalities. They are happy, loving and full of life with a contagious laugh. 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.

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.

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

Please join SRF's family Facebook group. This group is for 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.  

Our private Global Facebook community is another 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.

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 Corey Baysden, o family support corey@cureSYNGAP1.org and she will be in touch.

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. Familyvoices.org

Not all states offer the same level of support. It is important to understand how your state compares. Where you raise your child and the support systems you build around them really matters. Here is NORD's ranking of US states by level of support: Rarediseases.org/nord-state-report-card

Additional helpful resources

Epilepsy Management
Epilepsy Foundation: www.epilepsy.com
Danny Did Foundation: www.dannydid.org/about-us
Child Neurology Foundation: www.childneurologyfoundation.org

Autism Speaks: www.autismspeaks.org and Autism Society: www.autism-society.org

Sensory Processing Disorder
Star Institute: www.spdstar.org/basic/understanding-sensory-processing-disorder

Apraxia Kids: www.apraxia-kids.org

Rare Diseases:
Global Genes: Globalgenes.org

NORD: 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. We have a lot going on and the best way to not miss anything important is to sign up for our newsletter.  

Syngap Research Fund - US Based Organization

Blog: syngapresearchfund.org/blog
Website: Syngapresearchfund.org

Syngap Global Network - Global collaboration between Syngap organizations and advocate groups around the world.

Website: https://www.syngapglobal.net

How can you help?

We recognize that all of this can be overwhelming. The only expectation we have is that you do what you feel comfortable and what you think is best for your family. We are here whenever you need us.
If you feel like you would like to get involved and help the cause here are some options for you:

Volunteer: SRF is managed by a team of Syngap parents and we are always happy to welcome new parents who want to get involved and make a difference in the Syngap community.
Let us know how much time you have available and you area of interest and we will find something that fits your needs. We need volunteers in the following areas: Family Support, Fundraising support, Marketing and Communication, Blog management etc.

Fundraising:  If you are interested in raising money for SRF, please know that 100% of the funds will go toward research and are often matched.  If you don’t know where to start, we can provide a toolkit and help you run a successful campaign. For more information please contact Peter at peter@syngapresearchfund.org.

Share your experience with other families: Our blog is a vital part of our community and we welcome anyone who would like to share their story or lessons learned from their Syngap journey.

Advance research: Data is critical to advance research. SRF has partnered with Ciitizen to build a comprehensive Syngap Natural History Study, using cutting edge technology that allows families to share all the medical records in a central place. Ciitizen is available at no cost to families and it only takes 15 minutes to get everything set up. You can sign up at www.ciitizen.com/syngap1.

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