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SYNGAP Community

SYNGAP Community

SYNGAP Community

With a series of blogs and a 50% off on all tests, Dante Labs is thrilled to work with Dazzle4Rare to make Whole Genome Sequencing accessible to more people and help them live a better life. 
Monica Dudley-Weldon has shared her story.

About #Dazzle4Rare

Dazzle4Rare represents a group of non-profit communities, patients, and caregivers across genetic and acquired conditions. Banding together means to finally have a voice, thanks to social-strategies in order to reach each other’s friends and family networks. 
By sharing stories, people have an opportunity to raise a greater awareness and, finally, to be heard. 
The more they speak up and speak out, the more likely they are to reach those who may need to hear their message the most.
Dante Labs is happy to give its voice and help them share their words.

Being a True Pioneer for Rare Disease: Monica Dudley-Weldon's story

When Beckett was four months old, Monica Weldon noticed he was not meeting the same milestones as his twin sister Pyper. Soon after, while she observed Pyper continuing to meet her milestones, Beckett fell further behind. Thus, the journey to find answers to help her son began. After many doctors' appointments and extensive testing, they finally had a clue when Beckett got diagnosed with SYNGAP1. That news, delivered through a phone call on December 14, 2012. He was the 6th patient in the world identified with a SYNGAP1 mutation. At the time of Beckett's diagnosis, SYNGAP1 was so rare; no one knew anything about his condition. They didn't know there were others out there like him. It was indeed the loneliest and most helpless time in her life. Having a child with an ultra-rare disorder and very little information about
SYNGAP1 was frightening and lonely. She became very discouraged by the lack of information about her baby boy Beckett's diagnosis. The lack of knowledge and availability of help led her to start Bridge the Gap -SYNGAP Education and Research Foundation to connect with and help other families. She knew
there had to be more families and information somewhere. If not, she was determined to find other families with a child similar to her son Beckett and build what was needed to help them
have a better life.
Since its inception in September of 2014, the organization has grown. It was because of the help of a volunteer board of trustees and parents' tireless efforts. BTG's first step was to seek
out other SYNGAP1 families. Building relationships, gaining valuable input regarding shared goals, helped shape their program priorities. Concurrently, they began engaging with SYNGAP1
clinicians and researchers to build diverse collaborations within the SYNGAP1 community.
Bridge the Gap - SYNGAP Education and Research Foundation has now grown into the largest international patient advocacy organization driving research initiatives for SYNGAP1 families in
the world. Also, Bridge the Gap maintains the largest SYNGAP1 (MRD5) Registry and Natural History Database, coordinating with NORD and grant funding provided by the FDA. The registry
helps us provide the data needed to accelerate SYNGAP1 research.
Monica currently has served as the President/CEO of Bridge the Gap for six years. She has continued on her mission to help other families affected by this rare disease. The organization raises awareness about the disease and raises funds and coordinates with researchers to accelerate research efforts to find treatments for SYNGAP1. From the start, she envisioned a comprehensive mission and business strategy that encompassed multiple program goals. Since Beckett's diagnosis, the work that has helped improve not only improve Beckett's quality of life but many of the lives of the SYNGAP1 community.
In the beginning, she felt uncertain; she now has a positive outlook when it comes to what the future holds for Beckett and other SYNGAP1 patients and families. Through hard work and
perseverance, she now has hope that Beckett and the SYNGAP1 patient community will have an opportunity to achieve their highest possible independence and quality of life. Most of all, she
wants Beckett, and others affected SYNGAP1 to be happy!

Series 5: SYNGAP

As a way to raise awareness around rare diseases, Dante Labs has decided to create a series of blogs to give people a higher understanding of SYNGAP. 

SYNGAP1-related intellectual disability is a neurological disorder characterized by moderate to severe intellectual disability that is evident in early childhood. The earliest features are typically delayed development of speech and motor skills, such as sitting, standing, and walking. Many people with this condition have weak muscle tone (hypotonia), which contributes to the difficulty with motor skills. Some affected individuals lose skills they had already acquired (developmental regression). Other features of SYNGAP1-related intellectual disability include recurrent seizures (epilepsy), hyperactivity, and autism spectrum disorder, which is characterized by impaired communication and social interaction; almost everyone with SYNGAP1-related intellectual disability develops epilepsy, and about half have autism spectrum disorder.

SYNGAP1-related intellectual disability is caused by mutations in the SYNGAP1 gene. The protein produced from this gene, called SynGAP, plays an important role in nerve cells in the brain. It is found at the junctions between nerve cells (synapses) and helps regulate changes in synapses that are critical for learning and memory. Mutations involved in this condition prevent the production of functional SynGAP protein from one copy of the gene, reducing the protein's activity in cells. Studies show that a reduction of SynGAP activity can have multiple effects in nerve cells, including pushing synapses to develop too early. The resulting abnormalities disrupt the synaptic changes in the brain that underlie learning and memory, leading to cognitive impairment and other neurological problems characteristic of SYNGAP1-related intellectual disability.

Advantages of getting the Whole Genome Sequencing for SYNGAP

Genetic tests for people with SYNGAP were far from routine as they used to be limited and too expensive. Whole Genome Sequencing is changing the scenario, as it is comprehensive and gives better chances to yield diagnostics results, change lives. They are not intended to diagnose SYNGAP  — no known mutation leads to the condition every time -  but results can substantially alter the course of treatments or prevention.

  • Genetic testing provides insight into the bigger picture
    It will identify mutations and defects that cause insidious injuries not easily seen by other test techniques. Identifying whether you carry a genetic mutation your genetic mutation can help you determine if you are eligible to enroll in certain clinical trials, the correct one for you.
  • Individualized treatment 
    People with a specific genetic mutation will produce better responses and more effective therapies.
  • For families
    It offers you the chance to enlighten your family members of the potential predisposition: through precise genetic testing results; you can get a glimpse of the probability of a family member getting a given gene-linked disorder.
  • For the entire community
    It helps you to find the right way forward. Beyond benefits for the individual, sequencing exomes may be the only way scientists can uncover the full list of mutations related to autism. Understanding the connection between Autism and genetics can help us understand how the disease develops and ultimately how it can be treated or cured.

Dante Labs will offer its continued support: Whole Genome Sequencing and Whole GenomeZ at 50% off using DAZZLE4RARE discount code.

Together is better!

 

(Monica Dudley-Weldon, http://www.bridgesyngap.org, @bsyngap on Twitter)