90 - Quest to raise money for a cure

Suzanne & Brent Jones are parents of three children, the youngest of whom and their only daughter was diagnosed with SYNGAP1 at age 10.

Our daughter, Jansen, is sick – please help us find a treatment.  In honor of Jansen’s birthday month and recent genetic disorder diagnosis, Brent and I are on a quest to RAISE MONEY for a cure!

https://syngap.fund/jansen 

SYNGAP1 Disorder. Never heard of it. Never cared to hear of it. Yet here we are. The mystery of why Brent’s and my only daughter, Jansen, is special needs has been solved. SYNGAP1 Disorder. These two words have forever changed the course of our family’s trajectory. We’re realizing an end to our anguished search for answers and the commencement of a pursuit filled with hope.

Jansen's Journey began 11 years ago this October when she was born. At the time, our sons, Wyatt and Porter, were ages 4 and 2 respectively. The addition of Jansen, as I continue to say to this day, “rocked our world!” She’s our family’s delightful little caboose, but life as we knew it was forever changed. Jansen has struggled to meet childhood milestones since infancy, but we just couldn’t understand why. Feeding difficulties as a tiny baby and general developmental delay as a toddler evolved over time into a growing list of complications. Among other symptoms, Jansen now suffers from epilepsy, intellectual disability, severe speech & language disabilities (she uses 2-4 words at a time), low muscle tone (hypotonia), general fatigue, sleep problems, gait abnormalities, coordination & motor skill issues, eye problems (crossed eyes & intermittent outward turned eye), growth decline, high pain tolerance, and behavioral concerns.

We never gave up fighting for answers. Various doctors suggested we quit searching. Other doctors made light of Jansen's situation. We’ve traveled the country looking for guidance to no avail. Hours of therapies (physical, occupational, oral motor, speech & language, communication, processing, hippotherapy, etc.), special preschools, tutors, IEPs, special elementary schools, and special needs sports are where we’ve focused our time and energy – not to mention money. We’ve spent years disappointed that doctors have not been interested in partnering with us to problem solve the worsening mystery facing our family. But we have carried on. Even as recently as last January, we emailed our geneticist at Emory beseeching her to further brainstorm on Jansen’s puzzling medical situation. We were particularly frantic since Jansen has continued to face new medical complications and seems to be declining. Left with few remaining options for discovery, Jansen's geneticist recommended one last genetic test. So, despite a ~7% probability of uncovering new information (since Jansen has undergone extensive genetic testing since age 3), we submitted Jansen's DNA for Whole Genome Analysis. Shockingly, a discovery was made! Jansen has SYNGAP1 Disorder.

SYNGAP1 is a de novo genetic mutation — a completely random/new variant — in one of two copies of this gene. The SYNGAP1 gene encodes for the protein, SYNGAP. Normal levels of SYNGAP protein are essential for proper brain function and development. Within the brain, this protein is most often found at synapses where it regulates critical biochemical signaling pathways that support learning and memory capabilities. The neurological issues Jansen faces, as well as the related difficulties she endures, are all directly caused by a deficiency in SYNGAP protein.  This. Is. Tremendous.

Why is this tremendous?

• We have long-awaited answers and a better picture of what Jansen’s facing. This knowledge brings us both power and peace.

• We understand now that Jansen’s condition is not regressive. She will continue to learn and develop – just at her own pace.

• We have joined a SYNGAP community. Finally…we no longer feel isolated and alone.

• We see the very real possibility of a CURE. Science and technology have never before seen such a rapid period of innovation!

• Jansen is our cherished daughter and has brought us much joy and laughter. Witnessing Jansen’s obstacles, Brent and I marvel at her tenacity and take comfort in the realization that raising Jansen has, quite simply, made us better people. 

We don’t know why God has chosen for us to take this journey. But, we trust we’ll find the reason and will persevere in our endeavor to provide Jansen with the best life we can. We’re not asking for your condolences, but we are humbly requesting your financial help. Our desperate hope is for a CURE. We urgently want researchers to find more advanced treatments for SYNGAP1, and similar single gene mutations, as quickly as possible — which takes money and awareness.

We understand that this is a marathon, not a sprint, but we are shamelessly pleading for your donations now! If you have $5 or $500+ to put toward the SYNGAP Research Fund (SRF), we would be most grateful. The link to our fundraising campaign is below.

syngap.fund/jansen 

Brent and I will personally match donations 100%, up to $15k. Let’s do this!

Specifically, we are raising money for Rarebase, a public benefit biotechnology company, with whom SYNGAP Research Fund has partnered. Rarebase recently launched a tech-enabled drug discovery platform called Function. Function's 15 patient organization anchor partners (SYNGAP Research Fund, ADNP Kids Foundation, FOXG1 Research Foundation, STXBP1 Research Foundation, etc.) represent genes that cause epilepsy, autism, developmental delay and neurodegeneration.

Brent and I are thankful for each of you and your support. Our daughter, Jansen, is a treasured blessing whom we love fiercely. But we need your help making a better life for her a reality. Please share Jansen’s Journey and our appeal for awareness and support with friends and family. We truly believe that if all of our networks work together, we can find a cure to change Jansen’s, and other SYNGAP1 children’s, future.

Thank you so much in advance for the difference you are making with your donation in Jansen’s honor.

Forever Grateful,

Suzanne and Brent

P.S. Please also read more about the Jones' family journey and the determined spirit of sweet Jansen in A Rare Disease Day Interview of One Family's Journey, an interview done for Rare Disease Day 2022.

The SYNGAP Research Fund (SRF) is a 501(c)(3) public charity (EIN 83-1200789) headquartered in California.

For more detailed information on the race to cure the SYNGAP1 disorder, please read this article.