My SYNGAP1 Drive-a-thon, Hope4theCure

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Rainy Schlosser is Mom to Hope, who was diagnosed on 11/27/23 with SYNGAP1. Within months of this diagnosis, she expressed an interest in taking part in as many clinical trials as possible to help find a cure. Hope was accepted into three trials, all of which will require traveling from their home in Redding, CA. Rainy’s plan for their epic road trip includes an estimated 6,951 miles in 25 days!

Fundraiser page – Syngap.Fund/Hope4theCure
Donate via text – text CUREHOPE to 53-555

To say that Hope was/is a miracle baby is an understatement! Several years ago, I was put on life support after hitting my head during a bus incident. During surgery prep, I found out that I was pregnant. I was experiencing seizures and on all kinds of medications, and then my unborn baby tested positive for trisomy 13 or 18. I was told that her survival was unlikely and that I should abort my pregnancy. I decided to ignore their advice.

Three weeks later, it was discovered that the trisomy diagnosis was a false positive.

Hope was born in July of 2019, and quickly became my sole purpose in life. She wouldn’t cry. She slept through the night from day one. Though most parents would love this, it was a major issue, as she needed to eat. At three months, Hope was diagnosed with torticollis and fitted with a helmet. She started missing major milestones at 9 months and began several weekly therapies. 

When Hope turned one, X-rays showed a 31-degree curve in her spine. At 15 months old, Hope began several procedures to correct this and was placed in a body cast for 14 months. She also struggled with hypotonia, feeding issues, failure to thrive, and developmental delays. Hope was below the first percentile in weight, and a feeding tube was implanted in September 2022. Seizures (drop and absence) began in August 2023 at age 4. In October 2023 she was diagnosed with Autism. Hope’s SYNGAP1 diagnosis was received on 11/27/23.

I was devastated – I didn’t want to post or say much about it until I learned more. I found a couple of sites, including SynGAP Research Fund, and appreciated how “put together” the information was and how credible it seemed. I joined the Facebook support page & posted for the first time. Never in my life have I had so many likes, hearts, and comments. I didn’t have family living near me, but I didn’t feel so alone anymore. I also realized that I had to do as much as possible to help find a cure.

When I saw the opportunity for three in-person studies, I looked into making it happen. I’m a single, stay-at-home Mom, and understand that many SYNGAP1 families have to work and can’t get to the studies. I could make the trip, so why not? Unfortunately, the cost of airfare even just to the closest study in LA, made me realize that flying to all three would be out of the question financially. After talking with Mike Graglia, the idea of a road trip was born.

Hope is used to long road trips. We took 19 trips to Shriner’s Hospital when she was very young. A year ago, my Dad died and 6 weeks later, my mom passed away. We couldn’t afford to fly to Oklahoma or LA, so we got in the car and drove instead. Hope did great and loved camping every night. She doesn’t have much screen time (it makes her behaviors more severe), but she loves sensory toys and mirrors. (She loves looking at herself!) Her favorite thing is driving. She often tells me, “Car, car, car, go!” So, off we go!

Our tentative itinerary:

  • March 28 – leave Redding, California
  • March 29 – 1st appointment at UCLA (see information below)
  • April 1 – Arrive in Norman, Oklahoma for a visit with family
  • April 3 – Drive to Texas
  • April 4 – Cook Children’s Hospital appointment (see information below) then back to Oklahoma
  • April 7/8 – Leave Oklahoma
  • April 10  – Arrive in Philadelphia
  • April 11 – CHOP (see information below)
  • April 12 – Day trip to Atlantic City, New Jersey
  • April 13 – Begin cross-country trip home
  • April 14 – Arrive in Chicago
  • April 16/17 – Arrive in Colorado
  • April 17/18 – Arrive in Wyoming
  • April 21 – Arrive home in Redding

One of Hope’s caregivers will join us on this trip. Her name is also Hope, so we call her “Big Hope” or “Sissy”. Most nights on the road will be spent staying with friends and family or camping, except in Flagstaff, where it’s really cold!

A local family-owned business (Signarama) is sponsoring our trip by offering a 50% discount for decorating the car with QR codes and @Hope4theCure, Drive-a-thon, donate here and @curesyngap1 decals. We will also be putting Syngap1 stickers on our cargo box.

I’m going to try to get some t-shirts made. I also want to have decals saying follow us on YouTube but first, I need to learn how to post things on YouTube! We will keep track of the miles each day and encourage people to donate to SRF per mile or per state we visit along the way.

Details are still being finalized, but the plan is to have the trip of a lifetime full of incredible memories and adventures. I’m excited for these studies and a chance to do my part in finding a cure. I’m also incredibly excited to meet doctors who already know what SYNGAP1 is as well as other Syngap families along the way.

Although we were only recently diagnosed, I have discovered that there are many rare diseases out there. Few seem to have the support system that SRF provides. I listen to SynGAP10 to learn about what else I can do. It gives me comfort that I’m doing as much as possible in an impossible situation.

I’m so grateful to SRF for their assistance and time spent helping me plan this adventure. I want to pay this forward by welcoming other families too. One more word of advice to newly diagnosed parents – don’t close off your mind to what you think your child will be capable of doing – every child varies in what they can do.

The studies:

  1. UCLA – EEG and questionnaire to evaluate SYNGAP1 biomarkers for measuring in future studies
    2. Contact
    3. Requirements – SYNGAP1 diagnosis, enrolled in Ciitizen, 2-11 years old
  2. Cook Children’s – Blood Draw & EEG to assess the amount of gamma-Aminobutyric acid (GABA) in the brain, which may affect seizures
    2. Requirement – SYNGAP1 diagnosis
    3. Contact
  3. CHOP – Collection of information by doctors/clinicians/therapists from parents and patients to prepare for future trials
    2. About ENDD –
    3. Requirement – SYNGAP1 diagnosis
    4. 2024 Updates to the SYNGAP1 Natural History Study at CHOP
    5. What to Expect when You’re Preparing to Visit the SYNGAP1 Natural History Study
    6. Natural History Study at Children’s Hospital of Philadelphia is a Natural Win for SRF & SYNGAP1!
    7. Paper in Science Direct:  Accelerating therapeutic development and clinical trial readiness for STXBP1 and SYNGAP1 disorders

(I may try to stream part of some of these appointments!)

Connect with Rainy and Hope