Marissa Bishop, a Southbury mom of 1, is on a mission to raise awareness and funds to support research in finding a cure for Cdkl5 Deficiency Disorder. Her son Gregory, age 3 was diagnosed with this neurodevelopmental disease. Read today’s interview to learn about Cdkl5, an upcoming 5K in our area to support research, and Gregory’s upcoming June art exhibit.
Where are you originally from and how long have you lived in our area?
I grew up in Massachusetts. After going to college and graduate school in North Carolina and living in the Dominican Republic for a year, I settled in Connecticut because my husband is from here. I have been in Southbury since 2009.
Child(ren) and Age(s)?
Gregory is my only child. He just turned 3. He is a special little guy with a diagnosis of Cdkl5 Deficiency Disorder.
One thing people would be surprised to know about you…
You would probably be surprised to know that (because of my time in the Dominican Republic) I love bachata music and I’ve seen Aventura (a bachata group) in concert four times! I also love reggaeton music, although I think I may be getting too old for it now!
Favorite things to do with your kids?
My favorite things are snuggling (he’s a great snuggler!) and pushing him on his adaptive swing. He really likes that! Most playgrounds don’t have a swing that is supportive enough for him – unfortunately even the “special needs” swings some parks have don’t work for him. I’d like to try and explore more around the area and see if we can find something that works.
Favorite spot in our area?
I really like Southford Falls. It’s an easy hike and not too long. The pond is so pretty. It’s a quick outdoorsy thing to do without making a big commitment. My favorite spot to take Gregory is probably the Middlebury Trail. It’s paved so easy to push his wheelchair and far enough to make a nice long walk out of it.
What is your proudest mommy moment?
This is a hard one! Honestly, anything that Gregory does that is intentional makes me proud. His Cdkl5 Deficiency Disorder makes even the most basic of tasks extremely difficult. Seeing him coordinate his body to activate a musical toy is always exciting. When he can hold his own head up for consecutive minutes it is awesome every time. His skills come and go depending on the intensity of his seizures. I’m just proud that he keeps trying and learning every day despite tremendous challenges.
I noticed that Cdkl5 Deficiency Disorder was discovered only about 15 years ago. For those unfamiliar, can you describe what it is?
Cdkl5 is the name of a gene that we all have. It is vital for proper brain function. Cdkl5 Deficiency Disorder is a rare neurodevelopmental disease caused by mutations in the Cdkl5 gene. The impact is devastating. The hallmarks are early-onset, intractable (difficult to control) epilepsy and neurodevelopmental disability impacting cognitive, motor, speech, and visual function. Although rare, the occurrence is believed to be approximately 1 in 40,000 to 60,000 live births, making it one of the most common forms of genetic epilepsy.
The majority of Cdkl5 mutations are considered “de novo” meaning they happen spontaneously and are not inherited. It is a relatively new diagnosis, the Cdkl5 gene was only identified in 2004, but as genetic testing for disease has become more prevalent and less expensive, more cases are being diagnosed now than ever before.
It is a difficult diagnosis. Most people affected by Cdkl5 Deficiency Disorder will have daily seizures and other medical complications, will never walk or speak and will need total care for life. Gregory has been having seizures since he was four weeks old.
From what you shared with me, there are several clinical trials going on right now aiming to find new treatments and a cure. Can you share the advancements that have been made?
We are so fortunate that Cdkl5 Deficiency Disorder is being actively studied by the scientific community and this is thanks to the International Foundation for Cdkl5 Research (IFCR). The IFCR works with international partners to fund scientific research projects that further the understanding of the Cdkl5 gene and the natural history of Cdkl5 mutations in patients. I am so hopeful for the scientific advancements to come not only for epilepsy treatments that actually work, but for curative treatments like gene therapy or enzyme replacement therapy. Right now there are four clinical trials happening for Cdkl5 patients with a focus on epilepsy treatment and, excitingly, it was announced in 2018 that a collaboration is underway to develop a gene therapy approach for Cdkl5 Deficiency Disorder! Gene therapy would theoretically be a cure!
Besides being Cdkl5 Awareness Month, June is a busy month for you in helping to raise awareness and funds to continue to support advancements in treatment for Cdkl5. Let’s start with the Starfish 5K and how to get involved in Newtown. What’s happening on June 9th at Fairfield Hills?
June is Cdkl5 Awareness month and we try to do something to not only raise awareness, but to raise funds for the IFCR so that the important scientific research can continue. Last year I hosted Support For Starfish Virtual 5k, a do-it-on-your-own-time 5k with an online donation link. We had walkers participate all over the country! I hosted a group of family and friends to do a 5k together at a local park. It was such a hit that we are doing it again! Our friend Jen has offered to host the 5k this year. We are walking the loop at Fairfield Hills on Sunday, June 9 at 10am. All are invited! Whether you join us on the 9th, 5k on your own time (remember it’s virtual!) or just want to support our cause the link to donate to is https://give.everydayhero.com/us/support-for-starfish-virtual-5k-2019. The event is called Support for Starfish because the starfish is the unofficial mascot for Cdkl5, inspired by The Starfish Story (The Star Thrower) by Loren Eiseley. It’s about how one person can make a difference no matter how small and we should never give up trying to help.
I know you have a love for art and you have passed that on to Gregory. Can you tell us about Art for Hope/Love/Cure?
An ongoing special fundraising project we are working on is called Art For Hope/Love/Cure. I’ve done small painting projects with Gregory since he was an infant to give as gifts for family and friends. I noticed that they actually came out very pretty! I had the idea to “sell” them for a donation as a fundraiser for the IFCR. We have had so much fun! We sold Gregory’s art at Open Studio Hartford 2018 and we are about to have a Rare Starfish collection on display at the National Organization for Rare Disorders (NORD) at their Danbury office in June! We also will have ornaments available during the holidays and, of course, paintings and painted wooden pieces all year long. You can follow us on Facebook and Instagram @ArtForHopeLoveCure and visit our website. If you’d like a painting in a specific color scheme or size – we happily accept commissions! And 100% of the “sale” goes directly to the IFCR via a direct payment link.
You can learn more about Cdkl5 by clicking here. For more information on the Starfish5k and to join us on 6/9, please visit here and please visit here for to view Gregory’s artwork that directly raises money for Cdkl5 research.