Emily Kubik is this week’s Meet a Mom! This Riverside mom of two has a special story—her daughter Elodie (3) was born with epidermolysis bullosa, referred to as EB. “EB is a rare genetic condition. Elodie’s subtype means that she is missing collagen 7, which is one of the proteins that helps bind the layers of the skin together. So her skin is effectively super, super fragile,” explains Emily, who is also mom to Gus (1). Normal day to day activities can cause wounds, both external and internal. “Unfortunately collagen 7 is throughout the body (like your mouth, esophagus etc) so she has to be very careful with what she eats,” says Emily. Life expectancy for Elodie’s type of EB is just 30 years old. “Eventually all the repeated wounding takes a toll on the body and people develop a very deadly kind of skin cancer that is a common cause of death for EB patients.” Emily says that EB is just a small part of Elodie. “She is a happy, smart, funny little girl who brings us so much joy,” she shares. Here is more about Emily, Elodie, and their remarkable Greenwich family:
When did you first notice something was going on with Elodie?
When Elodie was born she was bleeding and had almost like a scrape on her leg. When they took her back to wash her off, skin came off her ankle and they knew something was wrong. They told us we had to transfer her to either Yale or Columbia right then, so she went by ambulance to Yale only a couple hours after she was born. It was very scary—the nurses and doctors could not tell us that she was going to be OK. A couple months later, I saw one of the doctors that went with her that night and she told me she was legitimately not sure what was going to happen that night. Greenwich Hospital was great; one of the physicians assistants identified that it was likely EB right away, after likely never seeing it in her career.
Where does Elodie go to school?
Elodie is at school at St. Paul’s Day School in Riverside who has been so accommodating and welcoming to us. I am eternally grateful to them. When we first got home from the NICU a friend organized a meal train so we had different people bringing by food every other night. it was wonderful and also gave us an opportunity to talk to our friends and neighbors about what was happening. I feel like so many people in Riverside know Elodie and know about her skin and for all the stares we sometimes get, we also get a lot of smiles and people who go out of their way to make Elodie feel welcome.
That’s wonderful. Have you had any local doctors or specialists you’d like to mention as being exceptional?
We have seen doctors all over the country as you might imagine, but having a local team is really important. Two of my faves are Anthony Porto for GI issues – seriously, the best ever. He is a hard appointment to get but worth the wait. He sees patients in Greenwich a couple times a week and is affiliated with Yale. Big Leaps in Stamford is my other fave—they basically taught Elodie how to walk. I can’t recommend them enough. Elodie’s therapist also weaves so much into her sessions—numbers, shapes, colors.
What keeps you going personally, and as a family?
For me personally, I keep my focus on making sure that research is getting funded. We are very, very close to being able to treat so many rare genetic diseases, of which EB is one. But there are so few people affected by EB, I can’t sit back and wait for someone else to do the heavy lifting. I believe that we and all of our supporters will be part of ending this disease and making sure no more people die from EB and that is an amazing thing.
What message would you send to other moms out there dealing with a health crisis affecting their kids?
First, you aren’t alone. EB is so visible that I had no choice but to be open about what was going on. I am not sure that I would have been otherwise. But I am so glad that I was. The hardest conversations I have are when the other person doesn’t know Elodie has this disease and I feel too tired to explain it all, so I just go along with it—it never feels right. I have also lost count of the times that I have talked about EB and another mom tells me about a challenge they are dealing with. It’s helpful to hear we are all in this together, that we aren’t alone in having these challenges.
How can people help?
We have an annual fundraiser, the Plunge For Elodie, and for the first time, we are going to be hosting a plunge in Old Greenwich at Lucas Point Beach on March 8th at 8AM. There will be other plunges that same weekend in Boston, San Francisco, London and Staten Island. Our goal this year is $250K, and we hope that anyone who is touched by this story will consider donating and plunging!
We always love to support local businesses. Would you be able to share:
Your favorite places to go as a family
In the summer, we love to grab sandwiches (Something Natural!) and have a picnic on our motor boat – our kids are so young so it’s fun to just go pick up a mooring near Tod’s Point and hang out.
Your favorite restaurant to go to as a family
My husband and I are devotees to Applausi in OG for great Italian and walking to Ada’s in Riverside for either breakfast or lunch is our fave—with a stop at Riverside school playground on the way home.
Where you like to shop for the kids
Go-to lunch spot
Given I work near the Avenue, I get lunch from Granola Bar almost every day! Their turkey chili is my go-to, especially in the winter when it’s so cold!