Before Lissa Elkins and her husband welcomed twins in 2019, their life was busy but “ordinary,” juggling kids’ activities, school, playdates, and work while managing a blended family and small business in Tennessee.
“The day Leo was born, everything changed,” said Lissa. “While one twin was healthy, the other couldn’t breathe lying on his back or latch to eat. A malformed jaw caused his tongue to block his airway, and he was born with both a hard and soft cleft palate.”
At just two weeks old, Leo, the only boy in the family, underwent jaw distraction surgery so he could breathe and eat, with a palate repair to follow. With no family history of similar issues, his medical team referred Leo to a geneticist. Based on his craniofacial differences and early signs of hearing and vision loss, Stickler syndrome was suspected and later confirmed through testing.
“This news was a complete blow at the time,” she said. “This syndrome was not hereditary for us. So, I just dove right into the only thing I could control at that time: researching relentlessly and getting him every possible support. ‘Mama lion mode’ was activated!”
Despite her research, Lissa wasn’t prepared for the progressive nature of Stickler and the multitude of challenges that have affected Leo’s airway, palate, hearing, vision, joints, growth, and development.
“Each stage brings a new specialist, new information to absorb, and new decisions that carry real consequences for his health and future,” Lissa explained. “The hardest part is that no one hands you an instruction manual on what to do. Each decision has lifelong implications, and it’s overwhelming, exhausting, and at times terrifying.”
On top of caring for Leo, Lissa was also balancing the needs of her other four children. The isolation she felt was profound, not having met other local families living with Stickler. Social media became her lifeline, helping her connect with families worldwide. She also participated in many online seminars on connective
tissue conditions, which led her to connect with the Foundation.
“The Marfan Foundation’s invitation to include Stickler families was incredibly meaningful and generous, and I jumped at the chance to finally meet other families impacted by Stickler,” Lissa said.
With the hope of learning more and meeting others face-to-face, Lissa and her family attended the Foundation’s 40th Conference this summer in Atlanta.
“The entire conference, the people, the presentations, the kids’ program, even the family party, was so thoughtfully planned and beneficial for all of us,” she said. “But more than anything, it was the ability to truly CONNECT that made the biggest impact. I left the weekend feeling energized and part of an incredible community – I needed that so much!”
Lissa has gained additional perspective through parenting Leo. “Before Leo, I didn’t have anyone in my life with a syndrome or special need. Now I see so clearly the value in our differences,” said Lissa. “Behind all the medical visits and challenges is simply a little boy who wants to play, laugh, and be loved just like any other kid. He has to work so much harder at the things most people take for granted, and yet he does it with the biggest smile on his face.”
Marfan Foundation Welcomes Stickler Community
This year, the Marfan Foundation expanded its mission by adding educational programming and support services for people living with Stickler syndrome – a milestone made possible through an agreement with Stickler Involved People, the nonprofit that served the Stickler community prior to sun-setting their organization.
Stickler syndrome is a genetic condition that affects collagen throughout the body. Because collagen is a key component of connective tissue like bone, skin, and cartilage, Stickler syndrome is primarily characterized by problems with vision, joints, and hearing.
Like Marfan syndrome, Stickler syndrome is an autosomal dominant genetic condition, meaning it can affect individuals of any sex (autosomal), and its traits will appear if an affected parent passes on the gene (dominant). Stickler syndrome is also a progressive condition, so symptoms typically worsen with age. People with Stickler syndrome face ongoing challenges of living with a lifelong condition, including fatigue, pain, and other complications that can significantly affect their quality of life.
Get Involved in Stickler
✓ Sign up for a Walk for Victory near you at marfan.org/walk
✓ Watch videos from our Stickler playlist on our YouTube channel @TheMarfanFoundation
✓ Subscribe to our emails at marfan.org/subscribe
✓ Join our monthly Stickler support group at marfan.org/stickler-connect
Susan Benvenuti is the VP, Integrated Marketing & Communications for The Marfan Foundation. She enjoys getting to know community members and sharing their unique stories. If you would like to share yours, we’d love to hear from you - get started by emailing sbenvenuti@marfan.org.