Owen is a sweet boy who is adored by his family (especially his big sister, Frankie). The family enjoys being outdoors, going to local breweries, and travel.
Owen was born on November 16th. Two weeks later, his parents learned he had Barth syndrome. With their new baby being impacted by this ultra-rare disease and living in the Neonatal Intensive Care Unit (NICU), it was some time before Amy connected with the Barth Syndrome Foundation.
Amy’s brother-in law was the first to make a move to connect with the Barth Syndrome Foundation. Then Amy and her mom met with Shelley, the Director of Family Services, to discuss what Barth syndrome is and the support that the Barth Syndrome Foundation offers.
“We’re going to become best friends” Shelley said.
Within the first call, Shelley connected Amy to the Kennedy Krieger Institute, which is home to an interdisciplinary clinic dedicated to the diagnosis and treatment of Barth syndrome.
The Barth Syndrome Foundation was also able to put Amy in touch with Dr. Stacey Reynolds, an occupational therapist professor at Virginia Commonwealth University who studies and researches Barth.
After the initial call, Owen’s family was able to meet some of the team at Kennedy Krieger in advance of the Barth Clinic in March. The occupational therapist at Virginia Commonwealth University offered guidance on signs to look for around Owen’s muscle tone and mobility function.
“We feel very grateful for the organization… this is like the very, very beginning. We have no idea where this relationship is going to go. It's possible that multiple people in my family will become more involved with the Barth Syndrome Foundation. This has triggered genetic testing for a lot of family members.”
Amy’s two cousins were diagnosed with congestive heart failure in the first 12 hours of life. Both are now in their late 30’s, early 40’s, and suspect they will receive a Barth syndrome diagnosis. One is living with a pacemaker defibrillator. One of Amy’s sisters with no children is a carrier, another has two boys and waiting to hear her results before getting her boys tested.
“Barth Syndrome Foundation is like a life raft to the hope because they're going to connect us to people that give us hope,” said Amy, “And that I think is something that we are grateful for and looking forward to is being a part of this community.”
