A year ago I was pregnant with my first child, beyond excited to be starting our family. At our 20-week ultrasound, we were told there was something “wrong” with our baby and she likely had skeletal dysplasia. From that point, the doctors asked both my husband and me if we wanted to terminate our pregnancy. This was NOT AN OPTION for us. We knew that despite what was going on with our child, we would love her.
We went to Cleveland Clinic for a second opinion, but received the same information with no real answers. After countless appointments with several doctors telling me that my baby would not survive or how children with the same ultrasound results do not make it to birth, we were desperate for some positive news.
I decided to reach out to my then president and CEO of FedEx Custom Critical, Virginia Addicott, who sits on the Akron Children’s Board of Directors, and she graciously gave me a referral to the Akron Children’s Fetal Treatment Center. Walking into our first appointment at ACH, we were very nervous. However, Dr. (Melissa) Mancuso (a Maternal Fetal Medicine specialist and Medical Geneticist), Genetic Counselor Katherine Krepkovich and Nurse Practitioner Sue Nicholas made this appointment easy for us and provided the much needed information that we were looking for. We were given options for genetic testing and we were able to get our blood drawn that day to get the answers we needed.
Once we received our results, we got answers that we weren’t expecting. Before we received our results, the doctors threw around the term, “Achondroplasia.” When Katherine called to give us our results, she said words that I did not want to hear, “Osteogenesis Imperfecta.”
Our daughter had her diagnosis, and it was scary. With brittle bones, everything changes. Breaks in utero, delivery complications and a lifetime full of worry and pain. Again, Akron Children’s made this journey easier for us. We were immediately put into contact with the Skeletal Dysplasia Center, which miraculously had an OI Clinic already established. We met with Dr. (Frank) Artinian and Shannon Lesley-Pasternak right away. They spent 2 hours with us, answering any and all questions that my husband and I had, putting our minds at ease.
Leading up to the birth of our daughter, we had countless ultrasounds and check-ins to ensure our daughter was growing and getting what she needed from me. Going into delivery, I was nervous, but the doctors at Akron Children’s walked me through my options and made me feel very secure in my decision, a c-section.
On July 2, 2019, our beautiful daughter Eleanor Mae was born by way of a scheduled c-section. She was healthy and weighed 6 pounds, 4 oz. My little peanut. We were told she looked great and did not have any visible breaks, and she was allowed to go home with us, like any other baby would.
Two weeks later, we experienced something we did not think we would have to deal with so soon. Eleanor broke her femur while being held. We went to the ER and we were terrified. After our x-rays came back, we found out that Ellie did in fact break at birth, and also likely broke her other femur while in the womb. We were told her bones looked like she had osteoporosis and she had several healing fractures. All of this was frightening to us. However, Shannon from the Akron Children’s OI Clinic came down to our room and provided comfort and support for us during this time, something most hospitals would not have been able to provide us.
When Dr. Artinian, the OI Clinic Medical Director, heard about Ellie’s fracture, he immediately moved our OI Clinic date up and created Ellie’s care plan with us.
The plan involves Ellie coming to Akron Children’s every 8 weeks for 3 days in a row to receive Pamidronate Infusions and visiting the OI Clinic every 6 months. The infusions help make Ellie’s bones more dense and decrease her fracture rate. Ellie has since had 4 treatments. Without these, Ellie would be fracturing much more often and would not have the strength she has today to do what most babies do at her age.
Our family is beyond thankful for the support and care we have received for Ellie from 24 weeks in utero to 6 months of age. I do not know what we would be doing or where our care would be coming from if Akron Children’s wasn’t here. We are forever grateful for the staff and their support.
Our baby girl is thriving and proving many of her original doctors wrong!
For more information on how you can donate and get involved in the “Have a Heart, Do Your Part” radiothon on Thursday and Friday, 6 a.m. to 7 p.m., visit akronchildrens.org/radiothon. Follow on social media with the hashtag #KDDRadiothon.