In early 2017, Kristen MacKellar had just finished nursing her 3-month-old baby boy to sleep. A snuggly baby, she typically nursed Samuel in her bed and later transferred him to his crib for safe sleep. Though on this day, he was especially tired and she didn’t want to disturb him. But when she stepped away for just a second, the unfortunate happened. Samuel rolled off the bed.
Samuel suffered 13 broken ribs, a fractured skull and broken neck. She immediately rushed him to Akron Children’s Hospital, but Kristen couldn’t help but wonder if something else was going on.
“I knew right away something terrible had happened because when I picked him up, his head felt differently, misshapen,” said Kristen. “It seemed like unusually severe injuries for a short fall onto a rug. I suspected then that he had brittle bones. I took it as a sign that Samuel was my breakable one.”
At age 6, Kristen was diagnosed with Osteogenesis Imperfecta (OI), a genetic bone disorder where bones break easily due to a collagen deficiency.
Kristen was born with 3 broken ribs. The hospital feared her mom had hugged her too tight after birth, but when she continued to break bones in her early years, her provider sent her to the local pediatric hospital where she was later diagnosed.
“I’m always riddled with pain and any slip or fall, I wind up breaking something,” said Kristen, 23. “My condition is always weighing in the back of my mind because I’m afraid of breaking something. It doesn’t take much. I’ve popped ribs just by sneezing. I shattered my tibia and fibula from just walking.”
After Samuel was treated for his injuries, he was referred to Akron Children’s Osteogenesis Imperfecta Clinic.
Doctors performed molecular genetic testing and skeletal surveys on Samuel, and later diagnosed him with Type V OI, one of the rarest types.
“Type V OI is generally considered a moderate form of OI,” said Dr. Frank Artinian, medical director of the OI Clinic. “With that said, all OI is quite serious and the terms mild, moderate and severe may be misleading. For instance, even individuals with type 1 OI can potentially have a hundred lifetime fractures, which no one would consider mild.”
It wasn’t until Samuel was diagnosed with OI in 2017 that Kristen realized all of her children were also suffering from brittle bone disease. The entire family — Kristen and her 4 children: Sebastian, 5, Serenity, 3, Samuel, now 2, and newborn Sarah — all have OI. Sarah has all the markings for OI and is currently undergoing genetic testing to confirm suspicions.
Serenity’s condition seems to be the most severe. She once stubbed her toe and wound up breaking her tibia and fibula (lower leg bones). This year alone, she’s broken her leg twice, her arm, shoulder and back in 3 different places.
Sebastian had a broken rib at 3 months old due to an unknown cause, and Sarah was born with a broken arm and 2 rib fractures.
“My kids may be breakable, but they have unbreakable spirits,” said Kristen. “OI doesn’t hold us back from doing what we want to do. Whatever someone wants to do, they do it. We just figure out a way to make it safe for them.”
Treatment for Osteogenesis Imperfecta
Though there is no cure for OI, treatment is directed at managing the symptoms to minimize fractures, reduce pain and enhance daily function. Kristen and her family make frequent trips to Akron Children’s Infusion and Sedation Center for bisphosphonate therapy to help increase bone density.
The family also consults with the department dietitian to maximize bone health, such as taking vitamin D and calcium supplements.
Samuel gets bisphosphonate therapy every 8 weeks, while his older siblings, Sebastian and Serenity, receive it every 16 weeks. The therapy involves administering the drug intravenously over a 3-day period for about 7 hours each day.
“Bisphosphonate medications work by blocking the cells in bone that function to break down bone,” explained Dr. Artinian. “Bone remodeling is a normal process of building, breaking down and building bone again. By blocking some of the bone break down, we have unopposed building which has been shown to lead to increased bone density, less bone pain, stronger vertebra and less fractures.”
Before the infusion therapies, Samuel could barely sit up without support at age 1. Over the past year, he’s been able to fully sit up, crawl, learn to walk and now he’s running around like a typical 2 year old. What’s more, he hasn’t broken a bone (knock on wood!) since he started the therapy.
The MacKellar family also has yearly checkups with Dr. Artinian at the OI Clinic and makes frequent trips to Akron Children’s Orthopedics when the unfortunate happens and someone breaks a bone.
“Our family shares a strong bond because of our condition,” said Kristen. “We all know exactly what the other person is going through. We have each other to lean on for support and comfort to get us through.”
Though at times the family struggles with acceptance because caretakers, teachers, friends and others are afraid of breaking their bones, Kristen’s kids are just like any other children. They love to go to the park to explore, curl up on the couch to watch movies and have dance parties in the family room.
The family knows they have to be extra careful while playing because they have brittle bones, but they don’t let it stop them from having fun.
“Our condition is a bit of an afterthought in our daily life,” said Kristen. “We need to focus on the positive even if we are breakable. If we focus too much on the negative, it will hold us back. I’d rather they break a bone while doing something fun, than hold them back from life to prevent a fracture, which is inevitable anyhow.”