- April Kepner’s second baby, Samuel, was diagnosed with Osteogenesis Imperfecta type 2, a fatal bone disorder
- OI type 2 causes multiple fractures and deformities, and most babies do not survive past birth
- Samuel’s condition was discovered during pregnancy after an ultrasound showed fractured bones
- April and Jackson’s first child, Harriet, was born healthy without complications
- Samuel’s death shortly after birth was tragic but expected due to his medical condition
- Stillbirth from a disorder is different than miscarriage and was heartbreaking for April and Jackson
The journey to expand one’s family can be filled with hope and excitement. However, complications can arise during pregnancy that turn dreams into nightmares. This was the agonizing reality for Dr. April Kepner on the show Grey’s Anatomy when she learned her second baby had a fatal condition called Osteogenesis Imperfecta (OI) type 2. What exactly was wrong with April’s baby? Why was the prognosis so poor? How did this tragedy impact April and Jackson as parents? This article will examine OI in-depth, analyze what went wrong for baby Samuel, and explore the grieving process for parents expecting a stillbirth. By understanding the medical specifics and emotional landscape, we can better empathize with families facing these life-altering diagnoses.
April’s story highlights the painful truth that not all pregnancies end happily. Heightening awareness of rare disorders like OI is crucial for shaping a compassionate society. Additionally, Samuel’s short but meaningful life underscores the humanity within each person, no matter how brief their time on earth. Though heartbreaking, this event sparked poignant conversations about loss, coping and the true meaning of family.
What is Osteogenesis Imperfecta Type 2?
Osteogenesis Imperfecta (OI) is a genetic disorder affecting the body’s connective tissues, most critically the bones. It is caused by a defect in the gene responsible for producing collagen, an essential protein that provides structure and strength to bones, muscles, ligaments and other tissues. The defect results in extremely fragile bones that fracture and deform easily.
There are four main types of OI:
- Type 1: Most common and mildest form. Bones fracture easily but may heal normally. Short stature, loose joints, and blue sclera (white part of eye) are common. Life expectancy is normal.
- Type 2: Most severe and often fatal. Multiple fractures present at birth and worsen with movement. Respiratory failure likely due to rib cage deformity. Most babies do not survive past birth.
- Type 3: Severe form with progressively deforming bones and short stature. Mobility is limited. Life expectancy variable.
- Type 4: Moderate form with mild to moderate bone fragility and normal sclera. Short stature possible but not universal. Lifespan typically unaffected.
Tragically, April’s baby Samuel was diagnosed in utero with OI Type 2, the most severe form of this disorder.
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What Causes Osteogenesis Imperfecta Type 2?
OI Type 2 is caused by a mutation in the COL1A1 or COL1A2 genes which oversee collagen production. Collagen provides structural support throughout the body, so defects result in extremely fragile bones and connective tissues.
OI has an autosomal dominant inheritance pattern. This means only one genetic copy must contain the mutation to pass OI on to a child. In about 85% of Type 2 cases, the mutation occurs spontaneously rather than being inherited. The mutation happens by chance during cell development, often due to a sperm or egg cell error.
Unfortunately, April and Jackson experienced this “lightning strike” of OI as new parents. Genetic testing confirmed Samuel’s condition was caused by a random mutation rather than an inherited gene. Their first child, Harriet, was born healthy without OI as the mutation arose spontaneously in Samuel.
While OI itself does not directly impact other organs, secondary medical issues can arise from skeletal deformity or fragility. These may include:
- Restrictive lung disease from rib cage stiffness
- Breathing issues due to airway obstruction or spinal compression
- Hearing loss from bone deformities in ear
- Dental problems such as malocclusion
- Cardiovascular problems from chest wall defects
Managing these additional concerns presents major challenges for OI infants, with respiratory failure often the immediate cause of mortality.
When Was OI Type 2 Detected in April’s Pregnancy?
April’s second pregnancy initially seemed normal until an ultrasound at 23 weeks gestation revealed multiple fractures throughout the fetus’ arms, legs, ribs, and spine. This surprising finding led doctors to suspect OI, which was later confirmed through genetic testing.
Catching OI prenatally is uncommon but possible in severe cases where fractures are substantial enough to visualize on ultrasound. According to research, only 25% of OI Type 2 diagnoses occur prenatally. More often, the disorder is detected immediately after birth when symptoms manifest upon delivery.
Once OI was suspected, April and Jackson grappled with whether to proceed with the pregnancy or induce early delivery. This devastating diagnosis confronted the parents with heart-wrenching choices. In the end, they chose to continue the pregnancy and provide Samuel loving care for whatever brief time he survived after birth.
What is the Prognosis for OI Type 2?
The prognosis for Osteogenesis Imperfecta Type 2 is unfortunately very poor. The extreme bone fragility causes most infants to die within hours or days after birth, often due to respiratory failure. In a comprehensive study of OI Type 2, the median survival time was just 16 hours, with only 6% surviving past year one.
While OI Type 1 may be managed long-term with treatment, there are currently no treatments that can correct the collagen defect in Type 2 or prevent bone fractures. Supportive care aims to minimize fractures and secondary impacts, but the underlying condition remains irreversibly lethal.
Facing this devastating diagnosis was emotionally excruciating for April and Jackson. They knew Samuel’s chances of surviving infancy were virtually nonexistent. Their goal shifted to providing human dignity by welcoming him into the world with love, rather than preventing a heartbreaking but inevitable outcome. Despite grieving the dreams lost, they resolved to celebrate the precious moments they did have as a family of four.
What Was the Impact on April and Jackson?
Enduring a stillbirth due to a fatal diagnosis like OI Type 2 leaves a lasting mark on grieving parents. Throughout her pregnancy after Samuel’s OI was detected, April lived with constant worry and heartache knowing her baby would die. She wondered if she should have done testing sooner or if there were any signs missed. This anguish and guilt is common but misplaced, as nothing could have prevented Samuel’s condition.
Meanwhile, Jackson processed the loss by focusing intently on supporting April through delivery and their baby’s precious last moments. He set aside his own grief temporarily to be fully present as both April and Samuel needed him. Only after did the agony of losing his newborn son fully engulf him.
The couple proceeded to mourn Samuel in their own way while leaning on loved ones for support. April found comfort in photography and reminiscing about memories made. Jackson immersed himself in work initially before coming to terms with his grief. Despite sorrow, they found meaning through family bonds with daughter Harriet and in honoring Samuel’s brief but beautiful life.
Processing the loss of a child is a lifelong journey, but families like April and Jackson’s have shown incredible resilience. Though forever changed, their lives continued on while carrying Samuel in their hearts. His short life brought April and Jackson both immense pain but also transformational lessons about living meaningfully, embracing fleeting moments and the unconditional love of family.
April Kepner’s pregnancy story arc on Grey’s Anatomy highlighted the heartbreaking reality some parents face when serious complications emerge. Her second baby, Samuel, was diagnosed with Osteogenesis Imperfecta type 2 – a severe, fatal bone disorder causing endless fractures. Despite knowing Samuel would likely not survive birth, April and Jackson created cherished memories as a family during her pregnancy and his brief time on earth.
While devastating for the couple, Samuel’s brief life and OI diagnosis raised awareness of an obscure disorder and sparked deeper conversations on loss, hope and what matters most. His legacy carries on through the indelible imprint he left as a son, brother and gift who forever shaped April and Jackson as parents. Though gone too soon, Samuel gave them a lifetime of love in his short time on earth.