When Nicole Croxton and Pete Nappi first learned that they were going to have another daughter, the pair were thrilled. But during the course of Nicole’s pregnancy, doctors filled her in on some potentially concerning news. Their daughter, who the pair named Natarlia, had fractured her femur in the womb during Nicole’s first or second trimester. As Nicole and Pete went back for additional scans throughout the course of the pregnancy, each scan showed additional fractures and bone curvatures. When Natarlia was born – three weeks premature and weighing just 3 pounds, significantly smaller than she should have been – her parents were told that Natarlia had a rare condition called osteogenesis imperfecta (OI). 

According to The Argus, Natarlia was born on May 16, 2022. At birth, she had a number of different fractures throughout her body and has since also fractured her wrist. Her parents need to be extra gentle with her to avoid any further fractures, with Pete stating that:

“It’s the simple things that are so risky for her.”

Currently, Nicole and Pete are raising funds to build a soft sensory and play room for their daughter. Their goal is to provide a space where Natarlia will be able to play, learn, and grow while minimizing the risk of any harm. The family hopes to raise £25,000 (approx. $29,727) for the play room. If you would like to contribute, you may donate on the family’s GoFundMe. 

Osteogenesis Imperfecta (OI): An Overview

So what is osteogenesis imperfecta (OI)? Osteogenesis imperfecta refers to a group of rare genetic disorders which affect connective tissues and cause bones which easily fracture or break, often with little or no cause. Colloquially known as “brittle bone disease,” OI can be divided into four subtypes: Type I, II, III, and IV. COLA1A1 and COL1A2 gene mutations have been implicated in OI; types I, II, and IV are inherited in an autosomal dominant pattern, while type II is inherited in an autosomal recessive pattern. In rarer cases, the gene mutations may occur spontaneously. 

Symptoms and Characteristics

Symptoms and characteristics vary based on subtype. For example, type I is considered to be the most common and mild form of OI. Those with this form may experience:

• Multiple bone fractures
• Bluish discoloration of the sclera
• Hearing impairment
• Short stature
• Hypotonia (low muscle tone)
• Loose joints
• Scoliosis

Alternately, osteogenesis imperfecta type II is considered to be the most severe form. Symptoms and characteristics can include:

• Underdeveloped lungs causing severe breathing problems
• Bone malformations
• Life-threatening birth complications, including numerous fractures
• Fragile skin 
• Low birth weight
• Abnormally short legs and arms
• Blue sclera
• Large fontanelle
• Congestive heart failure 

Next, those with OI type III may experience:

• Malformed bones
• Multiple fractures 
• Spinal deformities, such as scoliosis
• A small jaw
• Blue sclera which fades within the first year of life

Finally, symptoms and characteristics associated with OI type IV can include: 

• Short stature
• Fragile bones and multiple fractures
• Scoliosis 
• Hearing impairment
• Triangular facial shape