Fans of Jodi Picoult may recall her 2009 novel, “Handle With Care,” which shot to the top of the Times bestseller list. The novel chronicled the tangled ethics around Willow, a girl with osteogensis imperfecta (OI), also known as brittle bone disease. Occurring in around one in 20,000 births, this condition is characterized by a shortage of collagen, an important connective tissue in the body. Patients with OI, which comes in a number of forms that vary in severity, are prone to broken and dislocated bones as well as bruising and scarring.
Living with OI can be frustrating; an activity as ordinary as shaking hands can result in a fracture. Most people are diagnosed in childhood as they experience frequent injuries more severe than those identified in other children, or because their parents have a family history of OI. Thanks to both physical markers and genetic testing, it’s possible to determine that a child has OI and to find out more about which form the child has through followup testing.
Unfortunately, the signs of OI closely mimic those of child abuse, and consequently, it’s not uncommon to see kids with OI taken from their families as a result of interventions by clinicians and mandated reporters like police officers and teachers. Any adult who sees a child with severe bruising, repeatedly broken limbs and other signs of serious injuries would understandably be concerned, but in this case, the consequences of reporting the situation to child services can be tragic. Rather than getting a child out of an unsafe situation, the report may result in separating a terrified child from her family.
Furthermore, the underlying medical problem may remain undiagnosed for a longer period of time.
OI campaigners want to change that with education for mandated reporters to help them learn how to discern the key differences between osteogenesis imperfecta and child abuse, and the perfect opportunity for that is OI Awareness Week, running this year between May 4th and 11th. While people are talking about OI and the lives of patients, it seems like a good idea to take action to improve the lives of patients, but thus far, organizations participating in OI Awareness seem stuck on the idea of vague “public awareness” rather than concrete action.
The same problem can be seen in settings like breast cancer awareness — with most of the population aware of breast cancer at this point, the question is not how we can provide better outreach and education to teach people that breast cancer exists, but how we can help breast cancer patients. In the case of OI, many members of the public aren’t familiar with the condition and thus some public education is a fantastic idea, but so is an education plan to prevent false child abuse accusations, as Lisa Egan, a disability campaigner with OI, recently wrote at xoJane.
She points out that: “Wishbone Day has been happening for a few years now, but Iíve never heard of any events aimed at the professionals who really need the awareness drummed into them. Iíve even suggested training for doctors and social workers to people in positions to organize such training; but Iíve been brushed off because they perceive dressing in yellow for the day to be more important…Iíd even be willing to play guinea pig for a day to help these professionals learn what osteogenesis looks like.”
Her criticisms cut to the core of a serious problem: many awareness campaigns stop short of action and change. In the case of OI, there’s a perfect opportunity for expanding the scope of OI Awareness Week to do something important for OI patients and their families. In quick training courses, mandated reporters could learn how to tell the difference between OI and child abuse, which would allow them to screen children who appear to be at risk and determine whether they should be referred to a medical specialist or child services.
When you’re looking at a child with a history of injuries and you’re concerned about the possibility of abuse, how can you tell if it’s abuse or OI? There are several physical signs you can look for:
Blue sclera. Due to the collagen deficiency associated with this condition, many OI patients have blue or grayish sclera (the “whites” of the eyes).
Reduced height. Patients with OI tend to be shorter than others in their age group.
Yellow teeth. Rather than being the result of poor dental care, the yellow teeth seen in people with OI are also the result of collagen deficiencies.
Triangular face. A distinctively triangular face structure is another common feature.
Barrel chest. OI patients tend to have a barrel-chested appearance.
A combination of these traits with a significant break or dislocation and substantial bruising could mean a child has OI. Parents may not be aware the child has the condition, in which case a diagnosis could be critically important for getting the child the right treatment and followup.
Of course, children with this condition are not immune from child abuse, and sadly the very fact that they’re prone to injury can cover up the signs of child abuse, as injuries may be attributed to innocent accidents. It’s important to still be watchful for signs of child abuse (like burns), and one way to do that is to create a safe and comfortable environment for children so they feel safe asking for help if they need it.
Photo credit: Thomas Mueller