Osteogenesis Imperfecta (Brittle Bone Disease): OI Warrior Shares Her Struggle With The Condition

Osteogenesis imperfecta (OI) is a rare genetic disorder, affecting 1 in 10,000 individuals. Parita Dholakia, an OI warrior, shares some of major challenges faced by OI patients like her.

I was thrilled when the movie "Unbreakable" was released in 2000, since one of the protagonists had Osteogenesis Imperfecta (OI), also known as brittle bone disease. Thanks to M Night Shyamalan, I could now just tell people to watch the movie to understand a bit more about my condition (not considering that in the movie OI was not thoroughly researched and not everything about OI patients was true).

Osteogenesis imperfecta (OI) is a genetic disorder, mostly characterized by bones that break easily, fragile bones, often from little or no apparent cause. And since it is a rare condition affecting 1 in 10,000 individuals it is difficult to find people who know about "brittle bones" or find a fellow patient.

At the age of 3, I had my first fracture. Since there I must have broken my bones over a dozen times, underwent multiple rodding and plating surgeries, and continue to have a poor dental structure. I am an OI warrior who is now also suffering from hearing loss.

While OI is a genetic condition, in some cases it also occurs sporadically. Today, genetic evaluation is possible to ascertain OI. In general, the doctor uses your medical and family history, physical exam, and imaging and lab tests to diagnose it. Let's try to understand the challenges faced by these patients.

Challenges faced by children/adults with osteogenesis imperfecta

One of the biggest challenges of osteogenesis imperfecta remains that there is no known treatment to cure it completely. Since there is no effective treatment for complete cure, patients keep facing several challenges throughout life. Further, OI manifests in various forms. What may be a blue sclera and a short body frame, may add on as multiple fractures, bone deformities, weak teeth structure, and immobility. In certain cases, hearing loss can occur at any age. In my case, I started losing my hearing progressively from the age of 19, with no treatment possibility.

Children and adults alike face the challenges mentioned here and tremendous awareness and advocacy at the ground level is required to ensure that these factors can be resolved.

• Lack of Awareness
  • For certain chronic conditions such as OI, there is still a lack of awareness and understanding of the condition among the general public, be it parents, teachers, or medical professionals. A delayed diagnosis and inappropriate approach to manage the condition are the two most common challenges due to this lack of awareness.
• Stigma/Discrimination
  • For children and adults suffering from OI, stigma due to discrimination is a big challenge. Due to their fragile bones, they are not able to participate in all social activities, and this may lead to exclusion in day-to-day life. Imagine being a child and not being able to go to school, make friends, get dirty on the playground, and keeping away from crowds because a small push can crack your bone!
  • For adults with impaired mobility or fragile bones, it is difficult to care for self and it can lead to being very conscious and leads to a preference to stay away from the public.
  • Focus on the mental well being of such patients is also required the amount of pain with each fracture, physical and emotional, and the unending cycle of fractures and hospitals in certain cases can take a mental toll.
• Lack of trained professionals
  • There are several cases where medical professionals have been unable to detect or identify OI cases. This leads to improper or no prevention and the patient and their families suffer the most due to the unknown situation.
• Financial burden
  • OI is not only taxing physically and mentally, but also leads to a great financial burden. Given the multiple fractures and certain associated conditions (such as weak dental structure, deformities in bones, hearing loss, curved spine, bowed hands and legs), hospital visits are commonplace. Various diagnostic tests are to be run and the patient is constantly on medications + injections.
  • Certain health insurance policies do cover OPD visits and diagnostic tests, but overall, it is a financial burden that many families in India cannot afford.

Thus, there is a need for increased awareness, understanding, and support for OI individuals and their families.

Wishbone Day

On May 6^th every year, International Day of Osteogenesis Imperfecta is celebrated as the Wishbone Day. Wishbone Day is the voice of those who have OI, speaking in their own unique way about OI and the issues that are most important to them. Wishbone Day raises awareness of both the contributions people with OI make and the difficulties they face.

The prognosis for a person with OI varies greatly depending on the number and severity of symptoms but for each patient finding kinship and community is a great benefit. We do have International and National OI Foundations that help people come together and learn more about the condition and how to manage day-to-day lives.

Several communities are also available online that help one share their story or find a helping hand from someone who has been through something similar.

The writer is Parita Dholakia, an OI warrior and a health Communicator.