Osteogenesis Imperfecta Awareness

Hi everyone, Today’s post is the awareness of Osteogenesis Imperfecta OI for short but is also known by the term Brittle Bone Disease.

My Story

OI is very close to my heart as my eldest daughter was born with this condition. She had her first break at ten months old, I was quite naïve as I didn’t know that much about it. I was alone and isolated and very vulnerable as the person I would go to was on holiday at the time.

When I took her to the hospital and found out her leg was broken it was the worst thing in the world. It wasn’t a normal straight forward break, they told me it was a spiral break and for her to get that kind of break someone must of done this to her, so I was investigated and made to feel as if I was guilty, as if I had hurt my precious baby. Every time my daughter saw me her face would light up and she always wanted me to pick her up and give her a cuddle, but they still wanted her to stay the night in hospital while these enquiries were going on.

When my aunt found out what I was being accused of, she was not happy and contacted the hospital having a go at them for even thinking I could harm her. I know that there are some monsters out there that would, which literally breaks my heart, but I wouldn’t dream of hurting her, she as been my whole world since the day she was born. I was devastated and traumatised by what had happened that day, which made it a very long and exhausting night.

The next day they did some routine tests and found, that she had a blue tinge to the whites of her eyes, so they said that it could be a sign of Osteogenesis Imperfecta, but she needs to have some other tests to determine whether she had it or not, once they had done all the relevant tests, I was then told that she had Osteogenesis Imperfecta and the next step  for her is to be seen by a geneticist, and from now on it will be on her records, so you will never have to go through all this each time she has a break. This is our story of how my daughter eventually got her diagnosis.

What is Osteogenesis Imperfecta?

Osteogenesis Imperfecta (OI) is a genetic disorder that affects the bones. This condition causes the bones to be weaker and more fragile. The bones can break with little or no trauma. OI is typically present at birth, and children only develop it if there is a family history of it. OI ranges in severity from mild to severe. Most cases are mild, resulting in very little bone fractures. However, the severe forms can cause:

  • Hearing loss.
  • Heart failure
  • Permanent deformities
  • Spinal cord problems

What Causes Osteogenesis Imperfecta?

Osteogenesis Imperfecta is caused by a defect, or flaw, which is in the gene that produces type 1 collagen, its a protein which is used to create bone. The defective gene is usually inherited, but in some cases, a genetic mutation or change can cause it.

What Are The Signs and Symptoms of OI?

Here are some signs and symptoms of having OI.

  • Fractures can happen with the slightest of force, and varies from person to person.
  • The whites of their eyes may appear to be blue or grey.
  • Bones might have an altered shape, for instance, they may be shortened or bowed.
  • Children with OI tend to be shorter than the average child.
  • Some degree of joint or bone pain that may be present.
  • In children it can cause them to tire more easily.
  • Joints can be very flexible or hypermobile.
  • Hearing problems usually begin to affect people after puberty.
  • Problems with formation of teeth (Dentinogenesis Imperfecta, DI for short).

Facts About OI

Eleven facts about OI to increase your Awareness!

  • OI is a connective tissue disorder that affects between 20,000 and 50,000 Americans. While in the UK there is around 5,000 individuals that suffer with it.
  • The most significant symptom of OI is fragile bones. For this reason, OI is sometimes referred to as a ‘brittle bones disease.’
  • OI is not contagious. It is a genetic disorder that can be inherited or the result of a spontaneous mutation.
  • The medical community currently recognizes 8 different types of OI that range from nearly undetectable to fatal.
  • Lack of proper diagnosis sometimes causes parents to be unjustly accused of child abuse.
  • Although there is no cure for OI, a person with this diagnosis can live a healthy, happy, and active lifestyle. Good nutrition and exercise are useful tools in managing the symptoms of OI.
  • Atticus Shaffer, from the hit TV show The Middle, has type one OI
  • Some people with OI and their families like to use a snowflake to symbolize how each person with OI is different and fragile. Yet, others with OI despise the notion of being compared to a delicate snowflake.
  • As we learn more about OI, it becomes more apparent that this condition manifests differently in every person who has it. Perhaps this is the most important reason to spread awareness.
  • The disease is often referred to as Osteogenesis Imperfecta (OI), which means “imperfectly formed bone.”
  • There are eight different types of OI. Type 1 being the most mild case and Type 2 being a severe case.

Thank you for taking the time to read this post. See you all next week!

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