Evelyn has Osteogenesis Imperfecta (OI)

Evelyn has Osteogenesis Imperfecta (OI)

Monday 18 March 2013

Osteogenesis Imperfecta (OI)

Evelyn was born with a rare genetic disease called "Osteogenesis Imperfecta" (OI) or Brittle Bone Disease. This disease run in family or a spontaneous mutation on the "collagen" genes.

Collagen is a protein that generated naturally by human body which required for building bones and muscles. Collagen deficiency or deletion will cause to fragile bones and weak muscles, joints laxity, loosen liagaments, bowing bones, blue sclera (the white part of eyes are blue), brittle teeths, scoliosis (spine curve), bones can  fracture easily, growth impairments.

The overall frequency of OI in the general population is about 1 in 20,000. Our geneticist believes that Evelyn ones is a spontaneneous mutation because none of both families has any of those symptons.

OI has no cure, but a lifelong treatment such as physical therapy (PT) and a drug treatment called "pamidronate" (PAM) to strengthen bones. The physical therapy help to maximise mobility. Evelyn required monthly pamidronate from the UMMC. She is also having twice a month PT there. The hospital appointment are very busy as no one can imagine. The appointment could be  5 times a month, or even more.

Find out more at http://www.oif.org
The growth of OI child is very much delay compared to a normal child. Her developmental growth such as gross motor skills are very delay, a normal child can sit on her own at the age of 7 months old, but OI child maybe at 12 months old; a normal child can stand at 10 months old, but OI child maybe 2 or 3 years old; a normal child can walk at 14 months old, but OI child maybe at 4 or 5 years old. However it is very much depends on the severity. There are 8 types of OI, from Type I to Type VII, Evelyn is categorised under the severe type as she has scoliosis (spine curve) and extremely small limbs (hands and legs). Her head is bigger in proportion to her body. She maybe Type III or Type IV, this can only be confirmed if the DNA test is done. No matter what type and how severe she is, we would love her unconditionally.

We are blessed that her intelligent is super compared to a normal child. She is very clever and smart than we have expected.

She is our special child, we believe god chose us to be her parents for a special love and special care.

This is a story about her with her OI journey.

1 comment:

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