Evelyn has Osteogenesis Imperfecta (OI)

Evelyn has Osteogenesis Imperfecta (OI)

Saturday 27 April 2013

More on genetic and pnuemonia

Her uneven rib cage had getting more obvious, the right side of her back seemed to have a bump. We thought that might be because of her right rib fracture. We didn’t know when that happened and why the pregnancy ultrasound could not tell at all. That brought us to another queries. Did she in pain in the womb when the rib fracture happened? What caused to the fracture? Did the fracture caused to her poor weight growth in the womb?


Evelyn at 6 months old, her white part of eyes are blue


The internet research on Osteogenesis Imperfecta said people with OI will have a barrel (wide and vertical look) rib cage. Others research said the uneven rib may have indicated scoliosis (spine curve), means the congenital scoliosis (born with it). The xray done at 5 months old showed a straight spine, so that is one good news at least.

Apart from her rib and back issues, her skeleton (full body) xray also showed a bowing femurs (thigh) on both legs. These are really strange signs. She didn’t cry so we assume she was not in any pain.

Bowing of upper femurs

At her 6 months old, Evelyn admitted for pnuemonia (lung infection), she has had a very bad flu and cough. She vomited whenever she cough. During her stay in the hospital, she received a nebuliser and phlegm suction 6 times daily.


Evelyn at 6 months old, still no nect and head control

The geneticist appointment with UMMC under Prof Thong started at her 9 months old. Evelyn had been accessed all over again for OI diagnosis. A set of tests on top of the previous tests had been ordered, such as 1) DEXA to check her bone mineral density, BMD -0.145m -- this meant her bone density was extremely low and fragile. The bone will get fracture easily. 2) Neurology to check if your neoro is functioning well - normal.

At her 10 months old, Evelyn received her first physical therapy (PT) from UMMC. PT meant for those developmental delay child to learn and achieve physical movement or to maximise mobility. The appointment was set to be once a month. Her PT taught us the skill in helping her to gain head and neck control so we can did it from home. We bought an exercise ball for her to lie on it so she can have her head up, by doing this, she gain neck control.



Evelyn at 7 months old with grandma

Here are her developmental milestones record :-
5 months old - Rollover sideway (not from tummy)
8 months old - Rollover all way (tummy to back, back to tummy)
11 months old - Head & neck control, trunk control


She is happy



"Although the world is full of suffering, it is full also of the overcoming of it"  - Helen Keller



Evelyn weighed at 10 months old : 4.8kg, 60cm