Genetic news

At her 3rd pediatrician check, the doctor suspected something was not right with Evelyn. Her poor developmental growth and deformities may have indicated a genetic issue. Her milk intake was still 2oz every 2 to 3 hours, we have introduced a supplementary to boost her appetite but it's just useless. There was still a slow weight growth.  

Evelyn and her mommy at 5 months old

Evelyn is floppy

We were referred to Sime Darby Medical Centre (SDMC) to see a geneticist - Dr Choy Yew Sing. That was when and how the diagnosis process started, 1) blue sclera (white part of eyes are blue); 2) foot deformities; 3) Rib cage deformities; 4) floppy; 5) poor muscles tone; 6) poor developmental growth; 7) fontanelle still open wide (the softpart bone on top of head)' 8) small legs.

Based on all the 8 signs above, Dr Choy suspected Evelyn might have one of these genetic disorders, 1) Marfan Syndrome; 2) Osteogenesis Imperfecta (OI); 3) Ehlers Danlos Syndrome (EDS); and few more diseases with less likelihood.

So a series of tests had ordered to the diagnosis, and the results are as follows:-

1) Skeleton (full body) xray - to check all the deformities

Result : healed of the 11th right rib, means Evelyn had rib fracture in the womb before she was born

2) Eye test - to check if the lens are in the right location and the blue sclera

Result : Normal except for blue sclera

3) Hearing test - to check if her hearing is impaired

Result : Normal

4) Blood - to check if she has chromosome abnormalities

Result : Normal

5) Ultrasound on kidney - to check if her kidney is abnormal

Result : left side of kidney seemed to be swallon by 0.4cm

6) Enchocardiogram - to check if her heart is normal

Result :  her left ventricular was non compaction with preserved function (we wonder what this means)

That night,  I went home and google on those diseases. As I read through the details on how those diseases affected one's life, I felt devastated. It is impossible for a new parents to accept the fact that their lovely newborn has genetic disease, or a disabled child. We were in denial, we did not believe that this will happen to Evelyn. It must be just a suspect from those doctors.

We see nothing wrong with her, she was still actively kicking her legs, smile like a happy baby.

Her small legs and right foot deformity

Love her worm toy

"Tragedy should be utilized as a source of strength. No matter what sort of difficulties, how painful experience is, if we lose our hope, that's our real disaster." - Dalai Lama XIV

Evelyn weighed at 6 months old : 4.51kg, 59cm