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

2 - 4 months

2 months old

I have started to google for all her deformities, but didn’t know what those signs tell. Since there was nothing much we could do to fix her deformities, we thought we will leave them aside and concentrate on raising her. While keeping the 1) torticollis massage therapy; 2) right foot message; 3) double diapers daily, we have also kept the prayers and hope for the best to happen. We went to Tropicana Medical Centre (TMC) for her monthly pediatrician check and vacinnation because that is the nearest hospital.

Guess what? Evelyn had gain 1.22kg since birth,  at 3.32kg, 53cm. :)

 

Evelyn enjoyed her colourful toys :) She was bending her right leg because she cant open it wide apart due to her right hip dislocation.

3 months old

We were referred to another opinion who is also known as a specialist in pediatric orthopaedic - Dr Robert Panafold (Damansara Specialist - KPJ). Dr Robert asked not to worry about her right foot deformity, because Evelyn's right foot seemed to have normal shape, all her bones are in order and functioning well, and looks like a normal foot. The most worried should have been on her hip. So an ultrasound was ordered for Evelyn's right hip. Good news! It was confirmed that her hip was well located :)

We have been playing "Your baby can read" DVD and rythmes & songs since her 1st month. She loves them very much.  Look at her, she started to have a chubby face! She always smile and happy! She has started to babble when talk to :) am happy that she has grown up so much. I know there is a long way to go, and there are still alot to deal ahead for all her deformities, but we just want to focus on things we could do to raise her each day.

smile with tougue out :)

Look at her! She is kicking :)

4 months old

As she grow, we have noticed her uneven rib cage, her right back seemed to be uneven with a hump and abit mishappened, but we didn’t know what that was. Praying is the best thing we could do. We just have to keep a positive mind that everything will be alright.  Evelyn seemed to be very floppy like a newborn still, She has had a very poor muscles tone, her skin was soft.  She cant do rollover from her tummy to her back still. The worry have back again in our mind.

Those clicky sounds from her joints is getting more obvious. We have to handle her very gently to avoid joint dislocation. Her body is growing, but her legs were very small. I hope they are similar baby so I can refer to and know what is the underlying causes.

Apart from those deformities, her weight gain was extremely poor, she was far apart from the 3rd percentile growth chart. She had no head control at 4 months old.

Her legs are smaller in proportion to her head

Quote : "I believe God is managing affairs and that He doesnt need any advice from me. With God in charge, I believe everything will work out the best in the end. So what is there to worry about." - Henry Ford

 

Evelyn weighed at 4 months old : 4kg, 57cm

First month

On 23 May 2011, 37th weeks, Evelyn was born with an emergency C-section (due to my extreme high blood pressure-rated 170/90 and her breech condition), weighed 2.1kg, 46cm.

On her 1st day of life, the pediatrician told us her loads of deformities, ie: she was born with right torticollis (head cant turn to right due to tighten muscle on neck), right foot deformity (right seemed to be turning outward), right hip dislocation, mild bowing of both upper femurs (seen from x-ray), very loosen joints on both knees, leg length discrepancies (right was measured slightly shorter), uneven rib cage (right seemed to be misshapped with a hump on her right back). We were shock of the bad news because we have been expecting a perfect & healthy baby. During my entire pregnancy, our O&G doctor had never told us any abnormality. It was very overwhelming to learn that my 9 months pregnancy turned up abnormal.

Despite her loads of birth defects, her respiratory was still functioning well. So she did not require to stay in ICU. However she had jaundice on Day 2 so they put her on the jaundice nursery care until the Day 4.

So Evelyn came home on Day 4, she was very small and tiny as we expected. She did not cry much like a normal baby. Her appetite was extremely poor, she hardly latch on so I pumpep out my milk in a bottle. He took 2oz every 2 hours.

We can hear her clicky joints whenever she move her legs and hands. But we didn’t know what's happening. She cant move her right leg because of the hip dislocation. We were told to apply double diapers for her to help her both hips open wider so the socket of her right hip can be locked naturally. The physiotherapist from the hospital she was born have taught us the way to message her torticollis, which was to pull her head upwards, then to the left, then bend to the right. We have repeated this every morning & night.

On her 2nd weeks of life, we were referred to see Professor Sengupta from UM Specialist Centre (UMSC). We have told that nothing can be done at that point of time but to massage her foot deformity daily from home.

Her loosen joints especially on her knees really worried us, we have never seen such a baby before. All we have in our mind was to get more specialist advice.

So on her 3rd week of life, we were referred again to the second opinion at Tropicana Medical (TMC) to see Dr Nawar who is known as orthopaedic specialised in children. Dr Nawar applied serial casting on Evelyn's knees hoping her loosen knee joints can be straighten. A week later, Dr Nawar said Evelyn has loosen liagament that caused to her loosen joints, not only her knees, but her whole body joints. She was born with it. Serial casting may not be the cure, he advised us to wait her grow and see.

We went home and pray hard for a miracle.

Quote : "Miracles start to happen when you give as much engergy to your dream s as you do to your fears."

Evelyn weighed at 1st month: 2.89kg, 50cm

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.