As a guide, low prevalence is taken as a prevalence of less than 1 per 4000 in the community.
What are Rare Disorders
DMD - Duchenne Muscular Dystrophy
IEM - Inborn Errors of Metabolism
MPS - Mucopolysaccharidoses
OI - Osteogenesis Imperfecta
PWS - Prader-Willi Syndrome
SMA - Spinal Muscular Atrophy
Disclaimer: Please note that Malaysian Rare Disorders Society does not assume any responsibility for the accuracy or usefulness of any information disclosed in the fact sheets.
Name: Pang Hui-Yin
D.O. B: Mar 25,2004
Disorder: Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome (EEC Syndrome)
B. Hui-Yin's Story
Before Hui-Yin was born, my husband and I had no inkling at all of what was to come. The gynecologist only mentioned that she would be a small baby. The delivery did not take very long, unlike my previous two children. Immediately after the delivery, the gynecologist told me that baby had some problems with her mouth and hand. Within an hour, the pediatrician came to me and said that he believes she has a condition called trisomy 13. He said trisomy babies generally do not live long. I can still remember his words that this baby may have "3 days, 3 weeks, 3 months"- he didn't know. He did say his preliminary diagnosis was subject to a blood test.
We were shocked. For the next few days we could only cry and grieve. We did not know whether she would live or die. And then, the blood test results came back. It was negative. She did not have trisomy 13. We were referred to a geneticist. He ordered another blood test. It came back negative too. He then diagnosed her condition as Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome or EEC Syndrome. As the long term prognosis for this syndrome was good, he advised us to proceed with her care and to repair her birth defects. Her immediate problems were a hole in the heart and a cleft lip and palate. She also has a shortened right hand that is missing 3 fingers.
The geneticist was very kind. During the appointment she was having a fever. As there was a bed available, the doctor immediately admitted her. After 3 weeks in the general ward, I was exhausted taking care of her. One night she vomited and did not stop crying. The doctor decided to transfer her to the intensive care unit. My heart sank.
In the ICU because of her heart condition, she was placed on a bi-pap machine to help her breathe. The doctor told me that this particular hospital was the only hospital in the Klang Valley or maybe West Malaysia to use that kind of machine on children (at that time). During Hui-Yin's stay in the ICU for 1 month, surprisingly she had no infection, no vomiting and no fever. She increased in weight and was ready for the heart operation in a shorter time than if I had her at home. At every turn, when I thought things were getting worse, instead it turned out for the better. She had a successful heart operation after that.
In the early hours of 31 August, I watched the fireworks going off at Taman Jaya from the hospital window. It was truly merdeka for me. Hui-Yin was discharged from hospital that day.
At home, I still needed to feed her by tube every 3 hours. The plastic surgeon said I had to get her used to feeding with a bottle. It would help in her food intake and speech later on. I experimented with all types of bottles bought from the pharmacy. Finally through the Cleft Lip and Palate Association of Malaysia, I was able to obtain a softplas bottle. She could suck when I squeezed the bottle and I could see how much she was drinking. It was still hard work as she could only take in 1 ounce of milk each feeding.
At 6 months old, I look back in amazement at her. She was breathing normally, she was not dependant on oxygen and there was no feeding tube sticking out from her nose. She was alert and responsive. I remembered my first glimmer of hope given by the geneticist. He said that these children may surprise you. In 2 years’ time, they come through your door and say “Hello, Doctor!”.
Hui-Yin underwent surgery to repair her cleft lip at 1 year old and her cleft palate at 2 years old. The delayed time for the surgeries was due to her low weight. After her cleft palate surgery, she was able to eat more and gained weight. She started walking. When she turned 3, she started talking. Maybe about 10 words but very precious. Although she did not say “Hello” to the doctor at 2 years of age but she could say those words eventually.
She is now 5 years old. She loves going to kindergarten. She can write ABC’s using her left hand and read her storybooks. She plays with her sister and bullies her elder brother. There’s still speech therapy and monthly dental appointments. The road behind us has been long and winding but the road ahead seems straighter. The sun is shining as we tread forward.
It’s my 7th birthday and Mummy baked the cake. I want my next birthday to be in KFC and I want an Angry Bird cake!
PS: Hui-Yin is now in Year 2 in a nearby Chinese school (2012). She find Maths and Chinese tough but she integrates well in school and is independent. She likes to play the piano and here is a short piece for you to enjoy. Click on the link below. So watch out Hee Ah Lee (the four fingered pianist from Korea), here comes Hui-Yin.
Read More Stories
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Here is the back cover description found on the book:
“Duchenne Muscular Dystrophy, ‘brittle bone’ disease, Achondroplasia, Ectodermal Dysplasia, Prader-Willi Syndrome. Strange sounding words but these are actually names of rare disorders affecting some of our fellow Malaysians. A rare disorder is a medical disorder that affects a small number of people and is caused by genetic or environmental factors or by unknown factors. About 3% to 5% of babies are born with serious birth defects. It is estimated that there are about 20,000 babies born each year with birth defects in Malaysia. Some of these babies have known rare disorders.
Rare Journeys of Love presents 10 extraordinary stories of Malaysian families living with rare disorders. These are heart-warming stories shared by parents of children diagnosed with rare disorders or by patients themselves. Journey with them as they describe how they face the daily challenges of living with rare disorders – with tears, fears and much love.
This book is a message of hope and encouragement for those facing similar challenges. This book serves to raise awareness of rare disorders and to sensitise all to the needs of fellow Malaysians affected by rare disorders.”