Malaysian Rare Disorders Society (MRDS) was formed in 2004, with the help and guidance of the Genetic Unit, Department of Paediatrics, University Malaya Medical Centre.
MRDS is a voluntary organisation set-up to represent and look out for the welfare of individuals including their families that are affected by rare disorders.
Rare disorders including those of genetic origin, are life threatening of chronically debilitating diseases which are of such low prevalence that special combined efforts are needed to address them.
Our target members are individuals affected by rare disorders, their families and any organisation that supports MRDS’objectives.
February 28, 2013 marks the sixth international Rare Disease Day coordinated by EURORDIS and organized with rare disease national alliances in 24 European countries. On and around this day hundreds of patient organizations from more than 60 countries and regions worldwide are planning awareness-raising activities converging around the slogan “Rare Disorders without Borders” Activities will [...]
The Asia Pacific Society of Human Genetics is organising the 10th Asia-Pacific Conference on Human Genetics 2012 on 5-8th December 2012 at Crowne Plaza Hotel, Kuala Lumpur. Topics to be covered including advances in genetic diagnostics and technology, advances in treatment of genetic diseases, and many more.
SHAH ALAM: Students of International Education College (Intec), UiTM Shah Alam, organized a charity run recently. It was the first time the students organized a charity run as part of their co-curricular activities. “The students have to organize projects that benefit the community as part of their co-curricular activities. It is an opportunity for them [...]
On 18th April 2009, Kiwanis USJ invited MRDS to participate in Kiwanis Malaysia’s Annual Children’s Party held in Sunway Lagoon. The event was sponsored by Sunway Lagoon Theme Park and the Sunway Resort Hotel & Spa. Due to the limited places, 5 families from MRDS were invited to participate. Among which, 9 children with rare [...]
Three events were carried out in conjunction with Rare Disease Day 2010 in Malaysia. 1. RARE DISEASE DAY EXHIBITION An exhibition was organized at Pusat Perubatan Universiti Malaya, Kuala Lumpur. It spanned a period of four days and provided information on the organisation, as well as details on Rare Disease Day and its significance. Reading [...]
Persatuan Penyakit Jarang Jumpa Malaysia (PPJJM) bersama dengan Persatuan Genetik Perubatan Malaysia (PGPM) telah menganjurkan Persidangan Penyakit Jarang Jarang Jumpa Kali Pertama dan Persidangan Perubatan Genetik 2011 yang berlangsung pada 9-10 Jun 2011 di Petaling Jaya. Persidangan ini unik kerana untuk kali pertama di Malaysia ia membawa keluarga-keluarga yang terjejas dengan penyakit jarang jumpa, para [...]
The Malaysian Rare Disorders Society (MRDS) together with the Kiwanis Club of USJ (Kiwanis) organized a visit to Zoo Negara on 26th June 2010. Eight families participated in the visit. It was a special day for the MRDS families as it was a rare opportunity for them to go out on a family outing. The [...]
Our President, Dato Hatijah Ayob represented MRDS at the 2nd Educational Forum For Families and Caregivers on Mucopolysaccharidoses (MPS) on 11-13 Oct 2009. This event was organised by Taiwan MPS Society. For more information on MPS Taiwan, you can visit their website www.mpssociety.org.tw
Rare disorders including those of genetic origin, are life threatening or chronically debilitating diseases which are of such low prevalence that special combined efforts are needed to address them.
As a guide, low prevalence is taken as a prevalence of less than 1 per 4000 in the community.
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.
A. Profile
Name : Aminisha Jasmin binti Mohd Remei
DOB : 17 May 2004
Disorder : Congenital Disorder of Glycosilation (CDG) Type 1b
B. About the Disorder
General
Key Features
Physiological features
Key Challenges
Key Medical Treatment
Management of symptoms only
C. Personal History
Initial Discovery
Family Initial Reaction
Current Activities to Manage Medical Challenge
Lessons Learned for Sharing
Moving Forward
A. Profile
Name: Amir Hamzah bin Fadhil Hassan Ismail Yassin
D.O. B: Sept 24,1999
Disorder: Achondroplasia ; also known as Dwarfism
B. About the Disorder
General
Key Features [2]
Key Challenges
Key Medical Conditions to watch for
Key Medical Treatment may include
C. Personal History
A. Profile
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.
Malaysian Rare Disorders Society is pleased to announce the publication of their first book entitled “Rare Journeys of Love”. The book presents 10 true stories of Malaysians living with rare disorders. The book will be available for sale in March 2011.
If you are interested in purchasing this book, please e-mail to us at info@mrds.org.my or call us at 019-7714543. The book can also be posted to you.
Please give us your name, address, contact number, e-mail address (if any) and payment of RM25 (RM20 book + RM5 postage within Malaysia) by cheque or postal order made out to ‘Persatuan Penyakit Jarang Jumpa Malaysia’ and mail it to 16, Lorong 5/10D, 46000 Petaling Jaya, Selangor. If you want the book to be posted to you outside Malaysia, please e-mail to us for the postal charges. The book weights about 230g.
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.”
February 28, 2013 marks the sixth international Rare Disease Day coordinated by EURORDIS and organized with rare disease national alliances in 24 European countries.
On and around this day hundreds of patient organizations from more than 60 countries and regions worldwide are planning awareness-raising activities converging around the slogan “Rare Disorders without Borders”
Activities will take place across Europe, all the way to Russia, continuing to China and Japan, in the US and Canada, and as far as Australia and New Zealand!
Rare Disease Day is open to everyone! Individuals, patients, patient organisations, health professionals, researchers, drug developers, public health authorities – the more, the better!
As you’ll find out, there’s more than one way of getting involved. Let’s join our efforts to give hope to rare disease patients all over the world!
Watch Yann Le Cam, Chief Executive Officer, EURORDIS give a message about Rare Disease Day 2013.
Visit the Rare Disease Day website to get involved: http://www.rarediseaseday.org
Share the official 2013 Rare Disease Day video: http://youtu.be/n6HReXaUUSw
The Asia Pacific Society of Human Genetics is organising the 10th Asia-Pacific Conference on Human Genetics 2012 on:
Date: 5-8th December 2012
Venue: Crowne Plaza Hotel, Kuala Lumpur.
Topics to be covered are:
- advances in genetic diagnostics and technology
- advances in treatment of genetic diseases
- genetics education and counselling
- preventative strategies for birth defects
- bioethics
- inborn errors of metabolism
Although this Conference is targeted toward medical & allied health professionals, you can still attend if you are interested in any of the lectures.
For more info and details of the fees, please visit:
www.apchg2012.org
SHAH ALAM: Students of International Education College (Intec), UiTM Shah Alam, organized a charity run recently. It was the first time the students organized a charity run as part of their co-curricular activities.
“The students have to organize projects that benefit the community as part of their co-curricular activities. It is an opportunity for them to work together and to view society around them apart from their books,” said Vincent David, an Intec lecturer and co-curricular advisor to the students.
About 400 students participated in the run which was held on 15 October 2011. The 2.7 km run was held at the college grounds. It started at 8am and had both men’s and women’s categories. The top 10 winners were awarded medals and hampers. Completion medals were given for the top 30 runners. There was also a lucky draw. The organizing committee for the charity run was able to get sponsorship for drinks and prizes.
The proceeds of the charity run amounting to RM2,700 went to the Malaysian Rare Disorders Society (MRDS). MRDS was invited to give a speech to the students about activities of the society. MRDS also had a booth to display materials about rare disorders.
On 18th April 2009, Kiwanis USJ invited MRDS to participate in Kiwanis Malaysia’s Annual Children’s Party held in Sunway Lagoon. The event was sponsored by Sunway Lagoon Theme Park and the Sunway Resort Hotel & Spa. Due to the limited places, 5 families from MRDS were invited to participate. Among which, 9 children with rare disorders, 3 siblings and 6 caregivers attended this fun-filled event together with 455 other children from 21 homes and NGO’s in Malaysia. The children were allowed to go on all the rides in Sunway Lagoon and they were given a treat of buffet lunch together with party packs. The event lasted the whole day from 9am till 4pm in the evening. The MRDS members had lots of fun and excitement thanks to Kiwanis USJ members that helped oversee the needs of our children. For more information on this event, please log on to, http://www.kiwanis.org.my/article.cfm?ID=248.
Kiwanis USJ is one of the 50 Kiwanis clubs in Malaysia. Since 2007, Kiwanis USJ has adopted MRDS as their community club and has helped MRDS raised funds through the ‘Lend A Hand’ Project. Apart from that, the Kiwanis USJ members have also volunteered their efforts during some of the MRDS events. Kiwanis USJ has given us their continuous support in various means and will continue to support MRDS in achieving our objectives especially in creating awareness on rare disorders in Malaysia. For more information on Kiwanis Malaysia, please log on to www.kiwanis.org.my
Three events were carried out in conjunction with Rare Disease Day 2010 in Malaysia.
1. RARE DISEASE DAY EXHIBITION
An exhibition was organized at Pusat Perubatan Universiti Malaya, Kuala Lumpur. It spanned a period of four days and provided information on the organisation, as well as details on Rare Disease Day and its significance. Reading materials on various types of rare diseases and also general information on what are rare diseases were available. Posters on what the organisation is about and the activities they do were put up for viewing. It attracted a significant number of visitors, most of whom had either never heard of the term before or knew someone who exhibited certain symptoms but have not been given a diagnosis.
2. PRESS CONFERENCE
The press conference was held to create awareness among the public on the existence of these disorders in the society and to hopefully stir them to play a part in providing support in one way or another to patients and families of interest. It is also hoped that the government’s attention and commitment towards this cause would be increased as public awareness elevates. Speakers at the press conference included the MRDS President, Dato’ Hatijah Ayob and the consultant paediatrician cum head of University of Malaya Medical Centre genetics unit, Prof M. K. Thong.
Among the issues that were highlighted during the press conference are:
• Lack of accessibility to drugs and when they are available, the high cost involved in obtaining them
• The setting up of a foundation to help fund medications, testing and research
• The lack of medical professionals specialising in rare diseases such as clinical geneticists and genetic counsellors
• The absence of a comprehensive registry on rare disease patients
Also announced at the press conference was the Jelajah Jarang Jumpa (JJJ) Cyclethon – Jelajah Harapan event to be held in September 2010. This event is organised to raise funds for the foundation. MRDS has agreed to enlist a team of four amateur cyclists with really big hearts, who offered to cycle the length of peninsula Malaysia and raise funds through corporate and personal appeals, and at the same time to create awareness on rare diseases. The proceeds raised from the JJJ Cyclethon challenge, which will span a period of 13 days covering more than a thousand kilometres, will entirely be channelled to the foundation.
The press conference was aired by the Bernama radio station, televised by TV3 and TV9 during their primetime news and was also reported in The Star and Metro newspapers. The exposure given by the media for this event is certainly a good starting point towards promoting this cause and has helped to set the groundwork for more intense efforts to be undertaken in the future.
3. RARE DISEASE DAY GATHERING
A social gathering for people with rare diseases and their family members was held on 28th February at the residence of MRDS President, Dato’ Hatijah Ayob. It provided an avenue for members to meet and share their stories with each other as well as for MRDS to reach out to new members and explain to them the role of the society. The evening also turned out to be fun for the children as they were kept busy with sand art and balloons.
Persatuan Penyakit Jarang Jumpa Malaysia (PPJJM) bersama dengan Persatuan Genetik Perubatan Malaysia (PGPM) telah menganjurkan Persidangan Penyakit Jarang Jarang Jumpa Kali Pertama dan Persidangan Perubatan Genetik 2011 yang berlangsung pada 9-10 Jun 2011 di Petaling Jaya.
Persidangan ini unik kerana untuk kali pertama di Malaysia ia membawa keluarga-keluarga yang terjejas dengan penyakit jarang jumpa, para profesional perubatan dan ahli perkhidmatan sokongan perubatan di bawah satu bumbung untuk berbincang tentang perkara-perkara berkenaan penyakit jarang jumpa. Lain-lain peserta dalam Persidangan ini termasuk wakil dari Kementerian kerajaan yang berkenaan, wakil-wakil dari badan bukan kerajaan, pelajar-pelajar perubatan dan wakil-wakil dari pertubuhan penyakit jarang jumpa antarabangsa. Lebih 170 orang peserta telah menyertai Persidangan ini.
Majlis pembukaan Persidangan ini telah diserikan dengan persembahan muzik yang menarik daripada dua remaja pesakit penyakit jarang jumpa iaitu adik Amir Hamzah yang mempunyai penyakit ‘achondroplasia’ (kerdil) dan Encik William Chen yang mempunyai sindrom Williams. Penceramah-penceramah yang telah menarik perhatian peserta pada hari pertama Persidangan adalah Yvonne Foong dan Dato’ Sri Dr Sim Ooi Hong. Yvonne Foong, seorang pesakit penyakit ’neurofibromatosis’, telah memberi perspektifnya tentang rawatan yang telah diterimanya dan pentingnya bagi para profesional perubatan untuk mempunyai sikap penyayang terhadap pesakit.
Dato’ Sri Dr Sim Ooi Hong, seorang pesakit tulang rapuh dan juga seorang peguam telah memberi ulasan tentang Akta Orang Kurang Upaya termasuk kekurangannya. Dia menyatakan bahawa Akta OKU seharusnya menguatkuasakan tanggungjawab sosial masyarakat terhadap orang kurang upaya.
Puan Serena Wu, penceramah jemputan dari Taiwan Foundation for Rare Disorders (TFRD) telah menceritakan bagaimana dengan kerjasama jabatan kesihatan Taiwan, media massa dan ahli-ahli parlimen dan dengan lobi TFRD, ‘Rare Disease Prevention and Orphan Drug Act’ diluluskan sebagai undang-undang di Taiwan pada tahun 2000. Akta ini membolehkan pesakit penyakit jarang jumpa menerima bantuan kewangan bagi ubatan dan rawatan dan bagi ujian genetik. Proses pendaftaran ubatan bagi penyakit jarang jumpa (orphan drugs) juga dipercepatkan dan dilicinkan.
Akta ini juga memberi galakan kepada pihak berkuasa untuk mengambil langkah pencegahan penyakit jarang jumpa seperti ‘newborn screening’, pemeriksaan prenatal dan R&D. Para peserta juga berkesempatan mendengar ceramah dari pihak swasta mengenai perkhidmatan ujian genetik terkini di Malaysia.
Di antara penceramah pada hari kedua ialah wakil dari Kementerian Pendidikan, Encik Bong Muk Shin yang berceramah tentang pelan pendidikan individu bagi kanak-kanak OKU. Ramai ibubapa telah mengambil peluang untuk mengemukakan soalan tentang pendidikan anak mereka.
Dua forum telah diadakan dengan tajuk Kaunseling Genetik dan Cabaran Disabiliti dimana ahli panel dari berbagai badan dan kementerian telah memberi pendapat dan cadangan mereka. Dalam forum Cabaran Disabiliti, satu daripada perkara yang dibincangkan adalah peluang pekerjaan bagi golongan OKU dan bagaimana untuk membantu mereka memperoleh kemahiran serta modal untuk memulakan perniagaan kecil.
Pada masa yang sama, PPJJM dan PGPM telah mengadakan 2 pameran poster. Pameran poster PPJJM adalah mengenai pengenalan kepada penyakit jarang jumpa dan aktiviti PPJJM manakala pameran poster
PGPM merupakan ringkasan kertas penyelidikan genetik dalam format poster. Hadiah-hadiah telah diberi untuk 3 poster terbaik.
Gerai PPJJM telah didirikan di luar dewan dengan tujuan untuk menjual buku terbitan PPJJM, mengedar risalah tentang penyakit jarang jumpa dan mendapat ahli-ahli baru.
Pada akhir Persidangan, cadangan-cadangan yang dikemukakan semasa Persidangan telah dipersembahkan secara ringkas kepada peserta-peserta.
The Malaysian Rare Disorders Society (MRDS) together with the Kiwanis Club of USJ (Kiwanis) organized a visit to Zoo Negara on 26th June 2010. Eight families participated in the visit. It was a special day for the MRDS families as it was a rare opportunity for them to go out on a family outing.
The families started with a stroll around the zoo. The children were excited to see giraffes, elephants, monkeys and all sorts of animals up close. The group then proceeded to the animal show where the children enjoyed watching a parrot, a kite, a seal and a sea-lion performing tricks.
Later, the families were treated to lunch at a restaurant in the zoo. Kiwanis also gave goodie bags to the children. After lunch, it was time to say good bye. Some families enthusiastically pressed on to explore another part of the zoo.
The visit was indeed a memorable experience for both parents and children. They had a delightful time of bonding with each other. We are grateful to Kiwanis who organised the programme and sponsored the lunch and tickets. Thank you, Kiwanis!
Our President, Dato Hatijah Ayob represented MRDS at the 2nd Educational Forum For Families and Caregivers on Mucopolysaccharidoses (MPS) on 11-13 Oct 2009. This event was organised by Taiwan MPS Society.
For more information on MPS Taiwan, you can visit their website www.mpssociety.org.tw
MRDS has been fortunate to be chosen as 1 of the 20 charitable organisations in Malaysia
For more information on KL Rat Race, please visit www.klratrace.com.my
Mesyuarat Agung Tahun Ketiga PPJJM telah diadakan pada 21 Jun 2009 dimana pemilihan ahli jawatankuasa untuk tahun 2009-2011 telah dijalankan. Dato’ Hatijah Ayob dikekalkan sebagai presiden PPJJM bagi penggal yang baru.
Encik Abdul Halim Ismail, seorang ahli PPJJM berkongsi pengalamannya membesarkan seorang anak yang mempunyai Duchenne Muscular Dystrophy (DMD). DMD adalah sejenis penyakit otot dimana otot menjadi lemah disebabkan sistem badan yang tidak dapat menghasilkan protin kepada otot. Perjumpaan berakhir dengan sesi perbincangan ibubapa secara kumpulan.
February 28, 2013 marks the sixth international Rare Disease Day coordinated by EURORDIS and organized with rare disease national alliances in 24 European countries.
On and around this day hundreds of patient organizations from more than 60 countries and regions worldwide are planning awareness-raising activities converging around the slogan “Rare Disorders without Borders”
Activities will take place across Europe, all the way to Russia, continuing to China and Japan, in the US and Canada, and as far as Australia and New Zealand!
Rare Disease Day is open to everyone! Individuals, patients, patient organisations, health professionals, researchers, drug developers, public health authorities – the more, the better!
As you’ll find out, there’s more than one way of getting involved. Let’s join our efforts to give hope to rare disease patients all over the world!
Watch Yann Le Cam, Chief Executive Officer, EURORDIS give a message about Rare Disease Day 2013.
Visit the Rare Disease Day website to get involved: http://www.rarediseaseday.org
Share the official 2013 Rare Disease Day video: http://youtu.be/n6HReXaUUSw
The Asia Pacific Society of Human Genetics is organising the 10th Asia-Pacific Conference on Human Genetics 2012 on:
Date: 5-8th December 2012
Venue: Crowne Plaza Hotel, Kuala Lumpur.
Topics to be covered are:
- advances in genetic diagnostics and technology
- advances in treatment of genetic diseases
- genetics education and counselling
- preventative strategies for birth defects
- bioethics
- inborn errors of metabolism
Although this Conference is targeted toward medical & allied health professionals, you can still attend if you are interested in any of the lectures.
For more info and details of the fees, please visit:
www.apchg2012.org
SHAH ALAM: Students of International Education College (Intec), UiTM Shah Alam, organized a charity run recently. It was the first time the students organized a charity run as part of their co-curricular activities.
“The students have to organize projects that benefit the community as part of their co-curricular activities. It is an opportunity for them to work together and to view society around them apart from their books,” said Vincent David, an Intec lecturer and co-curricular advisor to the students.
About 400 students participated in the run which was held on 15 October 2011. The 2.7 km run was held at the college grounds. It started at 8am and had both men’s and women’s categories. The top 10 winners were awarded medals and hampers. Completion medals were given for the top 30 runners. There was also a lucky draw. The organizing committee for the charity run was able to get sponsorship for drinks and prizes.
The proceeds of the charity run amounting to RM2,700 went to the Malaysian Rare Disorders Society (MRDS). MRDS was invited to give a speech to the students about activities of the society. MRDS also had a booth to display materials about rare disorders.
On 18th April 2009, Kiwanis USJ invited MRDS to participate in Kiwanis Malaysia’s Annual Children’s Party held in Sunway Lagoon. The event was sponsored by Sunway Lagoon Theme Park and the Sunway Resort Hotel & Spa. Due to the limited places, 5 families from MRDS were invited to participate. Among which, 9 children with rare disorders, 3 siblings and 6 caregivers attended this fun-filled event together with 455 other children from 21 homes and NGO’s in Malaysia. The children were allowed to go on all the rides in Sunway Lagoon and they were given a treat of buffet lunch together with party packs. The event lasted the whole day from 9am till 4pm in the evening. The MRDS members had lots of fun and excitement thanks to Kiwanis USJ members that helped oversee the needs of our children. For more information on this event, please log on to, http://www.kiwanis.org.my/article.cfm?ID=248.
Kiwanis USJ is one of the 50 Kiwanis clubs in Malaysia. Since 2007, Kiwanis USJ has adopted MRDS as their community club and has helped MRDS raised funds through the ‘Lend A Hand’ Project. Apart from that, the Kiwanis USJ members have also volunteered their efforts during some of the MRDS events. Kiwanis USJ has given us their continuous support in various means and will continue to support MRDS in achieving our objectives especially in creating awareness on rare disorders in Malaysia. For more information on Kiwanis Malaysia, please log on to www.kiwanis.org.my
Three events were carried out in conjunction with Rare Disease Day 2010 in Malaysia.
1. RARE DISEASE DAY EXHIBITION
An exhibition was organized at Pusat Perubatan Universiti Malaya, Kuala Lumpur. It spanned a period of four days and provided information on the organisation, as well as details on Rare Disease Day and its significance. Reading materials on various types of rare diseases and also general information on what are rare diseases were available. Posters on what the organisation is about and the activities they do were put up for viewing. It attracted a significant number of visitors, most of whom had either never heard of the term before or knew someone who exhibited certain symptoms but have not been given a diagnosis.
2. PRESS CONFERENCE
The press conference was held to create awareness among the public on the existence of these disorders in the society and to hopefully stir them to play a part in providing support in one way or another to patients and families of interest. It is also hoped that the government’s attention and commitment towards this cause would be increased as public awareness elevates. Speakers at the press conference included the MRDS President, Dato’ Hatijah Ayob and the consultant paediatrician cum head of University of Malaya Medical Centre genetics unit, Prof M. K. Thong.
Among the issues that were highlighted during the press conference are:
• Lack of accessibility to drugs and when they are available, the high cost involved in obtaining them
• The setting up of a foundation to help fund medications, testing and research
• The lack of medical professionals specialising in rare diseases such as clinical geneticists and genetic counsellors
• The absence of a comprehensive registry on rare disease patients
Also announced at the press conference was the Jelajah Jarang Jumpa (JJJ) Cyclethon – Jelajah Harapan event to be held in September 2010. This event is organised to raise funds for the foundation. MRDS has agreed to enlist a team of four amateur cyclists with really big hearts, who offered to cycle the length of peninsula Malaysia and raise funds through corporate and personal appeals, and at the same time to create awareness on rare diseases. The proceeds raised from the JJJ Cyclethon challenge, which will span a period of 13 days covering more than a thousand kilometres, will entirely be channelled to the foundation.
The press conference was aired by the Bernama radio station, televised by TV3 and TV9 during their primetime news and was also reported in The Star and Metro newspapers. The exposure given by the media for this event is certainly a good starting point towards promoting this cause and has helped to set the groundwork for more intense efforts to be undertaken in the future.
3. RARE DISEASE DAY GATHERING
A social gathering for people with rare diseases and their family members was held on 28th February at the residence of MRDS President, Dato’ Hatijah Ayob. It provided an avenue for members to meet and share their stories with each other as well as for MRDS to reach out to new members and explain to them the role of the society. The evening also turned out to be fun for the children as they were kept busy with sand art and balloons.
Persatuan Penyakit Jarang Jumpa Malaysia (PPJJM) bersama dengan Persatuan Genetik Perubatan Malaysia (PGPM) telah menganjurkan Persidangan Penyakit Jarang Jarang Jumpa Kali Pertama dan Persidangan Perubatan Genetik 2011 yang berlangsung pada 9-10 Jun 2011 di Petaling Jaya.
Persidangan ini unik kerana untuk kali pertama di Malaysia ia membawa keluarga-keluarga yang terjejas dengan penyakit jarang jumpa, para profesional perubatan dan ahli perkhidmatan sokongan perubatan di bawah satu bumbung untuk berbincang tentang perkara-perkara berkenaan penyakit jarang jumpa. Lain-lain peserta dalam Persidangan ini termasuk wakil dari Kementerian kerajaan yang berkenaan, wakil-wakil dari badan bukan kerajaan, pelajar-pelajar perubatan dan wakil-wakil dari pertubuhan penyakit jarang jumpa antarabangsa. Lebih 170 orang peserta telah menyertai Persidangan ini.
Majlis pembukaan Persidangan ini telah diserikan dengan persembahan muzik yang menarik daripada dua remaja pesakit penyakit jarang jumpa iaitu adik Amir Hamzah yang mempunyai penyakit ‘achondroplasia’ (kerdil) dan Encik William Chen yang mempunyai sindrom Williams. Penceramah-penceramah yang telah menarik perhatian peserta pada hari pertama Persidangan adalah Yvonne Foong dan Dato’ Sri Dr Sim Ooi Hong. Yvonne Foong, seorang pesakit penyakit ’neurofibromatosis’, telah memberi perspektifnya tentang rawatan yang telah diterimanya dan pentingnya bagi para profesional perubatan untuk mempunyai sikap penyayang terhadap pesakit.
Dato’ Sri Dr Sim Ooi Hong, seorang pesakit tulang rapuh dan juga seorang peguam telah memberi ulasan tentang Akta Orang Kurang Upaya termasuk kekurangannya. Dia menyatakan bahawa Akta OKU seharusnya menguatkuasakan tanggungjawab sosial masyarakat terhadap orang kurang upaya.
Puan Serena Wu, penceramah jemputan dari Taiwan Foundation for Rare Disorders (TFRD) telah menceritakan bagaimana dengan kerjasama jabatan kesihatan Taiwan, media massa dan ahli-ahli parlimen dan dengan lobi TFRD, ‘Rare Disease Prevention and Orphan Drug Act’ diluluskan sebagai undang-undang di Taiwan pada tahun 2000. Akta ini membolehkan pesakit penyakit jarang jumpa menerima bantuan kewangan bagi ubatan dan rawatan dan bagi ujian genetik. Proses pendaftaran ubatan bagi penyakit jarang jumpa (orphan drugs) juga dipercepatkan dan dilicinkan.
Akta ini juga memberi galakan kepada pihak berkuasa untuk mengambil langkah pencegahan penyakit jarang jumpa seperti ‘newborn screening’, pemeriksaan prenatal dan R&D. Para peserta juga berkesempatan mendengar ceramah dari pihak swasta mengenai perkhidmatan ujian genetik terkini di Malaysia.
Di antara penceramah pada hari kedua ialah wakil dari Kementerian Pendidikan, Encik Bong Muk Shin yang berceramah tentang pelan pendidikan individu bagi kanak-kanak OKU. Ramai ibubapa telah mengambil peluang untuk mengemukakan soalan tentang pendidikan anak mereka.
Dua forum telah diadakan dengan tajuk Kaunseling Genetik dan Cabaran Disabiliti dimana ahli panel dari berbagai badan dan kementerian telah memberi pendapat dan cadangan mereka. Dalam forum Cabaran Disabiliti, satu daripada perkara yang dibincangkan adalah peluang pekerjaan bagi golongan OKU dan bagaimana untuk membantu mereka memperoleh kemahiran serta modal untuk memulakan perniagaan kecil.
Pada masa yang sama, PPJJM dan PGPM telah mengadakan 2 pameran poster. Pameran poster PPJJM adalah mengenai pengenalan kepada penyakit jarang jumpa dan aktiviti PPJJM manakala pameran poster
PGPM merupakan ringkasan kertas penyelidikan genetik dalam format poster. Hadiah-hadiah telah diberi untuk 3 poster terbaik.
Gerai PPJJM telah didirikan di luar dewan dengan tujuan untuk menjual buku terbitan PPJJM, mengedar risalah tentang penyakit jarang jumpa dan mendapat ahli-ahli baru.
Pada akhir Persidangan, cadangan-cadangan yang dikemukakan semasa Persidangan telah dipersembahkan secara ringkas kepada peserta-peserta.
The Malaysian Rare Disorders Society (MRDS) together with the Kiwanis Club of USJ (Kiwanis) organized a visit to Zoo Negara on 26th June 2010. Eight families participated in the visit. It was a special day for the MRDS families as it was a rare opportunity for them to go out on a family outing.
The families started with a stroll around the zoo. The children were excited to see giraffes, elephants, monkeys and all sorts of animals up close. The group then proceeded to the animal show where the children enjoyed watching a parrot, a kite, a seal and a sea-lion performing tricks.
Later, the families were treated to lunch at a restaurant in the zoo. Kiwanis also gave goodie bags to the children. After lunch, it was time to say good bye. Some families enthusiastically pressed on to explore another part of the zoo.
The visit was indeed a memorable experience for both parents and children. They had a delightful time of bonding with each other. We are grateful to Kiwanis who organised the programme and sponsored the lunch and tickets. Thank you, Kiwanis!
Our President, Dato Hatijah Ayob represented MRDS at the 2nd Educational Forum For Families and Caregivers on Mucopolysaccharidoses (MPS) on 11-13 Oct 2009. This event was organised by Taiwan MPS Society.
For more information on MPS Taiwan, you can visit their website www.mpssociety.org.tw
MRDS has been fortunate to be chosen as 1 of the 20 charitable organisations in Malaysia
For more information on KL Rat Race, please visit www.klratrace.com.my
Mesyuarat Agung Tahun Ketiga PPJJM telah diadakan pada 21 Jun 2009 dimana pemilihan ahli jawatankuasa untuk tahun 2009-2011 telah dijalankan. Dato’ Hatijah Ayob dikekalkan sebagai presiden PPJJM bagi penggal yang baru.
Encik Abdul Halim Ismail, seorang ahli PPJJM berkongsi pengalamannya membesarkan seorang anak yang mempunyai Duchenne Muscular Dystrophy (DMD). DMD adalah sejenis penyakit otot dimana otot menjadi lemah disebabkan sistem badan yang tidak dapat menghasilkan protin kepada otot. Perjumpaan berakhir dengan sesi perbincangan ibubapa secara kumpulan.
February 28, 2013 marks the sixth international Rare Disease Day coordinated by EURORDIS and organized with rare disease national alliances in 24 European countries.
On and around this day hundreds of patient organizations from more than 60 countries and regions worldwide are planning awareness-raising activities converging around the slogan “Rare Disorders without Borders”
Activities will take place across Europe, all the way to Russia, continuing to China and Japan, in the US and Canada, and as far as Australia and New Zealand!
Rare Disease Day is open to everyone! Individuals, patients, patient organisations, health professionals, researchers, drug developers, public health authorities – the more, the better!
As you’ll find out, there’s more than one way of getting involved. Let’s join our efforts to give hope to rare disease patients all over the world!
Watch Yann Le Cam, Chief Executive Officer, EURORDIS give a message about Rare Disease Day 2013.
Visit the Rare Disease Day website to get involved: http://www.rarediseaseday.org
Share the official 2013 Rare Disease Day video: http://youtu.be/n6HReXaUUSw
The Asia Pacific Society of Human Genetics is organising the 10th Asia-Pacific Conference on Human Genetics 2012 on:
Date: 5-8th December 2012
Venue: Crowne Plaza Hotel, Kuala Lumpur.
Topics to be covered are:
- advances in genetic diagnostics and technology
- advances in treatment of genetic diseases
- genetics education and counselling
- preventative strategies for birth defects
- bioethics
- inborn errors of metabolism
Although this Conference is targeted toward medical & allied health professionals, you can still attend if you are interested in any of the lectures.
For more info and details of the fees, please visit:
www.apchg2012.org
SHAH ALAM: Students of International Education College (Intec), UiTM Shah Alam, organized a charity run recently. It was the first time the students organized a charity run as part of their co-curricular activities.
“The students have to organize projects that benefit the community as part of their co-curricular activities. It is an opportunity for them to work together and to view society around them apart from their books,” said Vincent David, an Intec lecturer and co-curricular advisor to the students.
About 400 students participated in the run which was held on 15 October 2011. The 2.7 km run was held at the college grounds. It started at 8am and had both men’s and women’s categories. The top 10 winners were awarded medals and hampers. Completion medals were given for the top 30 runners. There was also a lucky draw. The organizing committee for the charity run was able to get sponsorship for drinks and prizes.
The proceeds of the charity run amounting to RM2,700 went to the Malaysian Rare Disorders Society (MRDS). MRDS was invited to give a speech to the students about activities of the society. MRDS also had a booth to display materials about rare disorders.
On 18th April 2009, Kiwanis USJ invited MRDS to participate in Kiwanis Malaysia’s Annual Children’s Party held in Sunway Lagoon. The event was sponsored by Sunway Lagoon Theme Park and the Sunway Resort Hotel & Spa. Due to the limited places, 5 families from MRDS were invited to participate. Among which, 9 children with rare disorders, 3 siblings and 6 caregivers attended this fun-filled event together with 455 other children from 21 homes and NGO’s in Malaysia. The children were allowed to go on all the rides in Sunway Lagoon and they were given a treat of buffet lunch together with party packs. The event lasted the whole day from 9am till 4pm in the evening. The MRDS members had lots of fun and excitement thanks to Kiwanis USJ members that helped oversee the needs of our children. For more information on this event, please log on to, http://www.kiwanis.org.my/article.cfm?ID=248.
Kiwanis USJ is one of the 50 Kiwanis clubs in Malaysia. Since 2007, Kiwanis USJ has adopted MRDS as their community club and has helped MRDS raised funds through the ‘Lend A Hand’ Project. Apart from that, the Kiwanis USJ members have also volunteered their efforts during some of the MRDS events. Kiwanis USJ has given us their continuous support in various means and will continue to support MRDS in achieving our objectives especially in creating awareness on rare disorders in Malaysia. For more information on Kiwanis Malaysia, please log on to www.kiwanis.org.my
Three events were carried out in conjunction with Rare Disease Day 2010 in Malaysia.
1. RARE DISEASE DAY EXHIBITION
An exhibition was organized at Pusat Perubatan Universiti Malaya, Kuala Lumpur. It spanned a period of four days and provided information on the organisation, as well as details on Rare Disease Day and its significance. Reading materials on various types of rare diseases and also general information on what are rare diseases were available. Posters on what the organisation is about and the activities they do were put up for viewing. It attracted a significant number of visitors, most of whom had either never heard of the term before or knew someone who exhibited certain symptoms but have not been given a diagnosis.
2. PRESS CONFERENCE
The press conference was held to create awareness among the public on the existence of these disorders in the society and to hopefully stir them to play a part in providing support in one way or another to patients and families of interest. It is also hoped that the government’s attention and commitment towards this cause would be increased as public awareness elevates. Speakers at the press conference included the MRDS President, Dato’ Hatijah Ayob and the consultant paediatrician cum head of University of Malaya Medical Centre genetics unit, Prof M. K. Thong.
Among the issues that were highlighted during the press conference are:
• Lack of accessibility to drugs and when they are available, the high cost involved in obtaining them
• The setting up of a foundation to help fund medications, testing and research
• The lack of medical professionals specialising in rare diseases such as clinical geneticists and genetic counsellors
• The absence of a comprehensive registry on rare disease patients
Also announced at the press conference was the Jelajah Jarang Jumpa (JJJ) Cyclethon – Jelajah Harapan event to be held in September 2010. This event is organised to raise funds for the foundation. MRDS has agreed to enlist a team of four amateur cyclists with really big hearts, who offered to cycle the length of peninsula Malaysia and raise funds through corporate and personal appeals, and at the same time to create awareness on rare diseases. The proceeds raised from the JJJ Cyclethon challenge, which will span a period of 13 days covering more than a thousand kilometres, will entirely be channelled to the foundation.
The press conference was aired by the Bernama radio station, televised by TV3 and TV9 during their primetime news and was also reported in The Star and Metro newspapers. The exposure given by the media for this event is certainly a good starting point towards promoting this cause and has helped to set the groundwork for more intense efforts to be undertaken in the future.
3. RARE DISEASE DAY GATHERING
A social gathering for people with rare diseases and their family members was held on 28th February at the residence of MRDS President, Dato’ Hatijah Ayob. It provided an avenue for members to meet and share their stories with each other as well as for MRDS to reach out to new members and explain to them the role of the society. The evening also turned out to be fun for the children as they were kept busy with sand art and balloons.
Persatuan Penyakit Jarang Jumpa Malaysia (PPJJM) bersama dengan Persatuan Genetik Perubatan Malaysia (PGPM) telah menganjurkan Persidangan Penyakit Jarang Jarang Jumpa Kali Pertama dan Persidangan Perubatan Genetik 2011 yang berlangsung pada 9-10 Jun 2011 di Petaling Jaya.
Persidangan ini unik kerana untuk kali pertama di Malaysia ia membawa keluarga-keluarga yang terjejas dengan penyakit jarang jumpa, para profesional perubatan dan ahli perkhidmatan sokongan perubatan di bawah satu bumbung untuk berbincang tentang perkara-perkara berkenaan penyakit jarang jumpa. Lain-lain peserta dalam Persidangan ini termasuk wakil dari Kementerian kerajaan yang berkenaan, wakil-wakil dari badan bukan kerajaan, pelajar-pelajar perubatan dan wakil-wakil dari pertubuhan penyakit jarang jumpa antarabangsa. Lebih 170 orang peserta telah menyertai Persidangan ini.
Majlis pembukaan Persidangan ini telah diserikan dengan persembahan muzik yang menarik daripada dua remaja pesakit penyakit jarang jumpa iaitu adik Amir Hamzah yang mempunyai penyakit ‘achondroplasia’ (kerdil) dan Encik William Chen yang mempunyai sindrom Williams. Penceramah-penceramah yang telah menarik perhatian peserta pada hari pertama Persidangan adalah Yvonne Foong dan Dato’ Sri Dr Sim Ooi Hong. Yvonne Foong, seorang pesakit penyakit ’neurofibromatosis’, telah memberi perspektifnya tentang rawatan yang telah diterimanya dan pentingnya bagi para profesional perubatan untuk mempunyai sikap penyayang terhadap pesakit.
Dato’ Sri Dr Sim Ooi Hong, seorang pesakit tulang rapuh dan juga seorang peguam telah memberi ulasan tentang Akta Orang Kurang Upaya termasuk kekurangannya. Dia menyatakan bahawa Akta OKU seharusnya menguatkuasakan tanggungjawab sosial masyarakat terhadap orang kurang upaya.
Puan Serena Wu, penceramah jemputan dari Taiwan Foundation for Rare Disorders (TFRD) telah menceritakan bagaimana dengan kerjasama jabatan kesihatan Taiwan, media massa dan ahli-ahli parlimen dan dengan lobi TFRD, ‘Rare Disease Prevention and Orphan Drug Act’ diluluskan sebagai undang-undang di Taiwan pada tahun 2000. Akta ini membolehkan pesakit penyakit jarang jumpa menerima bantuan kewangan bagi ubatan dan rawatan dan bagi ujian genetik. Proses pendaftaran ubatan bagi penyakit jarang jumpa (orphan drugs) juga dipercepatkan dan dilicinkan.
Akta ini juga memberi galakan kepada pihak berkuasa untuk mengambil langkah pencegahan penyakit jarang jumpa seperti ‘newborn screening’, pemeriksaan prenatal dan R&D. Para peserta juga berkesempatan mendengar ceramah dari pihak swasta mengenai perkhidmatan ujian genetik terkini di Malaysia.
Di antara penceramah pada hari kedua ialah wakil dari Kementerian Pendidikan, Encik Bong Muk Shin yang berceramah tentang pelan pendidikan individu bagi kanak-kanak OKU. Ramai ibubapa telah mengambil peluang untuk mengemukakan soalan tentang pendidikan anak mereka.
Dua forum telah diadakan dengan tajuk Kaunseling Genetik dan Cabaran Disabiliti dimana ahli panel dari berbagai badan dan kementerian telah memberi pendapat dan cadangan mereka. Dalam forum Cabaran Disabiliti, satu daripada perkara yang dibincangkan adalah peluang pekerjaan bagi golongan OKU dan bagaimana untuk membantu mereka memperoleh kemahiran serta modal untuk memulakan perniagaan kecil.
Pada masa yang sama, PPJJM dan PGPM telah mengadakan 2 pameran poster. Pameran poster PPJJM adalah mengenai pengenalan kepada penyakit jarang jumpa dan aktiviti PPJJM manakala pameran poster
PGPM merupakan ringkasan kertas penyelidikan genetik dalam format poster. Hadiah-hadiah telah diberi untuk 3 poster terbaik.
Gerai PPJJM telah didirikan di luar dewan dengan tujuan untuk menjual buku terbitan PPJJM, mengedar risalah tentang penyakit jarang jumpa dan mendapat ahli-ahli baru.
Pada akhir Persidangan, cadangan-cadangan yang dikemukakan semasa Persidangan telah dipersembahkan secara ringkas kepada peserta-peserta.
The Malaysian Rare Disorders Society (MRDS) together with the Kiwanis Club of USJ (Kiwanis) organized a visit to Zoo Negara on 26th June 2010. Eight families participated in the visit. It was a special day for the MRDS families as it was a rare opportunity for them to go out on a family outing.
The families started with a stroll around the zoo. The children were excited to see giraffes, elephants, monkeys and all sorts of animals up close. The group then proceeded to the animal show where the children enjoyed watching a parrot, a kite, a seal and a sea-lion performing tricks.
Later, the families were treated to lunch at a restaurant in the zoo. Kiwanis also gave goodie bags to the children. After lunch, it was time to say good bye. Some families enthusiastically pressed on to explore another part of the zoo.
The visit was indeed a memorable experience for both parents and children. They had a delightful time of bonding with each other. We are grateful to Kiwanis who organised the programme and sponsored the lunch and tickets. Thank you, Kiwanis!
Our President, Dato Hatijah Ayob represented MRDS at the 2nd Educational Forum For Families and Caregivers on Mucopolysaccharidoses (MPS) on 11-13 Oct 2009. This event was organised by Taiwan MPS Society.
For more information on MPS Taiwan, you can visit their website www.mpssociety.org.tw
MRDS has been fortunate to be chosen as 1 of the 20 charitable organisations in Malaysia
For more information on KL Rat Race, please visit www.klratrace.com.my
Mesyuarat Agung Tahun Ketiga PPJJM telah diadakan pada 21 Jun 2009 dimana pemilihan ahli jawatankuasa untuk tahun 2009-2011 telah dijalankan. Dato’ Hatijah Ayob dikekalkan sebagai presiden PPJJM bagi penggal yang baru.
Encik Abdul Halim Ismail, seorang ahli PPJJM berkongsi pengalamannya membesarkan seorang anak yang mempunyai Duchenne Muscular Dystrophy (DMD). DMD adalah sejenis penyakit otot dimana otot menjadi lemah disebabkan sistem badan yang tidak dapat menghasilkan protin kepada otot. Perjumpaan berakhir dengan sesi perbincangan ibubapa secara kumpulan.
