I had a great time at the First Malaysian Rare Disorders and Medical Genetics Conference held at Armada last week, June 9-10, 2011. Among the attendees of the conference were patients and families of rare disorders, government department staff who work with persons with disabilities, NGO’s, doctors, nurses, medical scientists and many more. I have been given the honour of presenting at the planery session on the second day, sharing experience of Adnin and Aqilah who were diagnosed with Morquio Syndrome or MPS IVA.
I did not bring along Adnin and Aqilah on the first day because I thought the complimentary registration was for me alone. It was alright because during the first day I had the chance to concentrate on the conference listening to the presenters. The one I like most was the presentation on ‘Rare disorders and basic genetics 101 by Prof Thong. I like his analogy of explaining how the rare disorder happens, by saying that those affected by rare disorders have spelling errors in their chromosomes, in the case of Adnin and Aqilah, the error was at chromosome 16. If we could imagine, the chromosome like chapters in the book, and chapters has sections and paragraphs (choromosome contains about 30,000 genes), the spelling errors must be at on of the paragraphs. How I wish we have a correction tape or liquid paper to correct the spelling mistakes that have happened in Adnin and Aqilah’s genes…
I brought along the kids at the conference because they are the subject of my talk. The presentation went well, I was supposed to talk on the education and childcare and since the kids had experience living in the UK, I highlighted how the developed country care for children with rare disorders and compare it here. The sharing of experience touched the hearts of many, especially when in the end I showed a video clip on the kids highlighting that they were selected for the clinical trial on enzyme replacement therapy but didn’t get it because they are non-residents.
The president of MRDS (Malaysian Rare Disorders Society) met and congratulated me on the presentation; she was amazed to see how happy the kids were in the pictures I showed during the presentation. This is actually the image that we should portray about the kids who are affected with the rare diseases. They are children with ‘different abilities’ and not with ‘disabilities’. Our media likes to show the disabled persons as the ones who need sympathy, maybe they need to change their mindset. Every person is unique, it is unfortunate that they have the rare disorder, but they should not be treated differently. I’m really touched at the beginning of the conference, Amir (achondroplasia) and William (who has William Syndrome), played beautiful songs with the keyboard. Who knows what other talents the children with rare disorder might have.
Adnin and Aqilah were like stars when many people came and see us afterwards to have a closer look and to take pictures of them. A medical professor came and ask permission to use my video clip to show to her students back in her country. I have uploaded the video on youtube at this link http://www.youtube.com/watch?v=kljW4D42XzI under the title of Morquio Syndrome – the story of Adnin and Aqilah. Dubbed with Maher Zain’s Hold my hand, the video clip really touched other people’s heart. On another note, there are also some opportunities for the kids that we are going to explore, I’ll write about it later.