A Great Fund Raising Piano Concert From Rare Disorders Society Singapore

Our family plus my parents in law attended the RDSS organized fund raising Piano Concert in KK Woman & Children Hospital in Singapore on 3 Sep 11. It was a very rushing trip, my girls were at KL for their infusion on 2 Sep 11. Then we were at Singapore the next afternoon. Nevertheless I enjoyed the concert very much. RDSS has done a great job. All the children that appeared on stage had tried their very best to play the pieces that I believed they have practiced for some time. Though some may have showed a little bit of panicky, but they never quit and played on.

My attention was attracted to 2 of the presenters. One of them is the little girl Adelyn that is blind with a rare eye disorder. She is in her 9 or 10 years old (can't remember clearly now), she had really played whole heartedly; you will be able to sense the extra energy that she had put in on the keyboards. Despite her vision loss, her pieces were so touching. I would still give her perfect 10 even though she is not blind, there is no difference at all...

There was another great presenter, a young chap at 13 years old if I was not wrong. I was enjoying his music, but could not tell where the music comes from...It felt strange to me that I had never heard of it before. I love to listen to classical music but just haven't heard it before. It was only when he had completed both pieces and when the MC interviewed him that it was revealed both songs were actually composed by him. I just can't believe my ears...At the time of his presentation, I noted that he was a talented player but I would never expect his talent is so much more.

Then Patricia (RDSS's president) went up stage to share a note written by a recently passed away little angel, Xin Er's mother. The feeling was very heavy. But I got to salute Xin Er as she had fought her battle in a warrior way though she lost at the end of the battle.  My tears run down when Pat's nieces started singing the song "Firefly" in Mandarin....A lot of mixed feeling...

At the end of the session, I got a chance to carry Chloe (Pat's daugther with Pompe) and we have taken photos too. She is left to fight on without Xin Er around but I see her strong fighting spirit and her parents too. I think she will be grow up just like Wei Ling one day. Wish her well...

There are 3 videos's that I am attaching with this blog, take a look yourself...I was trying to upload but it took hours and not done by. So, I settled for attaching the link. Once you move your moust to the text for few seconds, you will see a line appeared under the text. Click on the text again, it will direct you to the youtube page.


Little Adelyn
Little composer
Tribute to Xin Er


KF wrote on 15 Sep 11

I am going to Taipei soon

If I didn't meet up with Kwee Ming today, I probably will still delay the write up of this post; cause my house is in a big mess...He told me he was following my blog, that gave me encouragement to write one today...It's like almost 3 weeks since I last wrote one...As a housewife, I scared most of school holiday...No free and leisure time at all. I need a long long time to regain my energy after any holiday break.

For the Taiwan trip, I had no time to do any packing yet, even though this time, my entire family will be flying over to Tao Yuan. We are going to stay in Taiwan for 10+ days. We are going there to attend a MPS conference and the kids could attend their children workshop. 1 stone 2 birds. We think it's a good family outing plus it's time to get my kids to learn about what me and hubby do. There will be a gathering too for Pompe patients. This is great as my girls are yet to meet up with any Pompe patients of their age. Those that we had met are mainly babies and 1 adult. Can't wait to meet up with other Pompe families from Taiwan and Hong Kong. Out of the 10+ days, the first 4 days are mainly for official matters. The left behind 6 days are completely free of any obligations. We have booked the hotels and had our trip planned. This round, we will go to Taipei, Tai Chung and Sun Moon Lake. There are a lot more places we would like to go, but time does not allowed us to do so. We will just go there and execute the travel plan, the pace of the travelling is very much dependent on my little princess Wei Ling. I am not sure how well she will cope up, so we are going to bring her stroller after some good advise from Kwan and Wan Yu (she is from Kao Tsiung). But this Taiwan trip is not well accepted by the school as we are going to make use of 7 school days...The new principal almost refused to release my kids, but luckily it's not school exam time yet. We come back just 1 week before the exam...I have to promise her that this will be the last time that we have such a plan. In our nowadays society, result and exam is our kids's entire life...It is a pity but I don't know how to turn it around...

Why do I sound too busy until no time to pack, cause there is a "tumpang" dinner on 19 Sep 11, MLDA had gathered about 40 members and families to submit a copy of a memorandum to our beloved health minister. In the memorandum, we are voicing out the patients' treatment right even though the diseases are rare and costly. For the past 1+ week, I was cracking my head trying to put down words into the memorandum from the skeleton given by the adviser. I am not a good writer so it takes me a longer time to compose. Besides, I have to call the parents 1 by 1 to invite them to join the dinner. Hardly do I have 1 call kautim everything. I have to make at least 2 calls to get the members to join us. In certain cases, I have to talk for a long long time before I could convince the parents to come. Apparently, I am not a very good negotiator. After joining MLDA, notice that I need to polish up a lot of skills, writing, convincing, counselling, presenting and time management...Those are just some of the more critical ones, there are more skills to be mastered...Like a Chinese saying "活到老，学到老；学到老，学不了！“。 It means we have to continue learning as long as we live, and there will be no end to the learning.


KF wrote on 14 Sep 11

我的婆婆妈妈,我的守护神!

这一路走过来，有两位我一定要谢谢的贵人；那就是我的家婆和我的妈妈。如果没有他们我想现在的我不知会是怎么样？

每一次她们都在我有需要的时候伸出双手，扶了我一把。小时候的玮玲是医院的长客，久不久就来一个肺炎，间中或来一个大泻不止。搞到我差一点精神分裂。。。现在回想起也不知自己是怎么样走过来。只有惨惨惨的回忆。。。

她们两位老人家总是我一个电话过去，下一刻（通常是家婆，因她比较急性而且也住得比较近）或第二天（我妈都是安顿好老爸，然后自己撘巴士来）就到我家帮我照顾两个大东瓜。让我在医院陪伴小瓜时没有后顾之忧。

我的妈妈甚至在我生了老二及老三后（这是老爸也被逼跟过来），陪了我老半年才安心回老家。虽然她还有老爸都不太适应我家的环境，但都硬硬撑了下来。我的三餐都是她老人家在张罗，想想还真是有点惭愧。但同时也是超幸福的。。。

而家婆总是在每两个星期五我带两位公主去KL放药时来我家报到，帮我看看我的王子。从来没有听过她言累。。。

虽然今天不是母亲节，但还是想谢谢她们无私的奉献及不求回报的付出。

妈！真的有您们真好，但愿您们都能身体健健康康，每一天都能安枕无忧。。。


建芬 于二零一一年八月二七日

I Decided To Get A Portable Hard Disk...

My old Toshiba notebook is running slower nowadays, unlike the earlier day when my sister passed me. It used to run pretty fast. But not now...So, I have brought it to see my friend in S2 that knows how to fix up the notebook. I thought he would be telling me that my PC was too old and needed to be replaced. Then I could have a good excuse to replace my notebook. But no, that's not what he told me. Instead he told me the notebook was ok, only thing that the storage was not. Almost 90% of the capacity (miserably 60G) had been used up, therefore there was not much resources for the PC to run.

So, instead of getting a new notebook for myself. I got myself a 500G portable hardisk, that is a cheaper solution. I had planned to transfer all my working files into the new hardisk as those files were the ones that took up most of the spaces.

After buying the new hardisk, I started with the file transfer. While I was doing that, I found so many old photos that I had almost forgotten about their existence. There were some videos too especially those that had been taken while the kids were much younger. I was like going back into time, all the old memories started to resurface after so long...Things were no longer in my normal storage, suddenly appear out of nowhere. No wonder we need to take photos and videos cause it is really the best way of keeping the progress of one's life. At the same time, all the emotions embedded with the memories started to get agitated too. There are sweet, bitter and neutral feeling behind each photo and video. But when I take a new look at it now, I noticed I could be at ease with the emotional roller coaster that I once in...

I think it's a good practice to revisit the old photos once in a while, then we had a chance to do some reflection. I do not know for others, at least for me I think it's a good way to consolidate all the loose thoughts in my mind through refreshing of the old memories. At the end of the day, I became more settled....


KF
Wrote on 27 Aug 11

Side note:
This blog is supposed to be published earlier. But I have overdone my file transfer so much so that I have accidently removed some of the system files, so my notebook got too upset and refused to run at all...Now, it's in the hand of my friend. I don't know when I am going to get it back but I hope it will not be too long cause I missed it so much...

MPS II Brothers From Mersing

Even before I joined in Malaysia Lysosomal Diseases Association (MLDA), I had a thought of writing down the story of different patients I met in the hospital. A lot of them were sad stories and some may need help physically or financially. But I didn't have the confident that I could write a beautiful story then. Still now my English command was still the same yet I realized if I could share with you what I saw, then you had a chance to learn about Lysosomal Storage Diseases (LSD) diseases and how it affect the patients and patients' families. To me, it's like having a budget free awareness program...:)

Khairul Nazmi Azizi (called Nazmi later) and Khairul Muiz Muhaimi (called Muiz later) were borned to be normal and healthy as any other kids. This storyline mainly covered Nazmi as Muiz is still very young at 2 year old, so we were yet to see more changes on him. They were borned into a family of 4 children (3 boys and 1 girl) with Nazmi being the eldest and Muiz being the youngest. Although only their father was working, everything looked fine and their mom Puan Sunarti had no problem handling the little resources.

Nazmi was borned in 1999, he was a chubby and happy baby, no one would ever suspect such a healthy baby would be down with MPS II one day. The disease started to progress very slowly, the changes were all very subtle initially. What Puan Sunarti noticed at the earlier stage around 2 year old that Nazmi has a different palm than the other kids. Both palms were very meaty and rounded. Other than that, everything seemed the same. The other thing she noticed was Nazmi's Mongolian marks at his back took a much longer time to disappear, it was until he was 5 to 6 year old that it finally went off. So, Puan Sunarti started asking different doctors about the rounded palms that Nazmi had. All the answers she got were quite standard that was Nazmi was chubby, thus it showed on the palms too. A logical answer.

Life went on until Nazmi was 6 year old in the year of 2005. That time, they were still staying in one of the small island outside of Mersing. Nazmi had a terrible flu during that year and happened to see a visiting doctor from Mersing Hospital. After the inspection, the doctor told Puan Sunarti that he suspected something wrong with Nazmi's heart as the beating was different from a normal child. Immediately Nazmi was referred to Mersing Hospital for futher check up. From Mersing, he was referred to Johor Baru Hospital in a short while. But the diagnosis did not come out immediatly after the first visit, it was until few rounds of visit that JB's cardiologist finally confirmed that Nazmi had cardiac failure and needed an urgent surgery, that was sometime in Aug 2006. He was referred to Institute Jantung Negara (IJN) right away. This time round too, Nazmi whole body started swelling and skin were peeling off all over. Besides, his height growth started to get stunted and his face became bigger with the forehead bone protuding out little by little. And his nose bone becoming flater and there were numerous bone growth around the skull bone. So, the skull became uneven if you touched the back of his head.

Nazmi less than 1 year old just started walking,
his palms were still normal then.

After heart surgery at 8 year old, noticed his curved palms or known as claw hands

It was until Feb 2007 that he had the slot for the surgery. After the surgery, Puan Sunarti met up with one posting doctor from JB in IJN during one of the post surgery check up. This time, finally a doctor had answered Puan Sunarti query about the funny looking of Nazmi's palms. According to the doctor, Nazmi might have underlying genetic/metabolic problem causing his heart to show some sign of failure again. He was finally refered to a geneticist some time in Feb 2008. In Sep 2008, 7 months later Nazmi was diagnosed with MPS II. Everything about Nazmi little little physical changes were answered as MPS II is a kind of disease that affect the developement of the bones. They typically had stunted growth and stiff joints.

But when the younger brother Muiz growing up more and more like Nazmi, Puan Sunarti sensed something was wrong. When the doctor found out about Muiz condition, he was asked to go to Hospital Kuala Lumpur (HKL) for further investigation. Before the doctor came back with the test result, Puan Sunarti knew Muiz had the same fate as her brother cause bones started swelling up on the skull and his hands started to becoming more and more curvy. True enough in May 2010, Muiz too was diagnosed with MPS II...A big blow to the Mersing family.

Luckily, after waiting for almost 3 years for treatment. Nazmi started his treatment life in Feb 2011. The family was overwhelmed but at the same time, they were hoping Muiz treatment can start at the same time too. But due to budget limitation, the money was only good for 1 MPS II patient. They had no choice but to wait for more allocations into ERT treatment fund. This is the sad part of the story that allocations were never enough, the less fortunate one would have to wait. Waiting and getting anxious seemed to be the only thing can be done at this moment. Getting anxious is inevitable as this disease may have brain involvement as it gets worse. As soon as brain is involved, all treatment will be stopped regardless how good the body may be responding to the drugs. So, imagine if you are the parents of a child of MPS II, what sort of life that you might be going through?

My hope to share with you the story is that more will be awared of these less fortunate one and supported us in the fight for the equal treatment right of every citizen in Malaysia regarless of the medical cost.

Story and Photos Shared by Puan Sunarti
Story compiled and written by KF on 20 Aug 11
Video by KF and Lee

 

Note on MPS II

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MPS II is a X-linked recessive whereby only male or boy get affected and female or girl will be the carrier. Therefore, X-linked recessive diseases are typically more common than the normal autosomal recessive. The problem with MPS II was the body can not break down mucopolysaccharidosis or known as glycosaminoglycans (GAG). In Hunter syndrome, GAG builds up in cells throughout the body due to a deficiency or absence of the enzyme iduronate-2-sulfatase (I2S). This buildup interferes with the way certain cells and organs in the body function and leads to a number of serious symptoms. As the buildup of GAG continues throughout the cells of the body, signs of Hunter syndrome become more visible. Physical manifestations for some people with Hunter syndrome include distinct facial features and large head. In some cases of Hunter syndrome, central nervous system involvement leads to developmental delays and nervous system problems. Not all people with Hunter syndrome are affected by the disease in exactly the same way, and the rate of symptom progression varies widely. However, Hunter syndrome is always severe, progressive, and life-limiting.

Info taken from Wikipedia