What Happen Last Christmas Eve 2010

It has been 5+ years that myself, Yen Ling & Wei Ling travelled to Hospital Kuala Lumpur every 2 weeks for the girls' Myozyme infusion.

There was a period of time that I wished their infusion could be done in Seremban instead of KL. Driving in KL is no fun especially on Friday's evening. Things got a lot more ugly when the Friday happened to be a holiday's eve. And guess what, I bumped into it last Christmas eve, a 1 hour drive home turned into 3 hours...To make things worse, I was driving my 15 year old manual geared Nissan Sentra. I had never complainted about having a manual car. But that day, I regreted it. I could only remembered pressing the clutch on and off, non stop through out the journey. Even the Smart tunnel was not too smart on that day, it used to be my savior but not on that particular day. The swamp of travelling South just paralyzed the entire traffic flow right from Jalan Ampang and Jalan Tun Razak junction all the way to Seremban. Luckily my 3 kids (my boy would tag along during school holiday) were sleeping most of the time, else how could their bladders handle such long hours of not going to toilet.

All sort thoughts run into my mind. How nice if I could have flexical car whereby the whole car got lifted up and the wheels could be adjusted wider to eat into the little spaces in between 2 cars. How nice if I have gone straight to my sister house in Pandan Perdana to put up a night to let the traffic cooled down by itself. How nice if I have started my going home journey early. But none of these thoughts helped, they only made me felt worse. So, I decided not to dwell in further...Really slow and steady, I reached home after 3 hours of struggling on the road. That day, I thought my body had become a turtle...But my mind had changed into another animal, a red bull...

So, I had to accept that I just hit on the jackpot that I was just too smart to be part of the migration program from North to South. Sometimes I think Malaysian is pretty much a modern nomat, we will be having massive migration during all the festive seasons.

Tomorrow I will be going to KL again for the girls' infusion. Wish me luck.


KF

Wrote on 4 Aug 2011

Doctors' Expectation - Part 1

There were times that I was so stressed up by the doctors' expectation. What they hope for are my girls to remain in healthy condition with continous positive progress and consistently acceptable academic achievement. I could reason out why doctors have such expectation. Mainly because they will need to answer to higher levels to see how effective is the drug. And if the medical budget is well spent. My fear was if my girls' turned out not within the expectation, what would happen next...

Unfortunately, their weight gain performance just can't meet up with the expectation...Wei Ling is the one that gave me more headache. Her weight gain was extremely poor. But luckily she still grows in height, or else things will be very complicated...For her to gain 2.5kg, it takes her almost 2 years. Why every 2.5kg is crucial to her, it's because for every increase of 2.5kg of her weight, she will require 1 extra bottle of Myozyme. So, I would track down her weight in every visit to the hospital. But 13 pcs of teeth being removed at the end of 2008 had been one of the major contributor to her slow gain as her chewing ability had been compromised. On top of that, she was very succeptible to infection. Every time she had any cough and cold, her weight will go down quite significantly. So her weight gain was like a roller coster. At 7 year old now, she only weighted misarably at 15kg (around 5kg below par)...She was referred twice to two different dietitians, but her small appettite just can't feed in the menu that the dietitians wished her to have. Else, she would be complaining of stomach ache. Then the doctors suggested G-tube, direct stomach tube feeding. But even the thought of her going thru the OT process was killing me, so the option was out. Finally, I have given up to ask her to feed as per recommended. As long as she is well and healthy, I don't care how slow she is going to gain her weight.

KF

Wrote on 4 Aug 11

Why Do I Start To Write After 3 Years?

Well, I was not sure if I really want my family story to be known to the general public 3 years back then. I had this other worry that someone might just kidnap this and change into theirs, suddenly Kian Foon became someone else.

But at the same time, having a blog seemed to ba a fashion then, as a homemaker with self controlled free time, it looked kind of bad not to have one...

So, being a natural libra, this kind of 50-50 thought has made me written down few posts but never wanted them to be posted until today...

Continue going to hospital every 2 weeks for my girls' infusion and seeing different patients is the key reason behind reviving my blog. I hope I could do something for the patients, at least to share with others what had happened. Hopefully someone may benefit or learn something out of this.

It's the same reason why I want MLDA to be known to all so badly. It's really the real human lifes that are in my mind. I had met up with 2 other Pompe babies but they both died after treatment due to late diagnosis. One after 2 treatments and the other one after 2 years of treatment. The latter sadden me more as he was showing improvement but still it's still too late for him. If they had been treated earlier, things will be totally different. I had seen a Taiwan Pompe boy had his treatment started within a month old, his condition was so good that I could not tell his difference to another normal boy. That was during my Taiwan trip back in 2007.

And I had seen cases of patients that are no longer eligible for treatment because the conditions had extended to their brain. A guideline being practiced in most parts of the world that treatment will not be offered to any patient with neuro/brain involvement. Sad and frustrating but it's true and it's happening before my eyes...

So, you see it's hard not to share with you what I see and how I feel...



KF
Wrote on 3 Aug 2011

Hope for Pompe

(From left: Picture taken during Wei Ling 4yr old birthday)

We have 3 lovely kids, each one of them are so special and different. The eldest one is Yen Ling, she is 7+ years old; she is a smart little girl with lots of wits. The middle one is Sze Hong, he is 6 years old; he is the most energetic one that keep on complaining about his boredom. The youngest one is Wei Ling, she is 4 years old; she is the most accommodating one with the least complaints. It was due to their character plus our ignorant that have stopped us from seeing our girls were actually having very serious muscle development problem. We thought a boy is typically more energetic than a girl. We also thought that a boy will be more masculine. Besides, all 3 of them had normal delivery with average birth weight and termed with no complication. All these facts had prevented us to think seriously of any potential underlying problem. Due to our ignorant, we had only admitted Wei Ling to hospital for thorough check when she was 1 year old…


(Left: When Yen Ling was 5.5yrs and Sze Hong 4yrs old.
Right: Yen Ling became a lot more tougher, we sent her to Wusu class early this year)


Yen Ling had started showing lower limb weakness problem when she was about 2 year old. She will fall easily and she would refuse to walk when we do our shopping when she was younger. She would always ask Yee Seng to carry her. Unlike Sze Hong, he will be running about in the supermarket. But due to the 2 had a close age gap of about 18 months, we thought she was jealous and wanted to get more attention. We never took the case seriously. We only started seeking doctor advice when she was about 3 years old after she went to kindergarten as she was the smallest one in the school. Besides, that’s really the time when we observed her falling down very often with no good reason. Her knee would just get soft and then she would surely fall down. We consulted our family doctor, he thought she was only under nutrition as she has poor appetite. She was given multivitamins as her treatment. However, her condition did not get better after taking multivitamin for few months. So, she was then referred to a specialist. The specialist told us besides taking multivitamin, she will need to go for a regular occupational therapy to strengthen up her muscle and improve on the motor skill. Still few months of therapy, there was no major improvement. We started asking ourselves what was really wrong with Yen Ling, our instinct was telling us something was wrong and she needed help but we didn’t know where else to go to…





(Left: When Wei Ling had just started few rounds of infusions. Right: Wei Ling after 1.5 yrs of ERT treatment)

While Wei Ling was delivered when Kian Foon was having flu, she came out with blocked nose. However, her stuffy nose got worse after 2 weeks and it seemed that she was having infection, later the doctor prescribed her antibiotic and she recovered after taking the medicine. In her early months, she would get sick from time to time but she would recover within a week. Even though she was weaker than Yen Ling and Sze Hong, she had the best appetite; she would be eating whole day. Though her muscle is softer than her sister, she could still sit up when she was about 8 month old. However, she never acquired the skill of crawling and standing up. All that she could do was rolling around. We thought her development was delayed due to her frequent sickness. A few months later, when Wei Ling was celebrating her 1 year old birthday that we suddenly realized something was really wrong with her. Any normal 1 year old baby can not have such a delay in crawling and standing up. She could not sit up right. She was tired most of the time. More importantly was she had very poor weight gain even though she was eating almost non stop each day. Besides, she would get choked easily. There were few times that we almost lost her due to her swallowing weakness. At that time too, she was sick due to respiratory infection for almost 2 months. Her condition did not get better after taking oral antibiotics. She was finally admitted to Seremban General Hospital for a thorough check. It was then we knew that she had a huge heart & liver. We were scolded by the doctor for delaying her admission as she could not understand why we fail to capture the various symptoms. But when we told her that Yen Ling was quite like her sister too, the doctor was very concern and asked Yen Ling & Sze Hong to be screened. After the screening, the doctor told me that Yen Ling had a similar pattern though her symptom is less severe and Sze Hong was normal. It was then we knew both of our girls are having a type of inherited disease even though we didn’t know of the name yet. It was also then puzzle on Yen Ling health condition that had in our mind finally solved.

While Wei Ling was in the hospital, she would cry every time any hospital staff that wear a white uniform or gown near her. To her, they looked like aliens…Due to her body condition, she will stay at home most of the time. She would take a longer time to get used to her environment. Her saturated oxygen level in the body was poor at about 88% when she was admitted. She was asked to wear the oxygen mask or the nose nasal tube. She refused and finally the doctor had to put her into the square box cut out just right for her head. It’s kind of funny and mother on the next bed was very chicky and called her “aquarium baby”. Guess rarely any baby would want to be put into the box. She was discharged after 1 week as soon as her condition stabilized. Due to the critical heart condition of Wei Ling with EF of around 30%, she was referred to National Heart Hospital 1 week after discharge. Since Yen Ling was showing similar enlarged heart, she got to meet the specialist at the same time. Since then, they were like twins, they went to investigation, any medical check and treatment side by side. At the Heart Hospital, we were told that nothing much could be done on the girls as the root cause of the problem was not at the heart but rather genetic problem. The only thing they could do was to perform heart transplant but the question would be how many could they change? The pediatric cardiologist then immediately referred them to geneticists in Hospital Kuala Lumpur on the following week. We could still remember that we had admitted them on 29 Jun 05 for the investigation. They spent 3 weeks in the hospital for various blood and urine screening. During this time, Wei Ling was very sick after 1st week of admission. At that time too, the geneticists told us that they most likely having Pompe. That was the first time we had ever heard of this disease. So, we started searching through the web for info. Soon, we realized that if they are Pompe, they will belong to Infant type of Pompe. When we looked at the typical life span, it said only 90% lived till 18 month old. Our Wei Ling was about 13 months old then and very sick. We thought we were going to lose her as her condition was really bad in the hospital. Each day seemed so long as great fear was haunting us. We just could not stop thinking if she could make it…It was like we were in the hell…The mental torture was just beyond any words….

There was a short while that we ourselves could not take the facts. We did not know what to do. We were keeping all the info by ourselves, we were so scared that we would just collapse when we open up to others and when others started talking about it. It was the darkest time in our life…But luck was with us. During the 3 weeks investigation, all the required blood samples, urine samples, liver biopsy and muscle biopsy were taken one shot. Both biopsy result indicated that our girls had elevated glycogen both in liver and muscle based on the test done on Yen Ling. Initially, only liver biopsy shall be taken. However, Yen Ling collapsed when the doctors tried to do a local sedation. Luckily the doctors had the reverse drug ready, she was able to be resuscitated immediately. Later, an OT was arranged with all team members carefully informed of her earlier collapsed. The OT went on well as planned and muscle biopsy was done too to increase the investigation reliability, it also speeded up the result finding. It might be a blessing that Wei Ling was sick, else she might not be able to accommodate any biopsy on her body. After getting the muscle biopsy result in 2 days, the doctor had asked us to send both sisters back to KL Hospital for a dried spot blood test to confirm for Pompe. In 2 months times, we were told that both our girls were confirmed to have Pompe. It was the time when we knew of Myozyme, the miracle drug that would save our girls’ life. When the geneticist told us the estimated cost for a year, we almost fainted. Our real challenge had just begun…It was also then we knew we could no longer keep this with ourselves anymore. We started telling our friends and relatives about what happened to our girls hoping to educate and also to get the blessing.

Guess all the kind blessing work. Luck again was on our side. The geneticist was extremely kind and fought so hard for 2 spaces in Expanded Program by Genzyme. The timing was critical too as it was almost time Genzyme tried to pass the drug with US FDA. They were offered the free medication just about 4 months before US FDA approved Myozyme. Even though we got the free drug confirmation, still that was almost when Wei Ling was 18 month old. We were counting days as Wei Ling was getting weaker, we were so scared that we might lose her before the arrival of the drug. The thought of losing her was killing us each day as if we are sitting on the electric chair. We were so desperate yet nothing much could be done except waiting for the ‘day’. In April 2006, after waiting and fighting (to get the legal document to import the unregistered drug) for months; finally the infusion started. We could still remember how hard were our heart beating for the excitement and fear (worried for any negative reaction) the day when we was told for their first ever infusion. She was almost 2 year old when she started the infusion.

It did not take long for us to know the drug was working well. The first little thing that we noticed was Wei Ling would smile more easily. Before that, she hardly smiled; she was gloomy most of the time. Kian Foon always thought that it was her fault as she was not happy during the whole pregnancy. After 2 months of treatment, we noticed Wei Ling showed to have extra energy every time after infusion. She started to acquire a new skill to move around that was bottom chauffeuring. Slowly her legs got stronger and she started to stand up. Initially she needed to hold on to something and her legs would wobble. She gained more and more energy, her legs muscle also getting stronger. Soon, she was able to hold on to chair or sofa and started walking. After 8 months of infusion, Wei Ling finally could walk on her own. We could still remember the happiness on her face when she did that. She was laughing all the way when she made turns after turns. It was the most beautiful moment of her life that she was given a second chance to live on. Besides, Wei Ling weight gain problem solved after the infusion, she started putting on weight slowly and steadily. She gained 2.5 kg within a year, that would never happen if she did not go for the infusion.

While Yen Ling also showed to have stronger lower limbs after the infusion. She could walk up the stairs now without support. Before the treatment, she could not walk up the stairs like nor could she jump or run like her brother. She would need to pull herself up, so she was like a weirdo in her kindergarten. She was in her 5.5 years old when she started the treatment. After the treatment, she started to participate more in the outdoor activities whenever we brought them out to the park. Earlier, she would only be an observer; standing at 1 corner and admiring how the others running and jumping about. Now, she would compete with her brother in all the activities, though she would still lose out but at least she is more willingly to get involved. Now, she could all the 3 actions without any help. We still remembered her 4 years old kindergarten’s sportday. During the 30m run competition, she didn’t know how to run. Later, her teacher and Yee Seng held her side by side and carried her all the way to the finish line. Now, she is going to a normal school for her primary education. Most of her friends do not even know she has Pompe, to them she is as normal as any other student. They don’t quite understand why she was missing in action every 2 weeks. Only 1 of her classmate knows that she is going for infusion as she has always getting help from the boy to jot down her school homework.

Besides, both their hearing improved too. They started with minor hearing problem both of them. Initially, the hearing test was done every 3 months. Seeing their improvement, the frequency had later decreased to half yearly and now it’s once a year. According to the audiologist, their hearing are almost normal now.

More good things happened, not only their hearing power get better. Their liver had strunk to normal size too. The earlier enlarged heart too had strunk down. Wei Ling had showed improved EF especially. That might explain her higher mobility and energy level.

Myozyme is such a wonderful gift for our girls. Without it, we could not imagine how would they be now or if they are still around. We pray everyday that our Malaysia government will continue to fund their medical fee as long as they need it.

We hope more Pompes in Malaysia could be saved by Myozyme.


By Parents of 2 Pompe girls of Malaysia
Lee Yee Seng & Chia Kian Foon
23 Sep 08

My Only Healthy Boy...

My son Sze Hong is the luckiest guy among the three siblings. He is most likely not affected with Pompe, he has got a very solid muscle. We can't be very sure now though. It's only when he has reached his adulthood then the doctor may agree to run test on him. We do not have so much budget for all the patients' family to run the genetic test. I will take for now that he is a normal and healthy kid, else how much worry can I carry?

He is now 6 years old, a smart little fellow but very bad tempered. I think it has to do with Pompe too. Since he is the ok one, I tend to give him less attention as compare to the girls. Me and Yee Seng are expecting him to be more matured but a lot of time he is still just a young boy that wants to have lots of fun. He will play whole day not eating nor napping if his batery is not flat. Then he will be exhausted and fell asleep as soon as his energy level approaching zero. He can sleep in any posture...

He loves all sorts of mathematical games. Now, he is crazy over millionaire. He can be playing this game from morning till night. Then the next morning, he will be asking for the same game again. He has been playing this game for more than a month, he still prefer this game over others. I think he will grow up to love money.

But he has very bad time management, he will defer his responsibility on homework and proper meal over play. Sometimes, he will do his homework till midnight. Sometimes, he will take him 2 to 3 hours to finish a meal. He does not like vegetables most of the time, this food will be kept in his big mouth for a long long time. He will be chewing it over and over again until he get scolded, then only he will start to swallow it...But when it comes to his favorite food, it will take him less than 10 minutes to finish off his meal, most of the time in his ugly mouth full manner.

Wrote in 1 Aug 2008