Rare Disorder & Medical Genetics Conference

I set up this blog four years back just to give awareness about Morquio, and I can't believe that I'd be giving a talk to share experience on raising children with rare disorder at a conference. One of the organizers of the conference actually found this blog and contacted me inviting to be one of the speakers. Why not eh? The topic is really close to my heart and I'm sure the words will flow out smoothly from my mouth.

The kids are doing fine; they are having their mid year exam this week and will have their school holidays for two weeks beginning end of this month. There is no appointment coming, the closest one would be in July with the spine specialist. On top of seeing the specialist and get conventional treatment, we brought the kids for an alternative treatment too. So far so good, the kids have good appetite and show a very positive attitude to heal and grow bigger and taller too, I hope :-)

We have been invited to the launching of Malaysian Rare Disorders Society’s (MRDS) book “Rare Journeys of Love” this weekend. I can’t wait to get one. I recently read a book “Atiq Wazif – Satu Anugerah”, a very touching real story about bringing up a special child, went everywhere (China, Middle East and the USA) to get treatment for the special child. I’m just thankful that I wouldn’t have to get that far of an effort to raise Adnin and Aqilah. They are pretty independent in managing themselves that we only have to monitor and help them a bit, here and there. The only challenge is to answer their questions of why they are like that and when are they going to be cured. Children with MPSIVA have normal intelligence, they think like children of their own age. I guess I have to play more on psychology to instill positive attitudes in them, so that they can be successful like others even though they are physically small.

Corrective surgery

The kids had appointments with the genetics doctor and the orthopedics yesterday. Sad to say, the clinical trial will not be conducted at the hospital. Don't know whether the hospital is not qualified as a center or probably the proposal has not been approved somewhere up there. Oh well...

In the meantime, we have to concentrate on the corrective measures to ensure that the kids have quality lives. We had the opportunity to see the specialist in child orthopedics at the hospital and have planned some corrective surgeries for the kids. From the recent x-ray, Adnin's 8 plate screws need to be adjusted because it has reached the maximum dilation. She may have to undergo surgery to have them fixed at proper position. As for Aqilah, her knocked knees have gone worse and she also have quite tight hemstrings that need to be loosen. We have planned for the surgeries to be held during a long school holidays which will be in November.

The kids also need corrective surgeries at their hips because their bones are a bit out of the sockets so as to prevent dislocation.

As for the spine, the MRI results showed the cervical compression which is normal in Morquio kids. They are referred to the spine specialist for further investigation. So far, the kids have not shown any abnormalities or feel any pain with regard to their spine. As long as they are okay, I’d prefer for them not to have any surgery at the spine coz’ the area is very delicate. I’m happy with their condition now, and can’t bear the thought of them being bedridden whatsoever…

Adnin and her new glasses

The kids had an appointment with the ophthalmologist or eye doctor last week. We made it to the clinic after so much hassle to locate it, ending up not seeing one. Why? Because the clinic was so packed even queueing on the special lane (OKU), we had to wait for around 26 patients!

We ended up visiting the private optometrist as Adnin was complaining that she can't see very well. Once checked we found out that she has a lazy eye, with high astigmatism, around 150 and 200 (can't remember which eye). The reason being is that her eyeball is not properly shaped. Her spec's power is only 50.

We went to pick up her glasses last night and she looks good on it. She feels good too, not having to rub her eyes every now and then. Today is her first day in school with the glasses. Quite eager to find out how her friends respond to it.

Aqilah is looking forward to getting eyeglasses too but I told her she will have hers in two years time. In the meantime, she has to eat lots of carrots like rabbits :-)

More and more appointments

The kids have to attend more and more appointments - dental and ortho on 12/1, MRI on 24/1. Actually they had rehab on 13/1 but had to miss it. We have decided that those not really important, we have to skip it. Too many appointments will certainly disrupt their schooling. Moreover, we have to plan our leaves too because everytime we go for an appointment, we certainly need to take leave.

During the recent visit for MRI, the kids were scared to go into the 'tunnel'. No choice, I have to accompany them. Don't know how much radiation has got into me. Will it make my cancer worse? I hope not. It was really dreading to listen to the MRI noise, I brought in my book to read while holding their feet :-)

The next appointment will be for skeletal survey. We have seen the orthopedic doctor on the 12/1 and in order to see the progress of the bone, they need to be x-rayed. At this point of time, both of them can walk a small distance. The father has to carry both of them when we go quite a distance like walking to the nearby medan selera for lunch (during hospital appointments). Luckily they are quite light, total weight is around 25 kg.

Of course, wherever we go, people will ask about them, how old are they and what causes them to be like they are. As some point, I get tired of answering. Probably I should write a book about them so that whenever people ask I can just sell the book to them :-) Not a bad idea eh!

Updating again

I have been neglecting this blog and feel like updating it following the appointment that we had with the pediatric institute yesterday.

Glad to know that the hospital has been considered as a center for the third clinical trial of the enzyme replacement therapy for MPS IVA. The second phase has shown a success and they are now going for the third phase and this will include 150 hospitals worldwide.

We are ‘just in time’ – including the kids, there are only 5 kids affected with Morquio Syndrome at the hospital. I bet there are many more out there, it’s just that they don’t go to the hospital to get it diagnosed.

As usual, the kids have to go through all the check ups again like they had in the UK. They had their echo done yesterday as well. The results showed that there are leakages at the left chambers, in a layman term, the door did not close perfectly. For sure, they are not fit for diving :-)

The kids had their dental check up yesterday too including x-rays of their teeth. This is a new case for the dental department and true enough they attracted lots of attention at the department. Adnin and Aqilah were like celebrities, they even had their photos taken.

We then fixed appointments at other departments – ortho, MRI, Rehab and Opthalmology. It will be good for the kids but what I dread about it is that the hospital is located at the center of town and for sure we have to struggle with the traffic jam and parking…

Small but smart!

Aqilah receiving her prizes for scoring highest in Math & English.

Aqilah receiving prize for being the first in class.

Something to be proud of - even though she has just started school, she is able to score well in her class.

Adnin didn't do well this time, but with her strong courage, I'm sure she will get some next year.

They are enjoying their holidays now; the first week will be spent at their grandmother's house in my hometown.

Adnin & Aqilah's updates

Right after Raya, the kids have gone to school. They look funny in their school uniform as they are big for their sizes. I didn't have time to tailor made the uniforms, hence I bought the smallest size available.
The school is almost over as they have another week to go. Next Wednesday, Aqilah will get her prizes for being the first in her class, and for scoring highest in Mathematics and English throughout year 1. She is really a bright girl, even though she did not study for the lessons, she was able to score during the end of year exams. Even her friend envied her, and didn't want to befriended her when Aqilah scored higher than her friend.

Adnin is still adjusting and since the syllibus were harder in Year 3, she didn't score very well. I don't blame her, instead, encourage her to do well next year.

As for treatment, the kids are on ceragem everyday. This is how she looks on it. They have created a timetable for themselves, just to note that who would go first; if today Adnin is first, the next day, Aqilah would go first.



These pictures are during Aqilah's 7th birthday, infront of our house, way back in September.