Rare diseases translated as "penyakit jarang jumpa"...

My husband was reading Malaysian news this morning over the Internet and came across the news about "penyakit jarang jumpa". According to the article, 1 out of 4,000 birth in Malaysia is having these diseases. Wow! That many? This is not rare anymore, isn't it? The kids' disease is one of the categories of the rare diseases, caused by metabolic disorders because of the lack of enzyme GALNS (is short).

In the article, Dr Juliana Lee admits that the treatment for this kind of diseases is very expensive. Adnin and Aqilah are lucky to be here. They are about to test the ERT for MPSIVA during the first quarter of 2009.

Actually we have met Juliana when we were there. She infact has invited us to join the rare disease group in Malaysia. When I go back, I sure will. After all, I can share the experience I have here with the UK MPS Society. It's a very strong organization and very influencial too.

Adnin is due for knee operation in January...

We had an appointment with the doctor at Queen's yesterday and Adnin's knee operation will be held on 27 January, 2009. The anesthetist met Adnin yesterday; asked her if she could move her head to the sides, up and down, open her jaw wide, and stick out her tongue. Adnin managed to do all these without any pain and it proved that her neck is stable and she is able to undergo the operation. They really have to be careful with Morquio kids on anesthetics as their windpipes could be small which could cause complications during operation.

The knee operation that Adnin will undergo, is called an eight-plate procedure. What is an eight-plate procedure? It's actually a small plate in the shape "8" that the doctor will screw it to the bone to depress the growth plate on the inner side of the knees (as Adnin is having knocked knees). It is hoped that by depressing the growth plate on one side, the other side will grow and the knees with get straight by themselves. After the eight-plate is implanted, she would need to be assessed every 3-months to see the improvement - her height hopefully will improve. Since she is due to receive the clinical test for the ERT, hopefully the 8-plate procedure would work and Adnin can have her straight legs! Usually it will take 6 - 18 months to see the effect. If it works, the eight-plate can definitely be taken out.

I read through on this 8-plate procedure over the internet, and it was a success. Just pray that it would work on Adnin.

The kids have appointments on the 29 Jan, 2009, to see whether they need wheelchairs. They will instead have the appointments on the 26 Jan, 2009 as Adnin might need it after the operation before she can fully walk again...

Update on yesterday's check up

We went to Birmingham again yesterday. Thanks to Sanya & family for taking us there; saved us the hassle of going there by train. And of course, save my precious Pound for I would have spent around GPB30 on transport alone. It was raining yesterday at Birmingham and I could imagine how bad it would have been, having to push the stroller in the rain and not forgetting the cold!

We left at around 12.30pm as the morning appointment with the dentist was cancelled. It went smooth; we registered at the outpatient and soon after, the kids got called for measuring their weights and heights. We then get to see the doctor and his team; all the familiar faces that we have seen before.

I'm very pleased to hear that Birm will be one of the centres that will get to try out the Enzyme replacement Therapy (ERT). Adnin and Aqilah are included and next month we would have to go there again for the preparation. They would have to do the walking test and have to be measured again. Just pray that there will be a significant impact of the medicine and the kids can grow as normal.

As per Adnin's knocked knees, the doctor at Queen's have contacted the doctor in Birm and Adnin is due for the leg operation soon. Her legs have gotten worse and she could not walk that far. Usually I would have to carry her back from school. Luckily she is just 14kg! But the occupational therapist said it would be bad for my back having to lift her often. I really hope the the buggy that she is recommending for Adnin would materialise so that I could just push her to and from school.

As for Aqilah, the physiotherapist at Birm would contact the physiotherapist here and Aqilah will be provided with heal support so that her leg would be straight and would not get knocked as Adnin's. She would require a stapling and the doctor at Queen's will see her in the next dysplasia clinic.

On another note, we also participated in the MPS study on dental and the kids' teeth have been checked, including Adli's, the unaffected sibling. The kids' will be scheduled for dental treatment in the next visit.

We also had the chance to see the MPS Society's representative regarding the kids' disability allowances that have been turned down. She will try to appeal for it but can't promise anything as this is the first case that she encountered. I hope the kids would get the benefits as it could at least relief my burden here. My employer has not been supportive in this; the letter that I forward thru' them to KPT is still in a ding dong position. The reason being, there is no more budget for UK. They really get me wrong here as I'm not applying for a new scholarship; just applying to convert my scholarship from Split program to fulltime. I am half way done and only one and a half year to go. And with the recession in the UK now, the money that they paid for my fee (87% from fulltime), is more that enough to cover for the fulltime fee as the conversion rate now is only 5.37 compare to around 7 last time. On this basis, I'm sure whoever in my position will take the opportunity; the people who are against this won't because it did not happen to them of which if it happens to them, they would have taken the same step as I am. Whatever happens, I'm not going to miss this opportunity to treat my kids. As long as there are still appointments for the kids, I'd stay till the end of my study...

Looking at the increasing number of visitors, I'm glad that somebody is reading what I'm writing. I'm sure Aina is campaigning about this and if it happens that the readers are smart kids who are pursuing their studies, maybe this is something that they can look into. Or better still, look into gene correction so that in the future, this thing can be avoided. For Aina, nurture your interest in Biology and hit it girl!

Adnin & Aqilah's special chairs in school

Today is an open evening day at the kids' school. The open evening is for parents to see teachers on the kids' progress so far. They are all doing alright in school. What captured my attention was the special chairs that the school provide for Adnin and Aqilah. This is how Adnin's chair looks like.

Aqilah's one is the same as this one. I'm not able to upload it as it is still in my handphone.

Adnin's hearing aid

Adnin is really thankful to get her hearing back. Yesterday we went to the hearing centre to fix her first hearing aid for her left ear. Further tests were being done before and after the hearing aid was fixed. She looks comfortable wearing it. This is how it looks like...

How does the hearing aid work? Well, behind her ear, there is a mic that picks up the sound and the sound goes through the tube and goes into her ear. At times she would get the hissing sound especially when somebody is using handphone around. There is a volume control button; if she wants to be nasty and doesn't like to hear what you are saying, she can simply turn the volume really down! I hope she wouldn't do it to me.

The hearing aid uses a little battery which lasts around 10 days. Luckily we can get a free supply of batteries from the GP or from the hearing centre.

At night it has to be taken out as well as taking her shower. If it gets wet, there are gadgets supplied to dry up the hearing aid.

One problem is settled. I'm still worried about her knocked knees as yesterday, on our way back from the hearing centre, I have to carry her to the bus stop as she was in pain walking quite a distance. (Luckily Sanya was kind enough to send us there and we did not have to take the bus to get there). The other day, during her class' excursion to Wollaton Park, the other kids had to walk and Adnin get to ride in her teacher's car. While walking at the park, she had to be carried by her teacher as she could not stand the pain anymore. Nonetheless, she enjoyed it and kept on telling us about it over and over again...

Adnin definitely needs an operation...

Following the appointment this afternoon, Adnin definitely needs an operation to put a plate on the inner side so as to prevent the feet from dilating further. The doctor needs to write to Birm's Children Hospital to find out when the neck operation will take place before he can set an operation for Adnin's knees.

This is a recent photo of Adnin's feet.

Aqilah will be seen at Queen's during the next Dysplasia clinic. Her feet tend to dilate like Adnin and I hope they will be stapled soon so that the feet won't be like Adnin's. Sounds scary isn't it - to staple... Well, that is the term they used to describe the procedure...

There are generous people out there...

Adli's friend, Faisal and his mom (Pakistani family) came to visit us yesterday evening with more gifts for the kids. This time, colouring sets for Adli, Adnin & Aqilah; pyjama suits for the girls as well as t-shirts and jeans. Faisal's sisters are Adnin and Aqilah's classmates. Just few days after Raya, she handed them two full bags of Primark clothings which I certainly cannot afford to buy!

There are generous people out there...she even said if I ever need anything, don't hesitate to let her know...I don't think she is aware of the kids' condition. If she knows, Adnin & Aqilah would be really pampered. Their big sisters are already jealous of them for getting so many things :-) Sorry Sis Aina & Aini if you happen to read this...

Another appointment next week...

Adnin had an appointment at Queen's Medical Centre this afternoon. It seems that we have to go there again next week as she needs to be x-rayed thoroughly before any decision can be made.

So far, she is progressing well; she managed to fast for the full month during last Ramadhan. Her father tip her 20p for every day she was fasting. Her appetite was also good during Ramadhan as she eat much more during breaking off fast and during early meal before fasting starts.

Red coloured hearing aid - a little funky don't you think?

We just got back from Ropewalk Hearing Centre near town, guess what, Adnin has chosen red colour for her hearing aid with glitters on it - sound funky isn't it? Well, the audiologist who made the mould for her said, that would be a motivation for her to wear the hearing aid.

She had another hearing test and it's confirmed that she would need hearing aid for both ears. At the moment, she had the mould done on her left ear as the right ear has ear wax that needs to be cleared first before the mould can be done. Few drops of earex or olive oil will get rid of the ear wax...

The next appointment to fix the hearing aid would be on 23rd Oct, 2008. Tomorrow there will be another appointment at Radford Health Center. Oct 6 would be at Queen's Medical Centre for her knocked knees which I'm really looking forward to. Her knocked knees have gotten worse and she feels pain when she walks quite a distance.

Some exciting pictures during the conference...

Adnin - butterfly and Aqilah - princess... during the little miss makeover...






With their volunteer, Emma.




Actions during lunch and Dinner...

Posing before dinner...

They get to go for bowling the next day...

Other pictures...

Radford Primary is really supportive...

I went to see the Admin teacher at Radford Primary this morning to discuss the precautionary measures and things needed for Adnin and Aqilah to feel comfortable in school. Since I'd be staying here till 2010, it is worth the investment and the teacher said she would request for more funds to accommodate this. Among others, Adnin & Aqilah will have special comfortable chairs, ear plugs for them to be used during swimming, play area that is quite secluded from the rest so that they won't be knocked down, utilising key stage 1's toilet and so on.

I'm really touched of how caring they are...

The kids a back in school

What a relief, the kids are back in school :-) This new term they are having a new head of school and the drastic change that the school encountered is the kids have to wear uniforms! This morning, Adnin & Aqilah look really great in their uniforms - polo shirt, grey pants and school sweatshirt. One problem, the sweatshirts are too big for them! This is one of the challenges of morquio kids. The smallest size that the school has, is still too big for Aqilah especially. This morning, one of the parents was commenting on Aqilah, 'ahhh so cute...'

Adnin is in Year 4 while Aqilah is in year 1.5, in that the class will cover some of year 2's curriculum. Since there are many students for year 1, they have two classes; the regular one and the extra-regular one. Aqilah is in the extra-regular one - it's a small group consists of smart kids I guess. If not they would not be able to learn the year 2's curriculum...For record purposes, there are 238 students this year.

I'll be seeing the teacher that is involved in admin tomorrow. I gave her the booklet on Morquio this morning and she wants to discuss it further. Probably as a precautionary measure for the kids. How nice...

About Keratan Sulphate (KS)

During the conference, Dr Tomatsu directed us to the international Morquio web page at http://www.morquio.com/. I had a chance to look through and below is more information on keratan sulphate in a layman term :

KS is sort of sugar chain. Morquio patients can not digest KS since one of the enzymes to digest KS is missing in the body. Therefore, KS is accumulated in the body, especially, in the cartilage (bone) and eye cornea. The stored KS will destroy the cartilage layer (growth plate). Because of that, Morquio patients have a lot of signs and symptoms related to the bone.

When I was in Malaysia, I did try to give the kids growth hormon. It's watery type and I still have it in my cabinet and surely it didn't do any good. One way of wasting my money...

It will be unlikely to have a huge benefit by using the growth hormone since Morquio patients have sufficient growth hormone in the body. The fundamental issue of Morquio disease is caused by destruction of the growth plate with the accumulation of keratan sulfate in the cartilage cells. Therefore, we have to clear such storage material. Some patients have used the growth hormone in the past. However, till now, we have not noticed the huge benefits have occurred.

I have already gotten Dr Tomatsu's email address and will email him in a short while...

Expert meeting on Morquio disease - very informative

Jerry and Dotty picked us up at 8.00 am using a 14 seater mini bus. We then headed to Wolverhampton to pick up another Pakistani family; a mother and two boys who are affected - Haide 15, and Ali 10. They are wheelchair bound; Ali can still walk a short distance, but Haide can only crawl at home. Haide has had cervical fusion last December 2007.
We reached Hilton Northampton close to 12N, registered for the conference and had our lunch. The meeting started at 1.30pm. Before that, we dropped Adnin and Aqilah at their volunteer, Emma Martin. The girls had 'Little Miss makeover' session whereby they were pampered with face painting, nail painting, nail stickers, individual make over which include hats, jewellery, hair extensions, crown etc. Adnin chose to be a butterfly and she got her wings too, while Aqilah chose to be a princess with her crown and so on. On Saturday, they went for bowling in the morning, and Mad science session in the afternoon. What a weekend for the kids and they really enjoyed themselves!

For us parents, we have series of talks from doctors, researchers, physiotherapy, surgeons and so on, as well as personal experiences of individuals/families who are affected by Morquio. The most interesting part were talks from researchers of the ERT. Currently there are two companies that are working on the ERT for morquio disease and they are at the stage of doing the clinical test for the drug. The clinical test would mean to test on human and the first phase will start in September, with a small number of children. There will be six international centers that will be involved and I really hope that Birmingham Children's Hospital will be one of them. And prayers for this Ramadhan would be for Adnin and Aqilah to be chosen for the clinical study, which means they get to test the ERT first. The criteria that they are looking for - children age 7 - 15 who are able to walk a short distance and able to understand instructions. Adnin and Aqilah have done the six minute walking test earlier on I certainly would not mind making frequent visits to the hospital to get them measured etc.

There were around 200 delegates for the conference. It really is painful to see the kids affected with morquio. Some of them are badly affected that they are wheelchairbound since the age of 10 or earlier. I met a Pakistani friend whose daughter have to be on wheelchair since the age of 6. Being in the UK, they are equipped with electric wheelchairs and they went on here and there like lightning! So fast and if you are late, they certainly can honk you...

Transport provided...

I got back from Montreal and glad to know that somebody will pick us up for Northampton. We just have to be ready at 8.00am in front of our house. How nice...

I'm really looking forward to the conference. Hopefully they are ready to release the ERT...

Extra ordinary people - on Five

We watched extraordinary people last night on Five and this time the story was on little people. It was a good documentary; showing the little people community mostly affected by genetic disorder. Although they are little, they really have a good life. Some even got married and have normal kid.

The world record of the smallest man on earth was a man from Mongolia, 19 year old Bao. He is only 2 feet 5 inches tall. Adnin and Aqilah are much taller than him - currently at 2 feet 11 (Adnin) and 2 feet 9 (Aqilah). They were kind of sad to watch the documentary as I presume they were thinking that their lives would be like the little people shown on the documentary. I really hope that the ERT will materialized and they can go as high as 4 feet...

The kids are down with fever...

It was a good decision to postpone the appointment as Adnin is down with fever today. Aqilah had it yesterday, vomitted a few times and was feeling uneasy last night. When she gets better, Adnin is taking her turn :-) It has nothing to do with Morquio; I guess they got carried away and were really over excited during our family day last Sunday. Certainly, the body needs rest. At the point of writing, Adnin is infront of the computer already, feeling better and managed to YM me.

Another hearing test?

Adnin received an appointment at the ENT tomorrow, Aug 5, 2008 @ 9.30am. Too short a notice; I called them up this morning asking whether it's for fixing the hearing aid. Opps, not quite, another hearing test it will be...maybe thorough one.

It's summer holidays and we certainly cannot get a cheaper rate for the train tickets. The best that I could get with the family railcard (discount card) was around £19. In the end, I emailed them to reschedule or better still, have it done here in Nottingham. It's an 'inflation' for me at this moment as my allowance for the next three month is nowhere to be seen :-) Therefore, where ever I can save, I should save...

Is your child continent?

I was filling up the children's information sheets for the Morquio conference as they need information about the children for them to be able handle them for their social programme. There was a question as saying, 'Is your child continent? Yes/No.' The 'continent' that I know is the 'landmass' ie European continent, Asian continent as so on. I looked up the dictionary.com and came across another meaning of continent - able to control urinary and fecal discharge :-) And of course the answer is Yes for Adnin and Aqilah. But they need someone to take them to the toilet as usually the fireproof door (or rather the access door to the toilet) is heavy for them to open or the handle might be too high for them to reach.

There is another term that I need to look up to - 'can they weight bear'. It meant, can they stand bearing their own weight. Adnin can walk a short distance as her knocked knees cause her pain when she walks quite a distance. Her teacher even suggested that we request the school to buy a pushchair so that somebody can push her on her class field trips. As for Aqilah, she can easily stumble and fall; and as the result, she needs her hand held when walking so that she will not stumble and fall. I cannot forget the day that she ran as we approach our home and stumbled. Her head hit the pavement and was bleeding quite badly. Luckily I was not that panicked and able to handle the situation well.

Expert Meeting on Morquio Disease (MPS IVA)

How fortunate I am to be invited to attend the above meeting! It will be held in Hilton Northampton on 29/8 - 30/8/08. Being members of the MPS society, we are only charged £65 for the conference. The knowledge gained would be beneficial for us. Here are some highlights of the event :

• Understanding aspects of Morquio
• Clinical management of Morquio disease
• Living with Morquio disease
• Research and future treatments

There will be life testimonials or rather personal experiences of children affected by Morquio who have done treatments like cervical fusion, knocked knees stapled, surgical intervention of the lower spine and so on. I'm actually looking forward to the information on the Enzyme Replacement Therapy that they are coming out for the disease.

The conference is of course for the parents; the children will have their own social programme. There will be Gala Dinner for professional, familes and volunteers. Of course there will be halal food...

Is there any MPS case reported in Malaysia?

I have been in contact with the doctor that looked into Adnin's case back home. According to him there are cases of MPS reported in Malaysia but he did not specify the type of MPS. There are even cases of 3 siblings in a family that are affected with MPS. What a pity... He is aware of the Enzyme Replacement Therapy (ERT) and admits that it's expensive and funding is not available yet for MPS in Malaysia.

They have a society to look into this sickness called Malaysian Rare Disorders Society (MRDS) and the website is http://www.mrds.org.my/ which I'll surely join when I'm back.

I'm sure there are many more cases which are not reported of which I'm sure with proper treatment, the lives of children affected will be much better...

A young lady having a hearing of an old lady...

We went to the hospital yesterday for an appointment with the ENT specialist. The appointment was at 3.00 pm and we were quite early and registered at the outpatient at around 1.00 pm. To my surprise soon after, we got to see the Doctor.

Aqilah volunteered to be checked first as Adnin was a little bit trauma over the room the she had her infected ears vacuumed (or actually cleared up) during the last visit. According to the doctor, Aqilah is having a glue ear or a scientific name for it, otitis media. Ototis media is an infection or inflammation of the middle ear usually caused by a viral or bacterial infection. This can stop the eustachian tube from opening as it should, preventing air from reaching the middle ear. When this happens, the middle ear can fill up with fluid that can become thick, like glue. The build up of fluids in the middle ear reduces the movement of the eardrum and ossicles, and so causes a loss of hearing. Children are more likely to get glue ear. Most will get better without treatment and their hearing will return to normal.

The decision for Aqilah is that we will 'wait and see' and the doctor will see her again in six months time. Hopefully her hearing will return to normal naturally...

As for Adnin, another hearing test was done as to reconfirm the earlier one which was done while she had the ear infection on her left ear. Her hearing is poor and the doctor refers her as a 'young lady having a hearing of an old lady'. What a pity... There was a hole in her eardrum resulted from the infection she frequently had. The decision made was that she would require a hearing aid. This would be done here in Nottingham as we need to frequently visit the audiologist to get it properly fixed.

My little pirates!

Although they are as they are, Adnin and Aqilah participated in the Radford Carnival last Saturday, 12 July, 2008. They got up very early in the morning, excited to put the costumes on and counting minutes to go for the carnival. This is their post just before we left for the carnival and the picture is specially for Naim, their friend who was eager to go for the carnival but did not get to go as they went back to Malaysia last May. I hope Nik and her family gets to see the pictures!

They were fine in the beginning...parading all the way through Hartley Road, Radford Boulevard, and Ilkeston Road.

Half way through, one of little pirates surrendered! I have to take the toll and have to carry her all the way to the finishing line...It was a fun experience although I prefer the last year's carnival as the band was good and noisier than this year's one. The carnival ended at John Carroll Leisure center where they had booths selling things, games and so on.

In front of the carnival site.

Aqilah is afraid of this robot!

Can Morquio's kids hear very well?

It is really irritating when I talk to Adnin and Aqilah and they never seem to respond. I sometimes need to yell at them to get their attention. Come to think of it, it's not their fault. Some degree of deafness is common in individuals suffering from MPS IVA. It may be conductive deafness, nerve deafness or both (mixed deafness) and can be made worse by frequent ear infections. It is important that individuals with MPS IVA have their hearing checked regularly and for problems to be treated early to improve or maintain the ability to communicate and learn.

Adnin & Aqilah's hearing have been checked twice already; first time here in Nottingham and second time in Birmingham. The result of the test confirmed that they are struggling to hear things. They have another appointment with the ENT (Ear, Nose & Throat) this July 22, 2008. Adnin suffered from ear infections and it gets better with the last ear drops that she got. With the school coming to an end, and her weekly swimming activity stops for a while, I hope she wouldn't get the ear infection again...

When people can't hear very well, they tend to speak loudly. My house is sooo havoc like "pasar malam" when everyone is 'live n kicking'. I hope our next door neighbours won't complain...

Friends who care

We bumped into Dr S while shopping for our provisions at Medina supermarket this afternoon. Thank God we have friends around us who really care. Dr S works in the hospital that Adnin and Aqilah is receiving treatment and coincidently, he became our reference point. The last visit to the hospital, he came to see us and reassured that everything is going to be fine. The doctors there have lots of experience with morquio kids and with lots of prayers from families and friends, Adnin and Aqilah will have better lives.

Reference letter about the kids

I recently requested a reference letter about the kids as my husband needs it to apply for leave extension. Here is an extract of the letter :

"Though both these children were diagnosed in 2008, they have been born with this condition and this condition is likely to restrict their life span. Morquio Syndrome, type A, occurs due to an inherited defect which affects the chemical processing of large chemicals within the cells of the body. Affected patients with Morquio Syndrome type A therefore have severe bone and spine deformities and have a very short stature. Several organs are involved. This can lead to a very poor quality of life and the life span can be shortened significantly (usually less than 20 - 30 years at the most) Patients usually lose mobility before the age of ten and will be fully wheelchair bound. They are likely to require several surgical procedures during their life time to protect their spinal cord and correct bone deformities. They are also likely to require treatment for recurrent chest infections and at a later stage support with breathing apparatus"

I sobbed my heart out over reading this especially the part on "restrict their life span". I really hope that the enzyme replacement therapy will materialized and the kids will live longer - long enough to take care of us during our old days...

Any other name for Morquio?

When I forward this link to my friend, he was asking whether there is another 'local' term for this disease. Ehmm, a very interesting question and I guess the answer is no. It would still be called MPS IVA or Morquio disease/syndrome. As I said before, Malaysian locals would refer it as 'kenan'. I have yet to find out how many cases have the Malaysian doctors found out about this MPS IVA. I know there are cases but I'm not sure what type the cases and how many there are. I am pretty sure there are similar cases in Malaysia but typically, they won't come forward to get it diagnosed.

On another note, Adnin was really excited this morning as one of the school teachers is willing to take her to Albert Hall in Nottingham by car. I'm sure she's going to have fun singing with the rest of Year 3 pupil. One good thing about schools here, they are very supportive and did not look down on people with disabilities. Adnin and Aqilah have special chairs in school to keep their postures in a proper sitting position.

Heart murmurs

Aqilah was detected with heart murmurs during the initial investigation. She has been referred to Queen's Medical Centre for further investigation. In April 2008, the doctor confirmed that it was an innocent murmur which is quite usual for kids. However, he noticed that the valve was a bit dilated and needs further investigation. 'Heart murmurs' will occur if the valves become damaged by stored mucopolysaccharides. The heart valves are designed to close tightly as blood passes from one chamber of the heart to another in order to stop it flowing back in the wrong direction. If a valve is weakened or changed in shape it may not shut firmly enough and a small amount of blood may leak back causing strain of the heart.

The kids had heart scanning during the last visit (13/6/08) at the children's hospital, and the doctor confirmed that their hearts are so far ok. What a relief! The last visit to the hospital was quite a hectic one; after the heart scanning, the kids had MRI. After that they had hearing test as some degree of deafness is common in individuals suffering from MPS IVA. Adnin had ear infection on her left ear and has been treated on the same day. She also had another MRI scan to confirm that she needs the cervical fusion.

Since January this year, we have been to hospitals for a variety of check ups. When the kids have been referred to Birmingham, we have to take the train to get there. We tried driving once, but it was not worth as the petrol and parking costs were expensive. Two hour parking near the hospital costs £5. Usually two hours is not enough and we usually spend almost a day at the hospital. Train rides to and fro cost around £25. Don't ever think of converting it to Malaysia ringgit!

More about cervical fusion...

We recently joined the MPS Society - Society for Mucopolysaccharide Diseases. They have a booklet about Morquio disease for children which gives an interesting information about Morquio's. Adnin had a read and since I've got two copies of it, I plan to give one to the school so that her friends at school would be able to understand her condition. Here is an extract from the booklet.

"Morquio's is also the reason why my neck is not as strong as other people's. When I was younger I had an operation called cervical fusion to make my neck stronger.

For a few months after the operation I had a metal frame around my head which was attached to a plastic jacket. It was a little uncomfortable to wear at first, but I quickly got used to it and even wore it to school. Everyone called it my halo! Before long it was time to remove my halo and jacket because my neck had become stronger.

I still have to be careful if I'm in a crowd that I don't get knocked by other people and I never do somersaults or trampolining as my neck would get hurt."

What is cervical fusion?

We went to see the Doctor again on 13/06/08; sad to say, Adnin would need an operation called cervical fusion. The week before, the kids had MRI scan and based on the MRI, they found that there is evident that the spinal cord has been tampered. The piece of bone called the odontoid (that is sticking up between the second and first vertebrae) fails to develop. As the result, the spinal cord is insufficiently protected. Major worry is that compression or squeezing of the spinal cord could lead to sudden death or paralysis after a fall, but, more often, chronic damage leads to a gradual loss of power in arms and legs. At the point of writing, Adnin is okay in terms of movement of the arms and legs although she could not walk that far. Recently, she asked permission to follow the rest of the year 3 pupils to walk to the Albert Hall in Nottingham town. I wrote a note on the permission slip that she could go if someone could take her by car. Otherwise it would be too tiring for her to walk that far.

As for Aqilah, they found that there are traces of mucopolysaccharide build up around her spinal cord. I don't know how severe it is. The doctor is concentrating on Adnin on this matter; Adnin had another special CT scan and we have yet to receive the result.

How do they look like?

Here are their pictures taken at Mundy Park, Derby recently. Their features are about the same that people always thought that they are twins. I'm keeping Adnin's hair short so that they don't look that much alike.


Some common features of Morquio children - the neck is very short, the bridge of the nose flattened. The hair is not affected. Clouding of the cornea caused by storage of mucopolysaccharides is seen in children and adults with MPS IVA. Adnin and Aqilah had their eyes checked at Queen's Medical Centre last March and their visions are alright. I've been feeding they carrots - hopefully they won't turn into rabbits!

As for intellectual ability, there is no storage of mucopolysaccharides in the brain of individuals with MPS IVA and therefore intelligence in not normally affected. They are excellent in their studies and always in a good book - their names are always announced in the school assembly for being good...

How is Morquio disease inherited?

I remember during the old days, when something unsual happens to the baby, our old folks will tell that (in malay language), "budak ni kenan ni..." True enough, "kenan" is a shortform for "keturunan". MPS IVA is an autosomal recessive disease whereby both parents must carry the same defective gene and each pass this same defective gene to their child. I just could not believe that me and my husband are carriers. Genes come in pairs whereby the good pair will be able to correct the defective one. Our first three kids must have inherit either both good pairs or one good and one bad but the bad one is corrected by the good pair. Sounds confusing isn't it? Well, just keep in mind that my two elder daughters and my son are all well and healthy. They could be carriers too and that force me to become a choosy mom-in-law; I'll have to make sure that their partners would be somebody who is really from a different background...

Will there be more? Certainly NO! Five is enough and besides I'm over the age limit already. It's now time to enjoy each others' company. As for life expectancy, less severly affected have been known to live into their fifties, sixties and even seventies. With medical advances and better management of the disease, life expectancy is improving. I heard that the doctors and scientists are working hard to find effective treatments for MPS IVA. Enzyme Replacement Therapy (ERT) for MPS IVA is being developed. Hopefully the ERT will be out soon before Adnin and Aqilah have to go for any major surgery like cervical fusion and so on...

Ever heard of MPS?

Never heard before...PMS women should know - Pre-menstual syndrome... but MPS seldom people know about it. Well, MPS stands for Mucopolysaccharidos. Such a long name, I wouldn't care about it until my children got diagnosed by MPS type IV A, which is also known as Morquio Syndrome. First time I heard of it, reminds me of mosquito but the sickness is not related to mosquito at all. It is a mucopolysaccharide storage disorder , taken after the Dr Morquio, a paediatrician in Montevideo, Uruguay, who described a family of four children affected by the condition in 1929.

The doctor at Genetics Clinic, City Hospital confirmed the diagnosis on Adnin & Aqilah on April 15, 2008, a day before Adnin's 8th birthday. How would one react to it? In actual fact, the doctor asked me what I felt about it. Well, I was very calm and steady, knowing that whatever happens is fate and the fact that I know about it, makes things better as I can really take good care of them. What actually causes Morquio disease? Mucopolysaccharides are long chains of sugar molecules used in the building of bones, cartilage, skin, tendons and many other tissues in the body. Muco - refers to the thick jelly-like consistency of the molecules, poly - means many, and saccharide is a general term for a sugar molecule. In the normal life there is a continuous recycling process of building new mucopolysaccharides and breaking down old ones. This process requires a series of biochemical tools called enzymes. Adnin and Aqilah lack this enzyme - galactosamine-6-sulphate sulphatase, essential in breaking down of Keratan Suphate. Incomplete broken down of Keratan Sulphate remains stored inside parts of the cells called lysosomes. The lysosomes become swollen and disrupt cell functioning causing progressive damage. There was no sign when they were born as the symptom start to appear as more and more cells become damaged by the accumulation of mucopolysaccharides. They were born normal - Adnin was 3.25 kg at birth, while Aqilah 3.3 kg. Adnin is now around 14 kg while Aqilah around 12 kg. Seems like I don't feed them well, in actual fact, even if I feed them the best food in the world, when their body lack the enzyme, they will still be small as they are. One advantage of them being small, any bus or train ride, they ride for free!