Friday, 19 December 2008
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.
Tuesday, 9 December 2008
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...
Saturday, 22 November 2008
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!
Wednesday, 12 November 2008
Aqilah's one is the same as this one. I'm not able to upload it as it is still in my handphone.
Thursday, 23 October 2008
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...
Monday, 13 October 2008
Friday, 10 October 2008
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...
Tuesday, 7 October 2008
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.
Wednesday, 24 September 2008
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.
Friday, 5 September 2008
With their volunteer, Emma.
Actions during lunch and Dinner...
Posing before dinner...
They get to go for bowling the next day...
I'm really touched of how caring they are...
Thursday, 4 September 2008
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...
Wednesday, 3 September 2008
Monday, 1 September 2008
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...
Tuesday, 26 August 2008
I'm really looking forward to the conference. Hopefully they are ready to release the ERT...
Wednesday, 13 August 2008
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...
Tuesday, 5 August 2008
Monday, 4 August 2008
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...
Friday, 1 August 2008
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.
Thursday, 31 July 2008
- 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...
Monday, 28 July 2008
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...
Wednesday, 23 July 2008
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.
Thursday, 17 July 2008
Wednesday, 9 July 2008
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...
Sunday, 6 July 2008
Wednesday, 2 July 2008
Tuesday, 1 July 2008
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.
Friday, 27 June 2008
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!
Thursday, 26 June 2008
Wednesday, 25 June 2008
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.
Tuesday, 24 June 2008
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...
Thursday, 12 June 2008
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...
Wednesday, 11 June 2008
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!