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.