Friday, 27 June 2008

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!

Thursday, 26 June 2008

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."

Wednesday, 25 June 2008

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.

Tuesday, 24 June 2008

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...

Thursday, 12 June 2008

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...

Wednesday, 11 June 2008

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!