Lets Talk About metachromatic leukodystrophy (MLD)

Posted on: May 4, 2015


It never ceases to amaze me how acronyms can shrink major things into a small simple word.  Often we forget what the letters stand for and only know what they mean.  MLD is tiny little acronym, that I have become very familiar with over the past few months, in fact I had never heard of it before.  Now I know that it stands for metachromatic leukodystrophy and its effects are far from tiny.

In a nutshell MLD is a genetic disease where the sufferer lacks an enzyme, that is also known as (ARSA), which breaks down the build up of sulfatides in the central nervous system.  The build up of sulfatides results in damage to white brain matter and the destruction of the myelin sheath, preventing the brain from communicating with the rest of the body. The disease progresses like a thief in the night, stealing away movement, speech, sight, hearing and eventually leading to total paralysis and premature death.

There you have it – the scientific explanation of MLD, but what does it mean if your child is diagnosed with this rare condition? I should imagine that it is a little bit like being stomped on by a herd of wooly mammoths, then feeling like a petrified rabbit staring at a huge articulated lorry coming towards you – and that is just the start.  Parents whose children are diagnosed with MLD are caught in a whirl wind of shock and disbelief and are so busy trying to come to terms with the disease and the emotional turmoil that by the time they feel ready to talk about it, their child has already been taken away from them and all they feel is shock and grief. By using all of the empathy I possess – I could never truly understand what it is like to watch your child disappear before your eyes.

I am not exactly sure if the disease progresses at the same rate for everyone who suffers it, but from what I have witnessed it doesn’t mess about and can paralyze a child in less than a year, after they show the initial symptoms of the disease.   Diagnosing the disease early is difficult because the sufferer tends to develop behavior traits that are similar to ADHD and their naughtiness causes health professionals to look in the wrong direction to find out what is wrong with them.  Children are not routinely tested for MLD so early diagnosis tends to only occur if a sibling has already been affected.

Remember the science lessons where you learned about genetics in terms of eye colour and peas with a funny mark on it?  Well getting MLD is exactly the same as that – it is determined by two parents carrying the faulty gene and literally throwing the wrong dice.  If the odds are against you – your child will get MLD but if you have a lucky strike then your child may just be a carrier.  There is nothing that parents can do at the moment to check if they are at risk of having a child who will inherit MLD.  Support in the UK is very small and the profile of MLD needs to be raised and government agencies pestered so that something can be done about it.

If your child is diagnosed before the onset of the disease there is the possibility of gene therapy, which is quite experimental but fingers crossed it does the trick.  However this ground breaking treatment is not available on the NHS and costs a packet – far more than any family can afford.  The only way we can raise funds for this type of treatment is by raising awareness of MLD, this is a job that cannot be left to parents of children with MLD because they are too busy dealing with the disease and spending as much time with their children that they can.

If you have been affected by MLD and are interested in helping to raise its profile please feel free to leave a comment or visit these site dedicated to MLD.

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May 2015

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