Saturday, 27 September 2008

Pelizeaus Merzbacher Disease - PMD

Today Sam & I have been to Bedford to attend a PMD support group. (Ben & Julian have travelled to Barnsley to watch Norwich City try and play football !)

The PMD group meeting was organised by Peter - this is the second meeting, unfortunately we couldn't make the first one. It took us almost 2 hours to get there but we had a good time chatting to families whose children are affected by PMD.

Sam hasn't got PMD, but it was thought he may have it a few years ago - he does have a severe lack of myelin in his brain, but all the genetic testing for PMD has come back negative. So he has some sort of leucodystrophy, but we don't know which one yet !

Leucodystrophy is a genetic defect (a problem in the genes) affecting the myelin, the protective covering around the nerves in the brain and spinal cord. The myelin acts like the covering around electrical wires. It helps the nerves work and send messages from the brain to the body at great speeds. When the covering around the nerves is damaged, the brain and nerves are not able to send the signals to the body very well. There are 10 different chemicals that make up the myelin. And there are many different types of leucodystrophies. Each kind is related to how only one of the chemicals in the myelin works.


Amanda said...

Hello! My family is friends with a PMD child and his family, and were attempting to raise funds for needed equipment. I would love information if possible as to where the PMD support group met (meets) etc. to pass along to his mum. Andy is a resident of Norwich, UK. I am new to blogging as well as Leukodystrophy and PMD so any information would be wonderful. Thanks so much in advance!

Caroline said...

Hi Amanda - we are in Norwich too !

The annual PMD meet was in Bedford, the person who organises the group is Peter and the email is

If you need any more information please get in touch.

PMD Peter said...

Hi Amanda,
We already know of another family in Norwich. They have 2 affected boys who are in their late 20's early 30's. I suspect it is not the family that you know.
Any new affected families are welcome.

Amanda said...

Thank you for the information! I just realized that I mistakenly said they live in Norwich, while in actuality they are from a small village in Norfolk, although relatively close to Norwich. I am passing along this blog site to his Mum. We are selves are fairly new residents of the UK, stationed here under the U.S. Air Force, so we are educating ourselves on the disease and areas of support within the UK in hopes of providing additional help for the family. He is currently 12 years of age. Thank you again!