English intro

Introduction

Espana | Francais | German | Italiano | Other languages

Nemaline myopathy is also known as:
nemaline rod myopathy, rod myopathy, congenital rod myopathy, congenital rod disease, congenital myopathy, congenital nemaline myopathy, nemaline myopathie, miopatía nemalina

Welcome to the nemaline myopathy (NM) website, the first and most comprehensive resource for NM on the net. We hope that you will find support here whether you are the parent of a newly diagnosed child or an adult who has been living with NM for many years. We are a small (175+) group of families and affected individuals who have learned to support and educate each other through the NM maze. Among us, we have a wealth of experience and knowledge of NM in all its degrees. We are in close contact with all the world’s leading medical researchers into this subject and have tried a multitude of therapies and approaches to dealing with this disorder. We will do our best to answer your questions as well as drawing on your experiences as we endeavour to build a comprehensive picture of nemaline myopathy.

If you are the parent of a newly diagnosed child, you may have been given a very bleak prognosis. Too many of us have also had doctors writing off our children. We have been told to place DNR (do not resuscitate) orders or to turn off ventilators and yet, today, those same “hopeless” cases are starting school, fighting with their siblings and notching up birthdays. Fortunately many of us refused to listen when we were told that our kids would never walk or talk or that no amount of therapy would help a child with NM. The truth is that most doctors are not familiar with nemaline myopathy. NM is very rare and there is a HUGE variation from person to person. It is simply not possible for them to give an accurate prognosis. We have learned to take the doom- mongering with a pinch of salt, and so will you.

This is not to say that it is an easy journey. NM, especially the most severe form, is a serious and complex disorder; there is a lot to learn. As a new parent it is only natural to feel overwhelmed and scared by all the equipment and stress of raising a "medically fragile” child with constant needs. We have all felt lost and alone in this at times and grieving and sadness is a part of the process. But there are many rewards too and, as parents, we have also come to see what an incredible gift these children are. Kids with NM are very, very smart; they are sociable and loving and an asset to any family. Whilst at first we see all the differences, in time we come to realise that there are more similarities with other children. Yes the journey can be hard, but at times it is also exciting, exhilarating, profoundly moving and deeply fulfilling. Welcome to the world of special needs parenting. You will see that there is a huge amount to learn; therapies, equipment, medical information, and human biology. Try not to feel overwhelmed, one step at a time you will become familiar with all the terminology and concepts. We have learned that WE are the real experts in this subject. As a group we have more experience and know-how than even the leading doctors in the field, and our children are living proof that the medics don’t always know best.

If you are a teenager or an adult with NM you will also find lots of support here. Some of our members have been living with NM for over 60 years! Again, we hope to be able to answer your questions and look forward to adding your experience to our pool of knowledge. Our adult members are the greatest support to our new parents, offering them the benefit of years of experience as well as the reassurance that many of them desperately need. We have NMers here with varying degrees of severity; some are ventilated, some use wheelchairs, some are starting families of their own. Whatever stage of life you find yourself at, we hope that you will find friends and understanding here.

To talk to parents of children with NM and affected adults and teenagers, join our lively chat group. We have members around the world from 7 hours old to 70+ years old.

Yours truly,
David McDougall (Site founder and owner, living with NM since 1964)
On behalf of the online NM community.

Web Site Creation

My name is David McDougall and I live near Edinburgh, Scotland. I was born in 1964 and diagnosed with NM at age 2. When I began surfing the Net in January 1999, I knew nothing of nemaline myopathy other than my own experiences. My doctors have never been able to tell me much about this rare genetic disorder, as most have never heard of it. Over the last few years I had become increasingly frustrated at not knowing anything about my disability other than how it affects my daily life. I therefore started this web in order to find other people around the world who, like me, have doctors with little knowledge about nemaline. There is some detail on the internet, but virtually all is written in scientific gobbledygook. These regularly updated pages have developed into the definitive web site for anyone seeking information about nemaline myopathy. I am delighted to say this website has brought together many people from around the world. I have made contact with over 300 people with NM plus many relatives, doctors, scientists and support professionals. Without the internet almost none of the 400+ contacts I have made would know each other existed. and so far have made friends in many other countries; found that research is being done in several laboratories and that one of the top scientists researching NM comes from Scotland!! The website began with a few pages and grew quicker than I expected. Now a discussion group is well established and several parents have benefited greatly from the knowledge of other parents who have learned the hard way. Recently I have put several children in touch. Now they have become pen pals. Let us all unite and help each other when the doctors cannot.

Yours sincerely,
David