Blog

What’s in a Name?

A research paper was published early this year that compares M-CM and MPPH syndromes, which both have megalencephaly as a characteristic.  Included in that paper was the proposal to rename M-CM from "macrocephaly-capillary malformation" to "megalencephaly-capillary malformation" with a new abbreviated name of MCAP.

The subject of the paper is not nomenclature, but this detail could have significant implications for M-CM patients.  M-CM was first identified in 1997 and at that time was called macrocephaly-cutis marmorata telangiectasia congenita or M-CMTC.  In 2007, the current name was proposed because the initial name did not accurately describe the skin markings in M-CM.

The proposed new name does not correct an inaccuracy, and we feel that it introduces unnecessary chaos into the business of caring for people with M-CM.  From our perspective, there is no problem that this name change solves.  In fact, we think that a search on "macrocephaly" is more likely to be performed by someone looking for a diagnosis since "megalencephaly" would only be determined as a result of imaging.  We see no reason to change the abbreviation from M-CM to MCAP.

We hope that researchers and clinicians do not adopt this new proposed name and continue to use M-CM, macrocephaly-capillary malformation.  It is our opinion that the purpose of a name is to serve as a stable placeholder for discussion of something, and changing the name yet again subverts that purpose, causing confusion and problems for patients and for the people who care for them.

Tags: Nomenclature (6)

5 Comments

I totally agree, another name change is not for the benfit of patients or carers. I already find myself having to put “M-CM (previously known as M-CMTC)” on forms so as not to confuse anyone comparing earlier and later notes. Another name change would make directing people through my son’s medical history even more complex.
I think I would also end up having to explain to most of my son’s care providers(who are mostly not concerned with neurology/neurosurgery) what megalencephaly means (I’ll also probably have to tell them how to spell it for their notes) whereas they usually understand macrocephaly without any further explanation.

As a parent of a child with M-CM, I have read this article with a heavy heart.  My son, after many misdiagnosis, was diagnosed with M-CMTC in 2004 when he was 9 years old.  Although here in the UK, there are a growing number of children and young adults being “re-diagnosed”, I for one am finding the condition not widely known by the medical staff that we deal with.  Even now my son is 15, and we have had this diagnosis for 6 years I still find myself having to explain every aspect of M-CMTC to most professionals that we encounter.  When the name changed to M-CM, it seemed to cause even more areas of confusion and I had to spend even more time explaining to staff and caregivers about Jack’s condition.  More often than not I find myself directing them to M-CM.net or my own website about my son.  To change the name AGAIN, especially when it’s not to correct an inaccuracy, seems over-zealous to me, and yes it will cause more confusion amongst medical staff that are not neurology based!  And from a Parent’s point of view…..yet more explanations and paperwork changes at appointments! 
To some of us, especially those whose children have other life limiting medical issues as well as M-CM, time is precious.  Don’t make us waste our time with unnecessary complications!

I feel that the name change will do more damage too an already difficult to define syndrome. Medical practitioners already are unaware of M-CM and usually look to the parents to explain what the syndrome is and for that matter how it impacts out children. By changing the name at this stage really serves no purpose to families or the medical science community. If the syndrome name currently encompasses the multifaceted dynamics of the syndrome then leave it be. When we first for the diagnosis 4 years ago it was only through many searches for the term Macrocdphaly that was dirt mentioned in doctor visits with me child. The name was mcmtc then and yet another change to McM just recently. Many patients are now finding their way amongst all the alphabet soup and throwing in a change now will truly do Jose on the cusps of getting a diagnosis a disservice. I as an advocate for my child with M-CM feel that we have come to far in searching for medical assistance, research and educations ourselves and doctors about M-CM this new proposal may set us back when trying to get care for our children. I beg the research community to keep M-CM. there’s already so much work parents have put into the name and advancement of education to change it now would be unacceptable.

I agree it is hard as it is to explain a rare syndrome, it will be even harder to explain the multiple names given, track down information, or to advocate and create awareness for it.  I vote for keeping the same name M-CM.  even though my child doesn’t have macrocephalia the name of M-CM doesn’t bother me and if the names helps to bring researchers on board or improve the odds for research and funding, I am even more in favor to keep M-CM!
There are plenty for us parents to worry about, the name, name changes or memorizing new one, should not be one of our worries.

I think my biggest concern about another name change is families and physicians not finding the information they need on the diagnosis.  I know many families including our own have done self diagnosis of their children on the internet.  If I had not found the older M-CMTC website, my son would have gone on without a diagnosis and appropriate treatment.  Still I have physicians that are confused about the diagnosis and I refer them to the M-CM network website.  Another name, more confusion.  I have found there really is no formal process that any researcher has to go through to change a syndrome name.  No peer review, no consensus.  It is a bit baffling.

Your Comment