The Dutch Cutis Marmorata Telangiectatica Congenita (CMTC) Association
CMTC (also known as the Van Lohuizen syndrome) is a rare skin condition in which enlarged blood veins glimmer through the skin. Generally only a part of the skin is affected and spread over the body is asymmetric. But, as in many rare diseases, the symptoms vary from patient to patient making diagnosis and prognosis even more difficult. “For some, it is a cosmetic problem, for others it can mean mobility problems and unfortunately, some patients die due to CMTC,” says Lex van der Heijden.
When your child is diagnosed with a disease, let alone a rare disease you've never heard of, what do you do? Look it up, try to reach out to parents with the same issues... but CMTC is so rare that Lex van der Heijden found practically nothing. “Eventually we reached the Dutch Patients/Consumers Federation (NP/CF) who advised us to register as a contact person in the Netherlands. Via the NP/CF a contact was made with the Skin Federation, a Dutch federation for patient organisations concerning skin conditions. The Skin Federation advised us to set up an association for people with CMTC and has really helped us with this,” recounts Lex van der Heijden.
With two solid goals in mind - increase the well-being of people who suffer from CMTC and stimulate research on the disease - Lex van der Heijden created the Dutch CMTC organisation. The difficulties were numerous. “The doctors, the media had no interest in CMTC. Our organisation was so small that we had no influence whatsoever. Due to CMTC's rareness we had to work worldwide and this added many barriers: language, culture, money... We had our share of financial issues but they were solved by the government who supports us partially.” says the founder-president of the Dutch CMTC organisation. Even if Lex van der Heijden admits that these difficulties are sometimes still applicable, his organisation, thanks to never-ending energy, dedication and time, has more than met expectations. It's the only organisation worldwide solely dedicated to CMTC and since 2005 has set up a very interesting initiative for its members in and outside the Netherlands: free medical examinations.
Over the years, the Dutch association has established a close link with doctors and researchers in the Netherlands. In 2005 the academic hospitals of Amsterdam, Rotterdam and Maastricht started a genetic research program on particular vascular malformations including CMTC. The free medical examination program of the Dutch association is part of this research programme. “All costs are covered by the program and depending on the symptoms and complications, the patient will be referred to a variety of medical specialists,” explains Lex van der Heijden. Until now, some 15 patients from the Netherlands, UK, USA, Norway, Denmark, Canada and Croatia have participated in the programme! “In the majority of CMTC cases, many patients and their families live in great uncertainty. We can quickly make contact with the right medical specialists and we arrange the free medical examinations. In some cases we can even arrange two free airfare tickets,” explains Elvira's father.
Lex van der Heijden thinks that for this kind of initiative to work, patient organisations, researchers and medical specialists should share a close-knit relationship. After 11 years, the Dutch CMTC organisation is recognised worldwide but for Lex, self-satisfaction is never the right way to go. “We have to rebuild our network again and again because nothing is permanent. Our challenges lie in the continuity of what makes the network: financial support, medical support, collaboration with researchers, the energy and work of volunteers. ” And then, there's the one big hope: finding the gene that causes CMTC and the possible causes, at last.
This article was first published in the October 2008 issue of the EURORDIS newsletter
Author: Nathacha Appanah
Photo credits: All photos © Lex van der Heijden