Subscribe Now

By entering these details you are signing up to receive our newsletter.

Turning the tide for rare disease

CMTC-OVM: improving the lives of people with blood vessel abnormalities (vascular malformations)

CMTC-OVM: improving the lives of people with blood vessel abnormalities (vascular malformations)
CMTC-OVM: improving the lives of people with blood vessel abnormalities (vascular malformations)

Lex’s story

Lex is father to a daughter with CMTC (cutis marmorata telangiectatica congenita), a congenital condition that causes a marbled appearance to the skin. Rarely, it can also cause other problems, such as a difference in the growth rate of an affected limb.1

When Lex’s daughter was born in 1993, she was “completely covered in bruises” and Lex and his wife assumed she had got stuck somewhere during birth. Their paediatrician had no answers for them either but assured them that it was “only cosmetic”.

“But after a couple of months my wife said, ‘How is that cosmetic? Look at her legs: they aren’t symmetrical any more. What’s going on?’”

With this began Lex and his wife’s search for answers. Their visit to a third academic hospital six months after their daughter was born finally brought a diagnosis of CMTC, but the couple still had many unanswered questions. 

“We said okay, but what does this mean? Will she ever be able to walk? Will she end up in a wheelchair. We had so many questions and that’s why we started the foundation.”

Initially, the foundation focused on supporting people with CMTC, but this soon evolved as Lex and his team began supporting individuals with other vascular malformations, of which there are many.

The organisation was formally founded in 1997 as CMTC-OVM (OVM is an abbreviation of “other vascular malformations”). The rapid growth of the world wide web at that time would soon bring it an international reach.

“People always had the same issues. What’s wrong with my child? I’ve never seen this before. And that is still happening today. The conditions pose many, many challenges for individuals and also for families.”

CMTC-OVM’s work

CMTC-OVM gives its support in person and through its website, where there is a great deal of useful information, including downloadable information leaflets, in many different languages.

The organisation supports patients and families with the medical issues that arise from having a vascular malformation and with their psychological effects too. Lex explains that people affected by these conditions can have a poor self-image and low self-confidence, especially when people look at them differently or even pass comment on their appearance.

Lex is also keenly aware of the potential impact of vascular malformations on the wider family. For example, brothers and sisters are affected because they will worry about their sibling, he says. Tensions can also arise in the parents’ relationship. “We’ve seen serious issues because the mother is dealing with the disease in a different way than the father.”

CMTC-OVM: improving the lives of people with blood vessel abnormalities (vascular malformations)
Family days give families the opportunity to connect and unwind at places such as Efteling, a fantasy-themed amusement park in the Netherlands

As well as visiting the global open Facebook site (which has separate groups for adults, young adults and children), patients, families and healthcare providers alike can join CMTC-OVM’s closed Facebook groups where they can access reliable information and share their knowledge and experience.

Additionally, there are national groups in 19 different countries, where patient advocates help to give local support.

“We at CMTC-OVM are one big family. When a question arises, it is posted to the community and the answers are available worldwide. That gives us incredible strength and support and we are very grateful for that.”

Silke, patient advocate (Austria) and mother of a child with diffuse capillary malformation with overgrowth (DCMO)

Conferences

The CMTC-OVM’s conferences have taken place for over 20 years. They are mostly in the Netherlands but there have been several in the United States and in Canada. They connect patients, families, doctors and researchers.

The conferences give people who think they may have a vascular malformation the chance to meet with a doctor who can give a diagnosis. First, CMTC-OVM connects their doctors with the person’s own medical team to facilitate the process. This not only makes the diagnosis official but also creates a longer-term relationship that can  support the patient.

As well as doctors, there are multi-disciplinary teams in attendance too, including neurologists and paediatricians and whatever other expertise is needed. “All the specialists at the same time in the same meeting,” Lex says. Consequently, people do not have to deal with delays, separate journeys and the administrative difficulties involved in arranging a series of appointments. 

As time has gone on, the underlying concept of the conferences has evolved, Lex says. He conceptualises the conferences as they are now using the idea of a clover leaf.

“Initially we had a patient and a doctor; so, there were two leaves. The third leaf is the family. The fourth is the patient organisation because they know more than any one patient. This should all work together as a cloverleaf.”

The conferences are designed so that patients can access the expertise they need—expertise that is often lacking elsewhere.

CMTC-OVM has organised patient advocate training in the Netherlands (27–28 October, 2022. The Dutch government funds the development of the training and the travel and hotel costs of the participants—“CMTC’s funding is transparent and its mission is driven by its core values,” Lex says. The CMTC-OVM conference will follow (29–30 October 2022), when CMTC-OVM will celebrate its 25th anniversary.

“CMTC-OVM is an incredible organisation… it really bonds people all over the world that share this unique sort of rare disease. It’s so enlightening and so refreshing to be reassured and know that there are people like you going through the same things.”

Eden, CMTC patient

Links


Skip to content